Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80067
Gene name Gene Name - the full gene name approved by the HGNC.
DDB1 and CUL4 associated factor 17
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DCAF17
Synonyms (NCBI Gene) Gene synonyms aliases
C20orf37, C2orf37
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q31.1
Summary Summary of gene provided in NCBI Entrez 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 transcrip
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16949367
GO:0005654 Component Nucleoplasm IDA
GO:0005654 Component Nucleoplasm TAS
GO:0005730 Component Nucleolus IEA
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612515 25784 ENSG00000115827
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Hyperinsulinism Hyperinsulinism rs387906407, rs151344623, rs121913156, rs137853245, rs80356655, rs104894010, rs104894012, rs104894014, rs104894015, rs137852676, rs587783169, rs72559716, rs541269678, rs151344624, rs797045209
View all (23 more)
Hyperlipidemia Hyperlipidemia rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs1566946168, rs1064797075
Associations from Text Mining
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