SNF8 (SNF8 subunit of ESCRT-II)

2014-08-01  

Identity

HGNC
SNF8
LOCATION
17q21.32
LOCUSID
11267
ALIAS
Dot3,EAP30,VPS22
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11267
MIM: 610904
HGNC: 17028
Ensembl: ENSG00000159210

Variants:

dbSNP: 11267
ClinVar: 11267
TCGA: ENSG00000159210
COSMIC: SNF8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000159210ENST00000290330Q96H20
ENSG00000159210ENST00000502492Q96H20
ENSG00000159210ENST00000507302D6RBI1
ENSG00000159210ENST00000509989K7EPV2
ENSG00000159210ENST00000509995H0Y8S5
ENSG00000159210ENST00000510558D6RFY6
ENSG00000159210ENST00000514929D6RJ86
ENSG00000159210ENST00000573795I3L457
ENSG00000159210ENST00000576353I3L2X5

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
ESCRT-II complexKEGGhsa_M00410
ESCRT-II complexKEGGM00410
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Endosomal Sorting Complex Required For Transport (ESCRT)REACTOMER-HSA-917729

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
169735522006Human ESCRT-II complex and its role in human immunodeficiency virus type 1 release.78
163713482006Degradation of endocytosed epidermal growth factor and virally ubiquitinated major histocompatibility complex class I is independent of mammalian ESCRTII.69
177144342007Vps22/EAP30 in ESCRT-II mediates endosomal sorting of growth factor and chemokine receptors destined for lysosomal degradation.49
252320112014Inhibition of ESCRT-II-CHMP6 interactions impedes cytokinetic abscission and leads to cell death.14
290842532017Pivotal role for the ESCRT-II complex subunit EAP30/SNF8 in IRF3-dependent innate antiviral defense.5
231710482012SNF8, a member of the ESCRT-II complex, interacts with TRPC6 and enhances its channel activity.2

Citation

Dessen P

SNF8 (SNF8 subunit of ESCRT-II)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54646/snf8