UniProtKB - Q92481 (AP2B_HUMAN)
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Protein
Transcription factor AP-2-beta
Gene
TFAP2B
Organism
Homo sapiens (Human)
Status
Functioni
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.1 Publication
GO - Molecular functioni
- chromatin binding Source: Ensembl
- cysteine-type endopeptidase inhibitor activity involved in apoptotic process Source: UniProtKB
- DNA binding Source: UniProtKB
- DNA binding transcription factor activity Source: UniProtKB
- enhancer sequence-specific DNA binding Source: UniProtKB
- protein dimerization activity Source: UniProtKB
- protein heterodimerization activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
- RNA polymerase II core promoter sequence-specific DNA binding Source: UniProtKB
- RNA polymerase II transcription coactivator activity Source: UniProtKB
- RNA polymerase II transcription corepressor activity Source: UniProtKB
- RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: UniProtKB
- sequence-specific DNA binding Source: UniProtKB
- transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: Ensembl
- transcription coactivator activity Source: UniProtKB
- transcription corepressor activity Source: UniProtKB
- transcription factor activity, RNA polymerase II core promoter sequence-specific DNA binding Source: UniProtKB
GO - Biological processi
- aorta morphogenesis Source: UniProtKB
- calcium ion homeostasis Source: UniProtKB
- cellular ammonia homeostasis Source: UniProtKB
- cellular creatinine homeostasis Source: UniProtKB
- cellular urea homeostasis Source: UniProtKB
- collecting duct development Source: UniProtKB
- distal tubule development Source: UniProtKB
- ductus arteriosus closure Source: UniProtKB
- fat cell differentiation Source: UniProtKB
- forelimb morphogenesis Source: UniProtKB
- glucose homeostasis Source: UniProtKB
- glucose metabolic process Source: UniProtKB
- hindlimb morphogenesis Source: UniProtKB
- kidney development Source: UniProtKB
- magnesium ion homeostasis Source: UniProtKB
- metanephric nephron development Source: Ensembl
- negative regulation of apoptotic process Source: UniProtKB
- negative regulation of cell proliferation Source: UniProtKB
- negative regulation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
- negative regulation of neuron apoptotic process Source: Ensembl
- negative regulation of transcription, DNA-templated Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- phosphate ion homeostasis Source: UniProtKB
- positive regulation of cell proliferation Source: UniProtKB
- positive regulation of neuron apoptotic process Source: UniProtKB
- positive regulation of transcription, DNA-templated Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- positive regulation of urine volume Source: UniProtKB
- potassium ion homeostasis Source: UniProtKB
- regulation of BMP signaling pathway Source: UniProtKB
- regulation of cell differentiation Source: UniProtKB
- regulation of insulin secretion Source: UniProtKB
- regulation of transcription, DNA-templated Source: HGNC
- renal water homeostasis Source: UniProtKB
- response to drug Source: Ensembl
- response to lithium ion Source: Ensembl
- retina layer formation Source: UniProtKB
- skin development Source: Ensembl
- sodium ion homeostasis Source: UniProtKB
- sympathetic nervous system development Source: UniProtKB
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
Reactomei | R-HSA-3232118. SUMOylation of transcription factors. R-HSA-8866904. Negative regulation of activity of TFAP2 (AP-2) family transcription factors. R-HSA-8866907. Activation of the TFAP2 (AP-2) family of transcription factors. R-HSA-8866910. TFAP2 (AP-2) family regulates transcription of growth factors and their receptors. |
SIGNORi | Q92481. |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor AP-2-betaShort name: AP2-beta Alternative name(s): Activating enhancer-binding protein 2-beta |
Gene namesi | Name:TFAP2B |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
EuPathDBi | HostDB:ENSG00000008196.12. |
HGNCi | HGNC:11743. TFAP2B. |
MIMi | 601601. gene. |
neXtProti | NX_Q92481. |
Pathology & Biotechi
Involvement in diseasei
Char syndrome (CHAR)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.
See also OMIM:169100Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_016977 | 73 | P → R in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338910Ensembl. | 1 | |
Natural variantiVAR_016978 | 236 | R → C in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338912Ensembl. | 1 | |
Natural variantiVAR_016979 | 236 | R → S in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338912Ensembl. | 1 | |
Natural variantiVAR_011318 | 275 | A → D in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338914Ensembl. | 1 | |
Natural variantiVAR_016980 | 285 | R → Q in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338915Ensembl. | 1 | |
Natural variantiVAR_011319 | 300 | R → C in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338917Ensembl. | 1 |
Patent ductus arteriosus 2 (PDA2)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:617035Keywords - Diseasei
Disease mutationOrganism-specific databases
DisGeNETi | 7021. |
GeneReviewsi | TFAP2B. |
MalaCardsi | TFAP2B. |
MIMi | 169100. phenotype. 617035. phenotype. |
OpenTargetsi | ENSG00000008196. |
Orphaneti | 46627. Char syndrome. |
PharmGKBi | PA36460. |
Polymorphism and mutation databases
BioMutai | TFAP2B. |
DMDMi | 152031557. |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000184801 | 1 – 460 | Transcription factor AP-2-betaAdd BLAST | 460 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Cross-linki | 21 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)Curated | ||
Modified residuei | 258 | Phosphoserine; by PKABy similarity | 1 |
Post-translational modificationi
Sumoylated on Lys-21; which inhibits transcriptional activity.1 Publication
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
EPDi | Q92481. |
MaxQBi | Q92481. |
PaxDbi | Q92481. |
PeptideAtlasi | Q92481. |
PRIDEi | Q92481. |
PTM databases
iPTMneti | Q92481. |
PhosphoSitePlusi | Q92481. |
Expressioni
Gene expression databases
Bgeei | ENSG00000008196. |
CleanExi | HS_TFAP2B. |
ExpressionAtlasi | Q92481. baseline and differential. |
Genevisiblei | Q92481. HS. |
Organism-specific databases
HPAi | HPA034683. HPA062942. |
Interactioni
Subunit structurei
Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members. Interacts with CITED4. Interacts with UBE2I. Interacts with KCTD1; this interaction represses transcription activation. Interacts with CITED2 (via C-terminus); the interaction stimulates TFAP2B-transcriptional activity.5 Publications
GO - Molecular functioni
- protein dimerization activity Source: UniProtKB
- protein heterodimerization activity Source: UniProtKB
- protein homodimerization activity Source: UniProtKB
Protein-protein interaction databases
BioGridi | 112879. 13 interactors. |
IntActi | Q92481. 4 interactors. |
STRINGi | 9606.ENSP00000377265. |
Family & Domainsi
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 41 – 131 | Gln/Pro-rich (transactivation domain)Add BLAST | 91 |
Sequence similaritiesi
Belongs to the AP-2 family.Curated
Phylogenomic databases
eggNOGi | KOG3811. Eukaryota. ENOG410XR9E. LUCA. |
GeneTreei | ENSGT00550000074577. |
HOVERGENi | HBG002455. |
InParanoidi | Q92481. |
KOi | K09176. |
OMAi | IGHPGME. |
OrthoDBi | EOG091G0PR6. |
PhylomeDBi | Q92481. |
TreeFami | TF313718. |
Family and domain databases
InterProi | View protein in InterPro IPR004979. TF_AP2. IPR008122. TF_AP2_beta. IPR013854. TF_AP2_C. |
PANTHERi | PTHR10812. PTHR10812. 1 hit. PTHR10812:SF14. PTHR10812:SF14. 1 hit. |
Pfami | View protein in Pfam PF03299. TF_AP-2. 1 hit. |
PRINTSi | PR01750. AP2BTNSCPFCT. PR01748. AP2TNSCPFCT. |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q92481-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
10 20 30 40 50
MHSPPRDQAA IMLWKLVENV KYEDIYEDRH DGVPSHSSRL SQLGSVSQGP
60 70 80 90 100
YSSAPPLSHT PSSDFQPPYF PPPYQPLPYH QSQDPYSHVN DPYSLNPLHQ
110 120 130 140 150
PQQHPWGQRQ RQEVGSEAGS LLPQPRAALP QLSGLDPRRD YHSVRRPDVL
160 170 180 190 200
LHSAHHGLDA GMGDSLSLHG LGHPGMEDVQ SVEDANNSGM NLLDQSVIKK
210 220 230 240 250
VPVPPKSVTS LMMNKDGFLG GMSVNTGEVF CSVPGRLSLL SSTSKYKVTV
260 270 280 290 300
GEVQRRLSPP ECLNASLLGG VLRRAKSKNG GRSLRERLEK IGLNLPAGRR
310 320 330 340 350
KAANVTLLTS LVEGEAVHLA RDFGYICETE FPAKAVSEYL NRQHTDPSDL
360 370 380 390 400
HSRKNMLLAT KQLCKEFTDL LAQDRTPIGN SRPSPILEPG IQSCLTHFSL
410 420 430 440 450
ITHGFGAPAI CAALTALQNY LTEALKGMDK MFLNNTTTNR HTSGEGPGSK
460
TGDKEEKHRK
Sequence cautioni
The sequence CAA64990 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAA71047 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAB41305 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAC01130 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 258 | S → A in CAA71047 (PubMed:9271117).Curated | 1 | |
Sequence conflicti | 362 – 460 | QLCKE…EKHRK → GNFVKNLRIYWRRTGHR in CAA71047 (PubMed:9271117).CuratedAdd BLAST | 99 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_016977 | 73 | P → R in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338910Ensembl. | 1 | |
Natural variantiVAR_016978 | 236 | R → C in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338912Ensembl. | 1 | |
Natural variantiVAR_016979 | 236 | R → S in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338912Ensembl. | 1 | |
Natural variantiVAR_011318 | 275 | A → D in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338914Ensembl. | 1 | |
Natural variantiVAR_016980 | 285 | R → Q in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338915Ensembl. | 1 | |
Natural variantiVAR_011319 | 300 | R → C in CHAR. 1 PublicationCorresponds to variant dbSNP:rs80338917Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_006408 | 27 | E → EMLVHTYSSM in isoform 2. Curated | 1 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y09912 Genomic DNA. Translation: CAA71047.1. Different initiation. AL031224 Genomic DNA. Translation: CAB41305.1. Different initiation. AL031224, AL049693 Genomic DNA. Translation: CAI20235.2. AL049693 Genomic DNA. Translation: CAB89563.3. BC037225 mRNA. Translation: AAH37225.2. AJ278356 Genomic DNA. Translation: CAC01130.1. Different initiation. X95694 mRNA. Translation: CAA64990.1. Different initiation. |
CCDSi | CCDS4934.2. [Q92481-1] |
RefSeqi | NP_003212.2. NM_003221.3. [Q92481-1] XP_011513139.1. XM_011514837.2. [Q92481-2] |
UniGenei | Hs.33102. |
Genome annotation databases
Ensembli | ENST00000393655; ENSP00000377265; ENSG00000008196. [Q92481-1] |
GeneIDi | 7021. |
KEGGi | hsa:7021. |
UCSCi | uc003pag.4. human. [Q92481-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Entry informationi
Entry namei | AP2B_HUMAN | |
Accessioni | Q92481Primary (citable) accession number: Q92481 Secondary accession number(s): Q5JYX6 Q9Y3K3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | January 24, 2001 |
Last sequence update: | July 10, 2007 | |
Last modified: | March 28, 2018 | |
This is version 166 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |