WASHC4 (WASH complex subunit 4)

2016-11-01  

Identity

HGNC
WASHC4
LOCATION
12q23.3
LOCUSID
23325
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
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
226731152012Identification of Alzheimer disease-associated variants in genes that regulate retromer function.63
214984772011Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.26
203762072010The ulcerative colitis marker protein WAFL interacts with accessory proteins in endocytosis.5

Citation

Dessen P

WASHC4 (WASH complex subunit 4)

Atlas Genet Cytogenet Oncol Haematol. 2016-11-01

Online version: http://atlasgeneticsoncology.org/gene/78782/washc4