TFAP2D (transcription factor AP-2 delta)

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Gene Gene information from NCBI Gene database.
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Entrez ID 83741
Gene name Transcription factor AP-2 delta
Gene symbol TFAP2D
Synonyms (NCBI Gene)
AP-2deltaTFAP2BL1
Chromosome 6
Chromosome location 6p12.3
miRNA miRNA information provided by mirtarbase database.
5
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miRTarBase ID miRNA Experiments Reference
MIRT1419951 hsa-miR-129-5p CLIP-seq
MIRT1419952 hsa-miR-2355-3p CLIP-seq
MIRT1419953 hsa-miR-4646-3p CLIP-seq
MIRT1419954 hsa-miR-579 CLIP-seq
MIRT1419955 hsa-miR-676 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20 Show/Hide all (20)
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GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IEA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
610161 15581 ENSG00000008197
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z6R9
Protein name Transcription factor AP-2-delta (AP2-delta) (Activating enhancer-binding protein 2-delta) (Transcription factor AP-2-beta-like 1)
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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03299 TF_AP-2 211 → 405 Transcription factor AP-2 Family
Tissue specificity TISSUE SPECIFICITY: Highly expressed in brain, placenta, skeletal muscle, thymus, small intestine, and prostate, and expressed at lower levels in leukocyte, spleen, testis, ovary and colon. Barely detectable in heart, kidney, liver, lung or pancreas. {ECO
Sequence 
MSTTFPGLVHDAEIRHDGSNSYRLMQLGCLESVANSTVAYSSSSPLTYSTTGTEFASPYF
STNHQYTPLHHQSFHYEFQHSHPAVTPDAYSLNSLHHSQQYYQQIHHGEPTDFINLHNAR
ALKSSCLDEQRRELGCLDAYRRHDLSLMSHGSQYGMHPDQRLLPGPSLGLAAAGADDLQG
SVEAQCGLVLNGQGGVIRRGGTCVVNPTDLFCSVPGRLSLLSSTSKYKVTIAEVKRRLSP
PECLNASLLGGILRRAKSKNGGRCLREKLDRLGLNLPAGRRKAANVTLLTSLVEGEALHL
ARDFGYTCETEFPAKAVGEHLARQHMEQKEQTARKKMILATKQICKEFQDLLSQDRSPLG
SSRPTPILDLDIQRHLTHFSLITHGFGTPAICAALSTFQTVLSEMLNYLEKHTTHKNGGA
ADSGQGHANSEKAPLRKTSEAAVKEGKTEKTD
Sequence length 452
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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Reactome Pathway
Negative regulation of activity of TFAP2 (AP-2) family transcription factors
Activation of the TFAP2 (AP-2) family of transcription factors
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
18
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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)
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.
Show/Hide Unknown Diseases (18)
Phenotype Name Clinical Significance Source Reference Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER — GWAS catalog 33479212, 35764056
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER — GWAS catalog 35764056
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER — GWAS catalog 24322204
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BLADDER CALCULUS — GWAS catalog 39024449
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE — GWAS catalog 30595370
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (7)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Lymphatic Metastasis Lymphatic metastasis Pubtator 32143573 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Major Depressive Disorder Mental Depression GWASCAT_DG 27622933
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Mood Disorders Mood Disorder GWASCAT_DG 27622933
★★★★★
★☆☆☆☆
Found in Text Mining only
Prostatic Neoplasms Prostatic neoplasm Pubtator 32143573 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Stomach Neoplasms Stomach neoplasms Pubtator 36552887 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Unipolar Depression Mental Depression GWASCAT_DG 27622933
★★★★★
★☆☆☆☆
Found in Text Mining only
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TFAP2B 6 shared diseasesBladder calculus, Diabetes mellitus, Diabetic neuropathy, Nephrolithiasis, Psychiatric disorders, Urolithiasis 2 shared pathwaysActivation of the TFAP2 (AP-2) family of transcription factors, Negative regulation of activity of TFAP2 (AP-2) family transcription factors 6 shared evidence sourcesGWAS catalog (Bladder calculus), GWAS catalog (Diabetes mellitus), GWAS catalog (Diabetic neuropathy), GWAS catalog (Nephrolithiasis), GWAS catalog (Psychiatric disorders), GWAS catalog (Urolithiasis) Related via 6 shared diseases including Bladder calculus, Diabetes mellitus — evidence mostly GWAS catalog. CDK12 5 shared diseasesBladder calculus, Diabetes mellitus, Diabetic neuropathy, Nephrolithiasis, Urolithiasis 5 shared evidence sourcesGWAS catalog (Bladder calculus), GWAS catalog (Diabetes mellitus), GWAS catalog (Diabetic neuropathy), GWAS catalog (Nephrolithiasis), GWAS catalog (Urolithiasis) Related via 5 shared diseases including Bladder calculus, Diabetes mellitus — evidence mostly GWAS catalog. BCAS1 4 shared diseasesBladder calculus, Diabetic neuropathy, Nephrolithiasis, Urolithiasis 4 shared evidence sourcesGWAS catalog (Bladder calculus), GWAS catalog (Diabetic neuropathy), GWAS catalog (Nephrolithiasis), GWAS catalog (Urolithiasis) Related via 4 shared diseases including Bladder calculus, Diabetic neuropathy — evidence mostly GWAS catalog. DGKH 4 shared diseasesBladder calculus, Diabetic neuropathy, Nephrolithiasis, Urolithiasis 3 shared evidence sourcesGWAS catalog (Bladder calculus), GWAS catalog (Nephrolithiasis), GWAS catalog (Urolithiasis) Related via 4 shared diseases including Bladder calculus, Diabetic neuropathy — evidence mostly GWAS catalog. RSPH14 3 shared diseasesBladder calculus, Nephrolithiasis, Urolithiasis 3 shared evidence sourcesGWAS catalog (Bladder calculus), GWAS catalog (Nephrolithiasis), GWAS catalog (Urolithiasis) Related via 3 shared diseases including Bladder calculus, Nephrolithiasis — evidence mostly GWAS catalog.
Coronary artery disease Linked via 4 of 5 related genesTFAP2B, CDK12, DGKH, RSPH14 Schizophrenia Linked via 3 of 5 related genesTFAP2B, CDK12, BCAS1 Tourette syndrome Linked via 2 of 5 related genesTFAP2B, CDK12 Prostatic neoplasms Linked via 2 of 5 related genesCDK12, BCAS1 Oligodendroglioma Linked via 2 of 5 related genesBCAS1, DGKH