WASHC5 (WASH complex subunit 5)

2007-02-01  

Identity

HGNC
WASHC5
LOCATION
8q24.13
LOCUSID
9897
ALIAS
KIAA0196,RTSC,RTSC1,SPG8

Other Information

Locus ID:

NCBI: 9897
MIM: 610657
HGNC: 28984
Ensembl: ENSG00000164961

Variants:

dbSNP: 9897
ClinVar: 9897
TCGA: ENSG00000164961
COSMIC: WASHC5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164961ENST00000318410Q12768
ENSG00000164961ENST00000517845E7EQI7
ENSG00000164961ENST00000523297E5RFU6

Expression (GTEx)

0
10
20
30
40
50
60
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

Pathways

PathwaySourceExternal ID
EndocytosisKEGGko04144
EndocytosisKEGGhsa04144

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
vagina
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
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
171609022007Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.57
269656512016CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.32
208336452010Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.25
230854912013The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function.25
240653552013A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.19
146034362004RAD21 and KIAA0196 at 8q24 are amplified and overexpressed in prostate cancer.17
234559312013Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.14
238811052013Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.8
203762072010The ulcerative colitis marker protein WAFL interacts with accessory proteins in endocytosis.5

Citation

Dessen P

WASHC5 (WASH complex subunit 5)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45902/washc5