ENSMUSG00000052214


Mus musculus

Features
Gene ID: ENSMUSG00000052214
  
Biological name :Opa3
  
Synonyms : Opa3 / optic atrophy 3 / Q505D7
  
Possible biological names infered from orthology : OPA3, outer mitochondrial membrane lipid metabolism regulator / Q9H6K4
  
Species: Mus musculus
  
Chr. number: 7
Strand: 1
Band: A3
Gene start: 19228334
Gene end: 19256543
  
Corresponding Affymetrix probe sets: 10550632 (MoGene1.0st)   1434886_at (Mouse Genome 430 2.0 Array)   1443563_at (Mouse Genome 430 2.0 Array)   1447724_x_at (Mouse Genome 430 2.0 Array)   1455131_at (Mouse Genome 430 2.0 Array)   1458350_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000145909
Ensembl peptide - ENSMUSP00000069965
NCBI entrez gene - 403187     See in Manteia.
MGI - MGI:2686271
RefSeq - NM_207525
RefSeq Peptide - NP_997408
swissprot - A0A0U1RPB1
swissprot - Q505D7
Ensembl - ENSMUSG00000052214
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 opa3ENSDARG00000061761Danio rerio
 OPA3ENSG00000125741Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR010754  Optic atrophy 3-like


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0019216 regulation of lipid metabolic process IMP
 biological_processGO:0040007 growth IMP
 biological_processGO:0050905 neuromuscular process IMP
 biological_processGO:0070584 mitochondrion morphogenesis IMP
 cellular_componentGO:0005739 mitochondrion ISO
 molecular_functionGO:0003674 molecular_function ND


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000005 increased brown fat amount "increased amount of thermogenic tissue in the body that is composed of cells containing multiple small fat droplets" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:14208]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0000010 abnormal abdominal fat pads "malformed or aberrant size of the encapsulated adipose tissue in the abdomen" [J:65146]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0000445 short snout "reduced length of the anterior facial part of the muzzle" [J:53370]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0000598 abnormal liver morphology "malformation or absence of this bile-secreting exocrine gland, which is important for detoxification; for fat, carbohydrate, and protein metabolism; and for glycogen storage " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:23170]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0001258 decreased body length "decreased crown to tail distance compared to controls" [cwg:Carroll W. Goldsmith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0001330 abnormal optic nerve morphology "malformation, misprojection or atrophy in the second cranial nerve which is responsible for conveying visual information from the retina to the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0001429 dehydration "excessive water loss from the body or from an organ or bodily part" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:50053]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0001492 piloerection "the involuntary bristling of hairs" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0001505 hunched posture "stooped low with the limbs pulled in close to the body and arched back" [J:67231, J:30404]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0001732 postnatal growth retardation "slow or limited development after birth " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0001783 decreased white fat amount "reduced quantity of fat-storing cells/tissue" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0002090 abnormal vision "inability or decreased ability to see " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0002628 fatty liver "an accumulation of fat deposits in the liver " [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0002753 dilated left ventricle "an expansion in the volume of the lower left chamber of the heart" [J:82859, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0002754 dilated right ventricle "an expansion in the volume of the lower right chamber of the heart" [J:82859, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0002795 dilated cardiomyopathy "decreased function of the heart associated with cardiac enlargement and congestive heart failure" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0002970 abnormal white fat morphology "structural aberration in the connective tissue consisting of fat-storing cells and arranged in lobular groups or along minor blood vessels" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0002971 abnormal brown fat morphology "defect in the thermogenic form of adipose tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0002981 increased liver weight "a greater than average weight of the bile-secreting exocrine gland" [il:Ira Lu , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0003662 abnormal proliferative zone "germinal layer of the epiphyseal plate where cells are actively dividing as well as producing extracellular matrix" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:96254]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0003727 abnormal retinal layer morphology "malformation in any of the layers that make up the retina" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0003921 abnormal left ventricle morphology "structural anomaly of the left lower chamber of the heart " [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0004701 decreased circulating insulin-like growth factor I level "reduced blood concentration of this polypeptide hormone with growth-regulating, insulin-like, and mitogenic activities" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0004777 abnormal phospholipid level "anomalous concentration of the fat derivatives in which one fatty acid has been replaced by a phosphate group" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0005608 cardiac interstitial fibrosis "formation of fibrous tissue within the interstices of the heart as a result of repair or a reactive process" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0006035 abnormal mitochondrial morphology "anomalous structure of the mitochondria" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0006036 abnormal mitochondrial physiology 
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0006303 abnormal retinal nerve fiber layer morphology "malformation of the layer of the retina formed by expansion of the fibers of the optic nerve" [ISBN:0-914294-08-3 "Gray s Anatomy", J:67382, MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0006309 decreased retinal ganglion cell number "reduced number of ganglion neurons located in the innermost nuclear layer of the retina of that receive visual information from photoreceptors via various intermediate cells such as bipolar cells, amacrine cells, and horizontal cells; axons from these cells form the optic nerve and connect mainly to the lateral geniculate nucleus (LGN) and to the suprachiasmatic nucleus in the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0006395 abnormal epiphyseal plate morphology "any structural anomaly of the cartilaginous center of ossification on the bones permitting growth of the bone in both directions during development" [MESH:A02.835.232.251.352]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0008507 thin retinal ganglion layer "reduced thickness of the innermost nuclear layer of the retina, which contains neurons that project axons through the optic nerve to the brain" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0008513 thin retinal inner plexiform layer "reduced thickness of the retinal cell layer where bipolar and amacrine cell axons synapse with ganglion cell dendrites" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0008515 thin retinal outer nuclear layer "reduced thickness of the retinal layer that contains the nuclei and cell bodies of rods and cones" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0009269 decreased fat cell size "reduction in the size of fat-storing cells found mostly in the abdominal cavity and subcutaneous tissue of mammals" [CL:0000449]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0009355 increased liver triglyceride level "higher than normal concentration of triacylglycerols in the liver" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0009642 abnormal blood homeostasis "anomaly in the processes involved in the maintenance of an internal equilibrium of various functions or chemical or protein composition of the blood" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0010025 decreased total body fat amount "less than the normal total amount of connective tissue composed of fat cells within the entire body" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0010398 decreased liver glycogen level "less than the normal concentration of a readily converted carbohydrate reserve in liver" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0010499 abnormal ventricle myocardium morphology "any structural anomaly of the ventricular part of middle layer of the heart, comprised of involuntary muscle" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0010725 thin interventricular septum "decreased thickness of the wall between the two lower chambers of the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0011015 decreased body surface temperature "reduced degree of heat natural to skin-environment interface of a living being" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

 MP:0011110 partial preweaning lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and weaning age (Mus: approximately 3-4 weeks of age)" [MGI:csmith]
Show

Allelic Composition: Mfrprd6/Mfrprd6
Genetic Background: involves: C3HfB6/Anl

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   


© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr