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; chr19:46031025-46088122 (-)  GRCh37.p10
Disease Associations		(2) Diseases Associated with Human OPA3

Alleles and phenotypes

All alleles(22) : 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 Type	Results
Immunohistochemistry	27
Western blot	26
RT-PCR	45

cDNA source data(91)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(96) cDNA(91) 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 Knockout Project Status	Opa3

Sequences

Length	Strain/Species
genomic	OTTMUSG00000031701	VEGA Gene Model | MGI Sequence Detail	28210	C57BL/6J
transcript	OTTMUST00000078532	VEGA | MGI Sequence Detail	3366	Not Applicable
polypeptide	OTTMUSP00000041764	VEGA | MGI Sequence Detail	179	Not Applicable

All sequences(36) RefSeq(2) UniProt(1)

Polymorphisms

SNPs(81 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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(35)

Other accession IDs

MGI:2685318