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OPA3 (outer mitochondrial membrane lipid metabolism regulator OPA3)

Identity

Alias (NCBI)MGA3
HGNC (Hugo) OPA3
HGNC Alias symbFLJ22187
MGA3
HGNC Alias name3-methylglutaconic aciduria type III
HGNC Previous nameoptic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
 OPA3, outer mitochondrial membrane lipid metabolism regulator
LocusID (NCBI) 80207
Atlas_Id 58285
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 45546281 and ends at 45584802 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)
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    outer mitochondrial membrane lipid metabolism regulator OPA3
AliasesMGA3
GeneCards (Weizmann)OPA3
Ensembl hg19 (Hinxton)ENSG00000125741 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125741 [Gene_View]  ENSG00000125741 [Sequence]  chr19:45546281-45584802 [Contig_View]  OPA3 [Vega]
ICGC DataPortalENSG00000125741
TCGA cBioPortalOPA3
AceView (NCBI)OPA3
Genatlas (Paris)OPA3
SOURCE (Princeton)OPA3
Genetics Home Reference (NIH)OPA3
Genomic and cartography
GoldenPath hg38 (UCSC)OPA3  -     chr19:45546281-45584802 -  19q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)OPA3  -     19q13.32   [Description]    (hg19-Feb_2009)
GoldenPathOPA3 - 19q13.32 [CytoView hg19]  OPA3 - 19q13.32 [CytoView hg38]
ImmunoBaseENSG00000125741
Genome Data Viewer NCBIOPA3 [Mapview hg19]  
OMIM165300   258501   606580   
Gene and transcription
Genbank (Entrez)AK025840 AK098798 AK296429 BC005059 BC047316
RefSeq transcript (Entrez)NM_001017989 NM_025136
Consensus coding sequences : CCDS (NCBI)OPA3
Gene ExpressionOPA3 [ NCBI-GEO ]   OPA3 [ EBI - ARRAY_EXPRESS ]   OPA3 [ SEEK ]   OPA3 [ MEM ]
Gene Expression Viewer (FireBrowse)OPA3 [ Firebrowse - Broad ]
GenevisibleExpression of OPA3 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)80207
GTEX Portal (Tissue expression)OPA3
Human Protein AtlasENSG00000125741-OPA3 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9H6K4
Domains : Interpro (EBI)OPA3-like   
Domain families : Pfam (Sanger)OPA3 (PF07047)   
Domain families : Pfam (NCBI)pfam07047   
Conserved Domain (NCBI)OPA3
SuperfamilyQ9H6K4
AlphaFold pdb e-kbQ9H6K4   
Human Protein Atlas [tissue]ENSG00000125741-OPA3 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q9H6K4
IntAct (EBI)Q9H6K4
BioGRIDOPA3
STRING (EMBL)OPA3
ZODIACOPA3
Ontologies - Pathways
QuickGOQ9H6K4
Ontology : AmiGOmitochondrion  mitochondrion  mitochondrion  visual perception  regulation of lipid metabolic process  response to stimulus  
Ontology : EGO-EBImitochondrion  mitochondrion  mitochondrion  visual perception  regulation of lipid metabolic process  response to stimulus  
NDEx NetworkOPA3
Atlas of Cancer Signalling NetworkOPA3
Wikipedia pathwaysOPA3
Orthology - Evolution
OrthoDB80207
GeneTree (enSembl)ENSG00000125741
Phylogenetic Trees/Animal Genes : TreeFamOPA3
Homologs : HomoloGeneOPA3
Homology/Alignments : Family Browser (UCSC)OPA3
Gene fusions - Rearrangements
Fusion : QuiverOPA3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerOPA3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)OPA3
dbVarOPA3
ClinVarOPA3
MonarchOPA3
1000_GenomesOPA3 
Exome Variant ServerOPA3
GNOMAD BrowserENSG00000125741
Varsome BrowserOPA3
ACMGOPA3 variants
VarityQ9H6K4
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]  
Somatic Mutations in Cancer : COSMIC3DOPA3
Mutations and Diseases : HGMDOPA3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaOPA3
DgiDB (Drug Gene Interaction Database)OPA3
DoCM (Curated mutations)OPA3
CIViC (Clinical Interpretations of Variants in Cancer)OPA3
Cancer3DOPA3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM165300    258501    606580   
Orphanet
DisGeNETOPA3
MedgenOPA3
Genetic Testing Registry OPA3
NextProtQ9H6K4 [Medical]
GENETestsOPA3
Target ValidationOPA3
Huge Navigator OPA3 [HugePedia]
ClinGenOPA3
Clinical trials, drugs, therapy
MyCancerGenomeOPA3
Protein Interactions : CTDOPA3
PharosQ9H6K4
Clinical trialOPA3
Miscellaneous
canSAR (ICR)OPA3
HarmonizomeOPA3
ARCHS4OPA3
DataMed IndexOPA3
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXOPA3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sun Jan 16 18:25:50 CET 2022

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