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TFAP4 (transcription factor AP-4)

Identity

Alias_namestranscription factor AP-4 (activating enhancer-binding protein 4)
Alias_symbol (synonym)AP-4
bHLHc41
Other alias
HGNC (Hugo) TFAP4
LocusID (NCBI) 7023
Atlas_Id 51479
Location 16p13.3  [Link to chromosome band 16p13]
Location_base_pair Starts at 4257186 and ends at 4273000 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ADCY9 (16p13.3) / TFAP4 (16p13.3)ANO9 (11p15.5) / TFAP4 (16p13.3)ADCY9 16p13.3 / TFAP4 16p13.3

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)TFAP4   11745
Cards
Entrez_Gene (NCBI)TFAP4  7023  transcription factor AP-4
AliasesAP-4; bHLHc41
GeneCards (Weizmann)TFAP4
Ensembl hg19 (Hinxton)ENSG00000090447 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000090447 [Gene_View]  chr16:4257186-4273000 [Contig_View]  TFAP4 [Vega]
ICGC DataPortalENSG00000090447
TCGA cBioPortalTFAP4
AceView (NCBI)TFAP4
Genatlas (Paris)TFAP4
WikiGenes7023
SOURCE (Princeton)TFAP4
Genetics Home Reference (NIH)TFAP4
Genomic and cartography
GoldenPath hg38 (UCSC)TFAP4  -     chr16:4257186-4273000 -  16p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TFAP4  -     16p13.3   [Description]    (hg19-Feb_2009)
EnsemblTFAP4 - 16p13.3 [CytoView hg19]  TFAP4 - 16p13.3 [CytoView hg38]
Mapping of homologs : NCBITFAP4 [Mapview hg19]  TFAP4 [Mapview hg38]
OMIM600743   
Gene and transcription
Genbank (Entrez)AB209146 AK309301 BC010576 BC039696 BU159415
RefSeq transcript (Entrez)NM_003223
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)TFAP4
Cluster EST : UnigeneHs.513305 [ NCBI ]
CGAP (NCI)Hs.513305
Alternative Splicing GalleryENSG00000090447
Gene ExpressionTFAP4 [ NCBI-GEO ]   TFAP4 [ EBI - ARRAY_EXPRESS ]   TFAP4 [ SEEK ]   TFAP4 [ MEM ]
Gene Expression Viewer (FireBrowse)TFAP4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7023
GTEX Portal (Tissue expression)TFAP4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ01664   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ01664  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ01664
Splice isoforms : SwissVarQ01664
PhosPhoSitePlusQ01664
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (EBI)bHLH_dom   
Domain families : Pfam (Sanger)HLH (PF00010)   
Domain families : Pfam (NCBI)pfam00010   
Domain families : Smart (EMBL)HLH (SM00353)  
Conserved Domain (NCBI)TFAP4
DMDM Disease mutations7023
Blocks (Seattle)TFAP4
SuperfamilyQ01664
Human Protein AtlasENSG00000090447
Peptide AtlasQ01664
HPRD11795
IPIIPI00009005   IPI00556379   
Protein Interaction databases
DIP (DOE-UCLA)Q01664
IntAct (EBI)Q01664
FunCoupENSG00000090447
BioGRIDTFAP4
STRING (EMBL)TFAP4
ZODIACTFAP4
Ontologies - Pathways
QuickGOQ01664
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  transcription coactivator activity  protein binding  nucleus  mitochondrion  transcription from RNA polymerase II promoter  protein complex assembly  DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator  negative regulation of cell proliferation  transcriptional repressor complex  protein homodimerization activity  histone deacetylase binding  positive regulation of apoptotic process  negative regulation of DNA binding  sequence-specific DNA binding  negative regulation by host of viral transcription  negative regulation by host of viral transcription  positive regulation by host of viral transcription  transcription regulatory region DNA binding  negative regulation of cyclin-dependent protein serine/threonine kinase activity  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  E-box binding  negative regulation of cell cycle arrest  cellular response to dexamethasone stimulus  regulation of mitotic cell cycle phase transition  positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding  DNA binding  transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding  transcription coactivator activity  protein binding  nucleus  mitochondrion  transcription from RNA polymerase II promoter  protein complex assembly  DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator  negative regulation of cell proliferation  transcriptional repressor complex  protein homodimerization activity  histone deacetylase binding  positive regulation of apoptotic process  negative regulation of DNA binding  sequence-specific DNA binding  negative regulation by host of viral transcription  negative regulation by host of viral transcription  positive regulation by host of viral transcription  transcription regulatory region DNA binding  negative regulation of cyclin-dependent protein serine/threonine kinase activity  negative regulation of transcription, DNA-templated  negative regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  E-box binding  negative regulation of cell cycle arrest  cellular response to dexamethasone stimulus  regulation of mitotic cell cycle phase transition  positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway  
Pathways : KEGGProteoglycans in cancer   
NDEx NetworkTFAP4
Atlas of Cancer Signalling NetworkTFAP4
Wikipedia pathwaysTFAP4
Orthology - Evolution
OrthoDB7023
GeneTree (enSembl)ENSG00000090447
Phylogenetic Trees/Animal Genes : TreeFamTFAP4
HOVERGENQ01664
HOGENOMQ01664
Homologs : HomoloGeneTFAP4
Homology/Alignments : Family Browser (UCSC)TFAP4
Gene fusions - Rearrangements
Fusion : MitelmanADCY9/TFAP4 [16p13.3/16p13.3]  [t(16;16)(p13;p13)]  
Fusion: TCGAADCY9 16p13.3 TFAP4 16p13.3 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTFAP4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TFAP4
dbVarTFAP4
ClinVarTFAP4
1000_GenomesTFAP4 
Exome Variant ServerTFAP4
ExAC (Exome Aggregation Consortium)TFAP4 (select the gene name)
Genetic variants : HAPMAP7023
Genomic Variants (DGV)TFAP4 [DGVbeta]
DECIPHERTFAP4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTFAP4 
Mutations
ICGC Data PortalTFAP4 
TCGA Data PortalTFAP4 
Broad Tumor PortalTFAP4
OASIS PortalTFAP4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTFAP4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDTFAP4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch TFAP4
DgiDB (Drug Gene Interaction Database)TFAP4
DoCM (Curated mutations)TFAP4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TFAP4 (select a term)
intoGenTFAP4
Cancer3DTFAP4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600743   
Orphanet
MedgenTFAP4
Genetic Testing Registry TFAP4
NextProtQ01664 [Medical]
TSGene7023
GENETestsTFAP4
Target ValidationTFAP4
Huge Navigator TFAP4 [HugePedia]
snp3D : Map Gene to Disease7023
BioCentury BCIQTFAP4
ClinGenTFAP4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7023
Chemical/Pharm GKB GenePA36462
Clinical trialTFAP4
Miscellaneous
canSAR (ICR)TFAP4 (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTFAP4
EVEXTFAP4
GoPubMedTFAP4
iHOPTFAP4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:59:08 CEST 2017

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