TFAP2B

Protein identityUniProt · HPA

UniProt accession

Q92481

Gene

TFAP2B

Ensembl

ENSG00000008196

Chromosome

6

Canonical length

460 aa

Protein class

Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

Quaternary structure

Homodimer

OverviewNCBI Gene

This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

460 residues, UniProt reviewed canonical sequence.

>Q92481|TFAP2B
     1  MHSPPRDQAA IMLWKLVENV KYEDIYEDRH DGVPSHSSRL SQLGSVSQGP YSSAPPLSHT
    61  PSSDFQPPYF PPPYQPLPYH QSQDPYSHVN DPYSLNPLHQ PQQHPWGQRQ RQEVGSEAGS
   121  LLPQPRAALP QLSGLDPRRD YHSVRRPDVL LHSAHHGLDA GMGDSLSLHG LGHPGMEDVQ
   181  SVEDANNSGM NLLDQSVIKK VPVPPKSVTS LMMNKDGFLG GMSVNTGEVF CSVPGRLSLL
   241  SSTSKYKVTV GEVQRRLSPP ECLNASLLGG VLRRAKSKNG GRSLRERLEK IGLNLPAGRR
   301  KAANVTLLTS LVEGEAVHLA RDFGYICETE FPAKAVSEYL NRQHTDPSDL HSRKNMLLAT
   361  KQLCKEFTDL LAQDRTPIGN SRPSPILEPG IQSCLTHFSL ITHGFGAPAI CAALTALQNY
   421  LTEALKGMDK MFLNNTTTNR HTSGEGPGSK TGDKEEKHRK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TFAP2B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.54

Highest tissue expression

31 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TFAP2B.

Disease | AllUniProt

Conditions TFAP2B is implicated in, by any mechanism.

• Char syndrome (CHAR) MIM:169100
• Patent ductus arteriosus 2 (PDA2) MIM:617035

Disease | GeneticClinVar

27 pathogenic / likely-pathogenic of 189 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Char syndrome
• Patent ductus arteriosus 2
• Craniosynostosis syndrome
• Inborn genetic diseases
• Chronic intestinal pseudoobstruction

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.26

gnomAD pLI

0.99

gnomAD missense Z

1.29

DepMap mean gene effect

-0.03

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• aorta morphogenesis
• collecting duct development
• distal tubule development
• ductus arteriosus closure
• fat cell differentiation
• forelimb morphogenesis
• glucose metabolic process
• hindlimb morphogenesis
• kidney development
• metanephric nephron development
• negative regulation of apoptotic process
• negative regulation of cell population proliferation
• negative regulation of DNA-templated transcription
• negative regulation of neuron apoptotic process
• negative regulation of transcription by RNA polymerase II
• nervous system development
• neuron apoptotic process
• positive regulation of cell population proliferation
• positive regulation of DNA-templated transcription
• positive regulation of neuron apoptotic process
• positive regulation of transcription by RNA polymerase II
• regulation of BMP signaling pathway
• regulation of cell differentiation
• regulation of cell population proliferation
• regulation of insulin secretion
• response to xenobiotic stimulus
• retina layer formation
• skin development
• smooth muscle tissue development
• sympathetic nervous system development
• transcription by RNA polymerase II

Molecular functions

• chromatin binding
• cis-regulatory region sequence-specific DNA binding
• DNA binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity
• DNA-binding transcription factor activity, RNA polymerase II-specific
• protein heterodimerization activity
• protein homodimerization activity
• RNA polymerase II cis-regulatory region sequence-specific DNA binding
• RNA polymerase II transcription regulatory region sequence-specific DNA binding
• sequence-specific DNA binding
• sequence-specific double-stranded DNA binding

Cellular components

• chromatin
• nucleoplasm
• nucleus

Protein domainsUniProt · Pfam · InterPro

• Transcription factor AP-2
• Transcription factor AP-2, C-terminal
• Transcription factor AP-2
• Transcription factor AP-2 beta

KeywordsUniProt

• Activator
• DNA-binding
• Isopeptide bond
• Nucleus
• Phosphoprotein
• Transcription
• Transcription regulation
• Ubl conjugation

InteractionsUniProt · HPA

Protein binding partners of TFAP2B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CITED2
• CITED4
• KCTD1
• UBE2I
• NUMB