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TFAP2B transcription factor AP-2 beta [ Homo sapiens (human) ]

Gene ID: 7021, updated on 25-Nov-2021

Summary

Official Symbol
TFAP2Bprovided by HGNC
Official Full Name
transcription factor AP-2 betaprovided by HGNC
Primary source
HGNC:HGNC:11743
See related
Ensembl:ENSG00000008196 MIM:601601
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
PDA2; AP-2B; AP2-B; AP-2beta
Summary
This gene encodes a member of the AP-2 family of transcription factors. AP-2 proteins form homo- or hetero-dimers with other AP-2 family members and bind specific DNA sequences. They are thought to stimulate cell proliferation and suppress terminal differentiation of specific cell types during embryonic development. Specific AP-2 family members differ in their expression patterns and binding affinity for different promoters. This protein functions as both a transcriptional activator and repressor. Mutations in this gene result in autosomal dominant Char syndrome, suggesting that this gene functions in the differentiation of neural crest cell derivatives. [provided by RefSeq, Jul 2008]
Expression
Biased expression in kidney (RPKM 3.0), skin (RPKM 2.7) and 4 other tissues See more
Orthologs
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Genomic context

See TFAP2B in Genome Data Viewer
Location:
6p12.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (50817692..50847619)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (50786584..50815332)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1859 Neighboring gene transcription factor AP-2 delta Neighboring gene uncharacterized LOC105375084 Neighboring gene ribosomal protein S17 pseudogene 5 Neighboring gene transportin 3 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

Associated conditions

Description Tests
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
GeneReviews: Not available
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
GeneReviews: Not available
Char syndrome
MedGen: C1868570 OMIM: 169100 GeneReviews: Char Syndrome
Compare labs
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.
GeneReviews: Not available
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
GeneReviews: Not available
Genome-wide population-based association study of extremely overweight young adults--the GOYA study.
GeneReviews: Not available
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
GeneReviews: Not available
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
GeneReviews: Not available
Patent ductus arteriosus 2
MedGen: C4284595 OMIM: 617035 GeneReviews: Not available
Compare labs

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated 2015-08-13)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated 2015-08-13)

ClinGen Genome Curation PagePubMed

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC21381

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding TAS
Traceable Author Statement
more info
PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription activator activity, RNA polymerase II-specific ISS
Inferred from Sequence or Structural Similarity
more info
 
enables DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables chromatin binding IEA
Inferred from Electronic Annotation
more info
 
enables cis-regulatory region sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
enables sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables sequence-specific double-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
involved_in anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in calcium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular ammonium homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular creatinine homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in cellular urea homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in collecting duct development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in distal tubule development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ductus arteriosus closure ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in fat cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in forelimb morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in gene expression IEA
Inferred from Electronic Annotation
more info
 
involved_in glucose homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glucose metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in hindlimb morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in magnesium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in metanephric nephron development IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_negative_effect negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in negative regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in phosphate ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of cell population proliferation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of neuron apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of urine volume ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in potassium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in regulation of cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of cell population proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in regulation of insulin secretion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in renal water homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in response to xenobiotic stimulus IEA
Inferred from Electronic Annotation
more info
 
involved_in retina layer formation IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in skin development IEA
Inferred from Electronic Annotation
more info
 
involved_in smooth muscle tissue development IEA
Inferred from Electronic Annotation
more info
 
involved_in sodium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in sympathetic nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
located_in chromatin ISA
Inferred from Sequence Alignment
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 IC
Inferred by Curator
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
transcription factor AP-2-beta
Names
AP2-beta
activating enhancer binding protein 2 beta

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

Genomic

  1. NG_008438.1 RefSeqGene

    Range
    5146..33894
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_003221.4NP_003212.2  transcription factor AP-2-beta

    See identical proteins and their annotated locations for NP_003212.2

    Status: REVIEWED

    Source sequence(s)
    AL049693, BC037225, BU738725
    Consensus CDS
    CCDS4934.2
    UniProtKB/Swiss-Prot
    Q92481
    Related
    ENSP00000377265.2, ENST00000393655.4
    Conserved Domains (1) summary
    pfam03299
    Location:230424
    TF_AP-2; Transcription factor AP-2

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p13 Primary Assembly

    Range
    50817692..50847619
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011233.1XP_016866722.1  transcription factor AP-2-beta isoform X1

  2. XM_017011234.1XP_016866723.1  transcription factor AP-2-beta isoform X2

  3. XM_011514837.2XP_011513139.1  transcription factor AP-2-beta isoform X3

    See identical proteins and their annotated locations for XP_011513139.1

    UniProtKB/Swiss-Prot
    Q92481
    Conserved Domains (1) summary
    pfam03299
    Location:239433
    TF_AP-2; Transcription factor AP-2
  4. XM_017011235.2XP_016866724.1  transcription factor AP-2-beta isoform X4

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