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Aliases for HMGA2 Gene

Aliases for HMGA2 Gene

  • High Mobility Group AT-Hook 2 2 3
  • High-Mobility Group (Nonhistone Chromosomal) Protein Isoform I-C 2 3
  • HMGIC 3 4
  • High Mobility Group AT-Hook Protein 2 4
  • High-Mobility Group Protein HMGI-C 3
  • HMGI-C 3
  • STQTL9 3
  • BABL 3
  • LIPO 3

External Ids for HMGA2 Gene

Previous HGNC Symbols for HMGA2 Gene

  • HMGIC

Previous GeneCards Identifiers for HMGA2 Gene

  • GC12P065624
  • GC12P066105
  • GC12P065934
  • GC12P064504
  • GC12P066218
  • GC12P063271

Summaries for HMGA2 Gene

Entrez Gene Summary for HMGA2 Gene

  • This gene encodes a protein that belongs to the non-histone chromosomal high mobility group (HMG) protein family. HMG proteins function as architectural factors and are essential components of the enhancesome. This protein contains structural DNA-binding domains and may act as a transcriptional regulating factor. Identification of the deletion, amplification, and rearrangement of this gene that are associated with myxoid liposarcoma suggests a role in adipogenesis and mesenchymal differentiation. A gene knock out study of the mouse counterpart demonstrated that this gene is involved in diet-induced obesity. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

GeneCards Summary for HMGA2 Gene

HMGA2 (High Mobility Group AT-Hook 2) is a Protein Coding gene. Diseases associated with HMGA2 include 12q14 microdeletion syndrome and leiomyoma, uterine, somatic. Among its related pathways are MicroRNAs in cancer and Cellular Senescence. GO annotations related to this gene include enzyme binding and transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding.

UniProtKB/Swiss-Prot for HMGA2 Gene

  • Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2. Plays an important role in chromosome condensation during the meiotic G2/M transition of spermatocytes.

Gene Wiki entry for HMGA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for HMGA2 Gene

Genomics for HMGA2 Gene

Regulatory Elements for HMGA2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for HMGA2 Gene

Chromosome:
12
Start:
65,824,131 bp from pter
End:
65,966,295 bp from pter
Size:
142,165 bases
Orientation:
Plus strand

Genomic View for HMGA2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for HMGA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for HMGA2 Gene

Proteins for HMGA2 Gene

  • Protein details for HMGA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P52926-HMGA2_HUMAN
    Recommended name:
    High mobility group protein HMGI-C
    Protein Accession:
    P52926
    Secondary Accessions:
    • E7EP85
    • E7EWA2
    • Q1M182
    • Q1M185
    • Q1M186
    • Q1M187
    • Q1M188

    Protein attributes for HMGA2 Gene

    Size:
    109 amino acids
    Molecular mass:
    11832 Da
    Quaternary structure:
    • Interacts with E4F1. Interacts with NEK2 (By similarity).

    Alternative splice isoforms for HMGA2 Gene

neXtProt entry for HMGA2 Gene

Proteomics data for HMGA2 Gene at MOPED

Post-translational modifications for HMGA2 Gene

  • Regulated by cell cycle-dependent phosphorylation which alters its DNA binding affinity. Phosphorylated by NEK2 (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for HMGA2 (HMGA2)

No data available for DME Specific Peptides for HMGA2 Gene

Domains & Families for HMGA2 Gene

Gene Families for HMGA2 Gene

Suggested Antigen Peptide Sequences for HMGA2 Gene

Graphical View of Domain Structure for InterPro Entry

P52926

UniProtKB/Swiss-Prot:

HMGA2_HUMAN :
  • Contains 3 A.T hook DNA-binding domains.
  • Belongs to the HMGA family.
Domain:
  • Contains 3 A.T hook DNA-binding domains.
Family:
  • Belongs to the HMGA family.
genes like me logo Genes that share domains with HMGA2: view

Function for HMGA2 Gene

Molecular function for HMGA2 Gene

UniProtKB/Swiss-Prot Function:
Functions as a transcriptional regulator. Functions in cell cycle regulation through CCNA2. Plays an important role in chromosome condensation during the meiotic G2/M transition of spermatocytes.

Gene Ontology (GO) - Molecular Function for HMGA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000975 regulatory region DNA binding IDA 17426251
GO:0000989 contributes_to transcription factor activity, transcription factor binding IDA 18832382
GO:0001047 core promoter binding IDA 14627817
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 18832382
GO:0001078 transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding IDA 14627817
genes like me logo Genes that share ontologies with HMGA2: view
genes like me logo Genes that share phenotypes with HMGA2: view

Animal Models for HMGA2 Gene

MGI Knock Outs for HMGA2:

Animal Model Products

miRNA for HMGA2 Gene

miRTarBase miRNAs that target HMGA2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HMGA2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for HMGA2 Gene

Localization for HMGA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for HMGA2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for HMGA2 Gene COMPARTMENTS Subcellular localization image for HMGA2 gene
Compartment Confidence
nucleus 5
extracellular 2
plasma membrane 2
cytoskeleton 1
cytosol 1
lysosome 1
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for HMGA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000228 nuclear chromosome ISS --
GO:0000785 chromatin --
GO:0005634 nucleus IDA 16791210
GO:0005654 nucleoplasm TAS --
GO:0032993 protein-DNA complex IDA 19465398
genes like me logo Genes that share ontologies with HMGA2: view

Pathways & Interactions for HMGA2 Gene

genes like me logo Genes that share pathways with HMGA2: view

SIGNOR curated interactions for HMGA2 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for HMGA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IDA 14627817
GO:0001837 epithelial to mesenchymal transition IMP 18832382
GO:0002062 chondrocyte differentiation IDA 21484705
GO:0003131 mesodermal-endodermal cell signaling IMP 17624332
GO:0006284 base-excision repair IDA 19465398
genes like me logo Genes that share ontologies with HMGA2: view

Drugs & Compounds for HMGA2 Gene

(2) Drugs for HMGA2 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2437
Doxorubicin Approved, Investigational Pharma Topo II inhibitor,immunosuppresive antineoplastic antibiotic 1525

(5) Additional Compounds for HMGA2 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Actinomycin D
DBDS
HMGA
Paraffin
retinoic acid
302-79-4
genes like me logo Genes that share compounds with HMGA2: view

Transcripts for HMGA2 Gene

Unigene Clusters for HMGA2 Gene

High mobility group AT-hook 2:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for HMGA2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for HMGA2 Gene

No ASD Table

Relevant External Links for HMGA2 Gene

GeneLoc Exon Structure for
HMGA2
ECgene alternative splicing isoforms for
HMGA2

Expression for HMGA2 Gene

mRNA expression in normal human tissues for HMGA2 Gene

Protein differential expression in normal tissues from HIPED for HMGA2 Gene

This gene is overexpressed in Amniocyte (48.6) and Fetal ovary (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for HMGA2 Gene



SOURCE GeneReport for Unigene cluster for HMGA2 Gene Hs.505924

genes like me logo Genes that share expression patterns with HMGA2: view

Protein tissue co-expression partners for HMGA2 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for HMGA2 Gene

Orthologs for HMGA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for HMGA2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia HMGA2 35
  • 96.94 (n)
  • 100 (a)
HMGA2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Hmga2 16
Hmga2 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia HMGA2 36
  • 48 (a)
OneToOne
chicken
(Gallus gallus)
Aves HMGA2 35
  • 82.87 (n)
  • 91.74 (a)
HMGI-C 36
  • 100 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia HMGA2 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8936 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.33871 35
zebrafish
(Danio rerio)
Actinopterygii hmga2 36
  • 48 (a)
OneToOne
Species with no ortholog for HMGA2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for HMGA2 Gene

ENSEMBL:
Gene Tree for HMGA2 (if available)
TreeFam:
Gene Tree for HMGA2 (if available)

Paralogs for HMGA2 Gene

genes like me logo Genes that share paralogs with HMGA2: view

No data available for Paralogs for HMGA2 Gene

Variants for HMGA2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for HMGA2 Gene

P52926-HMGA2_HUMAN
Genetic variations in HMGA2 define the stature quantitative trait locus 9 (STQTL9) [MIM:611547]. Human height is a classic, highly heritable quantitative trait

Sequence variations from dbSNP and Humsavar for HMGA2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs73121716 -- 65,924,437(+) CCTAC(C/T)GCAAG intron-variant
rs76013216 -- 65,959,692(+) TTCCC(A/C)CCCTG intron-variant
rs75968705 -- 65,935,484(+) CACGT(C/G)TGTTT intron-variant
rs75946557 -- 65,845,583(+) TTTTT(-/A/T)AAAAA intron-variant
rs75843835 -- 65,963,836(+) CTTTT(C/T)CGTAT utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for HMGA2 Gene

Variant ID Type Subtype PubMed ID
nsv507649 CNV Insertion 20534489
esv8071 CNV Gain 19470904

Variation tolerance for HMGA2 Gene

Residual Variation Intolerance Score: 57.58% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.28; 25.45% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for HMGA2 Gene

HapMap Linkage Disequilibrium report
HMGA2
Human Gene Mutation Database (HGMD)
HMGA2

Disorders for HMGA2 Gene

MalaCards: The human disease database

(54) MalaCards diseases for HMGA2 Gene - From: OMIM, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
12q14 microdeletion syndrome
  • del(12)(q14)
leiomyoma, uterine, somatic
atypical lipomatous tumor
  • liposarcoma, well differentiated
leiomyoma
  • leiomyomatous neoplasm
benign mesenchymoma
  • mesenchymoma, benign
- elite association
Search HMGA2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

HMGA2_HUMAN
  • Note=A chromosomal aberration involving HMGA2 is associated with a subclass of benign mesenchymal tumors known as lipomas. Translocation t(3;12)(q27-q28;q13-q15) with LPP is shown in lipomas. HMGA2 is also fused with a number of other genes in lipomas.
  • Note=A chromosomal aberration involving HMGA2 is associated with parosteal lipomas. Translocation t(3;12)(q28;q14) with LPP is also shown in one parosteal lipoma.
  • Note=A chromosomal aberration involving HMGA2 is associated with pulmonary chondroid hamartomas. Translocation t(3;12)(q27-q28;q14-q15) with LPP is detected in pulmonary chondroid hamartomas.
  • Note=A chromosomal aberration involving HMGA2 is found in uterine leiomyoma. Translocation t(12;14)(q15;q23-24) with RAD51B. Chromosomal rearrangements involving HMGA2 do not seem to be the principle pathobiological mechanism in uterine leiomyoma.

Relevant External Links for HMGA2

Genetic Association Database (GAD)
HMGA2
Human Genome Epidemiology (HuGE) Navigator
HMGA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
HMGA2
genes like me logo Genes that share disorders with HMGA2: view

No data available for Genatlas for HMGA2 Gene

Publications for HMGA2 Gene

  1. Genomic characterization of human HMGIC, a member of the accessory transcription factor family found at translocation breakpoints in lipomas. (PMID: 8824803) Ashar H.R. … Chada K. (Genomics 1996) 2 23 67
  2. HMGA2: a biomarker significantly overexpressed in high-grade ovarian serous carcinoma. (PMID: 20228781) Mahajan A. … Wei J.J. (Mod. Pathol. 2010) 23 67
  3. HMGA2: a potential biomarker complement to P53 for detection of early-stage high-grade papillary serous carcinoma in fallopian tubes. (PMID: 19898227) Wei J.J. … Liu J. (Am. J. Surg. Pathol. 2010) 23 67
  4. HMGA2 is confirmed to be associated with human adult height. (PMID: 19930247) Yang T.L. … Deng H.W. (Ann. Hum. Genet. 2010) 23 67
  5. Loss of let-7 binding sites resulting from truncations of the 3' untranslated region of HMGA2 mRNA in uterine leiomyomas. (PMID: 20082846) Klemke M. … Bullerdiek J. (Cancer Genet. Cytogenet. 2010) 23 67

Products for HMGA2 Gene

Sources for HMGA2 Gene

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