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Aliases for DCAF17 Gene

Aliases for DCAF17 Gene

  • DDB1 And CUL4 Associated Factor 17 2 3 5
  • C2orf37 3 4
  • DDB1- And CUL4-Associated Factor 17 3
  • Chromosome 2 Open Reading Frame 37 2
  • Woodhouse-Sakati Syndrome 2
  • C20orf37 3

External Ids for DCAF17 Gene

Previous HGNC Symbols for DCAF17 Gene

  • C2orf37

Previous GeneCards Identifiers for DCAF17 Gene

  • GC02P171999
  • GC02P172290
  • GC02P164177

Summaries for DCAF17 Gene

Entrez Gene Summary for DCAF17 Gene

  • This gene encodes a nuclear transmembrane protein that associates with cullin 4A/damaged DNA binding protein 1 ubiquitin ligase complex. Mutations in this gene are associated with Woodhouse-Sakati syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

GeneCards Summary for DCAF17 Gene

DCAF17 (DDB1 And CUL4 Associated Factor 17) is a Protein Coding gene. Diseases associated with DCAF17 include Woodhouse-Sakati Syndrome and Sakati Syndrome.

UniProtKB/Swiss-Prot for DCAF17 Gene

  • May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.

Gene Wiki entry for DCAF17 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DCAF17 Gene

Genomics for DCAF17 Gene

Regulatory Elements for DCAF17 Gene

Enhancers for DCAF17 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G172246 1.9 FANTOM5 Ensembl ENCODE dbSUPER 24.5 +816.7 816731 8.9 PKNOX1 FOXA2 SIN3A ZNF766 ZNF416 FOS ZNF263 JUNB REST KAT8 DCAF17 ITGA6 DAP3P2 ENSG00000226963 HAT1 GC02M172117 ENSG00000232555
GH02G172092 3.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 13.9 +664.0 664008 10.5 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF263 SP3 NFYC DAP3P2 DCAF17 DLX2 HAT1 ENSG00000232788 ITGA6 DLX1 DYNC1I2 GC02P172093
GH02G170501 2.1 Ensembl ENCODE 21.5 -929.8 -929836 4.8 FOXA2 ZFP64 GATA2 FOS ZNF202 ZNF680 ZNF654 ZBTB11 OVOL3 ZNF426 DCAF17 DAP3P2 GORASP2 PHOSPHO2 EIF2S2P4 LOC101929753 SP5 MYO3B GC02P170510 GC02P170458
GH02G170713 2.6 Ensembl ENCODE dbSUPER 13.9 -718.7 -718732 4.7 HDGF HNRNPUL1 PKNOX1 FOXA2 CREB3L1 ARID4B DMAP1 ZNF766 CBX5 ZNF207 LOC101926913 DCAF17 GAD1 SP5 EIF2S2P4
GH02G170820 0.8 ENCODE 33.5 -613.8 -613848 0.2 RING1 SUZ12 ZFP64 ZNF140 MAX ZNF101 ZNF697 EZH2 ZNF680 RNF2 DCAF17 DAP3P2 GORASP2 GAD1 EIF2S2P4 RPS15P4 ENSG00000235934 GC02M170820
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around DCAF17 on UCSC Golden Path with GeneCards custom track

Promoters for DCAF17 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000126196 127 2201 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF263 SP3

Genomic Location for DCAF17 Gene

171,434,173 bp from pter
171,491,027 bp from pter
56,855 bases
Plus strand

Genomic View for DCAF17 Gene

Genes around DCAF17 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCAF17 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCAF17 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCAF17 Gene

Proteins for DCAF17 Gene

  • Protein details for DCAF17 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    DDB1- and CUL4-associated factor 17
    Protein Accession:
    Secondary Accessions:
    • B2RTW5
    • Q53TN3
    • Q9H908

    Protein attributes for DCAF17 Gene

    520 amino acids
    Molecular mass:
    58778 Da
    Quaternary structure:
    • Interacts with DDB1, CUL4A and CUL4B.

    Alternative splice isoforms for DCAF17 Gene


neXtProt entry for DCAF17 Gene

Post-translational modifications for DCAF17 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DCAF17 Gene

Domains & Families for DCAF17 Gene

Gene Families for DCAF17 Gene

Protein Domains for DCAF17 Gene

Suggested Antigen Peptide Sequences for DCAF17 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with DCAF17: view

No data available for UniProtKB/Swiss-Prot for DCAF17 Gene

Function for DCAF17 Gene

Molecular function for DCAF17 Gene

UniProtKB/Swiss-Prot Function:
May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
genes like me logo Genes that share phenotypes with DCAF17: view

Human Phenotype Ontology for DCAF17 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for DCAF17 Gene

Localization for DCAF17 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCAF17 Gene

Membrane; Multi-pass membrane protein. Nucleus, nucleolus. Note=According to PubMed:19026396, it is a nucleolar protein, while sequence analysis programs clearly predict 2 transmembrane regions.

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 DCAF17 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for DCAF17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS,IDA --
GO:0005730 nucleolus IEA --
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DCAF17: view

Pathways & Interactions for DCAF17 Gene

SuperPathways for DCAF17 Gene

No Data Available

UniProtKB/Swiss-Prot Q5H9S7-DCA17_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for DCAF17 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA,IC --
GO:0043687 post-translational protein modification TAS --
genes like me logo Genes that share ontologies with DCAF17: view

No data available for Pathways by source and SIGNOR curated interactions for DCAF17 Gene

Drugs & Compounds for DCAF17 Gene

No Compound Related Data Available

Transcripts for DCAF17 Gene

Unigene Clusters for DCAF17 Gene

DDB1 and CUL4 associated factor 17:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for DCAF17 Gene

No ASD Table

Relevant External Links for DCAF17 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for DCAF17 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for DCAF17 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for DCAF17 Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for DCAF17 Gene

Protein tissue co-expression partners for DCAF17 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of DCAF17 Gene:


SOURCE GeneReport for Unigene cluster for DCAF17 Gene:


mRNA Expression by UniProt/SwissProt for DCAF17 Gene:

Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for DCAF17 Gene

  • Nervous system(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DCAF17 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • ear
  • eye
  • head
  • hypothalamus
  • neck
  • pituitary gland
  • thyroid
  • breast
  • heart
  • heart valve
  • duodenum
  • intestine
  • kidney
  • liver
  • pancreas
  • small intestine
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with DCAF17: view

Primer Products

No data available for mRNA differential expression in normal tissues for DCAF17 Gene

Orthologs for DCAF17 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DCAF17 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia DCAF17 34 35
  • 99.68 (n)
(Canis familiaris)
Mammalia DCAF17 34 35
  • 93.9 (n)
(Mus musculus)
Mammalia Dcaf17 34 16 35
  • 89.64 (n)
(Rattus norvegicus)
Mammalia Dcaf17 34
  • 89.43 (n)
(Bos Taurus)
Mammalia DCAF17 34 35
  • 88.84 (n)
(Monodelphis domestica)
Mammalia DCAF17 35
  • 83 (a)
(Ornithorhynchus anatinus)
Mammalia DCAF17 35
  • 82 (a)
(Gallus gallus)
Aves DCAF17 34 35
  • 74.4 (n)
(Anolis carolinensis)
Reptilia DCAF17 35
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia dcaf17 34
  • 66.87 (n)
(Danio rerio)
Actinopterygii dcaf17 34 35
  • 59.27 (n)
Species where no ortholog for DCAF17 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)
  • fruit fly (Drosophila melanogaster)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for DCAF17 Gene

Gene Tree for DCAF17 (if available)
Gene Tree for DCAF17 (if available)

Paralogs for DCAF17 Gene

genes like me logo Genes that share paralogs with DCAF17: view

No data available for Paralogs for DCAF17 Gene

Variants for DCAF17 Gene

Sequence variations from dbSNP and Humsavar for DCAF17 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs797045038 Pathogenic 171,448,795(+) TATAT(-/C)TTGCA nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime
rs863224865 Pathogenic 171,443,581(+) AAAAA(-/A)TAGAG nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime
rs879253799 Pathogenic 171,443,562(+) CCAAA(-/A)TGTTC nc-transcript-variant, reference, frameshift-variant, utr-variant-5-prime
rs192861143 Likely pathogenic 171,448,667(+) TCTCT(C/T)TTTTT intron-variant
rs201494527 Likely pathogenic 171,448,667(+) TCTCT(-/C)TTTTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DCAF17 Gene

Variant ID Type Subtype PubMed ID
esv3437307 CNV insertion 20981092
nsv1131528 CNV deletion 24896259
nsv961530 CNV duplication 23825009

Variation tolerance for DCAF17 Gene

Residual Variation Intolerance Score: 22.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.25; 52.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DCAF17 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCAF17 Gene

Disorders for DCAF17 Gene

MalaCards: The human disease database

(8) MalaCards diseases for DCAF17 Gene - From: OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • Woodhouse-Sakati syndrome (WoSaS) [MIM:241080]: Rare autosomal recessive disorder characterized by hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. {ECO:0000269 PubMed:19026396}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for DCAF17

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with DCAF17: view

No data available for Genatlas for DCAF17 Gene

Publications for DCAF17 Gene

  1. A family of diverse Cul4-Ddb1-interacting proteins includes Cdt2, which is required for S phase destruction of the replication factor Cdt1. (PMID: 16949367) Jin J. … Walter J.C. (Mol. Cell 2006) 2 3 4 64
  2. Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome. (PMID: 19026396) Alazami A.M. … Alkuraya F.S. (Am. J. Hum. Genet. 2008) 3 4 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
  5. Novel compound heterozygous frameshift mutations of C2orf37 in a familial Indian case of Woodhouse-Sakati syndrome. (PMID: 26440089) Abdulla M.C. … Musambil M. (J. Genet. 2015) 3 64

Products for DCAF17 Gene

Sources for DCAF17 Gene

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