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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
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:19228389-19246817 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 9.48 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    165 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2686271
protein coding gene Chr7:19228334-19256543 (.)
129S1/SvImJ MGP_129S1SvImJ_G0031766
protein coding gene Chr7:17197022-17232684 (+)
A/J MGP_AJ_G0031742
protein coding gene Chr7:16870978-16899561 (+)
AKR/J MGP_AKRJ_G0031668
protein coding gene Chr7:17330337-17360708 (+)
BALB/cJ MGP_BALBcJ_G0031747
protein coding gene Chr7:17072088-17100341 (+)
C3H/HeJ MGP_C3HHeJ_G0031469
protein coding gene Chr7:17596984-17626053 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032213
protein coding gene Chr7:18077162-18110578 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029279
protein coding gene Chr7:18517105-18545386 (+)
CAST/EiJ MGP_CASTEiJ_G0030812
protein coding gene Chr7:14000142-14030679 (+)
CBA/J MGP_CBAJ_G0031431
protein coding gene Chr7:18747456-18780239 (+)
DBA/2J MGP_DBA2J_G0031586
protein coding gene Chr7:16808020-16838870 (+)
FVB/NJ MGP_FVBNJ_G0031538
protein coding gene Chr7:16670889-16699982 (+)
LP/J MGP_LPJ_G0031669
protein coding gene Chr7:17536611-17566423 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0031574
protein coding gene Chr7:18594008-18629945 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032241
protein coding gene Chr7:16937862-16967578 (+)
PWK/PhJ MGP_PWKPhJ_G0030536
protein coding gene Chr7:13897513-13926661 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030363
protein coding gene Chr7:11648555-11682764 (+)
WSB/EiJ MGP_WSBEiJ_G0030912
protein coding gene Chr7:17152275-17181607 (+)



Homology
more
  • Human Ortholog
    OPA3, OPA3, outer mitochondrial membrane lipid metabolism regulator
  • Vertebrate Orthologs
    6
  • Human Ortholog
    OPA3, OPA3, outer mitochondrial membrane lipid metabolism regulator
    Orthology source: HGNC, HomoloGene
  • Synonyms
    MGA3
  • Links
    NCBI Gene ID: 80207
    neXtProt AC: NX_Q9H6K4
    UniProt: Q9H6K4

  • Chr Location
    19q13.32; chr19:45527767-45584864 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
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
less
  • Phenotype Summary
    49 phenotypes from 1 allele in 1 genetic background
    9 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for an ENU mutagenesis exhibit premature lethality, decreased body weight, dilated cardiomyopathy, axon degeneration and gross neuromuscular defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 403187 NCBI Gene Model | MGI Sequence Detail 18429 C57BL/6J ±  kb
    transcript NM_207525 RefSeq | MGI Sequence Detail 2260 C57BL/6  
    polypeptide Q505D7 UniProt | EBI | MGI Sequence Detail 179 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 97
      cDNA 91
      Primer pair 5
      Other 1

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2685318
    References
    more
    • Summaries
      All 34
      Developmental Gene Expression 2
      Diseases 2
      Gene Ontology 7
      Phenotypes 9
    • 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:236995 Navein AE, et al., Disrupted mitochondrial function in the Opa3L122P mouse model for Costeff Syndrome impairs skeletal integrity. Hum Mol Genet. 2016 Jun 15;25(12):2404-2416

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    12/04/2018
    MGI 6.13
    The Jackson Laboratory