TFAP2A

Protein identityUniProt · HPA

UniProt accession

P05549

Gene

TFAP2A

Ensembl

ENSG00000137203

Chromosome

6

Canonical length

437 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors

Subcellular location

Nucleoplasm

Quaternary structure

Homodimer

OverviewNCBI Gene

The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]

Canonical amino-acid sequenceUniProt

437 residues, UniProt reviewed canonical sequence.

>P05549|TFAP2A
     1  MLWKLTDNIK YEDCEDRHDG TSNGTARLPQ LGTVGQSPYT SAPPLSHTPN ADFQPPYFPP
    61  PYQPIYPQSQ DPYSHVNDPY SLNPLHAQPQ PQHPGWPGQR QSQESGLLHT HRGLPHQLSG
   121  LDPRRDYRRH EDLLHGPHAL SSGLGDLSIH SLPHAIEEVP HVEDPGINIP DQTVIKKGPV
   181  SLSKSNSNAV SAIPINKDNL FGGVVNPNEV FCSVPGRLSL LSSTSKYKVT VAEVQRRLSP
   241  PECLNASLLG GVLRRAKSKN GGRSLREKLD KIGLNLPAGR RKAANVTLLT SLVEGEAVHL
   301  ARDFGYVCET EFPAKAVAEF LNRQHSDPNE QVTRKNMLLA TKQICKEFTD LLAQDRSPLG
   361  NSRPNPILEP GIQSCLTHFN LISHGFGSPA VCAAVTALQN YLTEALKAMD KMYLSNNPNS
   421  HTDNNAKSSD KEEKHRK

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TFAP2A 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)

0.53

Highest tissue expression

63 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TFAP2A.

Disease | AllUniProt

Conditions TFAP2A is implicated in, by any mechanism.

• Branchiooculofacial syndrome (BOFS) MIM:113620

Disease | GeneticClinVar

52 pathogenic / likely-pathogenic of 318 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Branchiooculofacial syndrome
• Inborn genetic diseases
• TFAP2A-related disorder
• Chromatinopathy
• 13 conditions

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

2.59

DepMap mean gene effect

-0.07

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• bone morphogenesis
• cellular response to iron ion
• embryonic cranial skeleton morphogenesis
• embryonic forelimb morphogenesis
• eyelid development in camera-type eye
• inner ear morphogenesis
• kidney development
• negative regulation of apoptotic process
• negative regulation of cell population proliferation
• negative regulation of DNA-templated transcription
• negative regulation of reactive oxygen species metabolic process
• negative regulation of transcription by competitive promoter binding
• negative regulation of transcription by RNA polymerase II
• nervous system development
• oculomotor nerve formation
• optic vesicle morphogenesis
• positive regulation of bone mineralization
• positive regulation of DNA-templated transcription
• positive regulation of gene expression
• positive regulation of neuron apoptotic process
• positive regulation of tooth mineralization
• positive regulation of transcription by RNA polymerase II
• regulation of cell differentiation
• regulation of cell population proliferation
• retina layer formation
• roof of mouth development
• sensory perception of sound
• skeletal system development
• trigeminal nerve development
• optic cup structural organization

Molecular functions

• chromatin binding
• DNA binding
• DNA-binding transcription activator activity, RNA polymerase II-specific
• DNA-binding transcription factor activity, RNA polymerase II-specific
• DNA-binding transcription repressor activity, RNA polymerase II-specific
• identical protein binding
• 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
• transcription cis-regulatory region 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 alpha, N-terminal

KeywordsUniProt

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

InteractionsUniProt · HPA

Protein binding partners of TFAP2A in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CITED4
• KCTD1
• KCTD15
• RALBP1
• UBE2I
• WWOX
• NUMB
• EP300
• EWSR1
• NPM1