TFAP2A gene homepage

General information
Gene symbol TFAP2A
Gene name transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
Chromosome 6
Chromosomal band pter-p22.3
Imprinted Unknown
Genomic reference NG_016151.1
Transcript reference NM_003220.2
Exon/intron information NM_003220.2 exon/intron table
Associated with diseases BOFS, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 8
Unique public DNA variants reported 7
Individuals with public variants 10
Hidden variants 0
Date created May 03, 2013
Date last updated May 03, 2016
Version TFAP2A:160503

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_003220.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 11742
Entrez Gene 7020
PubMed articles TFAP2A
OMIM - Gene 107580
OMIM - Diseases BOFS (branchiooculofacial syndrome (BOFS))
GeneCards TFAP2A
GeneTests TFAP2A

Active transcripts




NCBI ID     

NCBI Protein ID     

00021013 6 transcript variant 1 NM_003220.2 NP_003211.1 8

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