About   Help   FAQ
Opa3
Gene Detail
 Symbol
Name
ID
Opa3
optic atrophy 3
MGI:2686271
Synonyms D630048P19Rik, LOC243868, LOC384570
Feature Type protein coding gene
Genetic Map
Chromosome 7
9.48 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr7:19228334-19256543 bp, + strand
From VEGA annotation of GRCm38

  28210 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:57022  Vertebrate Homology Class
1 human; 1 mouse; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Protein SuperFamily: Optic atrophy 3 protein
Gene Tree: Opa3

Human
homologs
Human Homolog OPA3, optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
NCBI Gene ID 80207
neXtProt AC  NX_Q9H6K4
Human Synonyms  MGA3
Human Chr (Location)  19q13.32; chr19:45527767-45584864 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human OPA3
Alleles
and
phenotypes
All alleles(23) : Targeted(1) Gene trapped(21) Chemically induced(1)
 
Mice homozygous for an ENU mutagenesis exhibit premature lethality, decreased body weight, dilated cardiomyopathy, axon degeneration and gross neuromuscular defects.
 
Human Diseases Modeled Using Mouse Opa3 (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (8 annotations)
Process growth, mitochondrion morphogenesis, ...
Component mitochondrion
Function molecular_function
This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (98)    Tissues (39)   
Theiler Stages: 12, 16, 20, 21, 22, 23, 24, 25, 28
Assay TypeResults
Immunohistochemistry 27
Western blot 26
RT-PCR 45
cDNA source data(90)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(95) cDNA(90) Primer pair(5)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000031701 (Evidence)
Ensembl Gene ModelENSMUSG00000052214 (Evidence)
Entrez Gene403187 (Evidence)
UniGene239583
DFCITC1575192, TC1622501, TC1640941
DoTSDT.91337153
NIA Mouse Gene IndexU007758
Consensus CDS ProjectCCDS20894.1
International Mouse Knockout Project StatusOpa3
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031701 VEGA Gene Model | MGI Sequence Detail 28210 C57BL/6J ±  kb
transcript OTTMUST00000078532 VEGA | MGI Sequence Detail 3366 Not Applicable 
polypeptide OTTMUSP00000041764 VEGA | MGI Sequence Detail 179 Not Applicable 

For the selected sequences
All sequences(36) RefSeq(2) UniProt(1)
Polymorphisms SNPs within 2kb(219 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR010754 Optic atrophy 3-like
Protein Ontology PR:000011645 optic atrophy 3 protein
References (Earliest) J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
(Latest) J:188346 Wells T, et al., Opa3, a novel regulator of mitochondrial function, controls thermogenesis and abdominal fat mass in a mouse model for Costeff syndrome. Hum Mol Genet. 2012 Nov 15;21(22):4836-44
All references(36)
Other
accession IDs
MGI:2685318

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/08/2014
MGI 5.17
The Jackson Laboratory