TFAP2A
entrez
7020
canonical
uniprot
P05549
canonical
ensembl
ENSG00000137203
resolver
ensp
ENSP00000316516
resolver
ensp
ENSP00000368928
resolver
ensp
ENSP00000368933
resolver
ensp
ENSP00000418541
resolver
enst
ENST00000379613
resolver
enst
ENST00000482890
resolver
genesymbol
TFAP2A
resolver
genesymbol_syn
AP2TF
resolver
genesymbol_syn
TFAP2
resolver
hgnc
HGNC:11742
resolver
uniprot
A0A6E1XE14
resolver
uniprot
Q13777
resolver
uniprot
Q5TAV5
resolver
uniprot
Q8N1C6
resolver
uniprot_entry
A0A6E1XE14_HUMAN
resolver
uniprot_entry
AP2A_HUMAN
resolver
uniprot_sec
Q13777
resolver
uniprot_sec
Q5TAV5
resolver
uniprot_sec
Q8N1C6
resolver
amino_acid_sequence
MLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPPPYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSGLDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPVSLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYVCETEFPAKAVAEFLNRQHSDPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLGNSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTEALKAMDKMYLSNNPNSHTDNNAKSSDKEEKHRK
uniprot
proteins
disease_involvement
DISEASE: Branchiooculofacial syndrome (BOFS) [MIM:113620]: A syndrome characterized by growth retardation, bilateral branchial sinus defects with hemangiomatous, scarred skin, cleft lip with or without cleft palate, pseudocleft of the upper lip, nasolacrimal duct obstruction, low set ears with posterior rotation, a malformed, asymmetrical nose with a broad bridge and flattened tip, conductive or sensorineural deafness, ocular and renal anomalies. {ECO:0000269|PubMed:18423521}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
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 can also suppress a number of genes including MCAM/MUC18 and C/EBP alpha. Is involved in the negative regulation of Wnt canonical signaling, and is a transcriptional repressor of MYC (PubMed:33000225). AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITED2 coactivator, stimulates the PITX2 P1 promoter transcription activation. Associates with chromatin to the PITX2 P1 promoter region. {ECO:0000269|PubMed:11694877, ECO:0000269|PubMed:12586840, ECO:0000269|PubMed:33000225}.
uniprot
proteins
mass_dalton
48062
uniprot
proteins
mutagenesis
MUTAGEN 60; /note="P->A: Results in decreased down-regulation of Wnt signaling. Results in decreased transcriptional repression of MYC signaling."; /evidence="ECO:0000269|PubMed:33000225"; MUTAGEN 61; /note="P->R: Results in decreased down-regulation of Wnt signaling. Results in decreased transcriptional repression of MYC signaling."; /evidence="ECO:0000269|PubMed:33000225"; MUTAGEN 239; /note="S->A: No phosphorylation."; /evidence="ECO:0000269|PubMed:10037142
uniprot
proteins
post_translational_modification
PTM: Sumoylated on Lys-10; which inhibits transcriptional activity. {ECO:0000305|PubMed:12072434}.
uniprot
proteins
protein_family
AP-2 family
uniprot
proteins
pubmed
10037142
uniprot
proteins
pubmed
11694877
uniprot
proteins
pubmed
11744733
uniprot
proteins
pubmed
12072434
uniprot
proteins
pubmed
12586840
uniprot
proteins
pubmed
12775724
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15548692
uniprot
proteins
pubmed
18423521
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
19115315
uniprot
proteins
pubmed
1998122
uniprot
proteins
pubmed
2010091
uniprot
proteins
pubmed
23186163
uniprot
proteins
pubmed
23382213
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
3063603
uniprot
proteins
pubmed
33000225
uniprot
proteins
pubmed
8190633
uniprot
proteins
pubmed
8321221
uniprot
proteins
sequence_length
437
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:12586840, ECO:0000269|PubMed:33000225}.
uniprot
proteins