ATP5MC2 (ATP synthase membrane subunit c locus 2)

2018-11-01  

Identity

HGNC
ATP5MC2
LOCATION
12q13.13
LOCUSID
517
ALIAS
ATP5A,ATP5G2

Other Information

Locus ID:

NCBI: 517
MIM: 603193
HGNC: 842
Ensembl: ENSG00000135390

Variants:

dbSNP: 517
ClinVar: 517
TCGA: ENSG00000135390
COSMIC: ATP5MC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135390ENST00000338662Q06055
ENSG00000135390ENST00000394349Q06055
ENSG00000135390ENST00000549164Q06055
ENSG00000135390ENST00000549748F8W041
ENSG00000135390ENST00000552242Q06055

Pathways

PathwaySourceExternal ID
Oxidative phosphorylationKEGGko00190
Alzheimer's diseaseKEGGko05010
Huntington's diseaseKEGGko05016
Oxidative phosphorylationKEGGhsa00190
Alzheimer's diseaseKEGGhsa05010
Parkinson's diseaseKEGGhsa05012
Huntington's diseaseKEGGhsa05016
Metabolic pathwaysKEGGhsa01100
F-type ATPase, eukaryotesKEGGhsa_M00158
F-type ATPase, eukaryotesKEGGM00158
MetabolismREACTOMER-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transportREACTOMER-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.REACTOMER-HSA-163200
Formation of ATP by chemiosmotic couplingREACTOMER-HSA-163210

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
282892292017Persistence of the mitochondrial permeability transition in the absence of subunit c of human ATP synthase.129
282892292017Persistence of the mitochondrial permeability transition in the absence of subunit c of human ATP synthase.129
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.20
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.22
190645712008Polymorphisms in mitochondrial genes and prostate cancer risk.22

Citation

Dessen P

ATP5MC2 (ATP synthase membrane subunit c locus 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/80329/atp5mc2-(atp-synthase-membrane-subunit-c-locus-2)