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TFAP2C transcription factor AP-2 gamma [ Homo sapiens (human) ]

Gene ID: 7022, updated on 26-Apr-2020

Summary

Official Symbol
TFAP2Cprovided by HGNC
Official Full Name
transcription factor AP-2 gammaprovided by HGNC
Primary source
HGNC:HGNC:11744
See related
Ensembl:ENSG00000087510 MIM:601602
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ERF1; TFAP2G; hAP-2g; AP2-GAMMA
Summary
The protein encoded by this gene is a sequence-specific DNA-binding transcription factor involved in the activation of several developmental genes. The encoded protein can act as either a homodimer or heterodimer with other family members and is induced during retinoic acid-mediated differentiation. It plays a role in the development of the eyes, face, body wall, limbs, and neural tube. [provided by RefSeq, Jul 2008]
Expression
Biased expression in skin (RPKM 24.1), placenta (RPKM 10.9) and 6 other tissues See more
Orthologs

Genomic context

See TFAP2C in Genome Data Viewer
Location:
20q13.31
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (56629306..56639283)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (55204358..55214339)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 1716 Neighboring gene ribosomal protein S4X pseudogene 3 Neighboring gene RNA, U6 small nuclear 1146, pseudogene Neighboring gene RNA, 7SL, cytoplasmic 170, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
male gonad development IEP
Inferred from Expression Pattern
more info
PubMed 
negative regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of gene expression, epigenetic IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
transcription factor AP-2 gamma
Names
activating enhancer-binding protein 2 gamma
estrogen receptor factor 1
transcription factor ERF-1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_003222.4NP_003213.1  transcription factor AP-2 gamma

    See identical proteins and their annotated locations for NP_003213.1

    Status: REVIEWED

    Source sequence(s)
    BC035664, BC051829
    Consensus CDS
    CCDS13454.1
    UniProtKB/Swiss-Prot
    Q92754
    Related
    ENSP00000201031.2, ENST00000201031.3
    Conserved Domains (1) summary
    pfam03299
    Location:222423
    TF_AP-2; Transcription factor AP-2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    56629306..56639283
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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