Endometriosis Knowledgebase

Search Result

Gene id

8091

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

HMGA2 Gene UCSC Ensembl

Aliases

BABL, HMGI-C, HMGIC, LIPO, STQTL9

Gene name

high mobility group AT-hook 2

Alternate names

high mobility group protein HMGI-C, high-mobility group (nonhistone chromosomal) protein isoform I-C,

Gene location

12q14.3 (65824459: 65966290) Exons: 8 NC_000012.12

Gene summary(Entrez)

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]

OMIM

600698

Protein Summary

Protein general information

P52926

Name: High mobility group protein HMGI C (High mobility group AT hook protein 2)

Length: 109 Mass: 11,832

Sequence

MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKR
PRGRPRKWPQQVVQKKPAQEETEETSSQESAEED

Structural information

Interpro:	IPR017956 IPR000116 IPR000637
Prosite:	PS00354
Pfam:	PF02178
STRING:	ENSP00000384026;

Other Databases

GeneCards: HMGA2; Malacards: HMGA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000228	nuclear chromosome	ISS	cellular_component
GO:0000975	regulatory region DNA bin ding	IDA	molecular_function
GO:0001047	core promoter binding	IDA	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular_function
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular_function
GO:0001837	epithelial to mesenchymal transition	IMP	biological_process
GO:0002062	chondrocyte differentiati on	IDA	biological_process
GO:0003131	mesodermal-endodermal cel l signaling	IMP	biological_process
GO:0003677	DNA binding	NAS	molecular_function
GO:0003680	AT DNA binding	IDA	molecular_function
GO:0003680	AT DNA binding	IDA	molecular_function
GO:0003680	AT DNA binding	IDA	molecular_function
GO:0003680	AT DNA binding	IMP	molecular_function
GO:0003680	AT DNA binding	IDA	molecular_function
GO:0003680	AT DNA binding	IDA	molecular_function
GO:0003906	DNA-(apurinic or apyrimid inic site) lyase activity	IDA	molecular_function
GO:0004677	DNA-dependent protein kin ase activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0006284	base-excision repair	IDA	biological_process
GO:0006325	chromatin organization	TAS	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IMP	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0007067	mitotic nuclear division	IEA	biological_process
GO:0007095	mitotic G2 DNA damage che ckpoint	IDA	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008301	DNA binding, bending	IMP	molecular_function
GO:0008301	DNA binding, bending	IDA	molecular_function
GO:0009615	response to virus	IEP	biological_process
GO:0010564	regulation of cell cycle process	IDA	biological_process
GO:0010628	positive regulation of ge ne expression	IDA	biological_process
GO:0030261	chromosome condensation	IEA	biological_process
GO:0031052	chromosome breakage	IDA	biological_process
GO:0031492	nucleosomal DNA binding	IDA	molecular_function
GO:0031507	heterochromatin assembly	IDA	biological_process
GO:0032993	protein-DNA complex	IDA	cellular_component
GO:0035497	cAMP response element bin ding	IDA	molecular_function
GO:0035500	MH2 domain binding	IDA	molecular_function
GO:0035501	MH1 domain binding	IDA	molecular_function
GO:0035978	histone H2A-S139 phosphor ylation	IDA	biological_process
GO:0035985	senescence-associated het erochromatin focus	IDA	cellular_component
GO:0035986	senescence-associated het erochromatin focus assemb ly	IDA	biological_process
GO:0035987	endodermal cell different iation	IMP	biological_process
GO:0035988	chondrocyte proliferation	IDA	biological_process
GO:0040008	regulation of growth	IEA	biological_process
GO:0042769	DNA damage response, dete ction of DNA damage	IDA	biological_process
GO:0043065	positive regulation of ap optotic process	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	IDA	biological_process
GO:0043392	negative regulation of DN A binding	IDA	biological_process
GO:0043922	negative regulation by ho st of viral transcription	IDA	biological_process
GO:0045444	fat cell differentiation	IMP	biological_process
GO:0045444	fat cell differentiation	IMP	biological_process
GO:0045869	negative regulation of si ngle stranded viral RNA r eplication via double str anded DNA intermediate	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0046332	SMAD binding	IPI	molecular_function
GO:0048333	mesodermal cell different iation	IMP	biological_process
GO:0048762	mesenchymal cell differen tiation	IMP	biological_process
GO:0048762	mesenchymal cell differen tiation	IMP	biological_process
GO:0048863	stem cell differentiation	IEP	biological_process
GO:0051301	cell division	IEA	biological_process
GO:0051575	5'-deoxyribose-5-phosphat e lyase activity	IDA	molecular_function
GO:0070742	C2H2 zinc finger domain b inding	IMP	molecular_function
GO:0071141	SMAD protein complex	IDA	cellular_component
GO:0071158	positive regulation of ce ll cycle arrest	IDA	biological_process
GO:0090402	oncogene-induced cell sen escence	IDA	biological_process
GO:2000036	regulation of stem cell p opulation maintenance	IMP	biological_process
GO:2000036	regulation of stem cell p opulation maintenance	TAS	biological_process
GO:2000648	positive regulation of st em cell proliferation	IMP	biological_process
GO:2000648	positive regulation of st em cell proliferation	IDA	biological_process
GO:2000679	positive regulation of tr anscription regulatory re gion DNA binding	IDA	biological_process
GO:2000685	positive regulation of ce llular response to X-ray	IDA	biological_process
GO:2000774	positive regulation of ce llular senescence	IMP	biological_process
GO:2001022	positive regulation of re sponse to DNA damage stim ulus	IDA	biological_process
GO:2001022	positive regulation of re sponse to DNA damage stim ulus	IDA	biological_process
GO:2001033	negative regulation of do uble-strand break repair via nonhomologous end joi ning	IDA	biological_process
GO:2001038	regulation of cellular re sponse to drug	IDA	biological_process
GO:0000989	transcription factor acti vity, transcription facto r binding	IDA	molecular_function
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000228	nuclear chromosome	ISS	cellular_component
GO:0000785	chromatin	IEA	cellular_component
GO:0000975	regulatory region DNA bin ding	IDA	molecular_function
GO:0001047	core promoter binding	IDA	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular_function
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular_function
GO:0001837	epithelial to mesenchymal transition	IMP	biological_process
GO:0002062	chondrocyte differentiati on	IDA	biological_process
GO:0003131	mesodermal-endodermal cel l signaling	IMP	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	NAS	molecular_function
GO:0003680	AT DNA binding	IDA	molecular_function
GO:0003680	AT DNA binding	IDA	molecular_function
GO:0003680	AT DNA binding	IDA	molecular_function
GO:0003680	AT DNA binding	IMP	molecular_function
GO:0003680	AT DNA binding	IDA	molecular_function
GO:0003680	AT DNA binding	IDA	molecular_function
GO:0003680	AT DNA binding	TAS	molecular_function
GO:0003906	DNA-(apurinic or apyrimid inic site) lyase activity	IDA	molecular_function
GO:0004677	DNA-dependent protein kin ase activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0006284	base-excision repair	IDA	biological_process
GO:0006325	chromatin organization	TAS	biological_process
GO:0006325	chromatin organization	TAS	biological_process
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IMP	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	IEA	biological_process
GO:0007049	cell cycle	IEA	biological_process
GO:0007067	mitotic nuclear division	IEA	biological_process
GO:0007095	mitotic G2 DNA damage che ckpoint	IDA	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008301	DNA binding, bending	IMP	molecular_function
GO:0008301	DNA binding, bending	IDA	molecular_function
GO:0009615	response to virus	IEP	biological_process
GO:0010564	regulation of cell cycle process	IDA	biological_process
GO:0010628	positive regulation of ge ne expression	IDA	biological_process
GO:0030261	chromosome condensation	IEA	biological_process
GO:0031052	chromosome breakage	IDA	biological_process
GO:0031492	nucleosomal DNA binding	IDA	molecular_function
GO:0031507	heterochromatin assembly	IDA	biological_process
GO:0032993	protein-DNA complex	IDA	cellular_component
GO:0035497	cAMP response element bin ding	IDA	molecular_function
GO:0035500	MH2 domain binding	IDA	molecular_function
GO:0035501	MH1 domain binding	IDA	molecular_function
GO:0035978	histone H2A-S139 phosphor ylation	IDA	biological_process
GO:0035985	senescence-associated het erochromatin focus	IDA	cellular_component
GO:0035986	senescence-associated het erochromatin focus assemb ly	IDA	biological_process
GO:0035987	endodermal cell different iation	IMP	biological_process
GO:0035988	chondrocyte proliferation	IDA	biological_process
GO:0040008	regulation of growth	IEA	biological_process
GO:0042769	DNA damage response, dete ction of DNA damage	IDA	biological_process
GO:0043065	positive regulation of ap optotic process	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	IDA	biological_process
GO:0043392	negative regulation of DN A binding	IDA	biological_process
GO:0043922	negative regulation by ho st of viral transcription	IDA	biological_process
GO:0045444	fat cell differentiation	IMP	biological_process
GO:0045444	fat cell differentiation	IMP	biological_process
GO:0045869	negative regulation of si ngle stranded viral RNA r eplication via double str anded DNA intermediate	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0046332	SMAD binding	IPI	molecular_function
GO:0048333	mesodermal cell different iation	IMP	biological_process
GO:0048762	mesenchymal cell differen tiation	IMP	biological_process
GO:0048762	mesenchymal cell differen tiation	IMP	biological_process
GO:0048863	stem cell differentiation	IEP	biological_process
GO:0051301	cell division	IEA	biological_process
GO:0051575	5'-deoxyribose-5-phosphat e lyase activity	IDA	molecular_function
GO:0070742	C2H2 zinc finger domain b inding	IMP	molecular_function
GO:0071141	SMAD protein complex	IDA	cellular_component
GO:0071158	positive regulation of ce ll cycle arrest	IDA	biological_process
GO:0090402	oncogene-induced cell sen escence	IDA	biological_process
GO:2000036	regulation of stem cell p opulation maintenance	IMP	biological_process
GO:2000036	regulation of stem cell p opulation maintenance	TAS	biological_process
GO:2000648	positive regulation of st em cell proliferation	IMP	biological_process
GO:2000648	positive regulation of st em cell proliferation	IDA	biological_process
GO:2000679	positive regulation of tr anscription regulatory re gion DNA binding	IDA	biological_process
GO:2000685	positive regulation of ce llular response to X-ray	IDA	biological_process
GO:2000774	positive regulation of ce llular senescence	IMP	biological_process
GO:2001022	positive regulation of re sponse to DNA damage stim ulus	IDA	biological_process
GO:2001022	positive regulation of re sponse to DNA damage stim ulus	IDA	biological_process
GO:2001033	negative regulation of do uble-strand break repair via nonhomologous end joi ning	IDA	biological_process
GO:2001038	regulation of cellular re sponse to drug	IDA	biological_process
GO:0000989	transcription factor acti vity, transcription facto r binding	IDA	molecular_function
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000228	nuclear chromosome	ISS	cellular_component
GO:0000975	regulatory region DNA bin ding	IDA	molecular_function
GO:0001047	core promoter binding	IDA	molecular_function
GO:0001077	transcriptional activator activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular_function
GO:0001078	transcriptional repressor activity, RNA polymerase II core promoter proxima l region sequence-specifi c binding	IDA	molecular_function
GO:0001837	epithelial to mesenchymal transition	IMP	biological_process
GO:0002062	chondrocyte differentiati on	IDA	biological_process
GO:0003131	mesodermal-endodermal cel l signaling	IMP	biological_process
GO:0003677	DNA binding	NAS	molecular_function
GO:0003680	AT DNA binding	IDA	molecular_function
GO:0003680	AT DNA binding	IDA	molecular_function
GO:0003680	AT DNA binding	IDA	molecular_function
GO:0003680	AT DNA binding	IMP	molecular_function
GO:0003680	AT DNA binding	IDA	molecular_function
GO:0003680	AT DNA binding	IDA	molecular_function
GO:0003680	AT DNA binding	TAS	molecular_function
GO:0003906	DNA-(apurinic or apyrimid inic site) lyase activity	IDA	molecular_function
GO:0004677	DNA-dependent protein kin ase activity	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0006284	base-excision repair	IDA	biological_process
GO:0006325	chromatin organization	TAS	biological_process
GO:0006325	chromatin organization	TAS	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IMP	biological_process
GO:0007095	mitotic G2 DNA damage che ckpoint	IDA	biological_process
GO:0007275	multicellular organism de velopment	TAS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0008301	DNA binding, bending	IMP	molecular_function
GO:0008301	DNA binding, bending	IDA	molecular_function
GO:0009615	response to virus	IEP	biological_process
GO:0010564	regulation of cell cycle process	IDA	biological_process
GO:0010628	positive regulation of ge ne expression	IDA	biological_process
GO:0031052	chromosome breakage	IDA	biological_process
GO:0031492	nucleosomal DNA binding	IDA	molecular_function
GO:0031507	heterochromatin assembly	IDA	biological_process
GO:0032993	protein-DNA complex	IDA	cellular_component
GO:0035497	cAMP response element bin ding	IDA	molecular_function
GO:0035500	MH2 domain binding	IDA	molecular_function
GO:0035501	MH1 domain binding	IDA	molecular_function
GO:0035978	histone H2A-S139 phosphor ylation	IDA	biological_process
GO:0035985	senescence-associated het erochromatin focus	IDA	cellular_component
GO:0035986	senescence-associated het erochromatin focus assemb ly	IDA	biological_process
GO:0035987	endodermal cell different iation	IMP	biological_process
GO:0035988	chondrocyte proliferation	IDA	biological_process
GO:0042769	DNA damage response, dete ction of DNA damage	IDA	biological_process
GO:0043065	positive regulation of ap optotic process	IDA	biological_process
GO:0043066	negative regulation of ap optotic process	IDA	biological_process
GO:0043392	negative regulation of DN A binding	IDA	biological_process
GO:0043922	negative regulation by ho st of viral transcription	IDA	biological_process
GO:0045444	fat cell differentiation	IMP	biological_process
GO:0045444	fat cell differentiation	IMP	biological_process
GO:0045869	negative regulation of si ngle stranded viral RNA r eplication via double str anded DNA intermediate	IDA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IMP	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0046332	SMAD binding	IPI	molecular_function
GO:0048333	mesodermal cell different iation	IMP	biological_process
GO:0048762	mesenchymal cell differen tiation	IMP	biological_process
GO:0048762	mesenchymal cell differen tiation	IMP	biological_process
GO:0048863	stem cell differentiation	IEP	biological_process
GO:0051575	5'-deoxyribose-5-phosphat e lyase activity	IDA	molecular_function
GO:0070742	C2H2 zinc finger domain b inding	IMP	molecular_function
GO:0071141	SMAD protein complex	IDA	cellular_component
GO:0071158	positive regulation of ce ll cycle arrest	IDA	biological_process
GO:0090402	oncogene-induced cell sen escence	IDA	biological_process
GO:2000036	regulation of stem cell p opulation maintenance	IMP	biological_process
GO:2000036	regulation of stem cell p opulation maintenance	TAS	biological_process
GO:2000648	positive regulation of st em cell proliferation	IMP	biological_process
GO:2000648	positive regulation of st em cell proliferation	IDA	biological_process
GO:2000679	positive regulation of tr anscription regulatory re gion DNA binding	IDA	biological_process
GO:2000685	positive regulation of ce llular response to X-ray	IDA	biological_process
GO:2000774	positive regulation of ce llular senescence	IMP	biological_process
GO:2001022	positive regulation of re sponse to DNA damage stim ulus	IDA	biological_process
GO:2001022	positive regulation of re sponse to DNA damage stim ulus	IDA	biological_process
GO:2001033	negative regulation of do uble-strand break repair via nonhomologous end joi ning	IDA	biological_process
GO:2001038	regulation of cellular re sponse to drug	IDA	biological_process
GO:0000989	transcription factor acti vity, transcription facto r binding	IDA	molecular_function

KEGG pathways

hsa05206 MicroRNAs in cancer
hsa05202 Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Cancer	PMID: 19132395
Cardiovascular disease	PMID: 19584346
Endometriosis	PMID: 20461755
Odontogenesis	PMID: 20195514
Polycystic ovary syndrome (PCOS)	PMID: 24106282
Endometriosis	INFBASE20461755
Uterine leiomyomas	KEGG: H01640

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
20461755	Endometrio sis			33 (16 cases of mass-forming e ndometriosis, 1 1 cases of usua l endometriosis , and six endom etriomas)			Show abstract