TFAP2A transcription factor AP-2 alpha [Homo sapiens (human)] - Gene

Summary

Official Symbol: TFAP2Aprovided by HGNC
Official Full Name: transcription factor AP-2 alphaprovided by HGNC
Primary source: HGNC:HGNC:11742
See related: Ensembl:ENSG00000137203 MIM:107580; AllianceGenome:HGNC:11742
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: AP-2; BOFS; AP2TF; TFAP2; AP-2alpha
Summary: The protein encoded by this gene is a transcription factor that binds the consensus sequence 5'-GCCNNNGGC-3'. The encoded protein functions as either a homodimer or as a heterodimer with similar family members. This protein activates the transcription of some genes while inhibiting the transcription of others. Defects in this gene are a cause of branchiooculofacial syndrome (BOFS). Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
Expression: Biased expression in skin (RPKM 17.3), placenta (RPKM 12.3) and 5 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p24.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (10396677..10419659, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (10264407..10287386, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (10396910..10419892, complement)

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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AP-2alpha decreases TMZ resistance of recurrent GBM by downregulating MGMT expression and improving DNA damage.
Title: AP-2α decreases TMZ resistance of recurrent GBM by downregulating MGMT expression and improving DNA damage.
The Aryl Hydrocarbon Receptor Regulates Epidermal Differentiation through Transient Activation of TFAP2A.
Title: The Aryl Hydrocarbon Receptor Regulates Epidermal Differentiation through Transient Activation of TFAP2A.
TFAP2A Activates S100A2 to Mediate Glutamine Metabolism and Promote Lung Adenocarcinoma Metastasis.
Title: TFAP2A Activates S100A2 to Mediate Glutamine Metabolism and Promote Lung Adenocarcinoma Metastasis.
AP-2alpha/AP-2beta Transcription Factors Are Key Regulators of Epidermal Homeostasis.
Title: AP-2α/AP-2β Transcription Factors Are Key Regulators of Epidermal Homeostasis.
TFAP2A downregulation mediates tumor-suppressive effect of miR-8072 in triple-negative breast cancer via inhibiting SNAI1 transcription.
Title: TFAP2A downregulation mediates tumor-suppressive effect of miR-8072 in triple-negative breast cancer via inhibiting SNAI1 transcription.
Endomucin selectively regulates vascular endothelial growth factor receptor-2 endocytosis through its interaction with AP2.
Title: Endomucin selectively regulates vascular endothelial growth factor receptor-2 endocytosis through its interaction with AP2.
Tyrosine phosphorylation-mediated YAP1-TFAP2A interactions coordinate transcription and trastuzumab resistance in HER2+ breast cancer.
Title: Tyrosine phosphorylation-mediated YAP1-TFAP2A interactions coordinate transcription and trastuzumab resistance in HER2+ breast cancer.
Potential prognosis and immunotherapy predictor TFAP2A in pan-cancer.
Title: Potential prognosis and immunotherapy predictor TFAP2A in pan-cancer.
TFAP2A activates HMGA1 to promote glycolysis and lung adenocarcinoma progression.
Title: TFAP2A activates HMGA1 to promote glycolysis and lung adenocarcinoma progression.
Structural basis for specific DNA sequence motif recognition by the TFAP2 transcription factors.
Title: Structural basis for specific DNA sequence motif recognition by the TFAP2 transcription factors.

Submit: New GeneRIF Correction See all GeneRIFs (181)

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
Anophthalmia-microphthalmia syndrome MedGen: C5680330 GeneReviews: Not available	Compare labs
Branchiooculofacial syndrome MedGen: C0376524 OMIM: 113620 GeneReviews: Branchiooculofacial Syndrome	Compare labs

EBI GWAS Catalog

Description
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations. 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)

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	c-FLIPL inhibits Bax activation via modulating PKC expression at the transcriptional level involving AP-2 during gp120 treatment	PubMed
Nef	nef	shRNA knockdown of TFAP2A (AP2) strongly impairs the capacity of Nef to downmodulate CD4 in primary CD4+ T cells and SupT1 T cells; Nef-mediated downmodulation of CD4 is enhanced by TFAP2A (AP2)	PubMed

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G15872 (e-PCR)
- UniSTS:55300

TFAP2A_7217 (e-PCR)
- UniSTS:468743

RH17802 (e-PCR)
- UniSTS:36683

Tfap2a (e-PCR), detects polymorphism
- UniSTS:547922

Tfap2a (e-PCR), detects polymorphism
- UniSTS:547923

TFAP2A (e-PCR), detects polymorphism
- UniSTS:279688

RH91941 (e-PCR)
- UniSTS:86439

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:259249

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:144563

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:259251

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:259252

RH102877 (e-PCR)
- UniSTS:97211

RH68004 (e-PCR)
- UniSTS:3004

Tcfap2a (e-PCR), detects polymorphism
- UniSTS:532464

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IEA Inferred from Electronic Annotation 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 DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
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	ISS Inferred from Sequence or Structural Similarity more info
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in bone morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to iron ion	IDA Inferred from Direct Assay more info	PubMed
involved_in embryonic cranial skeleton morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in embryonic forelimb morphogenesis	ISS Inferred from Sequence or Structural Similarity more info
involved_in eyelid development in camera-type eye	ISS Inferred from Sequence or Structural Similarity more info
involved_in inner ear morphogenesis	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in kidney development	IBA Inferred from Biological aspect of Ancestor more info
involved_in kidney development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of reactive oxygen species metabolic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by competitive promoter binding	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by competitive promoter binding	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in oculomotor nerve formation	ISS Inferred from Sequence or Structural Similarity more info
involved_in optic cup structural organization	ISS Inferred from Sequence or Structural Similarity more info
involved_in optic vesicle morphogenesis	ISS Inferred from Sequence or Structural Similarity 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	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of bone mineralization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of tooth mineralization	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation 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 retina layer formation	IEP Inferred from Expression Pattern more info	PubMed
involved_in roof of mouth development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sensory perception of sound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in skeletal system development	IBA Inferred from Biological aspect of Ancestor more info
involved_in trigeminal nerve 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	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
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IEA Inferred from Electronic Annotation more info
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: transcription factor AP-2-alpha

Names: AP-2 transcription factor; activating enhancer-binding protein 2-alpha; activator protein 2; transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)

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_016151.1 RefSeqGene

Range

9491..27888

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001032280.3 → NP_001027451.1 transcription factor AP-2-alpha isoform b

See identical proteins and their annotated locations for NP_001027451.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (b) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AL138885, BC017754, X52611

Consensus CDS

CCDS34337.1

UniProtKB/Swiss-Prot

P05549, Q13777, Q5TAV5, Q8N1C6

Related

ENSP00000368928.3, ENST00000379608.9

Conserved Domains (1) summary

pfam03299
Location:205 → 399

TF_AP-2; Transcription factor AP-2
NM_001042425.3 → NP_001035890.1 transcription factor AP-2-alpha isoform c

See identical proteins and their annotated locations for NP_001035890.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) differs in the 5' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct N-terminus compared to isoform a.

Source sequence(s)

AL138885, CB990517, X52611

Consensus CDS

CCDS43422.1

UniProtKB/Swiss-Prot

P05549, Q13777, Q5TAV5, Q8N1C6

Related

ENSP00000316516.4, ENST00000319516.8

Conserved Domains (1) summary

pfam03299
Location:207 → 401

TF_AP-2; Transcription factor AP-2
NM_001372066.1 → NP_001358995.1 transcription factor AP-2-alpha isoform a

Status: REVIEWED

Source sequence(s)

AL138885, BM714893, X52611

Consensus CDS

CCDS4510.2

UniProtKB/Swiss-Prot

P05549, Q13777, Q5TAV5, Q8N1C6

UniProtKB/TrEMBL

A0A6E1XE14

Related

ENSP00000368933.5, ENST00000379613.10

Conserved Domains (1) summary

pfam03299
Location:213 → 407

TF_AP-2; Transcription factor AP-2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

10396677..10419659 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060930.1 Alternate T2T-CHM13v2.0

Range

10264407..10287386 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_003220.3: Suppressed sequence

Description

NM_003220.3: This RefSeq was removed because currently there is support for the transcript but not for the protein