Version 5.4
Homo sapiens Gene: HMGA2
Summary
InnateDB Gene IDBG-45426.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol HMGA2
Gene Name high mobility group AT-hook 2
Synonyms BABL; HMGI-C; HMGIC; LIPO; STQTL9
Species Homo sapiens
Ensembl Gene ENSG00000149948
Encoded Proteins
IDBP-45428
high mobility group AT-hook 2
IDBP-243352
high mobility group AT-hook 2
IDBP-243354
high mobility group AT-hook 2
IDBP-295214
high mobility group AT-hook 2
IDBP-379519
high mobility group AT-hook 2
IDBP-591028
high mobility group AT-hook 2
IDBP-586354
high mobility group AT-hook 2
IDBP-585745
high mobility group AT-hook 2
IDBP-601588
high mobility group AT-hook 2
IDBP-583633
high mobility group AT-hook 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 12:65824131-65966295
Strand Forward strand
Band q14.3
Transcripts
ENST00000354636 ENSP00000346658
ENST00000393578 ENSP00000377206
ENST00000393577 ENSP00000377205
ENST00000403681 ENSP00000384026
ENST00000425208 ENSP00000407306
ENST00000537275 ENSP00000437747
ENST00000537429 ENSP00000443372
ENST00000536545 ENSP00000437621
ENST00000545998
ENST00000541363 ENSP00000439317
ENST00000539662 ENSP00000440919
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.
Experimentally validated
Total 23 [view]
Protein-Protein 22 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 4 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000975 regulatory region DNA binding
GO:0000988 protein binding transcription factor activity
GO:0001047 core promoter binding
GO:0001077 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001078 RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0003677 DNA binding
GO:0003680 AT DNA binding
GO:0003906 DNA-(apurinic or apyrimidinic site) lyase activity
GO:0004677 DNA-dependent protein kinase activity
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0008301 DNA binding, bending
GO:0019899 enzyme binding
GO:0031492 nucleosomal DNA binding
GO:0035497 cAMP response element binding
GO:0035500 MH2 domain binding
GO:0035501 MH1 domain binding
GO:0046332 SMAD binding
GO:0051575 5'-deoxyribose-5-phosphate lyase activity
GO:0070742 C2H2 zinc finger domain binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000737 DNA catabolic process, endonucleolytic
GO:0001837 epithelial to mesenchymal transition
GO:0002062 chondrocyte differentiation
GO:0003131 mesodermal-endodermal cell signaling
GO:0006284 base-excision repair
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007067 mitotic nuclear division
GO:0007095 mitotic G2 DNA damage checkpoint
GO:0007165 signal transduction
GO:0007275 multicellular organismal development
GO:0007283 spermatogenesis
GO:0008283 cell proliferation
GO:0008284 positive regulation of cell proliferation
GO:0008584 male gonad development
GO:0009615 response to virus
GO:0010564 regulation of cell cycle process
GO:0010628 positive regulation of gene expression
GO:0021846 cell proliferation in forebrain
GO:0021983 pituitary gland development
GO:0030261 chromosome condensation
GO:0030325 adrenal gland development
GO:0031052 chromosome breakage
GO:0031507 heterochromatin assembly
GO:0033144 negative regulation of intracellular steroid hormone receptor signaling pathway
GO:0035019 somatic stem cell maintenance
GO:0035978 histone H2A-S139 phosphorylation
GO:0035986 senescence-associated heterochromatin focus assembly
GO:0035987 endodermal cell differentiation
GO:0035988 chondrocyte proliferation
GO:0040018 positive regulation of multicellular organism growth
GO:0042769 DNA damage response, detection of DNA damage
GO:0043065 positive regulation of apoptotic process
GO:0043066 negative regulation of apoptotic process
GO:0043392 negative regulation of DNA binding
GO:0043922 negative regulation by host of viral transcription
GO:0045444 fat cell differentiation
GO:0045869 negative regulation of single stranded viral RNA replication via double stranded DNA intermediate
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0046426 negative regulation of JAK-STAT cascade
GO:0048333 mesodermal cell differentiation
GO:0048712 negative regulation of astrocyte differentiation
GO:0048762 mesenchymal cell differentiation
GO:0048863 stem cell differentiation
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0060123 regulation of growth hormone secretion
GO:0060612 adipose tissue development
GO:0060613 fat pad development
GO:0071158 positive regulation of cell cycle arrest
GO:0090276 regulation of peptide hormone secretion
GO:0090402 oncogene-induced cell senescence
GO:2000036 regulation of stem cell maintenance
GO:2000648 positive regulation of stem cell proliferation
GO:2000679 positive regulation of transcription regulatory region DNA binding
GO:2000685 positive regulation of cellular response to X-ray
GO:2000774 positive regulation of cellular senescence
GO:2001022 positive regulation of response to DNA damage stimulus
GO:2001033 negative regulation of double-strand break repair via nonhomologous end joining
GO:2001038 regulation of cellular response to drug
Cellular Component
GO:0000228 nuclear chromosome
GO:0000785 chromatin
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0032993 protein-DNA complex
GO:0035985 senescence-associated heterochromatin focus
GO:0071141 SMAD protein complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000056758
View Gene Order
ENSBTAG00000044118
Not yet available
Pathways
NETPATH
REACTOME
REACT_120956
Cellular responses to stress pathway
REACT_169121
Formation of Senescence-Associated Heterochromatin Foci (SAHF) pathway
REACT_169185
DNA Damage/Telomere Stress Induced Senescence pathway
REACT_169274
Cellular Senescence pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.505924
RefSeq NM_001300918 NM_001300919 NM_003483 NM_003484 XM_005269164 XM_006719620
HUGO
OMIM
CCDS CCDS31854 CCDS44936 CCDS73491 CCDS73492
HPRD 02827
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca