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

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; AllianceGenome:HGNC:11743
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: mouse all
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Genomic context

Location:: 6p12.3

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (50818355..50847619)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (50660443..50690369)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (50786584..50815332)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Novel Circular RNA CircUBAP2 Drives Tumor Progression by Regulating the miR-143/TFAP2B Axis in Prostate Cancer.
Title: Novel Circular RNA CircUBAP2 Drives Tumor Progression by Regulating the miR-143/TFAP2B Axis in Prostate Cancer.
Transcription factor activating enhancer-binding protein 2B expression correlates with invasiveness and prognosis of extramammary Paget's disease.
Title: Transcription factor activating enhancer-binding protein 2B expression correlates with invasiveness and prognosis of extramammary Paget's disease.
TRIM37 Augments AP-2gamma Transcriptional Activity and Cellular Localization via K63-linked Ubiquitination to Drive Breast Cancer Progression.
Title: TRIM37 Augments AP-2γ Transcriptional Activity and Cellular Localization via K63-linked Ubiquitination to Drive Breast Cancer Progression.
Co-expression of transcription factor AP-2beta (TFAP2B) and GATA3 in human mammary epithelial cells with intense, apicobasal immunoreactivity for CK8/18.
Title: Co-expression of transcription factor AP-2beta (TFAP2B) and GATA3 in human mammary epithelial cells with intense, apicobasal immunoreactivity for CK8/18.
Transcription factor AP-2beta in development, differentiation and tumorigenesis.
Title: Transcription factor AP-2beta in development, differentiation and tumorigenesis.
Comprehensive analysis of the expression and prognosis for TFAP2 in human lung carcinoma.
Title: Comprehensive analysis of the expression and prognosis for TFAP2 in human lung carcinoma.
TFAP2B, AP-1 and JAZF1 Expression in Tissues of Papillary Thyroid Carcinoma Patients; Clinical, Pathological and Prognostic Values.
Title: TFAP2B, AP-1 and JAZF1 Expression in Tissues of Papillary Thyroid Carcinoma Patients; Clinical, Pathological and Prognostic Values.
The role of reward sensitivity in obesity and its association with Transcription Factor AP-2B: A longitudinal birth cohort study.
Title: The role of reward sensitivity in obesity and its association with Transcription Factor AP-2B: A longitudinal birth cohort study.
TFAP2B bound to the promoter of COX-2 to activate its expression, indicating that TFAP2B is a critical regulatory molecule in the COX-2 signaling pathway that promoted tumor progression in thyroid cancer.
Title: TFAP2B overexpression contributes to tumor growth and progression of thyroid cancer through the COX-2 signaling pathway.
PKD knockdown in human umbilical vein endothelial cells increases binding of AP2beta to the VEGFR-2 promoter.
Title: Protein kinase D up-regulates transcription of VEGF receptor-2 in endothelial cells by suppressing nuclear localization of the transcription factor AP2β.

Submit: New GeneRIF Correction See all GeneRIFs (64)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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 Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2023-04-11) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2023-04-11) ClinGen Genome Curation Page

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH65802 (e-PCR)
- UniSTS:76313

Tcfap2b (e-PCR), detects polymorphism
- UniSTS:507437

RH74906 (e-PCR)
- UniSTS:88389

PMC316415P4 (e-PCR)
- UniSTS:272989

SGC31053 (e-PCR)
- UniSTS:24272

TFAP2B_2106 (e-PCR)
- UniSTS:281053

RH46680 (e-PCR)
- UniSTS:71657

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
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
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
involved_in aorta morphogenesis	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 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 metanephric nephron development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
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 neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
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 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
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
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 sympathetic nervous system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of 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
located_in nucleus	IC Inferred by Curator more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcription factor AP-2-beta

Names: AP2-beta; activating enhancer binding protein 2 beta

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.

Genomic

NG_008438.1 RefSeqGene

Range

5146..33894

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_003221.4 → NP_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

Q5JYX6, Q92481, Q9NQ63, Q9NU99, Q9UJI7, Q9Y214, Q9Y3K3

UniProtKB/TrEMBL

B2R9E2

Related

ENSP00000377265.2, ENST00000393655.4

Conserved Domains (1) summary

pfam03299
Location:230 → 424

TF_AP-2; Transcription factor AP-2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

50818355..50847619

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

B2R9E2
XM_017011234.2 → XP_016866723.1 transcription factor AP-2-beta isoform X2

UniProtKB/TrEMBL

B2R9E2
XM_011514837.3 → XP_011513139.1 transcription factor AP-2-beta isoform X3

See identical proteins and their annotated locations for XP_011513139.1

UniProtKB/TrEMBL

B2R9E2

Conserved Domains (1) summary

pfam03299
Location:239 → 433

TF_AP-2; Transcription factor AP-2
XM_017011235.3 → XP_016866724.1 transcription factor AP-2-beta isoform X4