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

Gene ID: 7021, updated on 5-Apr-2020

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
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

Genomic context

See TFAP2B in Genome Data Viewer
Location:
6p12.3
Exon count:
11
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 6 NC_000006.12 (50817692..50847619)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (50786439..50815326)

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
Char syndrome
MedGen: C1868570 OMIM: 169100 GeneReviews: Char Syndrome
Compare labs
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

NHGRI GWAS Catalog

Description
A bivariate genome-wide approach to metabolic syndrome: STAMPEED consortium.
NHGRI GWA Catalog
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.
NHGRI GWA Catalog
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution.
NHGRI GWA Catalog
Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
NHGRI GWA Catalog
Genome-wide population-based association study of extremely overweight young adults--the GOYA study.
NHGRI GWA Catalog
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
NHGRI GWA Catalog

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
DNA binding TAS
Traceable Author Statement
more info
PubMed 
DNA-binding transcription activator activity, RNA polymerase II-specific IEA
Inferred from Electronic Annotation
more info
 
DNA-binding transcription factor activity IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific IDA
Inferred from Direct Assay
more info
PubMed 
DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Inferred from Sequence Alignment
more info
 
DNA-binding transcription factor activity, RNA polymerase II-specific ISM
Inferred from Sequence Model
more info
PubMed 
RNA polymerase II proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
RNA polymerase II regulatory region sequence-specific DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
cysteine-type endopeptidase inhibitor activity involved in apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
proximal promoter sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
sequence-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription coactivator activity ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription corepressor activity IDA
Inferred from Direct Assay
more info
PubMed 
transcription corepressor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
anatomical structure development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aorta morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
apoptotic process IEA
Inferred from Electronic Annotation
more info
 
calcium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular ammonia homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular creatinine homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular urea homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
collecting duct development ISS
Inferred from Sequence or Structural Similarity
more info
 
distal tubule development ISS
Inferred from Sequence or Structural Similarity
more info
 
ductus arteriosus closure ISS
Inferred from Sequence or Structural Similarity
more info
 
fat cell differentiation IEP
Inferred from Expression Pattern
more info
PubMed 
forelimb morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
glucose homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
glucose metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
hindlimb morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
kidney development ISS
Inferred from Sequence or Structural Similarity
more info
 
magnesium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
metanephric nephron development IEA
Inferred from Electronic Annotation
more info
 
negative regulation of apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of neuron apoptotic process IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
negative regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
phosphate ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of neuron apoptotic process IDA
Inferred from Direct Assay
more info
PubMed 
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
 
positive regulation of transcription, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription, DNA-templated IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of urine volume ISS
Inferred from Sequence or Structural Similarity
more info
 
potassium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of BMP signaling pathway ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cell proliferation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of insulin secretion 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, DNA-templated IDA
Inferred from Direct Assay
more info
PubMed 
renal water homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
response to drug IEA
Inferred from Electronic Annotation
more info
 
retina layer formation IEP
Inferred from Expression Pattern
more info
PubMed 
skin development IEA
Inferred from Electronic Annotation
more info
 
sodium ion homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
sympathetic nervous system development ISS
Inferred from Sequence or Structural Similarity
more info
 
transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cell IEA
Inferred from Electronic Annotation
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IC
Inferred by Curator
more info
PubMed 
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)

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.

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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