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].

high mobility group AT-hook 2MIM:600698Ensembl:ENSG00000149948HGNC:HGNC:5009PA3509312q14.3

GO terms in HMGA2

Term TypeEvidence TypeGO Term IDGO Des.
MFIDAGO:0000978RNA polymerase II proximal promoter sequence-specific DNA binding
MFISAGO:0000981RNA polymerase II transcription factor activity, sequence-specific DNA binding
MFIDAGO:0000989transcription factor activity, transcription factor binding
MFIDAGO:0001077transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding
MFIDAGO:0001078transcriptional repressor activity, RNA polymerase II proximal promoter sequence-specific DNA binding
MFNASGO:0003677DNA binding
MFIDAGO:0003680AT DNA binding
MFIMPGO:0003680AT DNA binding
MFIBAGO:0003700DNA-binding transcription factor activity
MFIBAGO:0003906DNA-(apurinic or apyrimidinic site) endonuclease activity
MFIDAGO:0003906DNA-(apurinic or apyrimidinic site) endonuclease activity
MFIDAGO:0004677DNA-dependent protein kinase activity
MFIPIGO:0005515protein binding
MFIPIGO:0008134transcription factor binding
MFIDAGO:0008301DNA binding, bending
MFIMPGO:0008301DNA binding, bending
MFIDAGO:0031492nucleosomal DNA binding
MFIDAGO:0035497cAMP response element binding
MFIDAGO:0035500MH2 domain binding
MFIDAGO:0035501MH1 domain binding
MFIDAGO:0044212transcription regulatory region DNA binding
MFIPIGO:0046332SMAD binding
MFIDAGO:00515755'-deoxyribose-5-phosphate lyase activity
MFIMPGO:0070742C2H2 zinc finger domain binding
CCISSGO:0000228nuclear chromosome
CCIDAGO:0032993protein-DNA complex
CCIDAGO:0035985senescence-associated heterochromatin focus
CCIDAGO:0071141SMAD protein complex
BPIDAGO:0000122negative regulation of transcription by RNA polymerase II
BPIMPGO:0001837epithelial to mesenchymal transition
BPIDAGO:0002062chondrocyte differentiation
BPIMPGO:0003131mesodermal-endodermal cell signaling
BPIBAGO:0006284base-excision repair
BPIDAGO:0006284base-excision repair
BPTASGO:0006325chromatin organization
BPIBAGO:0006355regulation of transcription, DNA-templated
BPIMPGO:0006355regulation of transcription, DNA-templated
BPIEAGO:0006366transcription by RNA polymerase II
BPIDAGO:0007095mitotic G2 DNA damage checkpoint
BPTASGO:0007275multicellular organism development
BPIEPGO:0009615response to virus
BPIDAGO:0010564regulation of cell cycle process
BPIDAGO:0010628positive regulation of gene expression
BPIEAGO:0030261chromosome condensation
BPIDAGO:0031052chromosome breakage
BPIDAGO:0031507heterochromatin assembly
BPIDAGO:0035978histone H2A-S139 phosphorylation
BPIDAGO:0035986senescence-associated heterochromatin focus assembly
BPIMPGO:0035987endodermal cell differentiation
BPIDAGO:0035988chondrocyte proliferation
BPIEAGO:0040008regulation of growth
BPIDAGO:0042769DNA damage response, detection of DNA damage
BPIDAGO:0043065positive regulation of apoptotic process
BPIDAGO:0043066negative regulation of apoptotic process
BPIDAGO:0043392negative regulation of DNA binding
BPIDAGO:0043922negative regulation by host of viral transcription
BPIMPGO:0045444fat cell differentiation
BPISSGO:0045766positive regulation of angiogenesis
BPIDAGO:0045869negative regulation of single stranded viral RNA replication via double stranded DNA intermediate
BPIDAGO:0045892negative regulation of transcription, DNA-templated
BPIMPGO:0045892negative regulation of transcription, DNA-templated
BPIDAGO:0045893positive regulation of transcription, DNA-templated
BPIMPGO:0045893positive regulation of transcription, DNA-templated
BPIDAGO:0045944positive regulation of transcription by RNA polymerase II
BPIMPGO:0048333mesodermal cell differentiation
BPIMPGO:0048762mesenchymal cell differentiation
BPIEPGO:0048863stem cell differentiation
BPIEAGO:0051301cell division
BPIDAGO:0071158positive regulation of cell cycle arrest
BPISSGO:0071864positive regulation of cell proliferation in bone marrow
BPIDAGO:0090402oncogene-induced cell senescence
BPIMPGO:2000036regulation of stem cell population maintenance
BPTASGO:2000036regulation of stem cell population maintenance
BPIDAGO:2000648positive regulation of stem cell proliferation
BPIMPGO:2000648positive regulation of stem cell proliferation
BPIDAGO:2000679positive regulation of transcription regulatory region DNA binding
BPIDAGO:2000685positive regulation of cellular response to X-ray
BPISSGO:2000773negative regulation of cellular senescence
BPIMPGO:2000774positive regulation of cellular senescence
BPIDAGO:2001022positive regulation of response to DNA damage stimulus
BPIDAGO:2001033negative regulation of double-strand break repair via nonhomologous end joining
BPIDAGO:2001038regulation 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

DatabasePathway IDPathway Des.
reactomeR-HSA-2262752Cellular responses to stress
reactomeR-HSA-2559583Cellular Senescence
reactomeR-HSA-2559584Formation of Senescence-Associated Heterochromatin Foci (SAHF)
reactomeR-HSA-2559586DNA Damage/Telomere Stress Induced Senescence
reactomeR-HSA-8953897Cellular responses to external stimuli
wikipathwaysWP2857Mesodermal Commitment Pathway
kegghsa05202Transcriptional misregulation in cancer - Homo sapiens (human)
kegghsa05206MicroRNAs in cancer - Homo sapiens (human)

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.
iGMDRD523Cyanoquinoline, 112
iGMDRD885Compound 1101

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in HMGA2