InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: TFAP2B

Summary

InnateDB Protein

IDBP-243187.5

Last Modified

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

Gene Symbol

TFAP2B

Protein Name

transcription factor AP-2 beta (activating enhancer binding protein 2 beta)

Synonyms

AP-2B; AP2-B;

Species

Homo sapiens

Ensembl Protein

ENSP00000377265

InnateDB Gene

IDBG-90393 (TFAP2B)

Protein Structure

UniProt Annotation

Function

Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-beta appears to be required for normal face and limb development and for proper terminal differentiation and function of renal tubular epithelia. {ECO:0000269PubMed:11694877}.

Subcellular Localization

Nucleus {ECO:0000305}.

Disease Associations

Char syndrome (CHAR) [MIM:169100]: An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies. {ECO:0000269PubMed:10802654, ECO:0000269PubMed:11505339}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0000983	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity
GO:0001077	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
GO:0001105	RNA polymerase II transcription coactivator activity
GO:0001106	RNA polymerase II transcription corepressor activity
GO:0001158	enhancer sequence-specific DNA binding
GO:0003677	DNA binding
GO:0003682	chromatin binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0003713	transcription coactivator activity
GO:0003714	transcription corepressor activity
GO:0005515	protein binding
GO:0042803	protein homodimerization activity
GO:0043027	cysteine-type endopeptidase inhibitor activity involved in apoptotic process
GO:0043565	sequence-specific DNA binding
GO:0046982	protein heterodimerization activity
GO:0046983	protein dimerization activity

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0001822	kidney development
GO:0003091	renal water homeostasis
GO:0006006	glucose metabolic process
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0007423	sensory organ development
GO:0008284	positive regulation of cell proliferation
GO:0008285	negative regulation of cell proliferation
GO:0010226	response to lithium ion
GO:0010842	retina layer formation
GO:0010960	magnesium ion homeostasis
GO:0030510	regulation of BMP signaling pathway
GO:0035136	forelimb morphogenesis
GO:0035137	hindlimb morphogenesis
GO:0035810	positive regulation of urine volume
GO:0035909	aorta morphogenesis
GO:0042493	response to drug
GO:0042593	glucose homeostasis
GO:0043066	negative regulation of apoptotic process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process
GO:0043524	negative regulation of neuron apoptotic process
GO:0043525	positive regulation of neuron apoptotic process
GO:0043588	skin development
GO:0045444	fat cell differentiation
GO:0045595	regulation of cell differentiation
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:0048485	sympathetic nervous system development
GO:0050796	regulation of insulin secretion
GO:0055062	phosphate ion homeostasis
GO:0055074	calcium ion homeostasis
GO:0055075	potassium ion homeostasis
GO:0055078	sodium ion homeostasis
GO:0072017	distal tubule development
GO:0072044	collecting duct development
GO:0072210	metanephric nephron development
GO:0097070	ductus arteriosus closure
GO:0097275	cellular ammonia homeostasis
GO:0097276	cellular creatinine homeostasis
GO:0097277	cellular urea homeostasis