CHMP7 (charged multivesicular body protein 7)

2014-11-01  

Identity

HGNC
CHMP7
LOCATION
8p21.3
LOCUSID
91782
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 91782
MIM: 611130
HGNC: 28439
Ensembl: ENSG00000147457

Variants:

dbSNP: 91782
ClinVar: 91782
TCGA: ENSG00000147457
COSMIC: CHMP7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000147457ENST00000313219Q8WUX9
ENSG00000147457ENST00000397677Q8WUX9
ENSG00000147457ENST00000517325E5RFR8
ENSG00000147457ENST00000519414E5RJI3
ENSG00000147457ENST00000519503Q8WUX9
ENSG00000147457ENST00000519984E5RIU9

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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
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
376393272024SUN1 facilitates CHMP7 nuclear influx and injury cascades in sporadic amyotrophic lateral sclerosis.5
376393272024SUN1 facilitates CHMP7 nuclear influx and injury cascades in sporadic amyotrophic lateral sclerosis.5
359621862023Oligomeric CHMP7 mediates three-way ER junctions and ER-mitochondria interactions.1
359621862023Oligomeric CHMP7 mediates three-way ER junctions and ER-mitochondria interactions.1
342866942021CDK1 controls CHMP7-dependent nuclear envelope reformation.18
343213182021Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS.50
342866942021CDK1 controls CHMP7-dependent nuclear envelope reformation.18
343213182021Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS.50
322718602020Regulated lipid synthesis and LEM2/CHMP7 jointly control nuclear envelope closure.35
331590452020Functional validation of CHMP7 as an ADHD risk gene.6
322718602020Regulated lipid synthesis and LEM2/CHMP7 jointly control nuclear envelope closure.35
331590452020Functional validation of CHMP7 as an ADHD risk gene.6
308375662019Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy.21
308375662019Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy.21
282426922017LEM2 recruits CHMP7 for ESCRT-mediated nuclear envelope closure in fission yeast and human cells.91

Citation

Dessen P

CHMP7 (charged multivesicular body protein 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/61808/chmp7-(charged-multivesicular-body-protein-7)