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ATP5MC2 (ATP synthase membrane subunit c locus 2)

Identity

Other aliasATP5A
ATP5G2
HGNC (Hugo) ATP5MC2
LocusID (NCBI) 517
Atlas_Id 80329
Location 12q13.13  [Link to chromosome band 12q13]
Location_base_pair Starts at 53665160 and ends at 53676082 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
Note

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


External links

Nomenclature
HGNC (Hugo)ATP5MC2   842
Cards
Entrez_Gene (NCBI)ATP5MC2  517  ATP synthase membrane subunit c locus 2
AliasesATP5A; ATP5G2
GeneCards (Weizmann)ATP5MC2
Ensembl hg19 (Hinxton)ENSG00000135390 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000135390 [Gene_View]  ENSG00000135390 [Sequence]  chr12:53665160-53676082 [Contig_View]  ATP5MC2 [Vega]
ICGC DataPortalENSG00000135390
TCGA cBioPortalATP5MC2
AceView (NCBI)ATP5MC2
Genatlas (Paris)ATP5MC2
WikiGenes517
SOURCE (Princeton)ATP5MC2
Genetics Home Reference (NIH)ATP5MC2
Genomic and cartography
GoldenPath hg38 (UCSC)ATP5MC2  -     chr12:53665160-53676082 -  12q13.13   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATP5MC2  -     12q13.13   [Description]    (hg19-Feb_2009)
GoldenPathATP5MC2 - 12q13.13 [CytoView hg19]  ATP5MC2 - 12q13.13 [CytoView hg38]
ImmunoBaseENSG00000135390
Mapping of homologs : NCBIATP5MC2 [Mapview hg19]  ATP5MC2 [Mapview hg38]
OMIM603193   
Gene and transcription
Genbank (Entrez)AA748100 AK075351 AK130971 AK311357 AV737582
RefSeq transcript (Entrez)NM_001002031 NM_001330269 NM_001369753 NM_001369754 NM_001369755 NM_001369756 NM_001369757 NM_001369758 NM_005176
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATP5MC2
Cluster EST : UnigeneHs.524464 [ NCBI ]
CGAP (NCI)Hs.524464
Alternative Splicing GalleryENSG00000135390
Gene ExpressionATP5MC2 [ NCBI-GEO ]   ATP5MC2 [ EBI - ARRAY_EXPRESS ]   ATP5MC2 [ SEEK ]   ATP5MC2 [ MEM ]
Gene Expression Viewer (FireBrowse)ATP5MC2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)517
GTEX Portal (Tissue expression)ATP5MC2
Human Protein AtlasENSG00000135390-ATP5MC2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ06055   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ06055  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ06055
Splice isoforms : SwissVarQ06055
PhosPhoSitePlusQ06055
Domaine pattern : Prosite (Expaxy)ATPASE_C (PS00605)   
Domains : Interpro (EBI)ATP_synth_F0_csu    ATP_synth_F0_csu_DDCD_BS    ATP_synth_F0_csu_sf    ATPase_proteolipid_c-like_dom    F/V-ATP_Csub_sf   
Domain families : Pfam (Sanger)ATP-synt_C (PF00137)   
Domain families : Pfam (NCBI)pfam00137   
Conserved Domain (NCBI)ATP5MC2
DMDM Disease mutations517
Blocks (Seattle)ATP5MC2
SuperfamilyQ06055
Human Protein Atlas [tissue]ENSG00000135390-ATP5MC2 [tissue]
Peptide AtlasQ06055
IPIIPI00028482   IPI00792819   IPI00456749   IPI01020864   IPI01022738   
Protein Interaction databases
DIP (DOE-UCLA)Q06055
IntAct (EBI)Q06055
FunCoupENSG00000135390
BioGRIDATP5MC2
STRING (EMBL)ATP5MC2
ZODIACATP5MC2
Ontologies - Pathways
QuickGOQ06055
Ontology : AmiGOmitochondrial proton-transporting ATP synthase complex, coupling factor F(o)  protein binding  mitochondrial outer membrane  ATP biosynthetic process  lipid binding  ATP synthesis coupled proton transport  integral component of membrane  cristae formation  mitochondrial ATP synthesis coupled proton transport  proton-transporting ATP synthase complex, coupling factor F(o)  proton-transporting ATP synthase activity, rotational mechanism  
Ontology : EGO-EBImitochondrial proton-transporting ATP synthase complex, coupling factor F(o)  protein binding  mitochondrial outer membrane  ATP biosynthetic process  lipid binding  ATP synthesis coupled proton transport  integral component of membrane  cristae formation  mitochondrial ATP synthesis coupled proton transport  proton-transporting ATP synthase complex, coupling factor F(o)  proton-transporting ATP synthase activity, rotational mechanism  
NDEx NetworkATP5MC2
Atlas of Cancer Signalling NetworkATP5MC2
Wikipedia pathwaysATP5MC2
Orthology - Evolution
OrthoDB517
GeneTree (enSembl)ENSG00000135390
Phylogenetic Trees/Animal Genes : TreeFamATP5MC2
HOGENOMQ06055
Homologs : HomoloGeneATP5MC2
Homology/Alignments : Family Browser (UCSC)ATP5MC2
Gene fusions - Rearrangements
Fusion : QuiverATP5MC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATP5MC2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATP5MC2
dbVarATP5MC2
ClinVarATP5MC2
1000_GenomesATP5MC2 
Exome Variant ServerATP5MC2
ExAC (Exome Aggregation Consortium)ENSG00000135390
GNOMAD BrowserENSG00000135390
Varsome BrowserATP5MC2
Genetic variants : HAPMAP517
Genomic Variants (DGV)ATP5MC2 [DGVbeta]
DECIPHERATP5MC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATP5MC2 
Mutations
ICGC Data PortalATP5MC2 
TCGA Data PortalATP5MC2 
Broad Tumor PortalATP5MC2
OASIS PortalATP5MC2 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDATP5MC2
BioMutasearch ATP5MC2
DgiDB (Drug Gene Interaction Database)ATP5MC2
DoCM (Curated mutations)ATP5MC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATP5MC2 (select a term)
intoGenATP5MC2
Cancer3DATP5MC2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603193   
Orphanet
DisGeNETATP5MC2
MedgenATP5MC2
Genetic Testing Registry ATP5MC2
NextProtQ06055 [Medical]
TSGene517
GENETestsATP5MC2
Target ValidationATP5MC2
Huge Navigator ATP5MC2 [HugePedia]
snp3D : Map Gene to Disease517
BioCentury BCIQATP5MC2
ClinGenATP5MC2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD517
Chemical/Pharm GKB GenePA25132
Clinical trialATP5MC2
Miscellaneous
canSAR (ICR)ATP5MC2 (select the gene name)
DataMed IndexATP5MC2
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATP5MC2
EVEXATP5MC2
GoPubMedATP5MC2
iHOPATP5MC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Sep 3 15:20:16 CEST 2019

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