Identity
HGNC
LOCATION
15q25.2
LOCUSID
ALIAS
GAMOS,GAMOS1,HSPC264
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 84942
MIM: 616144
HGNC: 25928
Ensembl: ENSG00000177082
Variants:
dbSNP: 84942
ClinVar: 84942
TCGA: ENSG00000177082
COSMIC: WDR73
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000177082 | ENST00000434634 | Q6P4I2 |
| ENSG00000177082 | ENST00000558521 | H0YMT3 |
| ENSG00000177082 | ENST00000559178 | H0YLH0 |
| ENSG00000177082 | ENST00000559224 | H0YMX2 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33686175 | 2021 | Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations. | 9 |
| 33686175 | 2021 | Disruption of pathways regulated by Integrator complex in Galloway-Mowat syndrome due to WDR73 mutations. | 9 |
| 30315938 | 2019 | WDR73-related galloway mowat syndrome with collapsing glomerulopathy. | 4 |
| 30315938 | 2019 | WDR73-related galloway mowat syndrome with collapsing glomerulopathy. | 4 |
| 29929488 | 2018 | Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. | 6 |
| 29929488 | 2018 | Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings. | 6 |
| 27983999 | 2017 | WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. | 9 |
| 27983999 | 2017 | WDR73 missense mutation causes infantile onset intellectual disability and cerebellar hypoplasia in a consanguineous family. | 9 |
| 25873735 | 2015 | Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. | 20 |
| 26070982 | 2015 | Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. | 34 |
| 26123727 | 2015 | WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. | 28 |
| 25873735 | 2015 | Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome. | 20 |
| 26070982 | 2015 | Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73. | 34 |
| 26123727 | 2015 | WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. | 28 |
| 25466283 | 2014 | Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome. | 59 |
Citation
Dessen P
WDR73 (WD repeat domain 73)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56338/wdr73-(wd-repeat-domain-73)
