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Aliases for TFAP4 Gene

Aliases for TFAP4 Gene

  • Transcription Factor AP-4 2 3 5
  • Class C Basic Helix-Loop-Helix Protein 41 3 4
  • Activating Enhancer-Binding Protein 4 3 4
  • BHLHc41 3 4
  • Transcription Factor AP-4 (Activating Enhancer-Binding Protein 4) 2
  • Transcription Factor AP-4 (Activating Enhancer Binding Protein 4) 3
  • AP-4 3

External Ids for TFAP4 Gene

Previous GeneCards Identifiers for TFAP4 Gene

  • GC16M004330
  • GC16M004307

Summaries for TFAP4 Gene

Entrez Gene Summary for TFAP4 Gene

  • 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 genes by binding to the symmetrical DNA sequence CAGCTG (Mermod et al., 1988 [PubMed 2833704]; Hu et al., 1990 [PubMed 2123466]).[supplied by OMIM, Jul 2009]

GeneCards Summary for TFAP4 Gene

TFAP4 (Transcription Factor AP-4) is a Protein Coding gene. Diseases associated with TFAP4 include Spinocerebellar Ataxia 12. Among its related pathways are Proteoglycans in cancer. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein heterodimerization activity.

UniProtKB/Swiss-Prot for TFAP4 Gene

  • Transcription factor that activates both viral and cellular genes by binding to the symmetrical DNA sequence 5-CAGCTG-3.

Gene Wiki entry for TFAP4 Gene

Additional gene information for TFAP4 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TFAP4 Gene

Genomics for TFAP4 Gene

GeneHancer (GH) Regulatory Elements for TFAP4 Gene

Promoters and enhancers for TFAP4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16I004270 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 552.5 +0.4 360 4.5 HDGF PKNOX1 CLOCK FOXA2 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 TFAP4 GC16P004274 ZNF75A ZNF500 CREBBP ANKS3 ENSG00000261938 TIGD7 CLUAP1 ZNF597
GH16I003625 Enhancer 0.9 Ensembl ENCODE 10.5 +646.7 646667 1.7 CTCF CEBPG RBBP5 BATF RAD21 POLR2A RUNX3 SRF ZNF654 SOX6 GC16M003627 NLRC3 ZNF263 TFAP4 DNASE1 GC16P003615
GH16I004263 Enhancer 1.2 Ensembl ENCODE dbSUPER 0.4 +8.8 8823 2.1 HDGF KLF17 RAD21 GLIS2 KLF13 EGR2 SP3 SP5 ZNF398 SP1 LINC01569 GC16M004260 TFAP4
GH16I004271 Enhancer 0.6 ENCODE dbSUPER 0.8 +2.7 2747 0 SCRT1 SCRT2 TFAP4 GC16M004260
GH16I004261 Enhancer 0.7 ENCODE 0.4 +11.3 11310 0.2 MEIS2 CTCF ZBTB6 RB1 SAP130 SIN3A ZNF2 ZNF48 RAD21 CTBP1 GC16M004260 TFAP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TFAP4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TFAP4 gene promoter:

Genomic Locations for TFAP4 Gene

Genomic Locations for TFAP4 Gene
15,890 bases
Minus strand

Genomic View for TFAP4 Gene

Genes around TFAP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TFAP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TFAP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TFAP4 Gene

Proteins for TFAP4 Gene

  • Protein details for TFAP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Transcription factor AP-4
    Protein Accession:
    Secondary Accessions:
    • O60409

    Protein attributes for TFAP4 Gene

    338 amino acids
    Molecular mass:
    38726 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein. Homodimer.

neXtProt entry for TFAP4 Gene

Post-translational modifications for TFAP4 Gene

  • Ubiquitination at isoforms=189
  • Modification sites at PhosphoSitePlus

Other Protein References for TFAP4 Gene

No data available for DME Specific Peptides for TFAP4 Gene

Domains & Families for TFAP4 Gene

Gene Families for TFAP4 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for TFAP4 Gene

Suggested Antigen Peptide Sequences for TFAP4 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TFAP4: view

No data available for UniProtKB/Swiss-Prot for TFAP4 Gene

Function for TFAP4 Gene

Molecular function for TFAP4 Gene

GENATLAS Biochemistry:
transcription factor AP-4,activating enhancer binding protein 4,involved in signal-mediated trafficking of integral membrane proteins
UniProtKB/Swiss-Prot Function:
Transcription factor that activates both viral and cellular genes by binding to the symmetrical DNA sequence 5-CAGCTG-3.

Phenotypes From GWAS Catalog for TFAP4 Gene

Gene Ontology (GO) - Molecular Function for TFAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0003677 DNA binding IEA,IDA 9931457
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IDA 2833704
GO:0003713 NOT transcription coactivator activity IDA 11171123
GO:0005515 protein binding IPI 16924111
genes like me logo Genes that share ontologies with TFAP4: view
genes like me logo Genes that share phenotypes with TFAP4: view

Animal Models for TFAP4 Gene

MGI Knock Outs for TFAP4:

Animal Model Products

miRNA for TFAP4 Gene

miRTarBase miRNAs that target TFAP4

Transcription Factor Targets for TFAP4 Gene

Selected GeneGlobe predicted Target genes for TFAP4
Targeted motifs for TFAP4 Gene
HOMER Transcription Factor Regulatory Elements motif TFAP4
  • Consensus sequence: NAHCAGCTGD Submotif: canonical Cell Type: AML GEO ID: GSE45738

Clone Products

  • Addgene plasmids for TFAP4

No data available for Enzyme Numbers (IUBMB) and Human Phenotype Ontology for TFAP4 Gene

Localization for TFAP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TFAP4 Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TFAP4 gene
Compartment Confidence
nucleus 5
mitochondrion 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Mitochondria (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TFAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA,IEA 7933101
GO:0005739 mitochondrion IDA --
GO:0017053 transcriptional repressor complex ISS,IEA --
genes like me logo Genes that share ontologies with TFAP4: view

Pathways & Interactions for TFAP4 Gene

SuperPathways for TFAP4 Gene

SuperPathway Contained pathways
1 Proteoglycans in cancer
genes like me logo Genes that share pathways with TFAP4: view

Pathways by source for TFAP4 Gene

1 KEGG pathway for TFAP4 Gene

Gene Ontology (GO) - Biological Process for TFAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IEA --
GO:0006461 protein complex assembly IDA,IEA 19505873
GO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IDA 18818310
genes like me logo Genes that share ontologies with TFAP4: view

No data available for SIGNOR curated interactions for TFAP4 Gene

Drugs & Compounds for TFAP4 Gene

(1) Drugs for TFAP4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with TFAP4: view

Transcripts for TFAP4 Gene

Unigene Clusters for TFAP4 Gene

Transcription factor AP-4 (activating enhancer binding protein 4):
Representative Sequences:

Clone Products

  • Addgene plasmids for TFAP4

Alternative Splicing Database (ASD) splice patterns (SP) for TFAP4 Gene

No ASD Table

Relevant External Links for TFAP4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TFAP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TFAP4 Gene

Protein differential expression in normal tissues from HIPED for TFAP4 Gene

This gene is overexpressed in CD8 Tcells (24.8), Pancreas (20.7), Blymphocyte (11.4), and Ovary (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TFAP4 Gene

Protein tissue co-expression partners for TFAP4 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TFAP4 Gene:


SOURCE GeneReport for Unigene cluster for TFAP4 Gene:


Evidence on tissue expression from TISSUES for TFAP4 Gene

  • Nervous system(4.1)
genes like me logo Genes that share expression patterns with TFAP4: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for TFAP4 Gene

Orthologs for TFAP4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TFAP4 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TFAP4 33 34
  • 97.93 (n)
(Canis familiaris)
Mammalia TFAP4 33 34
  • 93.87 (n)
(Bos Taurus)
Mammalia TFAP4 33 34
  • 93.83 (n)
(Monodelphis domestica)
Mammalia TFAP4 34
  • 93 (a)
(Mus musculus)
Mammalia Tfap4 33 16 34
  • 91.12 (n)
(Rattus norvegicus)
Mammalia Tfap4 33
  • 90.83 (n)
(Ornithorhynchus anatinus)
Mammalia TFAP4 34
  • 79 (a)
(Gallus gallus)
Aves TFAP4 33 34
  • 85.5 (n)
(Anolis carolinensis)
Reptilia TFAP4 34
  • 79 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tfap4 33
  • 73.13 (n)
(Danio rerio)
Actinopterygii tfap4 33 34
  • 75.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta crp 34
  • 20 (a)
(Caenorhabditis elegans)
Secernentea hlh-11 34
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2164 34
  • 20 (a)
Species where no ortholog for TFAP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TFAP4 Gene

Gene Tree for TFAP4 (if available)
Gene Tree for TFAP4 (if available)

Paralogs for TFAP4 Gene

(1) SIMAP similar genes for TFAP4 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with TFAP4: view

No data available for Paralogs for TFAP4 Gene

Variants for TFAP4 Gene

Sequence variations from dbSNP and Humsavar for TFAP4 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000191770 -- 4,274,039(-) G/C upstream_transcript_variant
rs1000363655 -- 4,263,705(-) G/C intron_variant
rs1000416546 -- 4,269,310(-) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000696021 -- 4,264,804(-) C/G intron_variant
rs1000893653 -- 4,258,949(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TFAP4 Gene

Variant ID Type Subtype PubMed ID
dgv1290n106 CNV deletion 24896259
esv21490 CNV gain+loss 19812545
nsv1046986 CNV gain 25217958
nsv1070316 CNV deletion 25765185
nsv527866 CNV loss 19592680
nsv827529 CNV gain 20364138

Variation tolerance for TFAP4 Gene

Residual Variation Intolerance Score: 28.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.89; 48.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TFAP4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TFAP4 Gene

Disorders for TFAP4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TFAP4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
spinocerebellar ataxia 12
  • sca12
- elite association - COSMIC cancer census association via MalaCards
Search TFAP4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TFAP4

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TFAP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TFAP4 Gene

Publications for TFAP4 Gene

  1. Transcription factor AP-4 contains multiple dimerization domains that regulate dimer specificity. (PMID: 2123466) Hu YF … Tjian R (Genes & development 1990) 2 3 4 22 58
  2. Role of flanking E box motifs in human immunodeficiency virus type 1 TATA element function. (PMID: 7933101) Ou SH … Gaynor RB (Journal of virology 1994) 3 4 22 58
  3. Complementary quantitative proteomics reveals that transcription factor AP-4 mediates E-box-dependent complex formation for transcriptional repression of HDM2. (PMID: 19505873) Ku WC … Chen YJ (Molecular & cellular proteomics : MCP 2009) 3 22 58
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for TFAP4 Gene

  • Addgene plasmids for TFAP4

Sources for TFAP4 Gene

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