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

Gene ID: 7022, updated on 18-Dec-2022

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; AllianceGenome:HGNC:11744
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
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Genomic context

See TFAP2C in Genome Data Viewer
Location:
20q13.31
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (56629306..56639283)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (58406836..58416813)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (55204362..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

EBI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in 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)

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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, Q9P1X2
    Related
    ENSP00000201031.2, ENST00000201031.3

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    58406836..58416813
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)