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OPA3 (OPA3, outer mitochondrial membrane lipid metabolism regulator)

Identity

Alias_symbol (synonym)FLJ22187
MGA3
Other alias
HGNC (Hugo) OPA3
LocusID (NCBI) 80207
Atlas_Id 71125
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 45527767 and ends at 45584864 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
C17orf49 (17p13.1) / OPA3 (19q13.32)ITM2C (2q37.1) / OPA3 (19q13.32)MPP7 (10p12.1) / OPA3 (19q13.32)
OPA3 (19q13.32) / CCDC61 (19q13.32)OPA3 (19q13.32) / EML2 (19q13.32)OPA3 (19q13.32) / OPA3 (19q13.32)
PPP1R13L (19q13.32) / OPA3 (19q13.32)

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

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)OPA3   8142
Cards
Entrez_Gene (NCBI)OPA3  80207  OPA3, outer mitochondrial membrane lipid metabolism regulator
AliasesMGA3
GeneCards (Weizmann)OPA3
Ensembl hg19 (Hinxton)ENSG00000125741 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125741 [Gene_View]  chr19:45527767-45584864 [Contig_View]  OPA3 [Vega]
ICGC DataPortalENSG00000125741
TCGA cBioPortalOPA3
AceView (NCBI)OPA3
Genatlas (Paris)OPA3
WikiGenes80207
SOURCE (Princeton)OPA3
Genetics Home Reference (NIH)OPA3
Genomic and cartography
GoldenPath hg38 (UCSC)OPA3  -     chr19:45527767-45584864 -  19q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OPA3  -     19q13.32   [Description]    (hg19-Feb_2009)
EnsemblOPA3 - 19q13.32 [CytoView hg19]  OPA3 - 19q13.32 [CytoView hg38]
Mapping of homologs : NCBIOPA3 [Mapview hg19]  OPA3 [Mapview hg38]
OMIM165300   258501   606580   
Gene and transcription
Genbank (Entrez)AK025840 AK098798 AK296429 AM392686 BC005059
RefSeq transcript (Entrez)NM_001017989 NM_025136
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)OPA3
Cluster EST : UnigeneHs.723713 [ NCBI ]
CGAP (NCI)Hs.723713
Alternative Splicing GalleryENSG00000125741
Gene ExpressionOPA3 [ NCBI-GEO ]   OPA3 [ EBI - ARRAY_EXPRESS ]   OPA3 [ SEEK ]   OPA3 [ MEM ]
Gene Expression Viewer (FireBrowse)OPA3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80207
GTEX Portal (Tissue expression)OPA3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H6K4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H6K4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H6K4
Splice isoforms : SwissVarQ9H6K4
PhosPhoSitePlusQ9H6K4
Domains : Interpro (EBI)OPA3-like   
Domain families : Pfam (Sanger)OPA3 (PF07047)   
Domain families : Pfam (NCBI)pfam07047   
Conserved Domain (NCBI)OPA3
DMDM Disease mutations80207
Blocks (Seattle)OPA3
SuperfamilyQ9H6K4
Human Protein AtlasENSG00000125741
Peptide AtlasQ9H6K4
HPRD05956
IPIIPI00018600   IPI00556519   IPI01012068   
Protein Interaction databases
DIP (DOE-UCLA)Q9H6K4
IntAct (EBI)Q9H6K4
FunCoupENSG00000125741
BioGRIDOPA3
STRING (EMBL)OPA3
ZODIACOPA3
Ontologies - Pathways
QuickGOQ9H6K4
Ontology : AmiGOmitochondrion  mitochondrion  mitochondrion  visual perception  regulation of lipid metabolic process  growth  response to stimulus  neuromuscular process  mitochondrion morphogenesis  
Ontology : EGO-EBImitochondrion  mitochondrion  mitochondrion  visual perception  regulation of lipid metabolic process  growth  response to stimulus  neuromuscular process  mitochondrion morphogenesis  
NDEx NetworkOPA3
Atlas of Cancer Signalling NetworkOPA3
Wikipedia pathwaysOPA3
Orthology - Evolution
OrthoDB80207
GeneTree (enSembl)ENSG00000125741
Phylogenetic Trees/Animal Genes : TreeFamOPA3
HOVERGENQ9H6K4
HOGENOMQ9H6K4
Homologs : HomoloGeneOPA3
Homology/Alignments : Family Browser (UCSC)OPA3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOPA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OPA3
dbVarOPA3
ClinVarOPA3
1000_GenomesOPA3 
Exome Variant ServerOPA3
ExAC (Exome Aggregation Consortium)OPA3 (select the gene name)
Genetic variants : HAPMAP80207
Genomic Variants (DGV)OPA3 [DGVbeta]
DECIPHEROPA3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisOPA3 
Mutations
ICGC Data PortalOPA3 
TCGA Data PortalOPA3 
Broad Tumor PortalOPA3
OASIS PortalOPA3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICOPA3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDOPA3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch OPA3
DgiDB (Drug Gene Interaction Database)OPA3
DoCM (Curated mutations)OPA3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)OPA3 (select a term)
intoGenOPA3
Cancer3DOPA3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM165300    258501    606580   
Orphanet10907    10897   
MedgenOPA3
Genetic Testing Registry OPA3
NextProtQ9H6K4 [Medical]
TSGene80207
GENETestsOPA3
Target ValidationOPA3
Huge Navigator OPA3 [HugePedia]
snp3D : Map Gene to Disease80207
BioCentury BCIQOPA3
ClinGenOPA3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD80207
Chemical/Pharm GKB GenePA31929
Clinical trialOPA3
Miscellaneous
canSAR (ICR)OPA3 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineOPA3
EVEXOPA3
GoPubMedOPA3
iHOPOPA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 18 13:32:40 CEST 2017

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