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 cattle; 1 dog; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: OPA3
Protein SuperFamily: Optic atrophy 3 protein
Gene Tree: Opa3

Human
homologs
OPA3, optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 80207
neXtProt AC: NX_Q9H6K4

Human Synonyms: MGA3

Human Chr (Location): 19q13.32; chr19:45526863-45584864 (-)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human OPA3

Mutations,
alleles, and
phenotypes
All mutations/alleles(21) : Chemically induced (ENU)(1) Gene trapped(19) Targeted(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for an ENU mutagenesis exhibit premature lethality, decreased body weight, dilated cardiomyopathy, axon degeneration and gross neuromuscular defects.
 
Human Diseases Modeled in Mice Using Opa3 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Opa3 interacts with 261 markers (Mir7-1, Mir7-2, Mir7b, ...)
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 (40)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 27
Western blot 26
RT-PCR 45
cDNA source data(90)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase opa3 ; ZFIN opa3    NEW 
Molecular
reagents
All nucleic(95) cDNA(90) Primer pair(5)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000031701 (Evidence)
Ensembl Gene Model ENSMUSG00000052214 (Evidence)
Entrez Gene 403187 (Evidence)
UniGene 239583
DFCI TC1575192, TC1622501, TC1640941
DoTS DT.91337153
NIA Mouse Gene Index U007758
Consensus CDS Project CCDS20894.1
International Mouse Phenotyping Consortium Status Opa3
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(34)
Disease annotation references (2)
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
08/25/2015
MGI 6.0
The Jackson Laboratory