Gene Gene information from NCBI Gene database.
Entrez ID 7023
Gene name Transcription factor AP-4
Gene symbol TFAP4
Synonyms (NCBI Gene)
AP-4bHLHc41
Chromosome 16
Chromosome location 16p13.3
Summary Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding, and HLH and ZIP domains, which are used for oligomerization. Transcription factor AP4 activates both viral and cellular gen
miRNA miRNA information provided by mirtarbase database.
186
miRTarBase ID miRNA Experiments Reference
MIRT002538 hsa-miR-373-3p Microarray 15685193
MIRT018094 hsa-miR-335-5p Microarray 18185580
MIRT002538 hsa-miR-373-3p Microarray;Other 15685193
MIRT022725 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT027354 hsa-miR-101-3p Sequencing 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
MYC Activation 19270520
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription cis-regulatory region binding IDA 2833704, 14645924, 16540471
GO:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600743 11745 ENSG00000090447
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q01664
Protein name Transcription factor AP-4 (Activating enhancer-binding protein 4) (Class C basic helix-loop-helix protein 41) (bHLHc41)
Protein function Transcription factor that activates both viral and cellular genes by binding to the symmetrical DNA sequence 5'-CAGCTG-3'.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00010 HLH 49 100 Helix-loop-helix DNA-binding domain Domain
Sequence
MEYFMVPTQKVPSLQHFRKTEKEVIGGLCSLANIPLTPETQRDQERRIRREIANSNERRR
MQSINAGFQSLKTLIPHTDGEKLSKAAILQQTAEYIFSLE
QEKTRLLQQNTQLKRFIQEL
SGSSPKRRRAEDKDEGIGSPDIWEDEKAEDLRREMIELRQQLDKERSVRMMLEEQVRSLE
AHMYPEKLKVIAQQVQLQQQQEQVRLLHQEKLEREQQQLRTQLLPPPAPTHHPTVIVPAP
PPPPSHHINVVTMGPSSVINSVSTSRQNLDTIVQAIQHIEGTQEKQELEEEQRRAVIVKP
VRSCPEAPTSDTASDSEASDSDAMDQSREEPSGDGELP
Sequence length 338
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Proteoglycans in cancer  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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.
Phenotype Name Clinical Significance Source Evidence Score
PROSTATE CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 20230749, 20580132, 24498434 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal Recessive Primary Microcephaly Primary microcephaly Pubtator 28464862 Associate
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 18818310, 19619298, 21719561 Associate
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt lymphoma Pubtator 28465297 Associate
★☆☆☆☆
Found in Text Mining only
Burkitt Lymphoma Burkitt`s Lymphoma BEFREE 29132323
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 22615908, 29132323, 33373169 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 23055200, 25195135, 30026867, 31281549, 35001801 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Palsy Cerebral palsy Pubtator 20972249 Associate
★☆☆☆☆
Found in Text Mining only
Cerebral Palsy Cerebral palsy BEFREE 24065543
★☆☆☆☆
Found in Text Mining only
Colonic Neoplasms Colonic neoplasm Pubtator 28742206 Associate
★☆☆☆☆
Found in Text Mining only