Atlas of Genetics and Cytogenetics in Oncology and Haematology


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HMGA2 (high mobility group AT-hook 2)

Identity

Other namesHMGIC (High mobility group protein isoform I-C)
HGNC (Hugo) HMGA2
LocusID (NCBI) 8091
Location 12q14.3
Location_base_pair Starts at 66218240 and ends at 66360071 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order telomeric to CDK4, centromeric to MDM2
 
  Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics

DNA/RNA

 
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
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, lung tumours, nerve system tumours, oral cavity tumours).
Localisation nuclear
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
Homology member of the HMGI protein family

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 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
  

Breakpoints

 

Other Leukemias implicated (Data extracted from papers in the Atlas)

Leukemias 11q23ChildAMLID1615 11q23ID1030 11q23secondLeukID1131 t1119ELLID1029 t0812q24q22ID2057

Other Solid tumors implicated (Data extracted from papers in the Atlas)

Solid Tumors AmeloblastomID5945 MedulloblastomaID5065 rhab5004 rhabID5004 blad5001
bladID5001 colon5006 colonID5006 EmbryoRhabdomyoID5193

External links

Nomenclature
HGNC (Hugo)HMGA2   5009
Cards
AtlasHMGICID82
Entrez_Gene (NCBI)HMGA2  8091  high mobility group AT-hook 2
GeneCards (Weizmann)HMGA2
Ensembl (Hinxton)ENSG00000149948 [Gene_View]  chr12:66218240-66360071 [Contig_View]  HMGA2 [Vega]
ICGC DataPortalENSG00000149948
cBioPortalHMGA2
AceView (NCBI)HMGA2
Genatlas (Paris)HMGA2
WikiGenes8091
SOURCE (Princeton)NM_001015886 NM_001300918 NM_001300919 NM_003483 NM_003484
Genomic and cartography
GoldenPath (UCSC)HMGA2  -  12q14.3   chr12:66218240-66360071 +  12q15   [Description]    (hg19-Feb_2009)
EnsemblHMGA2 - 12q15 [CytoView]
Mapping of homologs : NCBIHMGA2 [Mapview]
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)AC_000144 NC_000012 NC_018923 NG_016296 NT_029419 NW_001838060 NW_004929384
Consensus coding sequences : CCDS (NCBI)HMGA2
Cluster EST : UnigeneHs.505924 [ NCBI ]
CGAP (NCI)Hs.505924
Alternative Splicing : Fast-db (Paris)GSHG0006806
Alternative Splicing GalleryENSG00000149948
Gene ExpressionHMGA2 [ NCBI-GEO ]     HMGA2 [ SEEK ]   HMGA2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP52926 (Uniprot)
NextProtP52926  [Medical]
With graphics : InterProP52926
Splice isoforms : SwissVarP52926 (Swissvar)
Domaine pattern : Prosite (Expaxy)HMGI_Y (PS00354)   
Domains : Interpro (EBI)AT_hook-like [organisation]   AT_hook_DNA-bd_motif [organisation]   HMGI/HMGY [organisation]   HMGI/Y_DNA-bd_CS [organisation]  
Related proteins : CluSTrP52926
Domain families : Pfam (Sanger)AT_hook (PF02178)   
Domain families : Pfam (NCBI)pfam02178   
Domain families : Smart (EMBL)AT_hook (SM00384)  
DMDM Disease mutations8091
Blocks (Seattle)P52926
Human Protein AtlasENSG00000149948 [gene] [tissue] [antibody] [cell] [cancer]
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
InParanoidP52926
Interologous Interaction database P52926
IntegromeDBHMGA2
STRING (EMBL)HMGA2
Ontologies - Pathways
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  nuclear chromosome  DNA catabolic process, endonucleolytic  regulatory region DNA binding  protein binding transcription factor activity  core promoter binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription  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  base-excision repair  chromatin organization  transcription, DNA-templated  regulation of transcription, DNA-templated  mitotic nuclear division  mitotic G2 DNA damage checkpoint  signal transduction  multicellular organismal development  spermatogenesis  transcription factor binding  DNA binding, bending  DNA binding, bending  male gonad development  response to virus  regulation of cell cycle process  positive regulation of gene expression  enzyme binding  cell proliferation in forebrain  pituitary gland development  chromosome condensation  adrenal gland development  chromosome breakage  nucleosomal DNA binding  heterochromatin assembly  protein-DNA complex  negative regulation of intracellular steroid hormone receptor signaling pathway  somatic stem cell maintenance  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  positive regulation of multicellular organism 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  negative regulation of JAK-STAT cascade  mesodermal cell differentiation  negative regulation of astrocyte differentiation  mesenchymal cell differentiation  stem cell differentiation  positive regulation of sequence-specific DNA binding transcription factor activity  5'-deoxyribose-5-phosphate lyase activity  regulation of growth hormone secretion  fat pad development  C2H2 zinc finger domain binding  SMAD protein complex  positive regulation of cell cycle arrest  oncogene-induced cell senescence  regulation of stem cell maintenance  regulation of stem cell 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  DNA catabolic process, endonucleolytic  regulatory region DNA binding  protein binding transcription factor activity  core promoter binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription  RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription  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  base-excision repair  chromatin organization  transcription, DNA-templated  regulation of transcription, DNA-templated  mitotic nuclear division  mitotic G2 DNA damage checkpoint  signal transduction  multicellular organismal development  spermatogenesis  transcription factor binding  DNA binding, bending  DNA binding, bending  male gonad development  response to virus  regulation of cell cycle process  positive regulation of gene expression  enzyme binding  cell proliferation in forebrain  pituitary gland development  chromosome condensation  adrenal gland development  chromosome breakage  nucleosomal DNA binding  heterochromatin assembly  protein-DNA complex  negative regulation of intracellular steroid hormone receptor signaling pathway  somatic stem cell maintenance  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  positive regulation of multicellular organism 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  negative regulation of JAK-STAT cascade  mesodermal cell differentiation  negative regulation of astrocyte differentiation  mesenchymal cell differentiation  stem cell differentiation  positive regulation of sequence-specific DNA binding transcription factor activity  5'-deoxyribose-5-phosphate lyase activity  regulation of growth hormone secretion  fat pad development  C2H2 zinc finger domain binding  SMAD protein complex  positive regulation of cell cycle arrest  oncogene-induced cell senescence  regulation of stem cell maintenance  regulation of stem cell 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   
Protein Interaction DatabaseHMGA2
Wikipedia pathwaysHMGA2
Gene fusion - rearrangments
Rearrangement : COSMICFHIT [3p14.2]  -  HMGA2 [12q14.3]  
  [COSF1024] [COSF1025] 
Rearrangement : COSMICHMGA2 [12q14.3]  -  ALDH2 [12q24.12]  
  [COSF1038] [COSF1039] 
Rearrangement : COSMICHMGA2 [12q14.3]  -  CCNB1IP1 [14q11.2]  
  [COSF983] [COSF984] 
Rearrangement : COSMICHMGA2 [12q14.3]  -  COX6C [8q22.2]  
  [COSF985] [COSF986] 
Rearrangement : COSMICHMGA2 [12q14.3]  -  EBF1 [5q33.3]  
  [COSF1020] [COSF1021] 
Rearrangement : COSMICHMGA2 [12q14.3]  -  FHIT [3p14.2]  
  [COSF1022] [COSF1023] 
Rearrangement : COSMICHMGA2 [12q14.3]  -  LHFP [13q13.3]  
  [COSF976] [COSF977] 
Rearrangement : COSMICHMGA2 [12q14.3]  -  LPP [3q28]  
  [COSF962] [COSF963] [COSF968] [COSF969] [COSF970] 
Rearrangement : COSMICHMGA2 [12q14.3]  -  NFIB [9p23]  
  [COSF795] [COSF796] [COSF955] [COSF956] 
Rearrangement : COSMICHMGA2 [12q14.3]  -  RAD51B [14q24.1]  
  [COSF981] [COSF982] 
Rearrangement : COSMICHMGA2 [12q14.3]  -  WIF1 [12q14.3]  
  [COSF1026] [COSF1027] [COSF1028] [COSF1029] [COSF1030] [COSF1031] [COSF1032] [COSF1033] [COSF1034] 
  [COSF1035] [COSF1036] [COSF1037] 
Rearrangement : COSMICLPP [3q28]  -  HMGA2 [12q14.3]  
  [COSF964] [COSF965] [COSF966] [COSF967] 
Rearrangement : COSMICRAD51B [14q24.1]  -  HMGA2 [12q14.3]  
  [COSF978] [COSF979] [COSF980] 
Rearrangement : TICdbHMGA2 [12q14.3]  -  CCNB1IP1 [3q27.3]
Rearrangement : TICdbHMGA2 [12q14.3]  -  COG5 [12q24.31]
Rearrangement : TICdbHMGA2 [12q14.3]  -  COX6C [11q13.3]
Rearrangement : TICdbHMGA2 [12q14.3]  -  FHIT [6p21.1]
Rearrangement : TICdbHMGA2 [12q14.3]  -  LPP [9p21.3]
Rearrangement : TICdbHMGA2 [12q14.3]  -  NFIB [1q23.3]
Rearrangement : TICdbHMGA2 [12q14.3]  -  RAD51B [1q23.1]
Rearrangement : TICdbHMGA2 [12q14.3]  -  WIF1 [3p13]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)HMGA2
snp3D : Map Gene to Disease8091
SNP (GeneSNP Utah)HMGA2
SNP : HGBaseHMGA2
Genetic variants : HAPMAPHMGA2
Exome VariantHMGA2
1000_GenomesHMGA2 
ICGC programENSG00000149948 
Cancer Gene: CensusHMGA2 
Somatic Mutations in Cancer : COSMICHMGA2 
CONAN: Copy Number AnalysisHMGA2 
Mutations and Diseases : HGMDHMGA2
Genomic VariantsHMGA2  HMGA2 [DGVbeta]
dbVarHMGA2
ClinVarHMGA2
Pred. of missensesPolyPhen-2  SIFT(SG)  SIFT(JCVI)  Align-GVGD  MutAssessor  Mutanalyser  
Pred. splicesGeneSplicer  Human Splicing Finder  MaxEntScan  
Diseases
OMIM150699    600698   
MedgenHMGA2
GENETestsHMGA2
Disease Genetic AssociationHMGA2
Huge Navigator HMGA2 [HugePedia]  HMGA2 [HugeCancerGEM]
General knowledge
Homologs : HomoloGeneHMGA2
Homology/Alignments : Family Browser (UCSC)HMGA2
Phylogenetic Trees/Animal Genes : TreeFamHMGA2
Chemical/Protein Interactions : CTD8091
Chemical/Pharm GKB GenePA35093
Clinical trialHMGA2
Cancer Resource (Charite)ENSG00000149948
Other databases
Probes
ProbeCancer Cytogenetics (Bari)
Litterature
PubMed217 Pubmed reference(s) in Entrez
CoreMineHMGA2
iHOPHMGA2
OncoSearchHMGA2

Bibliography

Disruption of the architectural factor HMGI-C: DNA-binding AT hook motifs fused in lipomas to distinct transcriptional regulatory domains.
Ashar HR, Fejzo MS, Tkachenko A, Zhou X, Fletcher JA, Weremowicz S, Morton CC, Chada K
Cell. 1995 ; 82 (1) : 57-65.
PMID 7606786
 
Description of a novel fusion transcript between HMGI-C, a gene encoding for a member of the high mobility group proteins, and the mitochondrial aldehyde dehydrogenase gene.
Kazmierczak B, Hennig Y, Wanschura S, Rogalla P, Bartnitzke S, Van de Ven W, Bullerdiek J
Cancer research. 1995 ; 55 (24) : 6038-6039.
PMID 8521389
 
Recurrent rearrangements in the high mobility group protein gene, HMGI-C, in benign mesenchymal tumours.
Schoenmakers EF, Wanschura S, Mols R, Bullerdiek J, Van den Berghe H, Van de Ven WJ
Nature genetics. 1995 ; 10 (4) : 436-444.
PMID 7670494
 
Mutation responsible for the mouse pygmy phenotype in the developmentally regulated factor HMGI-C.
Zhou X, Benson KF, Ashar HR, Chada K
Nature. 1995 ; 376 (6543) : 771-774.
PMID 7651535
 
Fusion transcripts between the HMGIC gene and RTVL-H-related sequences in mesenchymal tumors without cytogenetic aberrations.
Kazmierczak B, Pohnke Y, Bullerdiek J
Genomics. 1996 ; 38 (2) : 223-226.
PMID 8954805
 
Amplification of a rearranged form of the high-mobility group protein gene HMGIC in OsA-CI osteosarcoma cells.
Kools PF, Van de Ven WJ
Cancer genetics and cytogenetics. 1996 ; 91 (1) : 1-7.
PMID 8908160
 
LPP, the preferred fusion partner gene of HMGIC in lipomas, is a novel member of the LIM protein gene family.
Petit MM, Mols R, Schoenmakers EF, Mandahl N, Van de Ven WJ
Genomics. 1996 ; 36 (1) : 118-129.
PMID 8812423
 
Translocation 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, Ashar HR, Krauter KS, Powell WL, Rein MS, Weremowicz S, Yoon SJ, Kucherlapati RS, Chada K, Morton CC
Genes, chromosomes & cancer. 1996 ; 17 (1) : 1-6.
PMID 8889500
 
Hidden paracentric inversions of chromosome arm 12q affecting the HMGIC gene.
Wanschura S, Dal Cin P, Kazmierczak B, Bartnitzke S, Van den Berghe H, Bullerdiek J
Genes, chromosomes & cancer. 1997 ; 18 (4) : 322-323.
PMID 9087575
 
Chromosomal translocations in benign tumors: the HMGI proteins.
Hess JL
American journal of clinical pathology. 1998 ; 109 (3) : 251-261.
PMID 9495195
 
The t(3;12)(q27;q14-q15) with underlying HMGIC-LPP fusion is not determining an adipocytic phenotype.
Rogalla P, Kazmierczak B, Meyer-Bolte K, Tran KH, Bullerdiek J
Genes, chromosomes & cancer. 1998 ; 22 (2) : 100-104.
PMID 9598796
 
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Contributor(s)

Written05-2000Florence Pedeutour
Laboratoire de Génétique des Tumeurs Solides, 5ème étage, Faculté de Médecine, 28 avenue de Valombrose, 06107 Nice cedex 2, France
Updated12-2005Karin Broberg
Molecular biologist, Dep. of Occupational and Environmental Medicine, Lund University Hospital, SE-221 85 Lund, Sweden

Citation

This paper should be referenced as such :
Broberg, K
HMGA2 (high mobility group AT-hook 2)
Atlas Genet Cytogenet Oncol Haematol. 2006;10(3):142-148.
Free online version   Free pdf version   [Bibliographic record ]
History of this paper:
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/2042/38311/1/12-2005-HMGICID82.pdf
URL : http://AtlasGeneticsOncology.org/Genes/HMGICID82.html

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