TFAP2A (transcription factor AP-2 alpha)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7020
Gene name Transcription factor AP-2 alpha
Gene symbol TFAP2A
Synonyms (NCBI Gene)
AP-2AP-2alphaAP2TFBOFSTFAP2
Chromosome 6
Chromosome location 6p24.3
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
SNPs SNP information provided by dbSNP.
6
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
SNP ID Visualize variation Clinical significance Consequence
rs267607108 C>T Pathogenic Coding sequence variant, missense variant
rs1554110673 T>C Likely-pathogenic Stop lost, terminator codon variant
rs1554110735 TT>- Pathogenic Coding sequence variant, frameshift variant
rs1554110994 C>G Likely-pathogenic Missense variant, coding sequence variant
rs1554112492 ->CCGTGCA Likely-pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
640
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (640)
miRTarBase ID miRNA Experiments Reference
MIRT024195 hsa-miR-221-3p Sequencing 20371350
MIRT027191 hsa-miR-103a-3p Sequencing 20371350
MIRT027773 hsa-miR-98-5p Microarray 19088304
MIRT031854 hsa-miR-16-5p Sequencing 20371350
MIRT044482 hsa-miR-320a CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
Transcription factor Regulation Reference
ETS1 Activation 12843180
KLF12 Repression 10704285;11373277
NR2F2 Activation 20195529
YY1 Activation 18218085
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
62
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (62)
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IDA 8321221, 9520389, 20066163
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 12586840, 18718911, 31146003
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 7555706, 7559606, 9520389, 21084835
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
107580 11742 ENSG00000137203
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P05549
Protein name Transcription factor AP-2-alpha (AP2-alpha) (AP-2 transcription factor) (Activating enhancer-binding protein 2-alpha) (Activator protein 2) (AP-2)
Protein function Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a la
PDB 8J0K , 8J0L , 8J0R
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03299 TF_AP-2 211 → 405 Transcription factor AP-2 Family
Sequence 
MLWKLTDNIKYEDCEDRHDGTSNGTARLPQLGTVGQSPYTSAPPLSHTPNADFQPPYFPP
PYQPIYPQSQDPYSHVNDPYSLNPLHAQPQPQHPGWPGQRQSQESGLLHTHRGLPHQLSG
LDPRRDYRRHEDLLHGPHALSSGLGDLSIHSLPHAIEEVPHVEDPGINIPDQTVIKKGPV
SLSKSNSNAVSAIPINKDNLFGGVVNPNEVFCSVPGRLSLLSSTSKYKVTVAEVQRRLSP
PECLNASLLGGVLRRAKSKNGGRSLREKLDKIGLNLPAGRRKAANVTLLTSLVEGEAVHL
ARDFGYVCETEFPAKAVAEFLNRQHSDPNEQVTRKNMLLATKQICKEFTDLLAQDRSPLG
NSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTEALKAMDKMYLSNNPNS
HTDNNAKSSDKEEKHRK
Sequence length 437
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors
Negative regulation of activity of TFAP2 (AP-2) family transcription factors
TFAP2 (AP-2) family regulates transcription of other transcription factors
Activation of the TFAP2 (AP-2) family of transcription factors
TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
TFAP2 (AP-2) family regulates transcription of cell cycle factors
TFAP2A acts as a transcriptional repressor during retinoic acid induced cell differentiation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Branchiooculofacial syndrome Likely pathogenic; Pathogenic rs1757903817, rs1762047599, rs2114014223, rs2114014460, rs2532377146, rs793888540, rs793888541, rs111460784, rs1761968190, rs2532363988, rs121909574, rs121909575, rs2532363719, rs2532358223, rs267607108
View all (16 more)		 RCV001329052
RCV001336553
RCV002226999
RCV002272588
RCV002471854
View all (28 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Chromatinopathy Pathogenic rs121909574 RCV001261299
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Melnick-Fraser syndrome Likely pathogenic rs2113228864 RCV001375377
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TFAP2A-related disorder Likely pathogenic rs2114014460 RCV003933735
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (19)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMBLYOPIA — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRANCHIO-OCULO-FACIAL SYNDROME — Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRANCHIO-OTO-RENAL SYNDROME — CTD, Disgenet
CTD, Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (251)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Accessory nipple Accessory Nipple HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11429425, 15864740
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 19701232, 31337972
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of prostate Prostate adenocarcinoma BEFREE 11751506, 21940908
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 19376641
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 24067654 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Anaplastic thyroid carcinoma Anaplastic thyroid cancer BEFREE 29383121
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Anemia BEFREE 19376641
★★★★★
★☆☆☆☆
Found in Text Mining only
Anophthalmos Syndromic microphthalmia BEFREE 19685247, 27609212
★★★★★
★☆☆☆☆
Found in Text Mining only
Anophthalmos Anophthalmia Pubtator 27609212 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only