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 c... See more...

Aliases for ATP5MC2 Gene

Aliases for ATP5MC2 Gene

  • ATP Synthase Membrane Subunit C Locus 2 2 3 4 5
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C2 (Subunit 9) 2 3
  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex Subunit C2 (Subunit 9) 2 3
  • ATP Synthase Proton-Transporting Mitochondrial F(0) Complex Subunit C2 3 4
  • ATP Synthase F(0) Complex Subunit C2, Mitochondrial 3 4
  • ATP Synthase Proteolipid P2 3 4
  • ATPase Protein 9 3 4
  • ATPase Subunit C 3 4
  • ATP5G2 3 4
  • ATP Synthase, H+ Transporting, Mitochondrial F0 Complex, Subunit C (Subunit 9), Isoform 2 2
  • ATP Synthase, H+ Transporting, Mitochondrial Fo Complex, Subunit C2 (Subunit 9) 2
  • ATP Synthase Lipid-Binding Protein, Mitochondrial 3
  • ATP Synthase Lipid-Binding Protein 4
  • ATP Synthase Subunit 9 2
  • ATP Synthase C Subunit 3
  • ATP5MC2 5
  • ATP5A 3

External Ids for ATP5MC2 Gene

Previous HGNC Symbols for ATP5MC2 Gene

  • ATP5G2

Previous GeneCards Identifiers for ATP5MC2 Gene

  • GC12M053656
  • GC12M053658
  • GC12M053660
  • GC12M053662
  • GC12M053650
  • GC12M053652

Summaries for ATP5MC2 Gene

Entrez Gene Summary for ATP5MC2 Gene

  • 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]

GeneCards Summary for ATP5MC2 Gene

ATP5MC2 (ATP Synthase Membrane Subunit C Locus 2) is a Protein Coding gene. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Parkinson disease. An important paralog of this gene is ATP5MC3.

UniProtKB/Swiss-Prot Summary for ATP5MC2 Gene

  • Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element.

Gene Wiki entry for ATP5MC2 Gene

Additional gene information for ATP5MC2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP5MC2 Gene

Genomics for ATP5MC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP5MC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP5MC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP5MC2

Genomic Locations for ATP5MC2 Gene

Genomic Locations for ATP5MC2 Gene
chr12:53,632,726-53,677,546
(GRCh38/hg38)
Size:
44,821 bases
Orientation:
Minus strand
chr12:54,026,510-54,071,192
(GRCh37/hg19)
Size:
44,683 bases
Orientation:
Minus strand

Genomic View for ATP5MC2 Gene

Genes around ATP5MC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP5MC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP5MC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP5MC2 Gene

Proteins for ATP5MC2 Gene

  • Protein details for ATP5MC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q06055-AT5G2_HUMAN
    Recommended name:
    ATP synthase F(0) complex subunit C2, mitochondrial
    Protein Accession:
    Q06055
    Secondary Accessions:
    • B3KQQ6

    Protein attributes for ATP5MC2 Gene

    Size:
    141 amino acids
    Molecular mass:
    14637 Da
    Quaternary structure:
    • F-type ATPases have 2 components, CF(1) - the catalytic core - and CF(0) - the membrane proton channel. CF(1) has five subunits: alpha(3), beta(3), gamma(1), delta(1), epsilon(1). CF(0) has three main subunits: a, b and c (PubMed:8328972). Interacts with DNAJC30; interaction is direct (PubMed:30318146).
    Miscellaneous:
    • There are three genes which encode the mitochondrial ATP synthase proteolipid and they specify precursors with different import sequences but identical mature proteins. Is the major protein stored in the storage bodies of animals or humans affected with ceroid lipofuscinosis (Batten disease).

    Alternative splice isoforms for ATP5MC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATP5MC2 Gene

Post-translational modifications for ATP5MC2 Gene

  • Trimethylated by ATPSCKMT at Lys-109. Methylation is required for proper incorporation of the C subunit into the ATP synthase complex and mitochondrial respiration.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ATP5MC2 Gene

Domains & Families for ATP5MC2 Gene

Gene Families for ATP5MC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ATP5MC2 Gene

InterPro:
Blocks:
  • Eubacterial/plasma membrane H+-transporting two-sector ATPase, C subunit
ProtoNet:

Suggested Antigen Peptide Sequences for ATP5MC2 Gene

GenScript: Design optimal peptide antigens:
  • ATPase subunit c (AT5G2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q06055

UniProtKB/Swiss-Prot:

AT5G2_HUMAN :
  • Belongs to the ATPase C chain family.
Family:
  • Belongs to the ATPase C chain family.
genes like me logo Genes that share domains with ATP5MC2: view

Function for ATP5MC2 Gene

Molecular function for ATP5MC2 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial membrane ATP synthase (F(1)F(0) ATP synthase or Complex V) produces ATP from ADP in the presence of a proton gradient across the membrane which is generated by electron transport complexes of the respiratory chain. F-type ATPases consist of two structural domains, F(1) - containing the extramembraneous catalytic core and F(0) - containing the membrane proton channel, linked together by a central stalk and a peripheral stalk. During catalysis, ATP synthesis in the catalytic domain of F(1) is coupled via a rotary mechanism of the central stalk subunits to proton translocation. Part of the complex F(0) domain. A homomeric c-ring of probably 10 subunits is part of the complex rotary element.

Phenotypes From GWAS Catalog for ATP5MC2 Gene

Gene Ontology (GO) - Molecular Function for ATP5MC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 30318146
GO:0008289 lipid binding IEA --
GO:0015078 proton transmembrane transporter activity IEA --
GO:0046933 proton-transporting ATP synthase activity, rotational mechanism IBA 21873635
genes like me logo Genes that share ontologies with ATP5MC2: view
genes like me logo Genes that share phenotypes with ATP5MC2: view

Animal Models for ATP5MC2 Gene

MGI Knock Outs for ATP5MC2:
  • Atp5g2 Atp5g2<tm2b(EUCOMM)Hmgu>

Animal Model Products

CRISPR Products

miRNA for ATP5MC2 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP5MC2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ATP5MC2 Gene

Localization for ATP5MC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP5MC2 Gene

Mitochondrion membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATP5MC2 gene
Compartment Confidence
mitochondrion 5
extracellular 3
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for ATP5MC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000276 mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) IBA 21873635
GO:0005739 mitochondrion IEA --
GO:0005741 mitochondrial outer membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ATP5MC2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ATP5MC2 Gene

Pathways & Interactions for ATP5MC2 Gene

genes like me logo Genes that share pathways with ATP5MC2: view

Gene Ontology (GO) - Biological Process for ATP5MC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006754 ATP biosynthetic process TAS --
GO:0006811 ion transport IEA --
GO:0015986 ATP synthesis coupled proton transport IEA,IBA 21873635
GO:0042407 cristae formation TAS --
GO:0042776 mitochondrial ATP synthesis coupled proton transport TAS --
genes like me logo Genes that share ontologies with ATP5MC2: view

No data available for SIGNOR curated interactions for ATP5MC2 Gene

Drugs & Compounds for ATP5MC2 Gene

No Compound Related Data Available

Transcripts for ATP5MC2 Gene

mRNA/cDNA for ATP5MC2 Gene

9 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP5MC2

Alternative Splicing Database (ASD) splice patterns (SP) for ATP5MC2 Gene

No ASD Table

Relevant External Links for ATP5MC2 Gene

GeneLoc Exon Structure for
ATP5MC2

Expression for ATP5MC2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP5MC2

Evidence on tissue expression from TISSUES for ATP5MC2 Gene

  • Liver(4.5)
  • Lung(4.5)
  • Nervous system(4.2)
  • Muscle(3.2)
  • Skin(3.2)
  • Heart(2.9)
  • Kidney(2.7)
  • Intestine(2.7)
  • Pancreas(2.7)
  • Blood(2.6)
  • Stomach(2.6)
  • Eye(2.4)
  • Lymph node(2.3)
  • Gall bladder(2.2)
  • Thyroid gland(2.2)
  • Adrenal gland(2.2)
  • Spleen(2.1)
  • Bone marrow(2.1)
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP5MC2 Gene

Orthologs for ATP5MC2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATP5MC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATP5G2 30 31
  • 99.49 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ATP5G2 31
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 31
  • 91 (a)
OneToMany
ATP5G2 30
  • 85.69 (n)
-- 31
  • 79 (a)
OneToMany
-- 31
  • 65 (a)
OneToMany
-- 31
  • 53 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Atp5g2 30 17 31
  • 89.13 (n)
OneToMany
Gm10175 31
  • 88 (a)
OneToMany
Gm17271 31
  • 69 (a)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Atp5g2 30
  • 87 (n)
Cow
(Bos Taurus)
Mammalia ATP5G2 31
  • 87 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 64 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 78 (a)
ManyToMany
Zebrafish
(Danio rerio)
Actinopterygii atp5g3b 30
  • 69.57 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG1746 30 31
  • 64.81 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000523 30
  • 61.79 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y82E9BR.3 31
  • 65 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes OLI1 31
  • 62 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10146 31
  • 72 (a)
OneToMany
Species where no ortholog for ATP5MC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for ATP5MC2 Gene

ENSEMBL:
Gene Tree for ATP5MC2 (if available)
TreeFam:
Gene Tree for ATP5MC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP5MC2: view image

Paralogs for ATP5MC2 Gene

Paralogs for ATP5MC2 Gene

genes like me logo Genes that share paralogs with ATP5MC2: view

Variants for ATP5MC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP5MC2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs13819 - p.Ser58Ile
rs1803177 - p.Met141Lys

Additional dbSNP identifiers (rs#s) for ATP5MC2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP5MC2 Gene

Variant ID Type Subtype PubMed ID
nsv526791 CNV gain 19592680

Variation tolerance for ATP5MC2 Gene

Residual Variation Intolerance Score: 63.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.49; 43.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP5MC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP5MC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP5MC2 Gene

Disorders for ATP5MC2 Gene

No disorders were found for ATP5MC2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ATP5MC2 Gene

Publications for ATP5MC2 Gene

  1. Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase. (PMID: 8328972) Dyer MR … Walker JE (The Biochemical journal 1993) 2 3 4
  2. The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development. (PMID: 30318146) Tebbenkamp ATN … Sestan N (Cell 2018) 3 4
  3. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. Molecular cloning and sequence of two cDNAs for human subunit c of H(+)-ATP synthase in mitochondria. (PMID: 8485160) Higuti T … Tsujita H (Biochimica et biophysica acta 1993) 3 4

Products for ATP5MC2 Gene

  • Biorbyt antibodies for ATP5MC2

Sources for ATP5MC2 Gene