HMGA2
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| high mobility group AT-hook 2 | MIM:600698 | Ensembl:ENSG00000149948 | HGNC:HGNC:5009 | PA35093 | 12q14.3 |
GO terms in HMGA2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | ISA | GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding |
| MF | IDA | GO:0000989 | transcription factor activity, transcription factor binding |
| MF | IDA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IDA | GO:0001078 | transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | NAS | GO:0003677 | DNA binding |
| MF | IDA | GO:0003680 | AT DNA binding |
| MF | IMP | GO:0003680 | AT DNA binding |
| MF | IBA | GO:0003700 | DNA-binding transcription factor activity |
| MF | IBA | GO:0003906 | DNA-(apurinic or apyrimidinic site) endonuclease activity |
| MF | IDA | GO:0003906 | DNA-(apurinic or apyrimidinic site) endonuclease activity |
| MF | IDA | GO:0004677 | DNA-dependent protein kinase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0008134 | transcription factor binding |
| MF | IDA | GO:0008301 | DNA binding, bending |
| MF | IMP | GO:0008301 | DNA binding, bending |
| MF | IDA | GO:0031492 | nucleosomal DNA binding |
| MF | IDA | GO:0035497 | cAMP response element binding |
| MF | IDA | GO:0035500 | MH2 domain binding |
| MF | IDA | GO:0035501 | MH1 domain binding |
| MF | IDA | GO:0044212 | transcription regulatory region DNA binding |
| MF | IPI | GO:0046332 | SMAD binding |
| MF | IDA | GO:0051575 | 5'-deoxyribose-5-phosphate lyase activity |
| MF | IMP | GO:0070742 | C2H2 zinc finger domain binding |
| CC | ISS | GO:0000228 | nuclear chromosome |
| CC | HDA | GO:0005634 | nucleus |
| CC | IBA | GO:0005634 | nucleus |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0032993 | protein-DNA complex |
| CC | IDA | GO:0035985 | senescence-associated heterochromatin focus |
| CC | IDA | GO:0071141 | SMAD protein complex |
| BP | IDA | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0001837 | epithelial to mesenchymal transition |
| BP | IDA | GO:0002062 | chondrocyte differentiation |
| BP | IMP | GO:0003131 | mesodermal-endodermal cell signaling |
| BP | IBA | GO:0006284 | base-excision repair |
| BP | IDA | GO:0006284 | base-excision repair |
| BP | TAS | GO:0006325 | chromatin organization |
| BP | IBA | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IMP | GO:0006355 | regulation of transcription, DNA-templated |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | IDA | GO:0007095 | mitotic G2 DNA damage checkpoint |
| BP | TAS | GO:0007275 | multicellular organism development |
| BP | IEP | GO:0009615 | response to virus |
| BP | IDA | GO:0010564 | regulation of cell cycle process |
| BP | IDA | GO:0010628 | positive regulation of gene expression |
| BP | IEA | GO:0030261 | chromosome condensation |
| BP | IDA | GO:0031052 | chromosome breakage |
| BP | IDA | GO:0031507 | heterochromatin assembly |
| BP | IDA | GO:0035978 | histone H2A-S139 phosphorylation |
| BP | IDA | GO:0035986 | senescence-associated heterochromatin focus assembly |
| BP | IMP | GO:0035987 | endodermal cell differentiation |
| BP | IDA | GO:0035988 | chondrocyte proliferation |
| BP | IEA | GO:0040008 | regulation of growth |
| BP | IDA | GO:0042769 | DNA damage response, detection of DNA damage |
| BP | IDA | GO:0043065 | positive regulation of apoptotic process |
| BP | IDA | GO:0043066 | negative regulation of apoptotic process |
| BP | IDA | GO:0043392 | negative regulation of DNA binding |
| BP | IDA | GO:0043922 | negative regulation by host of viral transcription |
| BP | IMP | GO:0045444 | fat cell differentiation |
| BP | ISS | GO:0045766 | positive regulation of angiogenesis |
| BP | IDA | GO:0045869 | negative regulation of single stranded viral RNA replication via double stranded DNA intermediate |
| BP | IDA | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IMP | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IDA | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IMP | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IMP | GO:0048333 | mesodermal cell differentiation |
| BP | IMP | GO:0048762 | mesenchymal cell differentiation |
| BP | IEP | GO:0048863 | stem cell differentiation |
| BP | IEA | GO:0051301 | cell division |
| BP | IDA | GO:0071158 | positive regulation of cell cycle arrest |
| BP | ISS | GO:0071864 | positive regulation of cell proliferation in bone marrow |
| BP | IDA | GO:0090402 | oncogene-induced cell senescence |
| BP | IMP | GO:2000036 | regulation of stem cell population maintenance |
| BP | TAS | GO:2000036 | regulation of stem cell population maintenance |
| BP | IDA | GO:2000648 | positive regulation of stem cell proliferation |
| BP | IMP | GO:2000648 | positive regulation of stem cell proliferation |
| BP | IDA | GO:2000679 | positive regulation of transcription regulatory region DNA binding |
| BP | IDA | GO:2000685 | positive regulation of cellular response to X-ray |
| BP | ISS | GO:2000773 | negative regulation of cellular senescence |
| BP | IMP | GO:2000774 | positive regulation of cellular senescence |
| BP | IDA | GO:2001022 | positive regulation of response to DNA damage stimulus |
| BP | IDA | GO:2001033 | negative regulation of double-strand break repair via nonhomologous end joining |
| BP | IDA | GO:2001038 | regulation of cellular response to drug |
Gene expression in normal tissue: HMGA2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in HMGA2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-2262752 | Cellular responses to stress |
| reactome | R-HSA-2559583 | Cellular Senescence |
| reactome | R-HSA-2559584 | Formation of Senescence-Associated Heterochromatin Foci (SAHF) |
| reactome | R-HSA-2559586 | DNA Damage/Telomere Stress Induced Senescence |
| reactome | R-HSA-8953897 | Cellular responses to external stimuli |
| wikipathways | WP2857 | Mesodermal Commitment Pathway |
| kegg | hsa05202 | Transcriptional misregulation in cancer - Homo sapiens (human) |
| kegg | hsa05206 | MicroRNAs in cancer - Homo sapiens (human) |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD599 | Salermide | 6 |
| iGMDRD255 | SB225002 | 1 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD330 | BRD4132 | 3 |
| iGMDRD554 | CHEMBL1434137 | 3 |
| iGMDRD523 | Cyanoquinoline, 11 | 2 |
| iGMDRD885 | Compound 110 | 1 |
| iGMDRD6 | AM-580 | 3 |
| iGMDRD237 | ABT-751 | 6 |
| iGMDRD414 | MST-312 | 3 |
| iGMDRD797 | ISOX DUAL | 2 |
| iGMDRD399 | Selumetinib | 3 |
| iGMDRD353 | PD0325901 | 2 |
| iGMDRD640 | CAY10618 | 3 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in HMGA2
CLASSFICATION
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