Gene Gene information from NCBI Gene database.
Entrez ID 80067
Gene name DDB1 and CUL4 associated factor 17
Gene symbol DCAF17
Synonyms (NCBI Gene)
C20orf37C2orf37
Chromosome 2
Chromosome location 2q31.1
Summary 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 transcrip
SNPs SNP information provided by dbSNP.
13
SNP ID Visualize variation Clinical significance Consequence
rs192861143 C>T Likely-pathogenic, benign Intron variant
rs201494527 C>- Likely-pathogenic Intron variant
rs760978794 C>A,T Pathogenic Missense variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant, stop gained
rs761229686 G>A Pathogenic Coding sequence variant, stop gained, non coding transcript variant, missense variant
rs780493577 A>C,G Likely-pathogenic Splice acceptor variant, genic downstream transcript variant, intron variant
miRNA miRNA information provided by mirtarbase database.
528
miRTarBase ID miRNA Experiments Reference
MIRT025686 hsa-miR-7-5p Microarray 19073608
MIRT713506 hsa-miR-5580-3p HITS-CLIP 19536157
MIRT713505 hsa-miR-126-5p HITS-CLIP 19536157
MIRT713504 hsa-miR-3124-3p HITS-CLIP 19536157
MIRT713503 hsa-miR-6792-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000902 Process Cell morphogenesis IEA
GO:0001675 Process Acrosome assembly IEA
GO:0005515 Function Protein binding IPI 16949367
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
612515 25784 ENSG00000115827
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5H9S7
Protein name DDB1- and CUL4-associated factor 17
Protein function May function as a substrate receptor for CUL4-DDB1 E3 ubiquitin-protein ligase complex.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15802 DCAF17 31 505 DDB1- and CUL4-associated factor 17 Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:19026396}.
Sequence
Sequence length 520
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Neddylation
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
10
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)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
DCAF17-related disorder Pathogenic rs797045038 RCV004757156
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodegeneration with brain iron accumulation Likely pathogenic; Pathogenic rs778488574, rs2529687764 RCV003317582
RCV003155745
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Papillary renal cell carcinoma type 1 Likely pathogenic rs748029308 RCV005937374
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Woodhouse-Sakati syndrome Pathogenic; Likely pathogenic rs1235902967, rs2105706833, rs1559245286, rs1314048356, rs1559289651, rs778488574, rs2529807772, rs797045038, rs879253799, rs863224865, rs2529781949, rs1279603411, rs2529656673, rs2529700694, rs1410964899
View all (27 more)
RCV001381851
RCV001942024
RCV000000561
RCV000000562
RCV000000563
View all (39 more)
★★★★★
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
Cervical cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Benign ClinVar
★★☆☆☆
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
Alopecia Alopecia LHGDN 19026396
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia CLINVAR_DG 26612766
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only
Basal Ganglia Diseases Basal ganglia disease Pubtator 19026396, 35002959 Associate
★☆☆☆☆
Found in Text Mining only
Cataract Cataract Pubtator 37706616 Associate
★☆☆☆☆
Found in Text Mining only
Choreoathetosis Choreoathetosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Congenital hypotrichia Congenital Hypotrichia BEFREE 24015686
★☆☆☆☆
Found in Text Mining only
Developmental absence of tooth Anodontia HPO_DG
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes Mellitus LHGDN 19026396
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Diabetes mellitus Pubtator 19026396, 35002959, 37706616 Associate
★☆☆☆☆
Found in Text Mining only