TFAP2B
entrez
7021
canonical
uniprot
Q92481
canonical
ensembl
ENSG00000008196
resolver
ensp
ENSP00000377265
resolver
genesymbol
TFAP2B
resolver
hgnc
HGNC:11743
resolver
uniprot
Q5JYX6
resolver
uniprot
Q9NQ63
resolver
uniprot
Q9NU99
resolver
uniprot
Q9UJI7
resolver
uniprot
Q9Y214
resolver
uniprot
Q9Y3K3
resolver
uniprot_entry
AP2B_HUMAN
resolver
uniprot_sec
Q5JYX6
resolver
uniprot_sec
Q9NQ63
resolver
uniprot_sec
Q9NU99
resolver
uniprot_sec
Q9UJI7
resolver
uniprot_sec
Q9Y214
resolver
uniprot_sec
Q9Y3K3
resolver
amino_acid_sequence
MHSPPRDQAAIMLWKLVENVKYEDIYEDRHDGVPSHSSRLSQLGSVSQGPYSSAPPLSHTPSSDFQPPYFPPPYQPLPYHQSQDPYSHVNDPYSLNPLHQPQQHPWGQRQRQEVGSEAGSLLPQPRAALPQLSGLDPRRDYHSVRRPDVLLHSAHHGLDAGMGDSLSLHGLGHPGMEDVQSVEDANNSGMNLLDQSVIKKVPVPPKSVTSLMMNKDGFLGGMSVNTGEVFCSVPGRLSLLSSTSKYKVTVGEVQRRLSPPECLNASLLGGVLRRAKSKNGGRSLRERLEKIGLNLPAGRRKAANVTLLTSLVEGEAVHLARDFGYICETEFPAKAVSEYLNRQHTDPSDLHSRKNMLLATKQLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLITHGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTSGEGPGSKTGDKEEKHRK
uniprot
proteins
disease_involvement
DISEASE: Char syndrome (CHAR) [MIM:169100]: An autosomal dominant disorder characterized by patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies. {ECO:0000269|PubMed:10802654, ECO:0000269|PubMed:11505339, ECO:0000269|PubMed:15684060}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Patent ductus arteriosus 2 (PDA2) [MIM:617035]: 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. {ECO:0000269|PubMed:18752453, ECO:0000269|PubMed:21643846}. 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 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. {ECO:0000269|PubMed:11694877}.
uniprot
proteins
mass_dalton
50474
uniprot
proteins
post_translational_modification
PTM: Sumoylated on Lys-21; which inhibits transcriptional activity. {ECO:0000305|PubMed:12072434}.
uniprot
proteins
protein_family
AP-2 family
uniprot
proteins
pubmed
10802654
uniprot
proteins
pubmed
11505339
uniprot
proteins
pubmed
11694877
uniprot
proteins
pubmed
11744733
uniprot
proteins
pubmed
12072434
uniprot
proteins
pubmed
12586840
uniprot
proteins
pubmed
14574404
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15684060
uniprot
proteins
pubmed
18752453
uniprot
proteins
pubmed
19115315
uniprot
proteins
pubmed
21643846
uniprot
proteins
pubmed
8661133
uniprot
proteins
pubmed
9271117
uniprot
proteins
sequence_length
460
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q61313}. Note=In the brain, localizes to the arcuate hypothalamic nucleus, the ventromedial hypothalamic nucleus and the accumbens nucleus of the ventral striatum. {ECO:0000250|UniProtKB:Q61313}.
uniprot
proteins