ATP5MC2 (ATP synthase membrane subunit c locus 2)

2018-11-01 Affiliation

HGNC

ATP5MC2

LOCATION

12q13.13

LOCUSID

517

ALIAS

ATP5A,ATP5G2

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

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

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

Pathway	Source	External ID
Oxidative phosphorylation	KEGG	ko00190
Alzheimer's disease	KEGG	ko05010
Huntington's disease	KEGG	ko05016
Oxidative phosphorylation	KEGG	hsa00190
Alzheimer's disease	KEGG	hsa05010
Parkinson's disease	KEGG	hsa05012
Huntington's disease	KEGG	hsa05016
Metabolic pathways	KEGG	hsa01100
F-type ATPase, eukaryotes	KEGG	hsa_M00158
F-type ATPase, eukaryotes	KEGG	M00158
Metabolism	REACTOME	R-HSA-1430728
The citric acid (TCA) cycle and respiratory electron transport	REACTOME	R-HSA-1428517
Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.	REACTOME	R-HSA-163200
Formation of ATP by chemiosmotic coupling	REACTOME	R-HSA-163210

Not detected

Low

Medium

High

Pubmed ID	Year	Title	Citations
28289229	2017	Persistence of the mitochondrial permeability transition in the absence of subunit c of human ATP synthase.	129
28289229	2017	Persistence of the mitochondrial permeability transition in the absence of subunit c of human ATP synthase.	129
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	20
19064571	2008	Polymorphisms in mitochondrial genes and prostate cancer risk.	22
19064571	2008	Polymorphisms in mitochondrial genes and prostate cancer risk.	22

Dessen P

ATP5MC2 (ATP synthase membrane subunit c locus 2)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01