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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
499
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
DCAF17-related disorder Pathogenic rs797045038 RCV004757156
Neurodegeneration with brain iron accumulation Likely pathogenic; Pathogenic rs778488574, rs2529687764 RCV003317582
RCV003155745
Papillary renal cell carcinoma type 1 Likely pathogenic rs748029308 RCV005937374
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
RCV002226958
RCV002814779
RCV000191077
RCV000236394
RCV000196292
RCV003495416
RCV003496849
RCV003496330
RCV003496269
RCV003494620
RCV003494658
RCV003495654
RCV003496764
RCV003496775
RCV003598296
RCV003599193
RCV003599306
RCV003599102
RCV003599190
RCV003599559
RCV003599749
RCV003597542
RCV003597582
RCV003598799
RCV003817395
RCV003871597
RCV004515809
RCV003985996
RCV003988784
RCV004527519
RCV000024286
RCV000024287
RCV000024288
RCV000024289
RCV000693279
RCV000706435
RCV000856564
RCV000991368
RCV001230903
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign rs146556466 RCV005895977
Cholangiocarcinoma Benign rs3731982 RCV005919823
Gastric cancer Benign; Likely benign rs146556466, rs372539451 RCV005895978
RCV005871246
Ovarian serous cystadenocarcinoma Benign rs73976168 RCV005895979
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alopecia Associate 19026396, 37706616
Basal Ganglia Diseases Associate 19026396, 35002959
Cataract Associate 37706616
Conversion Disorder Associate 35002959
Diabetes Mellitus Associate 19026396, 35002959, 37706616
Dystonia Associate 37706616
Hemoptysis Associate 37706616
Hypogonadism Associate 19026396, 34877714, 37706616
Idiopathic Hypogonadotropic Hypogonadism Associate 33208564
Intellectual Disability Associate 19026396