CHMP4C (charged multivesicular body protein 4C)

2013-06-01  

Identity

HGNC
CHMP4C
LOCATION
8q21.13
LOCUSID
92421
ALIAS
SNF7-3,Shax3,VPS32C

Other Information

Locus ID:

NCBI: 92421
MIM: 610899
HGNC: 30599
Ensembl: ENSG00000164695

Variants:

dbSNP: 92421
ClinVar: 92421
TCGA: ENSG00000164695
COSMIC: CHMP4C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164695ENST00000297265Q96CF2

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
ESCRT-III complexKEGGhsa_M00412
ESCRT-III complexKEGGM00412
DiseaseREACTOMER-HSA-1643685
Infectious diseaseREACTOMER-HSA-5663205
HIV InfectionREACTOMER-HSA-162906
HIV Life CycleREACTOMER-HSA-162587
Late Phase of HIV Life CycleREACTOMER-HSA-162599
Budding and maturation of HIV virionREACTOMER-HSA-162588
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Endosomal Sorting Complex Required For Transport (ESCRT)REACTOMER-HSA-917729
Cellular responses to stressREACTOMER-HSA-2262752
MacroautophagyREACTOMER-HSA-1632852

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
235357302013GWAS meta-analysis and replication identifies three new susceptibility loci for ovarian cancer.176
224228612012ESCRT-III governs the Aurora B-mediated abscission checkpoint through CHMP4C.100
185115622008ALIX-CHMP4 interactions in the human ESCRT pathway.91
227240692012The chromosomal passenger complex controls the function of endosomal sorting complex required for transport-III Snf7 proteins during cytokinesis.45
269294492016ALIX and ESCRT-I/II function as parallel ESCRT-III recruiters in cytokinetic abscission.33
277847892016Coordinated regulation of the ESCRT-III component CHMP4C by the chromosomal passenger complex and centralspindlin during cytokinesis.11
301812942018A cancer-associated polymorphism in ESCRT-III disrupts the abscission checkpoint and promotes genome instability.6
293622252018The ESCRT protein Chmp4c regulates mitotic spindle checkpoint signaling.5
267127412015CHMP4C Disruption Sensitizes the Human Lung Cancer Cells to Irradiation.4
299681902018Chmp4c is required for stable kinetochore-microtubule attachments.1

Citation

Dessen P

CHMP4C (charged multivesicular body protein 4C)

Atlas Genet Cytogenet Oncol Haematol. 2013-06-01

Online version: http://atlasgeneticsoncology.org/gene/53354/chmp4c-(charged-multivesicular-body-protein-4c)