MPV17 (mitochondrial inner membrane protein MPV17)

2014-11-01  

Identity

HGNC
MPV17
LOCATION
2p23.3
LOCUSID
4358
ALIAS
CMT2EE,MTDPS6,SYM1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4358
MIM: 137960
HGNC: 7224
Ensembl: ENSG00000115204

Variants:

dbSNP: 4358
ClinVar: 4358
TCGA: ENSG00000115204
COSMIC: MPV17

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115204ENST00000233545P39210
ENSG00000115204ENST00000233545A0A0S2Z3Z9
ENSG00000115204ENST00000357186A8MPV4
ENSG00000115204ENST00000380044P39210
ENSG00000115204ENST00000380044A0A0S2Z3Z9
ENSG00000115204ENST00000399052A8MTD3
ENSG00000115204ENST00000402310B5MC53
ENSG00000115204ENST00000402722B5MC10
ENSG00000115204ENST00000403262B5MCF8
ENSG00000115204ENST00000405076G5E9F5
ENSG00000115204ENST00000405983E7EX18
ENSG00000115204ENST00000415514F8WEL3
ENSG00000115204ENST00000426513B5MC10
ENSG00000115204ENST00000428910C9J473
ENSG00000115204ENST00000430991H0Y6M5

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
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146

References

Pubmed IDYearTitleCitations
367530382023MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants.0
367530382023MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants.0
331158102022Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings.4
359190332022Comprehensive Analysis on the Specific Role and Function of Mitochondrial Inner Membrane Protein MPV17 in Liver Hepatocellular Carcinoma.1
361840882022[Genetic testing and prenatal diagnosis for a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to variant of MPV17 gene].0
331158102022Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings.4
359190332022Comprehensive Analysis on the Specific Role and Function of Mitochondrial Inner Membrane Protein MPV17 in Liver Hepatocellular Carcinoma.1
361840882022[Genetic testing and prenatal diagnosis for a Chinese pedigree affected with mitochondrial DNA depletion syndrome due to variant of MPV17 gene].0
341161242021NMR Structural and Biophysical Analysis of the Disease-Linked Inner Mitochondrial Membrane Protein MPV17.5
341161242021NMR Structural and Biophysical Analysis of the Disease-Linked Inner Mitochondrial Membrane Protein MPV17.5
321551882020MPV17 does not control cancer cell proliferation.3
321551882020MPV17 does not control cancer cell proliferation.3
302985992019MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.7
302985992019MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.7
293185722018Identification of a single MPV17 nonsense-associated altered splice variant in 24 South African infants with mitochondrial neurohepatopathy.6

Citation

Dessen P

MPV17 (mitochondrial inner membrane protein MPV17)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70398/tumors-explorer/js/lib/zoomerang.js