TFAP2D (transcription factor AP-2 delta)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
83741
Gene name Gene Name - the full gene name approved by the HGNC.
Transcription factor AP-2 delta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TFAP2D
Synonyms (NCBI Gene) Gene synonyms aliases
AP-2delta, TFAP2BL1
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p12.3
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
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 information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610161 15581 ENSG00000008197
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (5)
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 specific mortality in breast cancer N/A N/A GWAS
Diabetes Type 2 diabetes (PheCode 250.2), Type 2 diabetes with neurological manifestations (PheCode 250.24) N/A N/A GWAS
Hypertension Hypertension N/A N/A GWAS
Metabolic Syndrome Metabolic syndrome N/A N/A GWAS
Show/Hide Text Mining Associations (5)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36552887
Lymphatic Metastasis Stimulate 32143573
Neoplasms Associate 32143573, 36552887
Prostatic Neoplasms Stimulate 32143573
Stomach Neoplasms Associate 36552887