• Gene id: 517

Gene Summary

• Gene Symbol: ATP5MC2   Gene   UCSC   Ensembl
• Aliases: ATP5A, ATP5G2
• Gene name: ATP synthase membrane subunit c locus 2
• Alternate names: ATP synthase F(0) complex subunit C2, mitochondrial, ATP synthase c subunit, ATP synthase lipid-binding protein, mitochondrial, ATP synthase proteolipid P2, ATP synthase proton-transporting mitochondrial F(0) complex subunit C2, ATP synthase, H+ transporting, ,
• Gene location: 12q13.13 (52529049: 52307282)     Exons: 43     NC_000015.10
• Gene summary(Entrez): This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two lin
• OMIM: 603193

SNPs

rs397515341

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000014.9   g.49633937_49633952dup
NC_000014.8   g.50100655_50100670dup
NG_013070.1   g.6280_6295dup
NM_018139.2   c.1199_1214dup
NM_001083908.1   c.1199_1214dup
NP_060609.2   p.Gly406fs
NP_001077377.1   p.Gly406fs|SEQ=[GCCACGCAGGTATCGTG/GCCACGCAGGTATCGTGCCACGCA

rs137853191

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.49635127G>A
NC_000014.9   g.49635127G>C
NC_000014.9   g.49635127G>T
NC_000014.8   g.50101845G>A
NC_000014.8   g.50101845G>C
NC_000014.8   g.50101845G>T
NG_013070.1   g.5104C>T
NG_013070.1   g.5104C>G
NG_013070.1   g.5104C>A
NM_018139.2   c.23C>T
NM_01813  

rs11135484

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96886185A>G
NC_000005.9   g.96221889A>G
NG_027839.2   g.54799T>C
NG_051092.1   g.15247A>G|SEQ=[A/G]|GENE=ERAP1
ERAP2   64167

rs11135482

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.96885722G>A
NC_000005.9   g.96221426G>A
NG_027839.2   g.55262C>T
NG_051092.1   g.14784G>A|SEQ=[G/A]|GENE=ERAP1
ERAP2   64167

rs3791185

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.107058247G>A
NC_000001.10   g.107600869G>A
NM_018137.2   c.*404G>A
NM_018137.3   c.*404G>A|SEQ=[G/A]|GENE=PRMT6

rs2232015

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.107056636A>G
NC_000001.11   g.107056636A>T
NC_000001.10   g.107599258A>G
NC_000001.10   g.107599258A>T|SEQ=[A/G/T]|GENE=PRMT6

rs2032278

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000018.10   g.77572081A>G
NC_000018.10   g.77572081A>T
NC_000018.9   g.75284037A>G
NC_000018.9   g.75284037A>T|SEQ=[A/G/T]|GENE=LOC107985172

Protein Summary

• Protein general information: Q06055  
  • Name: ATP synthase F(0) complex subunit C2, mitochondrial (ATP synthase lipid binding protein) (ATP synthase membrane subunit c locus 2) (ATP synthase proteolipid P2) (ATP synthase proton transporting mitochondrial F(0) complex subunit C2) (ATPase protein 9) (A
  • Length: 141  
  • Mass: 14637
• Sequence:

  MFACSKFVSTPSLVKSTSQLLSRPLSAVVLKRPEILTDESLSSLAVSCPLTSLVSSRSFQTSAISRDIDTAAKFI
  GAGAATVGVAGSGAGIGTVFGSLIIGYARNPSLKQQLFSYAILGFALSEAMGLFCLMVAFLILFAM

• Structural information:
  • Interpro: IPR000454  IPR020537  IPR038662  IPR002379  IPR035921  
  • Prosite: PS00605
  • STRING: ENSP00000377878
• Other Databases: GeneCards:  ATP5MC2  Malacards:  ATP5MC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000276	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	IBA	cellular component
GO:0045263	proton-transporting ATP synthase complex, coupling factor F(o)	IBA	cellular component
GO:0015986	ATP synthesis coupled proton transport	IBA	biological process
GO:0046933	proton-transporting ATP synthase activity, rotational mechanism	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0015986	ATP synthesis coupled proton transport	IEA	biological process
GO:1902600	proton transmembrane transport	IEA	biological process
GO:0015078	proton transmembrane transporter activity	IEA	molecular function
GO:0033177	proton-transporting two-sector ATPase complex, proton-transporting domain	IEA	cellular component
GO:0045263	proton-transporting ATP synthase complex, coupling factor F(o)	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0045263	proton-transporting ATP synthase complex, coupling factor F(o)	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0042407	cristae formation	TAS	biological process
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0006754	ATP biosynthetic process	TAS	biological process
GO:0042776	mitochondrial ATP synthesis coupled proton transport	TAS	biological process
GO:0031966	mitochondrial membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05010	Alzheimer disease
hsa05016	Huntington disease
hsa05012	Parkinson disease
hsa04714	Thermogenesis
hsa00190	Oxidative phosphorylation

Diseases

Associated diseases	References
urinary bladder cancer	PMID:26929985
renal cell carcinoma	PMID:21132003
clear cell renal cell carcinoma	PMID:28672194
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881