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: 9897
MIM: 610657
HGNC: 28984
Ensembl: ENSG00000164961
Variants:
dbSNP: 9897
ClinVar: 9897
TCGA: ENSG00000164961
COSMIC: WASHC5
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000164961 | ENST00000318410 | Q12768 |
| ENSG00000164961 | ENST00000517845 | E7EQI7 |
| ENSG00000164961 | ENST00000523297 | E5RFU6 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Endocytosis | KEGG | ko04144 |
| Endocytosis | KEGG | hsa04144 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36130690 | 2022 | Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes. | 1 |
| 36130690 | 2022 | Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes. | 1 |
| 31814071 | 2020 | SPG8 mutations in Italian families: clinical data and literature review. | 3 |
| 31814071 | 2020 | SPG8 mutations in Italian families: clinical data and literature review. | 3 |
| 31055811 | 2019 | [Analysis of KIAA0196 gene mutation in a family with hereditary spastic paraplegia]. | 0 |
| 31055811 | 2019 | [Analysis of KIAA0196 gene mutation in a family with hereditary spastic paraplegia]. | 0 |
| 26965651 | 2016 | CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL. | 90 |
| 26967522 | 2016 | Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8. | 4 |
| 26965651 | 2016 | CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL. | 90 |
| 26967522 | 2016 | Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8. | 4 |
| 24824269 | 2014 | A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia. | 4 |
| 24824269 | 2014 | A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia. | 4 |
| 23085491 | 2013 | The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function. | 32 |
| 23455931 | 2013 | Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene. | 20 |
| 23881105 | 2013 | Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. | 10 |
Citation
Dessen P
WASHC5 (WASH complex subunit 5)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/45902/
