Entity Details

Primary name AP2B_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ92481
EntryNameAP2B_HUMAN
FullNameTranscription factor AP-2-beta
TaxID9606
Evidenceevidence at protein level
Length460
SequenceStatuscomplete
DateCreated2001-01-24
DateModified2021-06-02

Ontological Relatives

GenesTFAP2B

GO terms

Show/Hide Table
GOName
GO:0000122 negative regulation of transcription by RNA polymerase II
GO:0000785 chromatin
GO:0000977 RNA polymerase II transcription regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II cis-regulatory region sequence-specific DNA binding
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific
GO:0000987 cis-regulatory region sequence-specific DNA binding
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific
GO:0001822 kidney development
GO:0003091 renal water homeostasis
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 DNA-binding transcription factor activity
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0006006 glucose metabolic process
GO:0006357 regulation of transcription by RNA polymerase II
GO:0008284 positive regulation of cell population proliferation
GO:0008285 negative regulation of cell population proliferation
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:0042127 regulation of cell population proliferation
GO:0042493 response to drug
GO:0042593 glucose homeostasis
GO:0042803 protein homodimerization activity
GO:0043066 negative regulation of apoptotic process
GO:0043524 negative regulation of neuron apoptotic process
GO:0043525 positive regulation of neuron apoptotic process
GO:0043565 sequence-specific DNA binding
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 by RNA polymerase II
GO:0046982 protein heterodimerization activity
GO:0048485 sympathetic nervous system development
GO:0048856 anatomical structure 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 ammonium homeostasis
GO:0097276 cellular creatinine homeostasis
GO:0097277 cellular urea homeostasis
GO:1990837 sequence-specific double-stranded DNA binding

Subcellular Location

Show/Hide Table
Subcellular Location
Nucleus

Domains

Show/Hide Table
DomainNameCategoryType
IPR004979 Transcription factor AP-2FamilyFamily
IPR008122 Transcription factor AP-2 betaFamilyFamily
IPR013854 Transcription factor AP-2, C-terminalDomainDomain

Diseases

Show/Hide Table
Disease IDSourceNameDescription
169100 OMIMChar syndrome (CHAR)An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies. The disease is caused by variants affecting the gene represented in this entry.
617035 OMIMPatent ductus arteriosus 2 (PDA2)A congenital heart defect characterized by the persistent opening of fetal ductus arteriosus that fails to close after birth. Fetal ductus arteriosus connects the pulmonary artery to the descending aorta, allowing unoxygenated blood to bypass the lung and flow to the placenta. Normally, the ductus occludes shortly after birth. The disease is caused by variants affecting the gene represented in this entry.