WDR81 (WD repeat domain 81)

2017-11-01  

Identity

HGNC
LOCATION
17p13.3
LOCUSID
ALIAS
CAMRQ2,HYC3,PPP1R166,SORF-2

Other Information

Locus ID:

NCBI: 124997
MIM: 614218
HGNC: 26600
Ensembl: ENSG00000167716

Variants:

dbSNP: 124997
ClinVar: 124997
TCGA: ENSG00000167716
COSMIC: WDR81

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167716ENST00000309182Q562E7
ENSG00000167716ENST00000409644Q562E7
ENSG00000167716ENST00000418841C9JD20
ENSG00000167716ENST00000419248Q562E7
ENSG00000167716ENST00000437219Q562E7
ENSG00000167716ENST00000446363E9PDG3
ENSG00000167716ENST00000455636C9JCF9
ENSG00000167716ENST00000468539I3L3U7
ENSG00000167716ENST00000474958K7ELV8
ENSG00000167716ENST00000575206I3L1G2

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
339548572021WDR81 Gene Silencing Can Reduce Exosome Levels in Human U87-MG Glioblastoma Cells.0
343389172021Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.0
339548572021WDR81 Gene Silencing Can Reduce Exosome Levels in Human U87-MG Glioblastoma Cells.0
343389172021Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.0
284046432017The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy.30
285564112017The genetic landscape of familial congenital hydrocephalus.53
289693872017WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.13
284046432017The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy.30
285564112017The genetic landscape of familial congenital hydrocephalus.53
289693872017WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.13
264378812016Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.6
271269892016A Genetic Screen Identifies a Critical Role for the WDR81-WDR91 Complex in the Trafficking and Degradation of Tetherin.16
264378812016Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.6
271269892016A Genetic Screen Identifies a Critical Role for the WDR81-WDR91 Complex in the Trafficking and Degradation of Tetherin.16
226865582012Neuro-ophthalmologic findings in humans with quadrupedal locomotion.9

Citation

Dessen P

WDR81 (WD repeat domain 81)

Atlas Genet Cytogenet Oncol Haematol. 2017-11-01

Online version: http://atlasgeneticsoncology.org/gene/57243/wdr81-(wd-repeat-domain-81)