Gene Gene information from NCBI Gene database.
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
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
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.
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
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.
MIM HGNC e!Ensembl
107580 11742 ENSG00000137203
Protein Protein information from UniProt database.
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
NSRPNPILEPGIQSCLTHFNLISHGFGSPAVCAAVTALQNYLTEA
LKAMDKMYLSNNPNS
HTDNNAKSSDKEEKHRK
Sequence length 437
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
95
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
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
RCV000172980
RCV000172981
RCV003314315
RCV005871260
RCV003991890
RCV000019530
RCV000019531
RCV000019532
RCV000019534
RCV000019535
RCV000019536
RCV000660306
RCV001270676
RCV000660309
RCV000660308
RCV000660307
RCV000660305
RCV000660304
RCV000660303
RCV000660302
RCV000660301
RCV000660300
RCV000660299
RCV000677704
RCV000995666
RCV001029733
RCV001198037
RCV001262709
Chromatinopathy Pathogenic rs121909574 RCV001261299
Melnick-Fraser syndrome Likely pathogenic rs2113228864 RCV001375377
TFAP2A-related disorder Likely pathogenic rs2114014460 RCV003933735
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Neurodevelopmental abnormality Uncertain significance rs1761873980 RCV001264662
Associations from Text MiningDisease 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
View all (5 more)