HMGA2: Polycystic Ovarian Syndrome Database

Gene Information

Gene Symbol

HMGA2

Aliases

BABL, HMGI-C, HMGIC, LIPO, STQTL9

Entrez Gene ID

8091

Gene Name

High mobility group AT-hook 2

Chromosomal Location

12q14.3

HGNC ID

HGNC:5009

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]

RefSeq DNA

NG_016296.1

RefSeq mRNA

NM_003483.4, NM_003484.1, NM_001300918.1, NM_001300919.1, NM_001330190.1

e!Ensembl

Gene	ENSG00000149948
Transcript	ENST00000403681, ENST00000537275, ENST00000393578, ENST00000537429, ENST00000425208, ENST00000536545, ENST00000354636, ENST00000541363, ENST00000393577, ENST00000539662
Protein	ENSP00000384026, ENSP00000437747, ENSP00000377206, ENSP00000443372, ENSP00000407306, ENSP00000437621, ENSP00000346658, ENSP00000439317, ENSP00000377205, ENSP00000440919

SNPs

SNP Id	Upstream Sequence	SNP	Downstream Sequence	Functional Significance	References
rs2272046					22885925

Gene Ontology (GO)

Show/Hide all(76 )

GO ID	Ontology	Function	Evidence	Reference
GO:0000122	Biological process	Negative regulation of transcription by RNA polymerase II	IDA	14627817
GO:0001837	Biological process	Epithelial to mesenchymal transition	IMP	18832382
GO:0002062	Biological process	Chondrocyte differentiation	IDA	21484705
GO:0003131	Biological process	Mesodermal-endodermal cell signaling	IMP	17624332
GO:0006284	Biological process	Base-excision repair	IBA	21873635
GO:0006284	Biological process	Base-excision repair	IDA	19465398
GO:0006325	Biological process	Chromatin organization	TAS	19551524
GO:0006355	Biological process	Regulation of transcription, DNA-templated	IBA	21873635
GO:0006355	Biological process	Regulation of transcription, DNA-templated	IMP	7606786
GO:0007095	Biological process	Mitotic G2 DNA damage checkpoint	IDA	16061642
GO:0007275	Biological process	Multicellular organism development	TAS	7606786
GO:0009615	Biological process	Response to virus	IEP	17005673
GO:0010564	Biological process	Regulation of cell cycle process	IDA	14645522
GO:0010628	Biological process	Positive regulation of gene expression	IDA	18832382
GO:0031052	Biological process	Chromosome breakage	IDA	19549901
GO:0031507	Biological process	Heterochromatin assembly	IDA	16901784
GO:0035978	Biological process	Histone H2A-S139 phosphorylation	IDA	16061642
GO:0035986	Biological process	Senescence-associated heterochromatin focus assembly	IDA	16901784
GO:0035987	Biological process	Endodermal cell differentiation	IMP	17624332
GO:0035988	Biological process	Chondrocyte proliferation	IDA	21484705
GO:0042769	Biological process	DNA damage response, detection of DNA damage	IDA	19465398
GO:0043065	Biological process	Positive regulation of apoptotic process	IDA	16061642
GO:0043066	Biological process	Negative regulation of apoptotic process	IDA	19465398
GO:0043392	Biological process	Negative regulation of DNA binding	IDA	14645522
GO:0043392	Biological process	Negative regulation of DNA binding	IMP	19549901
GO:0043922	Biological process	Negative regulation by host of viral transcription	IDA	17005673
GO:0045444	Biological process	Fat cell differentiation	IMP	7606786, 17624332
GO:0045869	Biological process	Negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	IDA	17005673
GO:0045892	Biological process	Negative regulation of transcription, DNA-templated	IDA	18832382
GO:0045892	Biological process	Negative regulation of transcription, DNA-templated	IMP	16901784
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IDA	15225648, 15755872, 17005673, 17324944, 17426251
GO:0045893	Biological process	Positive regulation of transcription, DNA-templated	IMP	17624332
GO:0045944	Biological process	Positive regulation of transcription by RNA polymerase II	IDA	14645522, 18832382
GO:0048333	Biological process	Mesodermal cell differentiation	IMP	17624332
GO:0048762	Biological process	Mesenchymal cell differentiation	IMP	7606786, 17624332
GO:0048863	Biological process	Stem cell differentiation	IEP	17078040
GO:0071158	Biological process	Positive regulation of cell cycle arrest	IDA	16061642
GO:0071902	Biological process	Positive regulation of protein serine/threonine kinase activity	IDA	19549901
GO:0090402	Biological process	Oncogene-induced cell senescence	IDA	16901784
GO:2000036	Biological process	Regulation of stem cell population maintenance	IMP	17624332
GO:2000036	Biological process	Regulation of stem cell population maintenance	TAS	19551524
GO:2000648	Biological process	Positive regulation of stem cell proliferation	IDA	21484705
GO:2000648	Biological process	Positive regulation of stem cell proliferation	IMP	17624332
GO:2000679	Biological process	Positive regulation of transcription regulatory region DNA binding	IDA	18832382
GO:2000685	Biological process	Positive regulation of cellular response to X-ray	IDA	16061642
GO:2000774	Biological process	Positive regulation of cellular senescence	IMP	16901784
GO:2001022	Biological process	Positive regulation of response to DNA damage stimulus	IDA	16061642, 19465398
GO:2001033	Biological process	Negative regulation of double-strand break repair via nonhomologous end joining	IDA	19549901
GO:2001038	Biological process	Regulation of cellular response to drug	IDA	16061642
GO:0005634	Cellular component	Nucleus	HDA	16791210
GO:0005634	Cellular component	Nucleus	IBA	21873635
GO:0005634	Cellular component	Nucleus	IDA	16901784, 17078040, 17324944
GO:0032993	Cellular component	Protein-DNA complex	IDA	19465398
GO:0035985	Cellular component	Senescence-associated heterochromatin focus	IDA	16901784
GO:0071141	Cellular component	SMAD protein complex	IDA	18832382
GO:0000978	Molecular function	RNA polymerase II proximal promoter sequence-specific DNA binding	IDA	14627817
GO:0001227	Molecular function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	14627817
GO:0001228	Molecular function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	18832382
GO:0003677	Molecular function	DNA binding	NAS	8198613
GO:0003680	Molecular function	AT DNA binding	IDA	14627817, 17078040, 17426251, 20108983, 21533145
GO:0003680	Molecular function	AT DNA binding	IMP	18832382
GO:0003712	Molecular function	Transcription coregulator activity	IDA	18832382
GO:0003906	Molecular function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IBA	21873635
GO:0003906	Molecular function	DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	19465398
GO:0005515	Molecular function	Protein binding	IPI	16293633, 17324944, 19465398
GO:0008134	Molecular function	Transcription factor binding	IPI	14645522
GO:0008301	Molecular function	DNA binding, bending	IDA	20108983
GO:0008301	Molecular function	DNA binding, bending	IMP	14627817
GO:0031492	Molecular function	Nucleosomal DNA binding	IDA	17078040
GO:0035497	Molecular function	CAMP response element binding	IDA	14645522
GO:0035500	Molecular function	MH2 domain binding	IDA	18832382
GO:0035501	Molecular function	MH1 domain binding	IDA	18832382
GO:0044212	Molecular function	Transcription regulatory region DNA binding	IDA	17426251
GO:0046332	Molecular function	SMAD binding	IPI	18832382
GO:0051575	Molecular function	5'-deoxyribose-5-phosphate lyase activity	IDA	19465398
GO:0070742	Molecular function	C2H2 zinc finger domain binding	IMP	14645522

Protein Information

Protein Name

High mobility group protein HMGI-C, HMGA2/KRT121P fusion, high-mobility group (nonhistone chromosomal) protein isoform I-C

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. Plays a role in postnatal myogenesis, is involved in satellite cell activation (By similarity).

Refseq Proteins

NP_003474.1, NP_003475.1, NP_001287847.1, NP_001287848.1, NP_001317119.1

UniProt

P52926

Pfam

Pfam Accession	Pfam ID
PF02178	AT_hook

HMGA2

Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.