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
361306902022Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.1
361306902022Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.1
318140712020SPG8 mutations in Italian families: clinical data and literature review.3
318140712020SPG8 mutations in Italian families: clinical data and literature review.3
310558112019[Analysis of KIAA0196 gene mutation in a family with hereditary spastic paraplegia].0
310558112019[Analysis of KIAA0196 gene mutation in a family with hereditary spastic paraplegia].0
269656512016CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.90
269675222016Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8.4
269656512016CCC- and WASH-mediated endosomal sorting of LDLR is required for normal clearance of circulating LDL.90
269675222016Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8.4
248242692014A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia.4
248242692014A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia.4
230854912013The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function.32
234559312013Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.20
238811052013Exome 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/deep-insight-explorer/css/card-gene.css