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])... See more...

Aliases for TFAP4 Gene

Aliases for TFAP4 Gene

  • Transcription Factor AP-4 2 3 4 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) 3
  • Transcription Factor AP-4 (Activating Enhancer-Binding Protein 4) 2
  • BHLHC41 4
  • 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 Retinitis Pigmentosa 58. Among its related pathways are Proteoglycans in cancer. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and protein heterodimerization activity. An important paralog of this gene is MLXIPL.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification 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
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J004270 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 502.3 +0.4 360 4.5 FOXK2 HNRNPK ZNF217 EP300 CTCF SIN3A NRF1 TCF12 MYC POLR2G TFAP4 RF00017-1944 lnc-TFAP4-1 ZNF500 ZNF75A CREBBP ZNF597 ANKS3 ENSG00000261938 ZNF174
GH16J004305 Promoter/Enhancer 2.3 EPDnew FANTOM5 ENCODE CraniofacialAtlas dbSUPER 500.3 -35.4 -35359 5.1 ZBTB40 ZNF217 EP300 CTCF NRF1 POLR2G SP1 PHF8 TEAD4 FOS lnc-TFAP4-3 TFAP4 LINC01569 CORO7 GLIS2
GH16J004263 Promoter/Enhancer 1.4 Ensembl ENCODE CraniofacialAtlas dbSUPER 0.4 +8.8 8823 2.1 NRF1 MYC MXI1 KLF9 SP2 MAX POLR2G KLF13 ZFHX2 CTCF LINC01569 TFAP4 lnc-TFAP4-1 piR-57460-233
GH16J004271 Enhancer 0.5 ENCODE dbSUPER 0.7 +2.7 2747 0 SCRT1 SCRT2 TFAP4 lnc-TFAP4-1 piR-57460-233
GH16J004257 Enhancer 0.8 Ensembl ENCODE dbSUPER 0.4 +15.0 14962 1.3 PRDM10 AGO2 ZNF770 ZNF600 CREBBP LINC01569 piR-57460-233 lnc-TFAP4-1 TFAP4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TFAP4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TFAP4

Top Transcription factor binding sites by QIAGEN in the TFAP4 gene promoter:
  • C/EBPalpha
  • CREB
  • deltaCREB
  • NF-1
  • NF-1/L
  • p53
  • TBP

Genomic Locations for TFAP4 Gene

Genomic Locations for TFAP4 Gene
chr16:4,257,186-4,273,075
(GRCh38/hg38)
Size:
15,890 bases
Orientation:
Minus strand
chr16:4,307,187-4,323,076
(GRCh37/hg19)
Size:
15,890 bases
Orientation:
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:
    Q01664-TFAP4_HUMAN
    Recommended name:
    Transcription factor AP-4
    Protein Accession:
    Q01664
    Secondary Accessions:
    • O60409

    Protein attributes for TFAP4 Gene

    Size:
    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 Lys189
  • 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

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

Protein Domains for TFAP4 Gene

Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TFAP4 Gene

GenScript: Design optimal peptide antigens:
  • TFAP4 protein (Q6FHM5_HUMAN)
  • Class C basic helix-loop-helix protein 41 (TFAP4_HUMAN)
genes like me logo Genes that share domains with TFAP4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for TFAP4 Gene

Function for TFAP4 Gene

Molecular function for TFAP4 Gene

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

Phenotypes From GWAS Catalog for TFAP4 Gene

Gene Ontology (GO) - Molecular Function for TFAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS,IDA 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA --
GO:0003677 DNA binding IDA,IEA 9931457
GO:0003700 DNA-binding transcription factor activity IBA 21873635
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:
  • Tfap4 Tfap4<tm1.1(KOMP)Vlcg>
  • Tfap4 Tfap4<tm1.1Litt>

Animal Model Products

CRISPR 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

COMPARTMENTS
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
plasma membrane 1
extracellular 1
cytoskeleton 1
cytosol 1
golgi apparatus 1

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:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IDA,IBA 7933101
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IDA --
GO:0017053 transcriptional repressor complex IEA,ISS --
genes like me logo Genes that share ontologies with TFAP4: view

Pathways & Interactions for TFAP4 Gene

PathCards logo

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

SIGNOR curated interactions for TFAP4 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for TFAP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription by RNA polymerase II IBA 21873635
GO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IDA 18818310
GO:0008285 negative regulation of cell proliferation IMP 18818310
GO:0010629 negative regulation of gene expression IEA --
GO:0043065 positive regulation of apoptotic process IDA 18818310
genes like me logo Genes that share ontologies with TFAP4: view

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

mRNA/cDNA for TFAP4 Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

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
TFAP4

Expression for TFAP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for TFAP4 Gene



Protein tissue co-expression partners for TFAP4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TFAP4

SOURCE GeneReport for Unigene cluster for TFAP4 Gene:

Hs.513305

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
chimpanzee
(Pan troglodytes)
Mammalia TFAP4 31 30
  • 97.93 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TFAP4 31 30
  • 93.87 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TFAP4 31 30
  • 93.83 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TFAP4 31
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tfap4 17 31 30
  • 91.12 (n)
rat
(Rattus norvegicus)
Mammalia Tfap4 30
  • 90.83 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TFAP4 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves TFAP4 31 30
  • 85.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TFAP4 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tfap4 30
  • 73.13 (n)
zebrafish
(Danio rerio)
Actinopterygii tfap4 31 30
  • 75.73 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta crp 31
  • 20 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea hlh-11 31
  • 22 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2164 31
  • 20 (a)
OneToOne
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

ENSEMBL:
Gene Tree for TFAP4 (if available)
TreeFam:
Gene Tree for TFAP4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TFAP4: view image

Paralogs for TFAP4 Gene

Paralogs for TFAP4 Gene

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

  • TFAP4_HUMAN
  • I3L254_HUMAN
  • I3L301_HUMAN
  • I3L4L6_HUMAN
  • Q6FHM5_HUMAN
genes like me logo Genes that share paralogs with TFAP4: view

Variants for TFAP4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TFAP4 Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
776972 Benign: not provided 4,260,462(-) C/T MISSENSE_VARIANT
rs251732 - p.Gln218His

Additional dbSNP identifiers (rs#s) for TFAP4 Gene

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
TFAP4

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
retinitis pigmentosa 58
  • rp58
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 23 54
  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 23 54
  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 23 54
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 54
  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 54

Products for TFAP4 Gene

Sources for TFAP4 Gene