WASHC4 (WASH complex subunit 4)

2016-11-01  

Identity

HGNC
LOCATION
12q23.3
LOCUSID
ALIAS
KIAA1033,MRT43,SWIP

Other Information

Locus ID:

NCBI: 23325
MIM: 615748
HGNC: 29174
Ensembl: ENSG00000136051

Variants:

dbSNP: 23325
ClinVar: 23325
TCGA: ENSG00000136051
COSMIC: WASHC4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136051ENST00000332180Q2M389
ENSG00000136051ENST00000547404R4GMM5
ENSG00000136051ENST00000548195F8VQX3
ENSG00000136051ENST00000550053F8VYH7
ENSG00000136051ENST00000551224F8W1W1
ENSG00000136051ENST00000552203F8VNZ5
ENSG00000136051ENST00000620430A0A087X256

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
369950082023SWIP mediates retromer-independent membrane recruitment of the WASH complex.3
369950082023SWIP mediates retromer-independent membrane recruitment of the WASH complex.3
337495902021Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans.26
337495902021Genetic disruption of WASHC4 drives endo-lysosomal dysfunction and cognitive-movement impairments in mice and humans.26
319539882020Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.6
319539882020Novel KIAA1033/WASHC4 mutations in three patients with syndromic intellectual disability and a review of the literature.6
226731152012Identification of Alzheimer disease-associated variants in genes that regulate retromer function.97
226731152012Identification of Alzheimer disease-associated variants in genes that regulate retromer function.97
214984772011Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.40
214984772011Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.40
203762072010The ulcerative colitis marker protein WAFL interacts with accessory proteins in endocytosis.7
203762072010The ulcerative colitis marker protein WAFL interacts with accessory proteins in endocytosis.7

Citation

Dessen P

WASHC4 (WASH complex subunit 4)

Atlas Genet Cytogenet Oncol Haematol. 2016-11-01

Online version: http://atlasgeneticsoncology.org/gene/78782/washc4-(wash-complex-subunit-4)