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

    Gene ID: 517, updated on 27-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:842
    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
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    Genomic context

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    See ATP5MC2 in Genome Data Viewer
    Location:
    12q13.13
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (53665170..53681423, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (53631253..53647563, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (54058954..54070114, complement)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124902938 Neighboring gene Sharpr-MPRA regulatory region 12722 Neighboring gene ribosomal protein L31 pseudogene 51 Neighboring gene Sharpr-MPRA regulatory region 2395 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6426 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6427 Neighboring gene Sharpr-MPRA regulatory region 7415 Neighboring gene calcium binding and coiled-coil domain 1 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:54118812-54120011 Neighboring gene uncharacterized LOC105369774 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54133003-54133792 Neighboring gene uncharacterized LOC105378250 Neighboring gene CALCOCO1-CISTR intergenic nontranscribed DNase I hypersensitive site-defined enhancer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54141521-54142049 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54142050-54142577 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:54144138-54144726 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4517 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4518 Neighboring gene chondrogenesis-associated transcript

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. The expression of subunit c correlates with and thus may limit the biosynthesis of the mitochondrial F0F1-ATPase in brown adipose tissue. Houstĕk J, et al. J Biol Chem, 1995 Mar 31. PMID 7706317
    2. Molecular cloning and sequence of two cDNAs for human subunit c of H(+)-ATP synthase in mitochondria. Higuti T, et al. Biochim Biophys Acta, 1993 Apr 29. PMID 8485160
    3. Persistence of the mitochondrial permeability transition in the absence of subunit c of human ATP synthase. He J, et al. Proc Natl Acad Sci U S A, 2017 Mar 28. PMID 28289229, Free PMC Article
    4. Human liver cDNA clones encoding proteolipid subunit 9 of the mitochondrial ATPase complex. Farrell LB, et al. Biochem Biophys Res Commun, 1987 May 14. PMID 2883974
    5. Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3). Yan WL, et al. Genomics, 1994 Nov 15. PMID 7698763

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ATP5G1, ATP5G2, and ATP5G3 of the ATP synthase are not involved in forming the permeability transition pore.
      Title: Persistence of the mitochondrial permeability transition in the absence of subunit c of human ATP synthase.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lipid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables proton transmembrane transporter activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in proton motive force-driven ATP synthesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in proton motive force-driven ATP synthesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in proton transmembrane transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in mitochondrial inner membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in mitochondrial inner membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in mitochondrion HTP PubMed 
    part_of proton-transporting ATP synthase complex, coupling factor F(o) IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    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
    dicyclohexylcarbodiimide (DCCD)-reactive proteolipid subunit

    NCBI Reference Sequences (RefSeq)

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    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_001002031.4 → NP_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:83 → 157
      ATP9; ATP synthase F0 subunit 9; Provisional

    2. NM_001330269.2 → NP_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
      B3KQQ6, Q06055
      Conserved Domains (1) summary
      MTH00222
      Location:67 → 141
      ATP9; ATP synthase F0 subunit 9; Provisional

    3. NM_001369753.1 → NP_001356682.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform c precursor

      Status: REVIEWED

      Source sequence(s)
      AC073594
      Consensus CDS
      CCDS81694.1
      UniProtKB/Swiss-Prot
      B3KQQ6, Q06055
      Conserved Domains (1) summary
      MTH00222
      Location:67 → 141
      ATP9; ATP synthase F0 subunit 9; Provisional

    4. NM_001369754.1 → NP_001356683.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform c precursor

      Status: REVIEWED

      Source sequence(s)
      AC073594
      Consensus CDS
      CCDS81694.1
      UniProtKB/Swiss-Prot
      B3KQQ6, Q06055
      Related
      ENSP00000448801.2, ENST00000552242.5
      Conserved Domains (1) summary
      MTH00222
      Location:67 → 141
      ATP9; ATP synthase F0 subunit 9; Provisional

    5. NM_001369755.1 → NP_001356684.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform c precursor

      Status: REVIEWED

      Source sequence(s)
      AC073594
      Consensus CDS
      CCDS81694.1
      UniProtKB/Swiss-Prot
      B3KQQ6, Q06055
      Related
      ENSP00000447317.1, ENST00000549164.5
      Conserved Domains (1) summary
      MTH00222
      Location:67 → 141
      ATP9; ATP synthase F0 subunit 9; Provisional

    6. NM_001369756.1 → NP_001356685.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform d

      Status: REVIEWED

      Source sequence(s)
      AC073594
      UniProtKB/TrEMBL
      E7EQ97
      Conserved Domains (1) summary
      MTH00222
      Location:29 → 103
      ATP9; ATP synthase F0 subunit 9; Provisional

    7. NM_001369757.1 → NP_001356686.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform e

      Status: REVIEWED

      Source sequence(s)
      AC073594
      Conserved Domains (1) summary
      cl00466
      Location:106 → 143
      ATP-synt_C; ATP synthase subunit C

    8. NM_001369758.1 → NP_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:65 → 139
      ATP9; ATP synthase F0 subunit 9; Provisional

    9. NM_005176.7 → NP_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
      UniProtKB/Swiss-Prot
      B3KQQ6, Q06055
      Related
      ENSP00000377878.5, ENST00000394349.9
      Conserved Domains (1) summary
      MTH00222
      Location:67 → 141
      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: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      53665170..53681423 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047428989.1 → XP_047284945.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B3KQQ6, Q06055

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      53631253..53647563 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054372257.1 → XP_054228232.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform X1

      UniProtKB/Swiss-Prot
      B3KQQ6, Q06055

    2. XM_054372255.1 → XP_054228230.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform X2

    3. XM_054372256.1 → XP_054228231.1  ATP synthase F(0) complex subunit C2, mitochondrial isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q06055.1 GenPept UniProtKB/Swiss-Prot:Q06055

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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