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Opa3 Gene Detail
Summary
  • Symbol
    Opa3
  • Name
    optic atrophy 3
  • Synonyms
    D630048P19Rik, LOC243868, LOC384570
  • Feature Type
    protein coding gene
  • IDs
    MGI:2686271
    NCBI Gene: 403187
  • Gene Overview
    MyGene.info: OPA3
Location & Maps
more
  • Sequence Map
    Chr7:19228334-19256543 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      28210 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 9.48 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    OPA3, optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
  • Vertebrate Orthologs
    6
  • Human Ortholog
    OPA3, optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
    Orthology source: HomoloGene
  • Synonyms
    MGA3
  • Links
    NCBI Gene ID: 80207
    neXtProt AC: NX_Q9H6K4

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

Human Diseases
more
  • Diseases
    1 with Opa3 mouse models; 2 with human OPA3 associations

Human Disease Mouse Models
       3-methylglutaconic Aciduria, Type III; MGCA3   OMIM: 258501 View 1 model
       Optic Atrophy 3, Autosomal Dominant; OPA3   OMIM: 165300
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    49 phenotypes from 1 allele in 1 genetic background
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    21
  • Chemically induced (ENU)
    1
  • Gene trapped
    19
  • Targeted
    1
  • Incidental Mutations
Mice homozygous for an ENU mutagenesis exhibit premature lethality, decreased body weight, dilated cardiomyopathy, axon degeneration and gross neuromuscular defects.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000031701 VEGA Gene Model | MGI Sequence Detail 28210 C57BL/6J ±  kb
transcript OTTMUST00000081591 VEGA | MGI Sequence Detail 1390 Not Applicable  
polypeptide OTTMUSP00000075012 VEGA | MGI Sequence Detail 208 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    219 from dbSNP Build 142
Protein
Information
less
  • UniProt
    2 Sequences
  • InterPro Domains
    IPR010754 Optic atrophy 3-like
Molecular
Reagents
less
  • All nucleic 95
    cDNA 90
    Primer pair 5

    Microarray probesets 7
Other
Accession IDs
less
MGI:2685318
References
more
  • Summaries
    All 30
    Developmental Gene Expression 1
    Diseases 2
    Gene Ontology 5
    Phenotypes 8
  • 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

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/17/2016
MGI 6.05
The Jackson Laboratory