WDR81 (WD repeat domain 81)

2017-11-01  

Identity

HGNC
WDR81
LOCATION
17p13.3
LOCUSID
124997
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
N/A

References

Pubmed IDYearTitleCitations
284046432017The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy.13
285564112017The genetic landscape of familial congenital hydrocephalus.13
226865582012Neuro-ophthalmologic findings in humans with quadrupedal locomotion.6
271269892016A Genetic Screen Identifies a Critical Role for the WDR81-WDR91 Complex in the Trafficking and Degradation of Tetherin.4
264378812016Clinical and molecular delineation of dysequilibrium syndrome type 2 and profound sensorineural hearing loss in an inbred Arab family.2
289693872017WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.2

Citation

Dessen P

WDR81 (WD repeat domain 81)

Atlas Genet Cytogenet Oncol Haematol. 2017-11-01

Online version: http://atlasgeneticsoncology.org/gene/57243/wdr81