InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: HMGA2

Summary

InnateDB Protein

IDBP-45428.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

HMGA2

Protein Name

high mobility group AT-hook 2

Synonyms

BABL; HMGI-C; HMGIC; LIPO; STQTL9;

Species

Homo sapiens

Ensembl Protein

ENSP00000346658

InnateDB Gene

IDBG-45426 (HMGA2)

Protein Structure

UniProt Annotation

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. {ECO:0000269PubMed:14645522}.

Subcellular Localization

Nucleus.

Disease Associations

Note=A chromosomal aberration involving HMGA2 is associated with a subclass of benign mesenchymal tumors known as lipomas. Translocation t(3;12)(q27-q28;q13-q15) with LPP is shown in lipomas. HMGA2 is also fused with a number of other genes in lipomas.Note=A chromosomal aberration involving HMGA2 is associated with pulmonary chondroid hamartomas. Translocation t(3;12)(q27-q28;q14-q15) with LPP is detected in pulmonary chondroid hamartomas.Note=A chromosomal aberration involving HMGA2 is associated with parosteal lipomas. Translocation t(3;12)(q28;q14) with LPP is also shown in one parosteal lipoma.Note=A chromosomal aberration involving HMGA2 is found in uterine leiomyoma. Translocation t(12;14)(q15;q23-24) with RAD51B. Chromosomal rearrangements involving HMGA2 do not seem to be the principle pathobiological mechanism in uterine leiomyoma.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 23 experimentally validated interaction(s) in this database.
They are also associated with 4 interaction(s) predicted by orthology.

Experimentally validated
Total	23 [view]
Protein-Protein	22 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	4 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000975	regulatory region DNA binding
GO:0000988	protein binding transcription factor activity
GO:0001047	core promoter binding
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001078	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription
GO:0003677	DNA binding
GO:0003680	AT DNA binding
GO:0003906	DNA-(apurinic or apyrimidinic site) lyase activity
GO:0004677	DNA-dependent protein kinase activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0008301	DNA binding, bending
GO:0031492	nucleosomal DNA binding
GO:0035497	cAMP response element binding
GO:0035500	MH2 domain binding
GO:0035501	MH1 domain binding
GO:0046332	SMAD binding
GO:0051575	5'-deoxyribose-5-phosphate lyase activity
GO:0070742	C2H2 zinc finger domain binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0000737	DNA catabolic process, endonucleolytic
GO:0001837	epithelial to mesenchymal transition
GO:0002062	chondrocyte differentiation
GO:0003131	mesodermal-endodermal cell signaling
GO:0006284	base-excision repair
GO:0006325	chromatin organization
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0007067	mitotic nuclear division
GO:0007095	mitotic G2 DNA damage checkpoint
GO:0007275	multicellular organismal development
GO:0009615	response to virus
GO:0010564	regulation of cell cycle process
GO:0010628	positive regulation of gene expression
GO:0030261	chromosome condensation
GO:0031052	chromosome breakage
GO:0031507	heterochromatin assembly
GO:0035978	histone H2A-S139 phosphorylation
GO:0035986	senescence-associated heterochromatin focus assembly
GO:0035987	endodermal cell differentiation
GO:0035988	chondrocyte proliferation
GO:0042769	DNA damage response, detection of DNA damage
GO:0043065	positive regulation of apoptotic process
GO:0043066	negative regulation of apoptotic process
GO:0043392	negative regulation of DNA binding
GO:0043922	negative regulation by host of viral transcription
GO:0045444	fat cell differentiation
GO:0045869	negative regulation of single stranded viral RNA replication via double stranded DNA intermediate
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0048333	mesodermal cell differentiation
GO:0048762	mesenchymal cell differentiation
GO:0048863	stem cell differentiation
GO:0071158	positive regulation of cell cycle arrest
GO:0090402	oncogene-induced cell senescence
GO:2000036	regulation of stem cell maintenance
GO:2000648	positive regulation of stem cell proliferation
GO:2000679	positive regulation of transcription regulatory region DNA binding
GO:2000685	positive regulation of cellular response to X-ray
GO:2000774	positive regulation of cellular senescence
GO:2001022	positive regulation of response to DNA damage stimulus
GO:2001033	negative regulation of double-strand break repair via nonhomologous end joining
GO:2001038	regulation of cellular response to drug

Cellular Component

GO:0000228	nuclear chromosome
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0032993	protein-DNA complex
GO:0035985	senescence-associated heterochromatin focus
GO:0071141	SMAD protein complex