WDR73 (WD repeat domain 73)

2016-10-01  

Identity

HGNC
WDR73
LOCATION
15q25.2
LOCUSID
84942
ALIAS
GAMOS,GAMOS1,HSPC264
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 84942
MIM: 616144
HGNC: 25928
Ensembl: ENSG00000177082

Variants:

dbSNP: 84942
ClinVar: 84942
TCGA: ENSG00000177082
COSMIC: WDR73

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000177082ENST00000434634Q6P4I2
ENSG00000177082ENST00000558521H0YMT3
ENSG00000177082ENST00000559178H0YLH0
ENSG00000177082ENST00000559224H0YMX2

Expression (GTEx)

0
5
10
15
20
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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
254662832014Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.32
260709822015Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.20
261237272015WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.14
258737352015Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome.8
279839992017WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family.3
299294882018Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.2
303159382019WDR73-related galloway mowat syndrome with collapsing glomerulopathy.0

Citation

Dessen P

WDR73 (WD repeat domain 73)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56338/wdr73