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ATP5MC2 ATP synthase membrane subunit c locus 2 [ Homo sapiens (human) ]

Gene ID: 517, updated on 1-Aug-2020

Summary

Official Symbol
ATP5MC2provided by HGNC
Official Full Name
ATP synthase membrane subunit c locus 2provided by HGNC
Primary source
HGNC:HGNC:842
See related
Ensembl:ENSG00000135390 MIM:603193
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ATP5A; ATP5G2
Summary
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 linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. This gene has multiple pseudogenes. [provided by RefSeq, Jan 2018]
Expression
Ubiquitous expression in heart (RPKM 34.1), ovary (RPKM 32.8) and 25 other tissues See more
Orthologs

Genomic context

See ATP5MC2 in Genome Data Viewer
Location:
12q13.13
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (53665160..53677546, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (54058944..54070512, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATF7-NPFF readthrough Neighboring gene activating transcription factor 7 Neighboring gene zinc finger protein 337 pseudogene Neighboring gene ribosomal protein L31 pseudogene 51 Neighboring gene calcium binding and coiled-coil domain 1 Neighboring gene uncharacterized LOC105369774 Neighboring gene CALCOCO1-CISTR intergenic nontranscribed DNase I hypersensitive site-defined enhancer

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

Phenotypes

NHGRI GWAS Catalog

Description
A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
lipid binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
proton-transporting ATP synthase activity, rotational mechanism IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
ATP biosynthetic process TAS
Traceable Author Statement
more info
 
ATP synthesis coupled proton transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cristae formation TAS
Traceable Author Statement
more info
 
mitochondrial ATP synthesis coupled proton transport TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
mitochondrial outer membrane TAS
Traceable Author Statement
more info
 
mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
proton-transporting ATP synthase complex, coupling factor F(o) IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
ATP synthase F(0) complex subunit C2, mitochondrial
Names
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, mitochondrial F0 complex, subunit C2 (subunit 9)
ATP synthase, H+ transporting, mitochondrial Fo complex subunit C2 (subunit 9)
ATPase protein 9
ATPase subunit C

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001002031.4NP_001002031.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform a precursor

    See identical proteins and their annotated locations for NP_001002031.1

    Status: REVIEWED

    Source sequence(s)
    AA748100, AK130971, BG217012
    Consensus CDS
    CCDS31812.1
    UniProtKB/Swiss-Prot
    Q06055
    Related
    ENSP00000499883.1, ENST00000673498.1
    Conserved Domains (1) summary
    MTH00222
    Location:83157
    ATP9; ATP synthase F0 subunit 9; Provisional
  2. NM_001330269.1NP_001317198.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) represents the longest transcript. Variants 2 and 3 encode the same isoform (c).
    Source sequence(s)
    AC073594, AV737582, D13119, H83751
    Consensus CDS
    CCDS81694.1
    UniProtKB/Swiss-Prot
    Q06055
    Conserved Domains (1) summary
    MTH00222
    Location:67141
    ATP9; ATP synthase F0 subunit 9; Provisional
  3. NM_001369753.1NP_001356682.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform c precursor

    Status: REVIEWED

    Source sequence(s)
    AC073594
    Conserved Domains (1) summary
    MTH00222
    Location:67141
    ATP9; ATP synthase F0 subunit 9; Provisional
  4. NM_001369754.1NP_001356683.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform c precursor

    Status: REVIEWED

    Source sequence(s)
    AC073594
    Related
    ENSP00000448801.2, ENST00000552242.5
    Conserved Domains (1) summary
    MTH00222
    Location:67141
    ATP9; ATP synthase F0 subunit 9; Provisional
  5. NM_001369755.1NP_001356684.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform c precursor

    Status: REVIEWED

    Source sequence(s)
    AC073594
    Related
    ENSP00000447317.1, ENST00000549164.5
    Conserved Domains (1) summary
    MTH00222
    Location:67141
    ATP9; ATP synthase F0 subunit 9; Provisional
  6. NM_001369756.1NP_001356685.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform d

    Status: REVIEWED

    Source sequence(s)
    AC073594
    Conserved Domains (1) summary
    MTH00222
    Location:29103
    ATP9; ATP synthase F0 subunit 9; Provisional
  7. NM_001369757.1NP_001356686.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform e

    Status: REVIEWED

    Source sequence(s)
    AC073594
    Conserved Domains (1) summary
    cl00466
    Location:106143
    ATP-synt_C; ATP synthase subunit C
  8. NM_001369758.1NP_001356687.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform f precursor

    Status: REVIEWED

    Source sequence(s)
    AC073594
    Conserved Domains (1) summary
    MTH00222
    Location:65139
    ATP9; ATP synthase F0 subunit 9; Provisional
  9. NM_005176.7NP_005167.3  ATP synthase F(0) complex subunit C2, mitochondrial isoform c precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and uses a downstream start codon compared to variant 1. Variants 2 and 3 encode the same isoform (c).
    Source sequence(s)
    AC073594, AK130971
    Consensus CDS
    CCDS81694.1
    Related
    ENSP00000377878.4, ENST00000394349.8
    Conserved Domains (1) summary
    MTH00222
    Location:67141
    ATP9; ATP synthase F0 subunit 9; Provisional

RNA

  1. NR_163135.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC073594
    Related
    ENST00000549748.2
  2. NR_163136.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC073594
  3. NR_163137.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC073594

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    53665160..53677546 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017019460.1XP_016874949.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform X1

    UniProtKB/Swiss-Prot
    Q06055
    Conserved Domains (1) summary
    MTH00222
    Location:124198
    ATP9; ATP synthase F0 subunit 9; Provisional
  2. XM_017019461.1XP_016874950.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform X2

    UniProtKB/Swiss-Prot
    Q06055
    Conserved Domains (1) summary
    MTH00222
    Location:83157
    ATP9; ATP synthase F0 subunit 9; Provisional
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