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HMGA2 (high mobility group AT-hook 2)

Written2000-05Florence Pedeutour
Laboratoire de Génétique des Tumeurs Solides, 5ème étage, Faculté de Médecine, 28 avenue de Valombrose, 06107 Nice cedex 2, France
Updated2005-12Karin Broberg
Molecular biologist, Dep. of Occupational, Environmental Medicine, Lund University Hospital, SE-221 85 Lund, Sweden
Updated2015-10Jian-Jun Wei
Floyd Elroy Patterson Research Professor of Pathology, Department of Pathology and Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, Robert H. Lurie Comprehensive Cancer Center, Women's Health Research Institute, 251 East Huron Street, Feinberg 7-334, Chicago, Illinois 60611; jianjun-wei@northwestern.edu

Abstract HMGA2, the High Mobility Group A2 gene, is a non-histone and architectural transcription factor. As an oncofetal protein, HMGA2 plays an important role in development and contributes to the tumorigenesis of many epithelial and mesenchymal tumors. Upregulation of HMGA2 by non-random chromosomal translocations is common in mesenchymal tumors, whereas by the altered transcription regulation is likely the major mechanism in malignant epithelial tumors and it involves much more complex mechanisms. HMGA2 directly and indirectly regulates the multiple biological and oncogenic pathways. Its oncogenic property remains to be fully characterized.

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Identity

Other namesHMGIC (High mobility group protein isoform I-C
BABL
LIPO
STQTL9
HGNC (Hugo) HMGA2
LocusID (NCBI) 8091
Atlas_Id 82
Location 12q14.3  [Link to chromosome band 12q14]
Location_base_pair Starts at 66218240 and ends at 66346311 bp from pter ( according to hg19-Feb_2009)  [Mapping HMGA2.png]
Local_order telomeric to CDK4, centromeric to MDM2
 
  FISH Probe(s) - Courtesy Mariano Rocchi
Fusion genes
(updated 2016)
ACKR3 (2q37.3) / HMGA2 (12q14.3)ALDH2 (12q24.12) / HMGA2 (12q14.3)CCNB1IP1 (14q11.2) / HMGA2 (12q14.3)
COX6C (8q22.2) / HMGA2 (12q14.3)EBF1 (5q33.3) / HMGA2 (12q14.3)FHIT (3p14.2) / HMGA2 (12q14.3)
HMGA2 (12q14.3) / ACKR3 (2q37.3)HMGA2 (12q14.3) / ALDH2 (12q24.12)HMGA2 (12q14.3) / CACNB4 (2q23.3)
HMGA2 (12q14.3) / CCNB1IP1 (14q11.2)HMGA2 (12q14.3) / CCT2 (12q15)HMGA2 (12q14.3) / CHMP1A (16q24.3)
HMGA2 (12q14.3) / CMKOR1 ()HMGA2 (12q14.3) / COG5 (7q22.3)HMGA2 (12q14.3) / COX6C (8q22.2)
HMGA2 (12q14.3) / DYRK2 (12q15)HMGA2 (12q14.3) / EBF1 (5q33.3)HMGA2 (12q14.3) / EFCAB6 (22q13.2)
HMGA2 (12q14.3) / FHIT (3p14.2)HMGA2 (12q14.3) / HMGA2 (12q14.3)HMGA2 (12q14.3) / LHFP (13q13.3)
HMGA2 (12q14.3) / LPP (3q28)HMGA2 (12q14.3) / NFIB (9p23)HMGA2 (12q14.3) / NUP107 (12q15)
HMGA2 (12q14.3) / PLPP3 (1p32.2)HMGA2 (12q14.3) / RAD51B (14q24.1)HMGA2 (12q14.3) / VIPR1 (3p22.1)
HMGA2 (12q14.3) / WIF1 (12q14.3)LHFP (13q13.3) / HMGA2 (12q14.3)LPP (3q28) / HMGA2 (12q14.3)
NFIB (9p23) / HMGA2 (12q14.3)RAD51B (14q24.1) / HMGA2 (12q14.3)WIF1 (12q14.3) / HMGA2 (12q14.3)

DNA/RNA

 
  HMGA2 has long UTR (about 3,000 nt). HMGA2 can be potentially regulated by multiple miRNAs and one of well characterized miRNAs is let-7 family which contains at least five predicted bindings sites. MIRLET7E (Let-7) repression of HMGA2 expression at transcription and translation has been demonstrated in several different studies (Lee and Dutta 2007, Wang et al. 2007, Peng et al. 2008). Inverse association of Let-7 and HMGA2 is an important regulation mechanism in normal development and abnormal tumorigensis (Park et al. 2007, Shell et al. 2007).
Description 5 exons, spans approximately 160 kb; a sixth alternative terminal exon within intron 3 has been described
Transcription RNA: 4.1 kb. Transcription initiated from two different promoter regions. A polymorphic dinucleotide repeat upstream of the ATG start codon strongly regulates HMGA2 expression. Moreover, HMGA2 is controlled by negatively acting regulatory elements within the 3'UTR

Protein

 
Description 109 amino acids; three DNA binding domains (AT hooks) linked to the carboxy-terminal acidic domain that does not activate transcription.
 
  HMGA2 can directly regulate expression of many genes. Specific recognition of AT-rich DNA sequences by HMGA2 was reporte by a SELEX study. The relative heights are proportional to their frequencies shown in the 71 SELEX sequences (Cui and Leng 2007).
Expression Fetal tissues: expression in various tissues, prominent in kidney, liver and uterus; adult tissues: no expression except in lung and kidney; tumors: expression in benign mesenchymal tumor tissues correlated to 12q15 rearrangements; expressed in malignant tumours (e.g., in breast tumours, pancreas tumours, ovarian cancer, lung tumours, colorectal cancer, nerve system tumours, oral cavity squamous cell cancer).
 
  Inverse expression pattern of HMGA2 and let-7 family in developmental and adulthood stages as well as neoplastic change (Park, Shell et al. 2007).
Localisation nuclear
 
  Immunohistochemistry shows that HMGA2 is specifically expressed and located in nucleus. Photomicrographs illustrate strong immunoreactivity for HMGA2 in leiomyoma with t(12;14) translocation and high grade serous ovarian carcinoma (Wu and Wei 2013, Bertsch et al. 2014).
Function Architectural factor, non histone, preferential binding to AT rich sequences in the minor groove of DNA helix; the precise function remains to be elucidated; probable role in regulation of cell proliferation.
 
  It is widely accepted that functional CDKN2A (p16INK4a) and RB1 (pRb) as well as the HMGA2, which accumulate at E2F target promoters during senescence, are critically required for SAHF arrangement (Narita et al. 2006).
Homology Member of the HMGI protein family.
 
  HMGA2 is regulated by non-coding miRNAs and coding genes. As a non-histone nuclear transcription regulator, HMGA2 has a broad influence in many gene expression, mainly target at epithelial-to-mesenchymal transition (EMT), cell proliferation, DNA damage repair, stem cell self-renewal and differentiation, as well as tumorigenesis of many benign and malignant mesenchymal and epithelial tumors (Wu and Wei 2013).
 
  HMGA2 regulates stem cell potential for self-renewal. HMGA2 seems to be a major regulator of INK4a/ARF expression. HMGA2 reduces INK4A and ARF expression. HMGA2 binds to the Junb locus. As JUNB promotes INK4A/ARF expression in stem cells, thus promoting stem cell self-renewal. Increase in let-7 expression results in the downregulation of HMGA2 and the derepression of the INK4a/ARF and activation of p16INK4a expression in self-renewing cells. In Hmga2-deficient mice, it shows reduced stem cell numbers and self-renewal. Furthermore, p16(Ink4a) and p19(Arf) expression were increased in Hmga2-deficient fetal and young-adult stem cells, and deletion of p16(Ink4a) and/or p19(Arf) partially restored self-renewal capacity. (Yu et al. 2007, Nishino et al. 2008).

Mutations

Germinal Deletion of HMGIC in mutant mice or transgenic 'knock out' mice for the first two exons of HMGIC have the "pigmy" phenotype: low birth weight, craniofacial defects, adipocyte hypoplasia adult body weight about 40% of normal; mice with a partial or complete deficiency of HMGA2 resisted diet-induced obesity implicating a role of the gene in fat cell proliferation; truncations of mouse Hmga2 in transgenic mice result in somatic overgrowth and, in particular, increased abundance of fat and lipomas; overexpression of the HMGA2 gene in transgenic mice leads to the onset of pituary adenomas secreting prolactic and growth hormone; HMGA2-null mice had very few spermatids and complete absence of spermatozoa.
8-year-old boy had a de novo pericentric inversion of chromosome 12, with breakpoints at p11.22 and q14.3. The phenotype included extreme somatic overgrowth, advanced endochondral bone and dental ages, a cerebellar tumour, and multiple lipomas. His chromosomal inversion was found to truncate HMGA2, which maps to the 12q14.3 breakpoint.

Implicated in

Entity MESENCHYMAL BENIGN TUMORS as follows:
  
Entity Lipoma
Disease benign adipocyte tumor
Prognosis good
Cytogenetics various rearrangements involving 12q15 (translocations, inversions, deletions...); reciprocal translocations involve 12q15 with different partners such as chromosomes 1, 2, 3, 7, 10, 11, 13, 15, 17, 21, X; the most frequent anomaly is t(3;12)(q27-28;q15); cryptic rearrangements, such as paracentric inversions not detectable by conventional cytogenetics but detectable by FISH, have been described
Hybrid/Mutated Gene for t(3;12): HMGIC-LPP (LPP: lipoma preferred partner; 3q27-28); a gene located in 13q, LHFP (lipoma HMGIC fusion partner) was found to be fused with HMGIC in one case of lipoma; one lipoma displayed fusion of HMGA2 exon 4 with a sequence from intron 4, indicating abnormal splicing; HMGA2-CMKOR1 in three cases with aberrations involving 2q35-37 and 12q13-15; HMGA2-NFIB in one lipoma;
Abnormal Protein HMGIC-LPP; the three AT hook domains at the aminoterminal of HMGIC are fused to the LIM domain of LPP; another fusion protein due to the fusion of HMGIC with a putative gene located at 15q24 predicted to encode a protein with a serine/threonine-rich domain has also been described
Oncogenesis the relevance of the exact role LPP in the HMGA2-LPP fusion is not established yet, but the transactivation functions of the LPP LIM domains is retained in the fusion protein and the fusion protein can function as a transcription factor; the truncation of HMGA2 by itself may have a role in the tumorigenesis
  
Entity Uterine leiomyoma (uterine fibroids)
Disease benign mesenchymal tumors
Prognosis good
Cytogenetics approximately 40% of uterine leiomyomas have structural chromosomal rearrangements, about 10% of which involve 12q15 (translocations, inversions, deletions...); the most frequent anomaly is t(12;14)(q15;q23-24)
Hybrid/Mutated Gene in a majority of cases, there is no fusion gene: the breakpoint is located 10 kb up to 100 kb 5' to HMGIC; the recombinational repair gene RAD51B is a candidate to be the partner gene of HMGIC in t(12;14). In two cases (out of 81 primary tumors) exon 7 of RAD51B was fused in frame to either exon 2 or 3 of the HMGA2 gene; in one case with paracentric inversion, HMGIC exon 3 was fused to ALDH2 exon 13 (12q24.1); in one case (no cytogenetic analysis) HMGIC exon 3 was fused to COX6C 3' UTR (8q22-23); in one case, with apparently normal karyotype, exon 3 of HMGIC was fused to retrotransposon-like sequences RTVLH 3' LTRs; three fusion transcripts contained 3' cryptic exonic sequences present in intron 3 of the HMGA2 gene (breakpoints downstream of exons 3 or 4), suggesting that they are due to alternative splicing; one case displayed fusion of the first two exons of HMGA2 to the 3' portion of the CCNB1IP1/C14orf18/HEI10 gene
 
Abnormal Protein HMGIC-ALDH2: ALDH2 contribution was only 10 amino acids;
Oncogenesis HMGIC-ALDH2: it is suggested that the truncation of HMGIC, rather than fusion may be responsible for tumorigenesis; the 3' untranslated region may stabilize the HMGIC messenger RNA
  
Entity Pleomorphic adenoma of the salivary gland (or mixed salivary gland tumor)
Disease benign tumors from the major or minor salivary glands
Prognosis good
Cytogenetics approximately 12% of pleomorphic adenomas of salivary glands show abnormalities involving HMGIC in 12q15; the most frequent aberration is t(9;12)(p24.1;q15)
Hybrid/Mutated Gene in t(9;12): HMGIC-NFIB fusion; another type of fusion HMGIC-FHIT (3p14.2) has also been described
  
Entity Pulmonary chondroid hamartoma of the lung
Disease benign mesenchymal tumors of the lung
Prognosis good
Cytogenetics various rearrangements involving 12q15 leading to HMGIC dysregulation; cryptic rearrangements such as paracentric inversions not detectable by conventional cytogenetics but detectable by FISH have been described
Hybrid/Mutated Gene in two cases with apparently normal karyotypes, exon 3 of HMGIC was fused to retrotransposon-like sequences RTVLH 3' LTRs; in cases with t(3;12)(q27-28;q14-15) (see lipomas), a fusion of HMGA2-LPP was described; only 1/61 cases with normal karyotype displayed HMGA2-LPP fusion; three cases with rearrangements involving 12q14-15 and 13q12-14 lacked rearrangements of HMGA2-LHFP;
 
  
Entity Endometrial polyps
Disease uterine benign tumors
Prognosis good
Cytogenetics various rearrangements involving 12q15 leading to HMGIC dysregulation; cryptic rearrangements such as paracentric inversions not detectable by conventional cytogenetics but detectable by FISH have been described; in one case, HMGIC was amplified and overexpressed
  
Entity Myofibroblastic inflammatory tumor
Disease benign mesenchymal tumors
Prognosis good
Cytogenetics in one case, a complex rearrangement involving chromosomes 12 (in 12q15), 4 and 21 was described
Hybrid/Mutated Gene an aberrant transcript was produced by the fusion of HMGIC exon 3 to an ectopic sequence originating from the third intron of HMGIC
  
Entity Chondrolipoangioma
Disease a rare benign type of mesenchyomas composed predominantly of cartilage and adipose tissue with vascular elements and myxoid elements
Cytogenetics One case demonstrated t(12;15)(q13;q26). FISH analysis revealed rearrangement of chromosomes 2, 12 and 15 and HMGA2.
  
Entity Chondromas
Disease benign cartilage tumours
Cytogenetics HMGA2 was expressed in 4/6 soft tissue chondromas (all with 12q-rearrangements cytogenetically), three cases showed truncated (exons 1-3) transcripts, one case displayed a t(3;12)(q27;q15) and RT-PCR demonstrated a HMGA2-LPP fusion transcript composed of HMGA2 exons 1-3 and LPP exons 9-11.
  
Entity Hyaline vascular Castleman's disease
Cytogenetics one case with der(6)t(6;12)(q23;q15)del(12)(q15) is described.
Hybrid/Mutated Gene a combined immunologic-cytogenetic approach demonstrated HMGA2 rearrangement in follicular dendritic cells
  
Entity Prolactinoma
Disease prolactin-secreting pituary adenoma, non-metastasizing
Cytogenetics trisomy 12 nonrandom finding in pituary adenomas
Hybrid/Mutated Gene HMGA2 locus amplified in 7/8 prolactinomas
  
Entity Aggressive angiomyxoma of the vulva
Disease myxoid mesenchymal neoplasm
Prognosis infiltrative neoplasm, locally destructive recurrences, no metastatic potential
Cytogenetics one case displayed t(8;12)(p12;q15)
Hybrid/Mutated Gene FISH demonstrated a breakpoint 3' of the gene, the tumour expressed HMGA2
  
Entity MALIGNANT TUMORS as follows:
  
Entity Well-differentiated liposarcoma
Disease malignant adipocyte tumor; peripheral or retroperitoneal location
Prognosis rather good; borderline malignancy; locally aggressive, rarely metastasizes
Cytogenetics supernumerary ring or giant marker chromosomes containing 12q14-15 amplification (surrounding MDM2); HMGIC is frequently amplified together with MDM2; rearrangement of HMGA2, in addition to amplification has been described
Hybrid/Mutated Gene ectopic sequences from 12q14-15, 1q24, 11q14, and chromosome 2 was shown to be fused to HMGA2 exon 2 or 3
  
Entity Uterine leiomyosarcoma
Disease malignant counterpart of uterine leiomyoma
Prognosis poor
Cytogenetics 12q13-15 region is recurrently amplified
Hybrid/Mutated Gene HMGA2 amplified within this region
  
Entity Osteosarcoma
Disease malignant tumor
Hybrid/Mutated Gene in one osteosarcoma cell line (OsA-Cl) the three DNA binding domains of HMGIC fused to the keratan sulfate protein glycan gene LUM (12q22-23); LUM was fused out of frame, and only 3 amino acids were fused to HMGIC; in addition, the rearranged gene was amplified
  
Entity Myelofibrosis with myeloid metaplasia
Disease rare chronic myeloproliferative disorder
Prognosis variable
Cytogenetics one case with t(4;12)(q32;q15) and one case with t(5;12)(p14;q15)
Hybrid/Mutated Gene FISH analysis suggested breakpoint in HMGA2, RT-PCR revealed that HMGA2 is expressed in blood mononuclear cells from patients with this disease
  
Entity Acute lymphoblastic leukaemia
Disease Heterogenous disease that arises in precursor B or T cells
Cytogenetics One case with a t(9;12)(p22;q14), frequent deletions at 12q14.3
Hybrid/Mutated Gene t(9;12): FISH analysis indicated a breakpoint in the 5' region of the gene, RT-PCR showed overexpression of HMGA2 lacking the carboxyterminal tail; deletions covering the 5' end of HMGA2
  
Entity High-grade serous carcinoma of the fallopian tubes
Disease Serous carcinoma arising from fallopian tube secretory epithelia.
Oncogenesis Overexpression of HMGA2 regulated by several genetic mechanism, including CTNNB1 (β -Catenin), TGF- β, miRNAs. Currently well definied miRNAs including let-7 and MIR-182. MiR-182 promotes HMGA2 expression through negative regulation of BRCA1 (Moskwa et al. 2011, Liu et al. 2012). HMGA2 regulates several EMT genes including STC2 and LUM (Wu et al. 2011).
Overexpression of HMGA2 is associated with early tumorigenesis, tumor cell proliferation, invasion and worse outcome through regulation of cell cycle, epithelial to mesenchymal transition (Wu et al. 2011).
  
Entity Pancreatic carcinoma
Disease Pancreatic ductal carcinoma.
Oncogenesis Overexpression of HMGA2 promote EMT by regulation of SNAIL, SLUG, SIP1, TCF3 (E12/E47), and ZEB1 (Watanabe et al. 2009).
HMGA2 nuclear immunoreactivity correlates positively with lymph node metastases and high tumor grade (Hristov et al. 2009).
  
Entity Breast Cancer
Disease Serous carcinoma arising from fallopian tube secretory epithelia.
Oncogenesis HMGA2 gene and protein are highly expressed in metastatic breast cancer cells. HMGA2 as an important regulator of PAR1-mediated invasion.
Inhibition of PAR1 signaling suppresses HMGA2-driven invasion in breast cancer cells (Yang et al. 2015).
  
Entity Colon Cancer
Disease Colonic adenocarcinoma.
Oncogenesis HMGA2 delays the clearance of H2AFX(γ-H2AX) in colon cancer.
Overexpression of HMGA2 is associated with metastasis and unequivocally occurred in parallel with reduced survival rates of patients with colorectal carcinoma (Wang et al. 2011).
  
Entity Lung Cancer
Disease Non-small-cell lung cancer (NSCLC)
Oncogenesis HMGA2 can operate as competing endogenous RNA (ceRNA) for the let-7 microRNA (miRNA) family, suggesting that Hmga2 affects let-7 activity by altering miRNA targeting.
HMGA2 promotes the transformation of lung cancer cells independent of protein-coding function. Tgfbr3 expression is regulated by the Hmga2 ceRNA through differential recruitment to Argonaute 2 (AGO2), and TGF-β signalling driven by Tgfbr3 is important for Hmga2 to promote lung cancer progression (Kumar et al. 2014).
  

Breakpoints

 
  Up to 21 partners have a breakpoint with HMGA2 are summarized. The majority of this non-random translocations were found to be in mesenchymal neoplasia (Wu and Wei 2013).
 

Bibliography

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An increased high-mobility group A2 expression level is associated with malignant phenotype in pancreatic exocrine tissue.
Abe N, Watanabe T, Suzuki Y, Matsumoto N, Masaki T, Mori T, Sugiyama M, Chiappetta G, Fusco A, Atomi Y
British journal of cancer. 2003 ; 89 (11) : 2104-2109.
PMID 14647145
 
Human HMGA2 promoter is coregulated by a polymorphic dinucleotide (TC)-repeat.
Borrmann L, Seebeck B, Rogalla P, Bullerdiek J
Oncogene. 2003 ; 22 (5) : 756-760.
PMID 12569368
 
Fusion, disruption, and expression of HMGA2 in bone and soft tissue chondromas.
Dahlén A, Mertens F, Rydholm A, Brosjö O, Wejde J, Mandahl N, Panagopoulos I
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 2003 ; 16 (11) : 1132-1140.
PMID 14614053
 
HMGA2 locus rearrangement in a case of acute lymphoblastic leukemia.
Pierantoni GM, Santulli B, Caliendo I, Pentimalli F, Chiappetta G, Zanesi N, Santoro M, Bulrich F, Fusco A
International journal of oncology. 2003 ; 23 (2) : 363-367.
PMID 12851685
 
Fusion transcripts involving HMGA2 are not a common molecular mechanism in uterine leiomyomata with rearrangements in 12q15.
Quade BJ, Weremowicz S, Neskey DM, Vanni R, Ladd C, Dal Cin P, Morton CC
Cancer research. 2003 ; 63 (6) : 1351-1358.
PMID 12649198
 
High mobility group I-C protein in astrocytoma and glioblastoma.
Akai T, Ueda Y, Sasagawa Y, Hamada T, Date T, Katsuda S, Iizuka H, Okada Y, Chada K
Pathology, research and practice. 2004 ; 200 (9) : 619-624.
PMID 15497774
 
Dysregulation and overexpression of HMGA2 in myelofibrosis with myeloid metaplasia.
Andrieux J, Demory JL, Dupriez B, Quief S, Plantier I, Roumier C, Bauters F, Laï JL, Kerckaert JP
Genes, chromosomes & cancer. 2004 ; 39 (1) : 82-87.
PMID 14603445
 
HMGA molecules in neuroblastic tumors.
Cerignoli F, Ambrosi C, Mellone M, Assimi I, di Marcotullio L, Gulino A, Giannini G
Annals of the New York Academy of Sciences. 2004 ; 1028 : 122-132.
PMID 15650238
 
Expression of mesenchyme-specific gene HMGA2 in squamous cell carcinomas of the oral cavity.
Miyazawa J, Mitoro A, Kawashiri S, Chada KK, Imai K
Cancer research. 2004 ; 64 (6) : 2024-2029.
PMID 15026339
 
Array comparative genomic hybridization analysis of uterine leiomyosarcoma.
Cho YL, Bae S, Koo MS, Kim KM, Chun HJ, Kim CK, Ro DY, Kim JH, Lee CH, Kim YW, Ahn WS
Gynecologic oncology. 2005 ; 99 (3) : 545-551.
PMID 16125217
 
Transactivation functions of the tumor-specific HMGA2/LPP fusion protein are augmented by wild-type HMGA2.
Crombez KR, Vanoirbeek EM, Van de Ven WJ, Petit MM
Molecular cancer research : MCR. 2005 ; 3 (2) : 63-70.
PMID 15755872
 
HMGA proteins in malignant peripheral nerve sheath tumor and synovial sarcoma: preferential expression of HMGA2 in malignant peripheral nerve sheath tumor.
Hui P, Li N, Johnson C, De Wever I, Sciot R, Manfioletti G, Tallini G
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc. 2005 ; 18 (11) : 1519-1526.
PMID 16056249
 
Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas.
Ligon AH, Moore SD, Parisi MA, Mealiffe ME, Harris DJ, Ferguson HL, Quade BJ, Morton CC
American journal of human genetics. 2005 ; 76 (2) : 340-348.
PMID 15593017
 
Fusion of the HMGA2 and NFIB genes in lipoma.
Nilsson M, Panagopoulos I, Mertens F, Mandahl N
Virchows Archiv : an international journal of pathology. 2005 ; 447 (5) : 855-858.
PMID 16133369
 
Frequent deletions at 12q14.3 chromosomal locus in adult acute lymphoblastic leukemia.
Patel HS, Kantarjian HM, Bueso-Ramos CE, Medeiros LJ, Haidar MA
Genes, chromosomes & cancer. 2005 ; 42 (1) : 87-94.
PMID 15495192
 
MED12 and HMGA2 mutations: two independent genetic events in uterine leiomyoma and leiomyosarcoma.
Bertsch, E., W. Qiang, Q. Zhang, M. Espona-Fiedler, S. Druschitz, Y. Liu, K. Mittal, B. Kong, T. Kurita and J. J. Wei
Mod Pathol (2014).27(8): 1144-1153
PMID 4081525
 
Specific recognition of AT-rich DNA sequences by the mammalian high mobility group protein AT-hook 2: a SELEX study.
Cui, T. and F. Leng
Biochemistry (2007).46(45): 13059-13066
PMID 17956125
 
HMGA2 protein expression correlates with lymph node metastasis and increased tumor grade in pancreatic ductal adenocarcinoma.
Hristov, A. C., L. Cope, M. D. Reyes, M. Singh, C. Iacobuzio-Donahue, A. Maitra and L. M. Resar
Mod Pathol (2009).22(1): 43-49
PMID 2769577
 
HMGA2 functions as a competing endogenous RNA to promote lung cancer progression.
Kumar, M. S., E. Armenteros-Monterroso, P. East, P. Chakravorty, N. Matthews, M. M. Winslow and J. Downward
Nature (2014).505(7482): 212-217
PMID 3886898
 
The tumor suppressor microRNA let-7 represses the HMGA2 oncogene.
Dev Lee, Y. S. and A. Dutta
Genes (2007).21(9): 1025-1030
PMID 1855228
 
MiR-182 overexpression in tumourigenesis of high-grade serous ovarian carcinoma.
Liu, Z., J. Liu, M. F. Segura, C. Shao, P. Lee, Y. Gong, E. Hernando and J. J. Wei
J Pathol (2012).228(2): 204-215
PMID 22322863
 
miR-182-mediated downregulation of BRCA1 impacts DNA repair and sensitivity to PARP inhibitors.
Moskwa, P., F. M. Buffa, Y. Pan, R. Panchakshari, P. Gottipati, R. J. Muschel, J. Beech, R. Kulshrestha, K. Abdelmohsen, D. M. Weinstock, M. Gorospe, A. L. Harris, T. Helleday and D. Chowdhury
Mol Cell (2011).41(2): 210-220
PMID 3249932
 
A novel role for high-mobility group a proteins in cellular senescence and heterochromatin formation.
Narita, M., V. Krizhanovsky, S. Nunez, A. Chicas, S. A. Hearn, M. P. Myers and S. W. Lowe
Cell (2006).126(3): 503-514
PMID 1690178
 
Hmga2 promotes neural stem cell self-renewal in young but not old mice by reducing p16Ink4a and p19Arf Expression.
Nishino, J., I. Kim, K. Chada and S. J. Morrison
Cell (2008).135(2): 227-239
PMID 2582221
 
Let-7 prevents early cancer progression by suppressing expression of the embryonic gene HMGA2.
Cycle Park, S. M., S. Shell, A. R. Radjabi, R. Schickel, C. Feig, B. Boyerinas, D. M. Dinulescu, E. Lengyel and M. E. Peter
Cell (2007).6(21): 2585-2590
PMID 17957144
 
Antiproliferative effects by Let-7 repression of high-mobility group A2 in uterine leiomyoma.
Peng, Y., J. Laser, G. Shi, K. Mittal, J. Melamed, P. Lee and J. J. Wei
Mol Cancer Res (2008).6(4): 663-673
PMID 18403645
 
Let-7 expression defines two differentiation stages of cancer.
Shell, S., S. M. Park, A. R. Radjabi, R. Schickel, E. O. Kistner, D. A. Jewell, C. Feig, E. Lengyel and M. E. Peter
Proc Natl Acad Sci U S A (2007).104(27): 11400-11405
PMID 2040910
 
A micro-RNA signature associated with race, tumor size, and target gene activity in human uterine leiomyomas.
Wang, T., X. Zhang, L. Obijuru, J. Laser, V. Aris, P. Lee, K. Mittal, P. Soteropoulos and J. J. Wei
Genes Chromosomes Cancer (2007).46(4): 336-347
PMID 17243163
 
Overexpression of HMGA2 promotes metastasis and impacts survival of colorectal cancers.
Wang, X., X. Liu, A. Y. Li, L. Chen, L. Lai, H. H. Lin, S. Hu, L. Yao, J. Peng, S. Loera, L. Xue, B. Zhou, L. Zhou, S. Zheng, P. Chu, S. Zhang, D. K. Ann and Y. Yen
Clin Cancer Res (2011).17(8): 2570-2580
PMID 3079060
 
HMGA2 maintains oncogenic RAS-induced epithelial-mesenchymal transition in human pancreatic cancer cells.
Watanabe, S., Y. Ueda, S. Akaboshi, Y. Hino, Y. Sekita and M. Nakao
Am J Pathol (2009).174(3): 854-868
PMID 2665746
 
HMGA2 overexpression-induced ovarian surface epithelial transformation is mediated through regulation of EMT genes.
Wu, J., Z. Liu, C. Shao, Y. Gong, E. Hernando, P. Lee, M. Narita, W. Muller, J. Liu and et al.
Cancer Research (2011).71(2): 349-359
PMID 21224353
 
HMGA2 and high-grade serous ovarian carcinoma.
Wu, J. and J. J. Wei
J Mol Med (Berl). 2013 Oct;91(10):1155-65
PMID 23686260
 
Dysregulated protease activated receptor 1 (PAR1) promotes metastatic phenotype in breast cancer through HMGA2.
Yang, E., J. Cisowski, N. Nguyen, K. O'Callaghan, J. Xu, A. Agarwal, A. Kuliopulos and L. Covic
Oncogene (2015).
PMID 26165842
 
let-7 regulates self renewal and tumorigenicity of breast cancer cells.
Yu, F., H. Yao, P. Zhu, X. Zhang, Q. Pan, C. Gong, Y. Huang, X. Hu, F. Su, J. Lieberman and E. Song
Cell (2007).131(6): 1109-1123
PMID 18083101
 

Citation

This paper should be referenced as such :
Wei JJ
HMGA2 (high mobility group AT-hook 2);
Atlas Genet Cytogenet Oncol Haematol. in press
On line version : http://AtlasGeneticsOncology.org/Genes/HMGICID82.html
History of this paper:
Pedeutour, F. HMGIC (high mobility group protein isoform I-C). Atlas Genet Cytogenet Oncol Haematol. 2000;4(2):64-67.
http://documents.irevues.inist.fr/bitstream/handle/2042/37615/05-2000-HMGICID82.pdf
Broberg, K. HMGA2 (high mobility group AT-hook 2). Atlas Genet Cytogenet Oncol Haematol. 2006;10(3):142-148.
http://documents.irevues.inist.fr/bitstream/handle/2042/38311/12-2005-HMGICID82.pdf


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 9 ]
  t(2;11)(q37;q23) KMT2A/SEPT2
t(7;12)(p12;q13) HMGA2 truncated
t(8;12)(q22;q13) HMGA2/?
t(11;12)(q23;q13) /HMGA2
t(11;15)(q23;q14) KMT2A/CASC5
t(12;12)(p13;q13) HMGA2/?
t(12;12)(p13;q13) ETV6/BAZ2A
t(12;14)(q13;q31) HMGA2/?
t(12;20)(q15;q11.2) HMGA2 truncated

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 11 ]
  Soft Tissues: Aggressive angiomyxoma
Bone: Soft tissue chondroma with t(3;12)(q27;q15) HMGA2/LPP
Smooth muscle: Intravenous leiomyomatosis
Uterus: Leiomyoma
Soft Tissues: Lipoma / benign lipomatous tumors
Soft Tissues: Ordinary lipoma with t(1;12)(p32;q14) HMGA2/PPAP2B
Soft Tissues: Liposarcoma / malignant lipomatous tumors
Neuro-Endocrine/Endocrine System: Pituitary adenomas
Head and Neck: Salivary gland tumors: an overview
Soft tissue tumors: an overview
Uterus Tumours: an Overview
Soft Tissues: Well-differentiated liposarcoma

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 1 ]
  Proteus syndrome

External links

Nomenclature
HGNC (Hugo)HMGA2   5009
Cards
AtlasHMGICID82
Entrez_Gene (NCBI)HMGA2  8091  high mobility group AT-hook 2
AliasesBABL; HMGI-C; HMGIC; LIPO; 
STQTL9
GeneCards (Weizmann)HMGA2
Ensembl hg19 (Hinxton)ENSG00000149948 [Gene_View]  chr12:66218240-66346311 [Contig_View]  HMGA2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000149948 [Gene_View]  chr12:66218240-66346311 [Contig_View]  HMGA2 [Vega]
ICGC DataPortalENSG00000149948
TCGA cBioPortalHMGA2
AceView (NCBI)HMGA2
Genatlas (Paris)HMGA2
WikiGenes8091
SOURCE (Princeton)HMGA2
Genomic and cartography
GoldenPath hg19 (UCSC)HMGA2  -     chr12:66218240-66346311 +  12q15   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)HMGA2  -     12q15   [Description]    (hg38-Dec_2013)
EnsemblHMGA2 - 12q15 [CytoView hg19]  HMGA2 - 12q15 [CytoView hg38]
Mapping of homologs : NCBIHMGA2 [Mapview hg19]  HMGA2 [Mapview hg38]
OMIM150699   600698   
Gene and transcription
Genbank (Entrez)AB209853 AF533651 AF533652 AF533653 AF533654
RefSeq transcript (Entrez)NM_001015886 NM_001300918 NM_001300919 NM_003483 NM_003484
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_016296 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)HMGA2
Cluster EST : UnigeneHs.505924 [ NCBI ]
CGAP (NCI)Hs.505924
Alternative Splicing GalleryENSG00000149948
Gene ExpressionHMGA2 [ NCBI-GEO ]   HMGA2 [ EBI - ARRAY_EXPRESS ]   HMGA2 [ SEEK ]   HMGA2 [ MEM ]
Gene Expression Viewer (FireBrowse)HMGA2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8091
GTEX Portal (Tissue expression)HMGA2
Protein : pattern, domain, 3D structure
UniProt/SwissProtP52926 (Uniprot)
NextProtP52926  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP52926
Splice isoforms : SwissVarP52926 (Swissvar)
PhosPhoSitePlusP52926
Domaine pattern : Prosite (Expaxy)HMGI_Y (PS00354)   
Domains : Interpro (EBI)AT_hook-like    AT_hook_DNA-bd_motif    HMGA    HMGI/Y_DNA-bd_CS   
Domain families : Pfam (Sanger)AT_hook (PF02178)   
Domain families : Pfam (NCBI)pfam02178   
Domain families : Smart (EMBL)AT_hook (SM00384)  
DMDM Disease mutations8091
Blocks (Seattle)HMGA2
SuperfamilyP52926
Human Protein AtlasENSG00000149948
Peptide AtlasP52926
HPRD02827
IPIIPI00005996   IPI00816269   IPI00902434   IPI01015178   IPI00981203   IPI00759667   IPI00759481   IPI00845492   IPI00793762   IPI01012084   IPI01011554   
Protein Interaction databases
DIP (DOE-UCLA)P52926
IntAct (EBI)P52926
FunCoupENSG00000149948
BioGRIDHMGA2
STRING (EMBL)HMGA2
ZODIACHMGA2
Ontologies - Pathways
QuickGOP52926
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  nuclear chromosome  regulatory region DNA binding  transcription factor activity, transcription factor binding  core promoter binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  epithelial to mesenchymal transition  chondrocyte differentiation  mesodermal-endodermal cell signaling  DNA binding  AT DNA binding  AT DNA binding  DNA-(apurinic or apyrimidinic site) lyase activity  DNA-dependent protein kinase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  base-excision repair  chromatin organization  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  mitotic nuclear division  mitotic G2 DNA damage checkpoint  multicellular organism development  transcription factor binding  DNA binding, bending  DNA binding, bending  response to virus  regulation of cell cycle process  positive regulation of gene expression  chromosome condensation  chromosome breakage  nucleosomal DNA binding  heterochromatin assembly  protein-DNA complex  cAMP response element binding  MH2 domain binding  MH1 domain binding  histone H2A-S139 phosphorylation  senescence-associated heterochromatin focus  senescence-associated heterochromatin focus assembly  endodermal cell differentiation  chondrocyte proliferation  regulation of growth  DNA damage response, detection of DNA damage  positive regulation of apoptotic process  negative regulation of apoptotic process  negative regulation of DNA binding  negative regulation by host of viral transcription  fat cell differentiation  negative regulation of single stranded viral RNA replication via double stranded DNA intermediate  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  mesodermal cell differentiation  mesenchymal cell differentiation  stem cell differentiation  cell division  5'-deoxyribose-5-phosphate lyase activity  C2H2 zinc finger domain binding  SMAD protein complex  positive regulation of cell cycle arrest  oncogene-induced cell senescence  regulation of stem cell population maintenance  regulation of stem cell population maintenance  positive regulation of stem cell proliferation  positive regulation of stem cell proliferation  positive regulation of transcription regulatory region DNA binding  positive regulation of cellular response to X-ray  positive regulation of cellular senescence  positive regulation of response to DNA damage stimulus  negative regulation of double-strand break repair via nonhomologous end joining  regulation of cellular response to drug  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  nuclear chromosome  regulatory region DNA binding  transcription factor activity, transcription factor binding  core promoter binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  epithelial to mesenchymal transition  chondrocyte differentiation  mesodermal-endodermal cell signaling  DNA binding  AT DNA binding  AT DNA binding  DNA-(apurinic or apyrimidinic site) lyase activity  DNA-dependent protein kinase activity  protein binding  nucleus  nucleoplasm  nucleoplasm  base-excision repair  chromatin organization  regulation of transcription, DNA-templated  transcription from RNA polymerase II promoter  mitotic nuclear division  mitotic G2 DNA damage checkpoint  multicellular organism development  transcription factor binding  DNA binding, bending  DNA binding, bending  response to virus  regulation of cell cycle process  positive regulation of gene expression  chromosome condensation  chromosome breakage  nucleosomal DNA binding  heterochromatin assembly  protein-DNA complex  cAMP response element binding  MH2 domain binding  MH1 domain binding  histone H2A-S139 phosphorylation  senescence-associated heterochromatin focus  senescence-associated heterochromatin focus assembly  endodermal cell differentiation  chondrocyte proliferation  regulation of growth  DNA damage response, detection of DNA damage  positive regulation of apoptotic process  negative regulation of apoptotic process  negative regulation of DNA binding  negative regulation by host of viral transcription  fat cell differentiation  negative regulation of single stranded viral RNA replication via double stranded DNA intermediate  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  SMAD binding  mesodermal cell differentiation  mesenchymal cell differentiation  stem cell differentiation  cell division  5'-deoxyribose-5-phosphate lyase activity  C2H2 zinc finger domain binding  SMAD protein complex  positive regulation of cell cycle arrest  oncogene-induced cell senescence  regulation of stem cell population maintenance  regulation of stem cell population maintenance  positive regulation of stem cell proliferation  positive regulation of stem cell proliferation  positive regulation of transcription regulatory region DNA binding  positive regulation of cellular response to X-ray  positive regulation of cellular senescence  positive regulation of response to DNA damage stimulus  negative regulation of double-strand break repair via nonhomologous end joining  regulation of cellular response to drug  
Pathways : KEGGTranscriptional misregulation in cancer    MicroRNAs in cancer   
REACTOMEP52926 [protein]
REACTOME PathwaysR-HSA-2559584 Formation of Senescence-Associated Heterochromatin Foci (SAHF) [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkHMGA2
Wikipedia pathwaysHMGA2
Orthology - Evolution
OrthoDB8091
GeneTree (enSembl)ENSG00000149948
Phylogenetic Trees/Animal Genes : TreeFamHMGA2
Homologs : HomoloGeneHMGA2
Homology/Alignments : Family Browser (UCSC)HMGA2
Gene fusions - Rearrangements
Fusion : MitelmanHMGA2/ACKR3 [12q14.3/2q37.3]  
Fusion : MitelmanHMGA2/CCNB1IP1 [12q14.3/14q11.2]  [t(12;14)(q14;q11)]  
Fusion : MitelmanHMGA2/COG5 [12q14.3/7q22.3]  [t(7;12)(q31;q14)]  
Fusion : MitelmanHMGA2/COX6C [12q14.3/8q22.2]  [t(8;12)(q22;q14)]  
Fusion : MitelmanHMGA2/EBF1 [12q14.3/5q33.3]  [t(5;12)(q33;q14)]  
Fusion : MitelmanHMGA2/EFCAB6 [12q14.3/22q13.2]  [t(12;22)(q14;q13)]  
Fusion : MitelmanHMGA2/FHIT [12q14.3/3p14.2]  [ins(3;12)(p14;q14q14)]  
Fusion : MitelmanHMGA2/LHFP [12q14.3/13q13.3]  [t(12;13)(q14;q13)]  
Fusion : MitelmanHMGA2/LPP [12q14.3/3q28]  [t(2;12)(q37;q14)]  [t(3;12)(q28;q14)]  
Fusion : MitelmanHMGA2/NFIB [12q14.3/9p23]  [ins(9;12)(p22;q14q14)]  [t(9;12)(p22;q14)]  
Fusion : MitelmanHMGA2/NUP107 [12q14.3/12q15]  [t(12;12)(q14;q15)]  
Fusion : MitelmanHMGA2/PPAP2B [12q14.3/1p32.2]  [t(1;12)(p32;q14)]  
Fusion : MitelmanHMGA2/RAD51B [12q14.3/14q24.1]  [t(12;14)(q14;q24)]  
Fusion : MitelmanHMGA2/WIF1 [12q14.3/12q14.3]  [t(12;12)(q14;q14)]  
Fusion : COSMICRAD51B [14q24.1]  -  HMGA2 [12q14.3]  [fusion_978]  [fusion_979]  [fusion_980]  
Fusion: TCGAHMGA2 12q14.3 NUP107 12q15 GBM
Fusion : TICdbHMGA2 [12q14.3]  -  CCNB1IP1 [14q11.2]
Fusion : TICdbHMGA2 [12q14.3]  -  COG5 [7q22.3]
Fusion : TICdbHMGA2 [12q14.3]  -  COX6C [8q22.2]
Fusion : TICdbHMGA2 [12q14.3]  -  FHIT [3p14.2]
Fusion : TICdbHMGA2 [12q14.3]  -  LPP [3q28]
Fusion : TICdbHMGA2 [12q14.3]  -  NFIB [9p23]
Fusion : TICdbHMGA2 [12q14.3]  -  RAD51B [14q24.1]
Fusion : TICdbHMGA2 [12q14.3]  -  WIF1 [12q14.3]
Polymorphisms : SNP, variants
NCBI Variation ViewerHMGA2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)HMGA2
dbVarHMGA2
ClinVarHMGA2
1000_GenomesHMGA2 
Exome Variant ServerHMGA2
ExAC (Exome Aggregation Consortium)HMGA2 (select the gene name)
Genetic variants : HAPMAP8091
Genomic Variants (DGV)HMGA2 [DGVbeta]
Mutations
ICGC Data PortalHMGA2 
TCGA Data PortalHMGA2 
Broad Tumor PortalHMGA2
OASIS PortalHMGA2 [ Somatic mutations - Copy number]
Cancer Gene: CensusHMGA2 
Somatic Mutations in Cancer : COSMICHMGA2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch HMGA2
DgiDB (Drug Gene Interaction Database)HMGA2
DoCM (Curated mutations)HMGA2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)HMGA2 (select a term)
intoGenHMGA2
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)12:66218240-66346311  ENSG00000149948
CONAN: Copy Number AnalysisHMGA2 
Mutations and Diseases : HGMDHMGA2
OMIM150699    600698   
MedgenHMGA2
Genetic Testing Registry HMGA2
NextProtP52926 [Medical]
TSGene8091
GENETestsHMGA2
Huge Navigator HMGA2 [HugePedia]
snp3D : Map Gene to Disease8091
BioCentury BCIQHMGA2
ClinGenHMGA2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8091
Chemical/Pharm GKB GenePA35093
Clinical trialHMGA2
Miscellaneous
canSAR (ICR)HMGA2 (select the gene name)
Probes
Litterature
PubMed259 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineHMGA2
EVEXHMGA2
GoPubMedHMGA2
iHOPHMGA2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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