• Gene id: 8091

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, HMGA2/KRT121P fusion, 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
• 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: 11832
• Sequence:

  MSARGEGAGQPSTSAQGQPAAPAPQKRGRGRPRKQQQEPTGEPSPKRPRGRPKGSKNKSPSKAAQKKAEATGEKR
  PRGRPRKWPQQVVQKKPAQEETEETSSQESAEED

• Structural information:
  • Interpro: IPR017956  IPR000116  IPR000637  
  • Prosite: PS00354
  • STRING: ENSP00000437621
• Other Databases: GeneCards:  HMGA2  Malacards:  HMGA2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003906	DNA-(apurinic or apyrimidinic site) endonuclease activity	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0006284	base-excision repair	IBA	biological process
GO:0000785	chromatin	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0051301	cell division	IEA	biological process
GO:0030261	chromosome condensation	IEA	biological process
GO:0040008	regulation of growth	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003680	AT DNA binding	TAS	molecular function
GO:0007275	multicellular organism development	TAS	biological process
GO:0006325	chromatin organization	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0071864	positive regulation of cell proliferation in bone marrow	ISS	biological process
GO:0045766	positive regulation of angiogenesis	ISS	biological process
GO:2000773	negative regulation of cellular senescence	ISS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:2001038	regulation of cellular response to drug	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:2001033	negative regulation of double-strand break repair via nonhomologous end joining	IDA	biological process
GO:2001022	positive regulation of response to DNA damage stimulus	IDA	biological process
GO:2000648	positive regulation of stem cell proliferation	IDA	biological process
GO:0071158	positive regulation of cell cycle arrest	IDA	biological process
GO:0071141	SMAD protein complex	IDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0035501	MH1 domain binding	IDA	molecular function
GO:0031052	chromosome breakage	IDA	biological process
GO:0010564	regulation of cell cycle process	IDA	biological process
GO:0008301	DNA binding, bending	IDA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0071902	positive regulation of protein serine/threonine kinase activity	IDA	biological process
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0042769	DNA damage response, detection of DNA damage	IDA	biological process
GO:0035978	histone H2A-S139 phosphorylation	IDA	biological process
GO:0035497	cAMP response element binding	IDA	molecular function
GO:0032993	protein-DNA complex	IDA	cellular component
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0006284	base-excision repair	IDA	biological process
GO:0003680	AT DNA binding	IDA	molecular function
GO:0003680	AT DNA binding	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:2001022	positive regulation of response to DNA damage stimulus	IDA	biological process
GO:2000685	positive regulation of cellular response to X-ray	IDA	biological process
GO:0090402	oncogene-induced cell senescence	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0045869	negative regulation of single stranded viral RNA replication via double stranded DNA intermediate	IDA	biological process
GO:0043392	negative regulation of DNA binding	IDA	biological process
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0035988	chondrocyte proliferation	IDA	biological process
GO:0035500	MH2 domain binding	IDA	molecular function
GO:0031507	heterochromatin assembly	IDA	biological process
GO:0003906	DNA-(apurinic or apyrimidinic site) endonuclease activity	IDA	molecular function
GO:0002062	chondrocyte differentiation	IDA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0051575	5'-deoxyribose-5-phosphate lyase activity	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IDA	biological process
GO:0043922	negative regulation by host of viral transcription	IDA	biological process
GO:0035986	senescence-associated heterochromatin focus assembly	IDA	biological process
GO:0035985	senescence-associated heterochromatin focus	IDA	cellular component
GO:0031492	nucleosomal DNA binding	IDA	molecular function
GO:0007095	mitotic G2 DNA damage checkpoint	IDA	biological process
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:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:2000774	positive regulation of cellular senescence	IMP	biological process
GO:0048762	mesenchymal cell differentiation	IMP	biological process
GO:0045444	fat cell differentiation	IMP	biological process
GO:0005634	nucleus	HDA	cellular component
GO:0046332	SMAD binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003131	mesodermal-endodermal cell signaling	IMP	biological process
GO:0000228	nuclear chromosome	ISS	cellular component
GO:0043392	negative regulation of DNA binding	IMP	biological process
GO:2000648	positive regulation of stem cell proliferation	IMP	biological process
GO:2000036	regulation of stem cell population maintenance	IMP	biological process
GO:2000036	regulation of stem cell population maintenance	TAS	biological process
GO:0048863	stem cell differentiation	IEP	biological process
GO:0048762	mesenchymal cell differentiation	IMP	biological process
GO:0048333	mesodermal cell differentiation	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0045444	fat cell differentiation	IMP	biological process
GO:0035987	endodermal cell differentiation	IMP	biological process
GO:0009615	response to virus	IEP	biological process
GO:0006325	chromatin organization	TAS	biological process
GO:0003680	AT DNA binding	IMP	molecular function
GO:0070742	C2H2 zinc finger domain binding	IMP	molecular function
GO:0046332	SMAD binding	IPI	molecular function
GO:0046332	SMAD binding	IPI	molecular function
GO:0008301	DNA binding, bending	IMP	molecular function
GO:0006355	regulation of transcription, DNA-templated	IMP	biological process
GO:0003677	DNA binding	NAS	molecular function
GO:0001837	epithelial to mesenchymal transition	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05206	MicroRNAs in cancer
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Uterine leiomyoma	KEGG:H01640
Uterine leiomyoma	KEGG:H01640
leiomyoma	PMID:8954805
Ovarian cancer	PMID:18452175
Lipoma	PMID:7606786
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray