HMGA2 (high mobility group AT-hook 2)

2015-10-01   Jian-Jun Wei 

Identity

HGNC
LOCATION
12q14.3
IMAGE
Atlas Image
LEGEND
FISH Probe(s) - Courtesy Mariano Rocchi
LOCUSID
ALIAS
BABL,HMGI-C,HMGIC,LIPO,SRS5,STQTL9
FUSION GENES

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.

DNA/RNA

Atlas Image
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 3UTR

Proteins

Atlas Image

Description

109 amino acids; three DNA binding domains (AT hooks) linked to the carboxy-terminal acidic domain that does not activate transcription.
Atlas Image
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).
Atlas Image
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
Atlas Image
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.
Atlas Image
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.
Atlas Image
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).
Atlas Image
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 name
MESENCHYMAL BENIGN TUMORS as follows:
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 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;
Fusion 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 name
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 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
Atlas Image
Fusion protein
HMGIC-ALDH2: ALDH2 contribution was only 10 amino acids;
Atlas Image
HMGA2 and MED12 mutations are mutually exclusive and are the two independent factors for tumorigenesis of leiomyoma (Bertsch et al. 2014).
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 name
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 gene
in t(9;12): HMGIC-NFIB fusion; another type of fusion HMGIC-FHIT (3p14.2) has also been described
Entity name
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 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;
Atlas Image
Entity name
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 name
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 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 name
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 name
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 name
Hyaline vascular Castlemans disease
Cytogenetics
one case with der(6)t(6;12)(q23;q15)del(12)(q15) is described.
Hybrid gene
a combined immunologic-cytogenetic approach demonstrated HMGA2 rearrangement in follicular dendritic cells
Entity name
Prolactinoma
Disease
prolactin-secreting pituary adenoma, non-metastasizing
Cytogenetics
trisomy 12 nonrandom finding in pituary adenomas
Hybrid gene
HMGA2 locus amplified in 7/8 prolactinomas
Entity name
Disease
myxoid mesenchymal neoplasm
Prognosis
infiltrative neoplasm, locally destructive recurrences, no metastatic potential
Cytogenetics
one case displayed t(8;12)(p12;q15)
Hybrid gene
FISH demonstrated a breakpoint 3 of the gene, the tumour expressed HMGA2
Entity name
MALIGNANT TUMORS as follows:
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 gene
ectopic sequences from 12q14-15, 1q24, 11q14, and chromosome 2 was shown to be fused to HMGA2 exon 2 or 3
Entity name
Uterine leiomyosarcoma
Disease
malignant counterpart of uterine leiomyoma
Prognosis
poor
Cytogenetics
12q13-15 region is recurrently amplified
Hybrid gene
HMGA2 amplified within this region
Entity name
Disease
malignant tumor
Hybrid 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 name
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 gene
FISH analysis suggested breakpoint in HMGA2, RT-PCR revealed that HMGA2 is expressed in blood mononuclear cells from patients with this disease
Entity name
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 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 name
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 name
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 name
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 name
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 name
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

Atlas Image
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).
Atlas Image

Bibliography

Pubmed IDLast YearTitleAuthors
146471452003An increased high-mobility group A2 expression level is associated with malignant phenotype in pancreatic exocrine tissue.Abe N et al
154977742004High mobility group I-C protein in astrocytoma and glioblastoma.Akai T et al
107421012000In vivo modulation of Hmgic reduces obesity.Anand A et al
146034452004Dysregulation and overexpression of HMGA2 in myelofibrosis with myeloid metaplasia.Andrieux J et al
107479312000Transgenic mice expressing a truncated form of the high mobility group I-C protein develop adiposity and an abnormally high prevalence of lipomas.Arlotta P et al
76067861995Disruption of the architectural factor HMGI-C: DNA-binding AT hook motifs fused in lipomas to distinct transcriptional regulatory domains.Ashar HR et al
40815251985Prevention from naturally acquired viral respiratory infection by interferon nasal spray.Saito H et al
125693682003Human HMGA2 promoter is coregulated by a polymorphic dinucleotide (TC)-repeat.Borrmann L et al
121183282002Fusion of RDC1 with HMGA2 in lipomas as the result of chromosome aberrations involving 2q35-37 and 12q13-15.Broberg K et al
156502382004HMGA molecules in neuroblastic tumors.Cerignoli F et al
120328662002HMGA1 and HMGA2 protein expression in mouse spermatogenesis.Chieffi P et al
161252172005Array comparative genomic hybridization analysis of uterine leiomyosarcoma.Cho YL et al
119790972002Hyaline vascular Castleman's disease with HMGIC rearrangement in follicular dendritic cells: molecular evidence of mesenchymal tumorigenesis.Cokelaere K et al
157558722005Transactivation functions of the tumor-specific HMGA2/LPP fusion protein are augmented by wild-type HMGA2.Crombez KR et al
179561252007Specific recognition of AT-rich DNA sequences by the mammalian high mobility group protein AT-hook 2: a SELEX study.Cui T et al
179571442007Let-7 prevents early cancer progression by suppressing expression of the embryonic gene HMGA2.Park SM et al
146140532003Fusion, disruption, and expression of HMGA2 in bone and soft tissue chondromas.Dahlén A et al
18552281991The Mary Lasker Conference, on growth factors in hormone-related tumors.Mueller GC et al
120826342002Overexpression of the HMGA2 gene in transgenic mice leads to the onset of pituitary adenomas.Fedele M et al
119561032002The High Mobility Group A2 gene is amplified and overexpressed in human prolactinomas.Finelli P et al
103984241999HMGIC expression in human adult and fetal tissues and in uterine leiomyomata.Gattas GJ et al
119212782002Sequencing of intron 3 of HMGA2 uncovers the existence of a novel exon.Hauke S et al
111702892001Chromosomal rearrangements leading to abnormal splicing within intron 4 of HMGIC?Hauke S et al
94951951998Chromosomal translocations in benign tumors: the HMGI proteins.Hess JL et al
27695771989Predictors of nutrition supplement use in the elderly. Part I: A review of the literature.Cotugna N et al
160562492005HMGA proteins in malignant peripheral nerve sheath tumor and synovial sarcoma: preferential expression of HMGA2 in malignant peripheral nerve sheath tumor.Hui P et al
106869441999Inflammatory myofibroblastic tumor with HMGIC rearrangement.Kazmierczak B et al
89081601996Amplification of a rearranged form of the high-mobility group protein gene HMGIC in OsA-CI osteosarcoma cells.Kools PF et al
38868981985Nutritional requirements of Plasmodium falciparum in culture. I. Exogenously supplied dialyzable components necessary for continuous growth.Divo AA et al
111354402001Three aberrant splicing variants of the HMGIC gene transcribed in uterine leiomyomas.Kurose K et al
125052642002Expression of the HMGA2-LPP fusion transcript in only 1 of 61 karyotypically normal pulmonary chondroid hamartomas.Lemke I et al
155930172005Constitutional rearrangement of the architectural factor HMGA2: a novel human phenotype including overgrowth and lipomas.Ligon AH et al
223228632012MiR-182 overexpression in tumourigenesis of high-grade serous ovarian carcinoma.Liu Z et al
113917972001Ectopic sequences from truncated HMGIC in liposarcomas are derived from various amplified chromosomal regions.Meza-Zepeda LA et al
112235422001Fusion of a sequence from HEI10 (14q11) to the HMGIC gene at 12q15 in a uterine leiomyoma.Mine N et al
150263392004Expression of mesenchyme-specific gene HMGA2 in squamous cell carcinomas of the oral cavity.Miyazawa J et al
32499321988[The effect of atropine, quinuclidinyl benzilate and their antidote tetrahydroaminoacridine on adhesion and spreading in cells cultured in vitro].Kolárová J et al
16901781990Expression of HRF20, a regulatory molecule of complement activation, on peripheral blood mononuclear cells.Hideshima T et al
161333692005Fusion of the HMGA2 and NFIB genes in lipoma.Nilsson M et al
25822211985Fc gamma-receptor blocking antibodies in hyperimmune and normal pooled gammaglobulin.Templeton JG et al
115502852001Chromosomal translocation t(8;12) induces aberrant HMGIC expression in aggressive angiomyxoma of the vulva.Nucci MR et al
154951922005Frequent deletions at 12q14.3 chromosomal locus in adult acute lymphoblastic leukemia.Patel HS et al
184036452008Antiproliferative effects by Let-7 repression of high-mobility group A2 in uterine leiomyoma.Peng Y et al
88124231996LPP, the preferred fusion partner gene of HMGIC in lipomas, is a novel member of the LIM protein gene family.Petit MM et al
128516852003HMGA2 locus rearrangement in a case of acute lymphoblastic leukemia.Pierantoni GM et al
126491982003Fusion transcripts involving HMGA2 are not a common molecular mechanism in uterine leiomyomata with rearrangements in 12q15.Quade BJ et al
95987961998The t(3;12)(q27;q14-q15) with underlying HMGIC-LPP fusion is not determining an adipocytic phenotype.Rogalla P et al
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88895001996Translocation breakpoints upstream of the HMGIC gene in uterine leiomyomata suggest dysregulation of this gene by a mechanism different from that in lipomas.Schoenberg Fejzo M et al
98921771999Allelic knockout of novel splice variants of human recombination repair gene RAD51B in t(12;14) uterine leiomyomas.Schoenmakers EF et al
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111354372001Evidence for RAD51L1/HMGIC fusion in the pathogenesis of uterine leiomyoma.Takahashi T et al
120219222002Translocation of the HMGI-C ( HMGA2) gene in a benign mesenchymoma (chondrolipoangioma).Van Dorpe J et al
172431632007A micro-RNA signature associated with race, tumor size, and target gene activity in human uterine leiomyomas.Wang T et al
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236862602013HMGA2 and high-grade serous ovarian carcinoma.Wu J et al
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Other Information

Locus ID:

NCBI: 8091
MIM: 600698
HGNC: 5009
Ensembl: ENSG00000149948

Variants:

dbSNP: 8091
ClinVar: 8091
TCGA: ENSG00000149948
COSMIC: HMGA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000149948ENST00000354636P52926
ENSG00000149948ENST00000393577F5H2A4
ENSG00000149948ENST00000393578P52926
ENSG00000149948ENST00000403681P52926
ENSG00000149948ENST00000425208P52926
ENSG00000149948ENST00000536545F5H6H0
ENSG00000149948ENST00000537275P52926
ENSG00000149948ENST00000537429P52926
ENSG00000149948ENST00000539662H0YFY4
ENSG00000149948ENST00000541363F5H2U8

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Transcriptional misregulation in cancerKEGGko05202
Transcriptional misregulation in cancerKEGGhsa05202
MicroRNAs in cancerKEGGhsa05206
MicroRNAs in cancerKEGGko05206
Cellular responses to stressREACTOMER-HSA-2262752
Cellular SenescenceREACTOMER-HSA-2559583
DNA Damage/Telomere Stress Induced SenescenceREACTOMER-HSA-2559586
Formation of Senescence-Associated Heterochromatin Foci (SAHF)REACTOMER-HSA-2559584

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
173220302007Disrupting the pairing between let-7 and Hmga2 enhances oncogenic transformation.472
174379912007The tumor suppressor microRNA let-7 represses the HMGA2 oncogene.457
183919522008Genome-wide association analysis identifies 20 loci that influence adult height.322
168318862006Transforming growth factor-beta employs HMGA2 to elicit epithelial-mesenchymal transition.186
181930452008Common variants in the GDF5-UQCC region are associated with variation in human height.162
177671572007A common variant of HMGA2 is associated with adult and childhood height in the general population.150
177671572007A common variant of HMGA2 is associated with adult and childhood height in the general population.150
188323822008HMGA2 and Smads co-regulate SNAIL1 expression during induction of epithelial-to-mesenchymal transition.141
172223552007High mobility group A2 is a target for miRNA-98 in head and neck squamous cell carcinoma.132
182027512008The HMGA proteins: a myriad of functions (Review).117

Citation

Jian-Jun Wei

HMGA2 (high mobility group AT-hook 2)

Atlas Genet Cytogenet Oncol Haematol. 2015-10-01

Online version: http://atlasgeneticsoncology.org/gene/82/hmga2-(high-mobility-group-at-hook-2)

Historical Card

2005-12-01 HMGA2 (high mobility group AT-hook 2) by  Karin Broberg 

Molecular biologist, Dep. of Occupational, Environmental Medicine, Lund University Hospital, SE-221 85 Lund, Sweden

2000-05-01 HMGA2 (high mobility group AT-hook 2) by  Florence Pedeutour 

Laboratoire de Génétique des Tumeurs Solides, 5ème étage, Faculté de Médecine, 28 avenue de Valombrose, 06107 Nice cedex 2, France