TFAP2A (transcription factor AP-2 alpha)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7020
Gene name Gene Name - the full gene name approved by the HGNC.
Transcription factor AP-2 alpha
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TFAP2A
Synonyms (NCBI Gene) Gene synonyms aliases
AP-2, AP-2alpha, AP2TF, BOFS, TFAP2
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p24.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
107580 11742 ENSG00000137203
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
branchiooculofacial syndrome Branchiooculofacial syndrome rs1581262652, rs1554110673, rs151344527, rs1554110994, rs151344531, rs121909574, rs151344528, rs121909575, rs1554111717, rs267607108, rs1554111734, rs151344525, rs793888540, rs1554111751, rs793888541
View all (4 more)		 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer in BRCA2 mutation carriers N/A N/A GWAS
Show/Hide Text Mining Associations (101)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 32015686, 32294625, 32533823, 37322027
Adenocarcinoma of Lung Stimulate 33824285, 39187936
Alzheimer Disease Associate 24067654
Anophthalmos Associate 27609212
Arthritis Rheumatoid Associate 30820026
Astrocytoma Associate 17471019, 8922411
Autoimmune Diseases Associate 29561802
Branchial Cleft Anomalies Associate 23578821
Branchio Oto Renal Syndrome Associate 18423521, 21781438, 23541344, 23578821, 27609212
Breast Neoplasms Associate 10497269, 11278455, 14565844, 15467710, 15870067, 15891112, 16260418, 16533807, 16859522, 18218085, 18825690, 19906305, 20025767, 21876733, 23544012
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