DCAF17 (DDB1 and CUL4 associated factor 17)

2014-11-01  

Identity

HGNC
LOCATION
2q31.1
LOCUSID
ALIAS
C20orf37,C2orf37

Other Information

Locus ID:

NCBI: 80067
MIM: 612515
HGNC: 25784
Ensembl: ENSG00000115827

Variants:

dbSNP: 80067
ClinVar: 80067
TCGA: ENSG00000115827
COSMIC: DCAF17

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115827ENST00000339506H0Y2X0
ENSG00000115827ENST00000375255Q5H9S7
ENSG00000115827ENST00000431110H7C244
ENSG00000115827ENST00000436317H7C1H3
ENSG00000115827ENST00000539783F5H7W1
ENSG00000115827ENST00000611110Q5H9S7

Expression (GTEx)

0
5
10
15
20

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
190263962008Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.20
234180712013The syndrome of deafness-dystonia: clinical and genetic heterogeneity.10
219649782011Phenotypic heterogeneity in Woodhouse-Sakati syndrome: two new families with a mutation in the C2orf37 gene.7
205073432010C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients.6
219634432011A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin.3
210440512010A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome.2
240156862014Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene.2
266127662016Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.2
291784222018Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.2
295744682018Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome.1

Citation

Dessen P

DCAF17 (DDB1 and CUL4 associated factor 17)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62317/dcaf17