ENSMUSG00000023978


Mus musculus

Features
Gene ID: ENSMUSG00000023978
  
Biological name :Prph2
  
Synonyms : P15499 / Peripherin-2 / Prph2
  
Possible biological names infered from orthology : P23942
  
Species: Mus musculus
  
Chr. number: 17
Strand: 1
Band: C
Gene start: 46910459
Gene end: 46924933
  
Corresponding Affymetrix probe sets: 10445633 (MoGene1.0st)   1420511_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000024773
NCBI entrez gene - 19133     See in Manteia.
MGI - MGI:102791
RefSeq - NM_008938
RefSeq Peptide - NP_032964
swissprot - P15499
swissprot - Q3UWK3
Ensembl - ENSMUSG00000023978
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 prph2aENSDARG00000038018Danio rerio
 prph2bENSDARG00000014840Danio rerio
 PRPH2ENSGALG00000009909Gallus gallus
 PRPH2ENSG00000112619Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Rom1 / P32958 / Rod outer segment membrane protein 1 / Q03395* / retinal outer segment membrane protein 1*ENSMUSG0000007164836


Protein motifs (from Interpro)
Interpro ID Name
 IPR000830  Peripherin/rom-1
 IPR008952  Tetraspanin, EC2 domain superfamily
 IPR018498  Peripherin/rom-1, conserved site
 IPR018499  Tetraspanin/Peripherin


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007155 cell adhesion IEA
 biological_processGO:0007166 cell surface receptor signaling pathway IBA
 biological_processGO:0007601 visual perception IEA
 biological_processGO:0060041 retina development in camera-type eye IMP
 cellular_componentGO:0001750 photoreceptor outer segment IDA
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001004 abnormal photoreceptor morphology "structural or developmental anomaly of the receptors sensitive to light " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

Allelic Composition: Prph2Rd2/Prph2+
Genetic Background: either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A)

 MP:0001006 abnormal cone morphology "structural or developmental anomaly of the retinal receptors that give rise to color vision" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

 MP:0001286 abnormal eye development "malformation or arrest of differentiation of the visual organ" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:cls, J:49840]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

 MP:0001325 abnormal retina morphology "structural or developmental anomaly of the thin layer of neural tissue lining the back of the eyeball which contains visual receptors " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Gad2tm1Miya/Gad2tm1Miya
Genetic Background: NOD.129P2-Gad2tm1Miya

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

 MP:0001326 retinal degeneration "pathological change in the thin layer of neural tissue lining the back of the eyeball, which contains visual receptors and can result in the impairment or cessation of retinal neural function" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

Allelic Composition: Prph2tm1Nmc/Prph2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Prph2tm1Nmc/Prph2tm1Nmc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: involves: BALB/c * O20/A

Allelic Composition: Prph2Nmf193/Prph2Nmf193
Genetic Background: C57BL/6J-Prph2Nmf193

 MP:0002446 abnormal macrophage morphology "anomalous structure, number, or composition of the large mononuclear phagocytic cells found in most tissues of the body" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

 MP:0002792 abnormal retinal vascularization "malformation or disorganization of the blood vessels supplying the retina" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Prph2Nmf193/Prph2Nmf193
Genetic Background: C57BL/6J-Prph2Nmf193

 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: Prph2Rd2/Prph2+
Genetic Background: either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A)

 MP:0003728 abnormal photoreceptor layer "malformation/anomalous structure of the photoreceptor layer" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

 MP:0003729 abnormal photoreceptor outer segments "malformation/anomalous structure of the photoreceptor layer which contains stacks of membranous discs that are rich in the visual pigment rhodopsin " [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Prph2Rd2/Prph2+
Genetic Background: either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A)

Allelic Composition: Prph2Rd2/Prph2+
Genetic Background: either: (involves: C3H * O20/A) or (involves: C57BL/LiA * O20/A)

Allelic Composition: Prph2tm1Nmc/Prph2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0003730 abnormal photoreceptor inner segments "malformation/anomalous structure of the photoreceptor layer which contains the machinery of the cell (mitochondria, golgi, endoplasmic reticulum, etc)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Prph2Rd2/Prph2+
Genetic Background: either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A)

 MP:0003731 abnormal outer nuclear layer morphology "malformation/anomalous structure of the retinal layer that contains the nuclei and cell bodies of rods and cones" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

 MP:0003732 abnormal outer plexiform layer morphology "malformation/anomalous structure of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
Show

Allelic Composition: Prph2tm1Nmc/Prph2tm1Nmc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0004021 abnormal rod electrophysiology "anomaly in the function of dark adapted vision mediated by the rods" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Prph2tm1Nmc/Prph2tm1Nmc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Prph2Nmf193/Prph2Nmf193
Genetic Background: C57BL/6J-Prph2Nmf193

Allelic Composition: Prph2Nmf193/Prph2+
Genetic Background: C57BL/6J-Prph2Nmf193

 MP:0004022 abnormal cone electrophysiology "anomaly in the function of light adapted vision mediated by the cones" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Prph2Nmf193/Prph2Nmf193
Genetic Background: C57BL/6J-Prph2Nmf193

Allelic Composition: Prph2Nmf193/Prph2+
Genetic Background: C57BL/6J-Prph2Nmf193

 MP:0005201 abnormal retinal pigment epithelium morphology "anomaly in the epithelial layer of the retina composed of cells containing pigment granules " [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

Allelic Composition: Prph2Rd2/Prph2+
Genetic Background: either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A)

Allelic Composition: Prph2tm1Nmc/Prph2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005547 abnormal Muller cell morphology "anomalous structure of the elongated neuroglial cells that traverse all the layers of the retina and that act as supporting elements" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Prph2Rd2/Prph2+
Genetic Background: either: (involves: C3H * O20/A) or (involves: C57BL/LiA * O20/A)

Allelic Composition: Prph2Rd2/Prph2+
Genetic Background: either: C.O20-Prph2Rd2 or C3.O20-Prph2Rd2

Allelic Composition: Pde6brd1/Pde6brd1,Prph2Rd2/Prph2Rd2
Genetic Background: either: C.Cg-Pde6brd1 Prph2Rd2 or C3.Cg-Pde6brd1 Prph2Rd2

 MP:0005551 abnormal eye electrophysiology "abnormal function of the eye as determined through electrophysiological recordings from single cells or summary recordings from multiple cells (e.g. electroretinogram)" [NMF:Stephanie Pretel, Neuroscience Mutagenesis Facility Curator]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

Allelic Composition: Prph2tm1Nmc/Prph2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: involves: BALB/c * O20/A

 MP:0006069 abnormal retinal neuronal layer morphology "malformation in any of the neuronal layers that make up the retina, including the ganglion cell, inner plexiform, inner nuclear, outer plexiform, outer nuclear layers, the inner and outer segments" [smb:Susan M Bello, Mouse Genome Informatics Curator, Gray s Anatomy:ISBN 0-914294-08-3]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

 MP:0008445 increased retinal cone cell number "greater number of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100]
Show

Allelic Composition: Prph2Rd2/Prph2+
Genetic Background: either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A)

 MP:0008447 absent retinal cone cells "absence of one of the photoreceptor cell types in the retina, in which the photopigment is in invaginations of the cell membrane of the outer segment" [MESH:A08.663.650.650.670.100]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

 MP:0008450 retinal photoreceptor degeneration "a retrogressive impairment of function or destruction of a cell specialized to detect and transduce light, including rods and cones of the retina" [MESH:A08.663.650.650, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Pde6brd1/Pde6brd1,Prph2Rd2/Prph2Rd2
Genetic Background: either: C.Cg-Pde6brd1 Prph2Rd2 or C3.Cg-Pde6brd1 Prph2Rd2

 MP:0008453 decreased retinal rod cell number "reduced number of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650]
Show

Allelic Composition: Prph2tm1Nmc/Prph2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Prph2tm1Nmc/Prph2tm1Nmc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008454 absent retinal rod cells "absence of one of the photoreceptor cell types of the vertebrate retina, in which the photopigment is in stacks of membranous disks separate from the outer cell membrane" [MESH:A08.663.650.650.670.650]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

 MP:0008456 abnormal retinal rod cell outer segment morphology "any strucutral anomaly of the retinal rod cell region which contains stacks of membranous discs separate from the outer cell membrane that are rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

 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: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

Allelic Composition: Prph2Rd2/Prph2+
Genetic Background: either: (involves: BALB/c * O20/A) or (involves: GR/A * O20/A) or (involves: O20/A * STS/A)

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: either: C.O20-Prph2Rd2 or C3.O20-Prph2Rd2

Allelic Composition: Prph2Rd2/Prph2+
Genetic Background: either: C.O20-Prph2Rd2 or C3.O20-Prph2Rd2

Allelic Composition: Prph2tm1Nmc/Prph2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Prph2tm1Nmc/Prph2tm1Nmc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008516 disorganized retinal outer nuclear layer "derangement of the normal pattern 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: Prph2Nmf193/Prph2+
Genetic Background: C57BL/6J-Prph2Nmf193

 MP:0008518 retinal outer nuclear layer degeneration "a retrogressive impairment or destruction 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: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

Allelic Composition: Pde6brd1/Pde6brd1,Prph2Rd2/Prph2Rd2
Genetic Background: involves: C3Hf/HeA * C57BL/LiA * O20/A

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: C3.O20-Prph2Rd2

Allelic Composition: Prph2Nmf193/Prph2Nmf193
Genetic Background: C57BL/6J-Prph2Nmf193

Allelic Composition: Prph2Nmf193/Prph2+
Genetic Background: C57BL/6J-Prph2Nmf193

 MP:0008519 thin retinal outer plexiform layer "reduced thickness of the retinal layer that is the site of synapses between the rods and cones (axons) and the horizontal and bipolar cells (dendrites)" [MGI:monikat "Monika Tomczuk, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

 MP:0008585 absent photoreceptor outer segment "absence of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

Allelic Composition: Pde6brd1/Pde6brd1,Prph2Rd2/Prph2Rd2
Genetic Background: either: C.Cg-Pde6brd1 Prph2Rd2 or C3.Cg-Pde6brd1 Prph2Rd2

Allelic Composition: Prph2tm1Nmc/Prph2tm1Nmc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Prph2Nmf193/Prph2Nmf193
Genetic Background: C57BL/6J-Prph2Nmf193

 MP:0008586 disorganized photoreceptor outer segment "derangement of the pattern of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Prph2tm1Nmc/Prph2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0008587 short photoreceptor outer segment "decreased length of the photoreceptor region that is rich in the visual pigment rhodopsin" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Prph2tm1Nmc/Prph2+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Prph2Nmf193/Prph2+
Genetic Background: C57BL/6J-Prph2Nmf193

 MP:0008852 retinal neovascularization "formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina" [MESH:C11.768.725]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

 MP:0009772 abnormal retinal development "anomaly in any of the steps during embryogenesis that produce the nerve layer lining in the back of the eye which senses light, and creates impulses that travel through the optic nerve to the brain" [MGI:llw2 "Linda Washburn, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

 MP:0011965 decreased total retina thickness "decreased width of the retina through the center plane" [MGI:csmith]
Show

Allelic Composition: Prph2Rd2/Prph2Rd2
Genetic Background: O20/A-Prph2Rd2

 MP:0012671 retinal spots "the appearance of roundish lesions on the retina, frequently white, and may be due to inflammation, degeneration, vasculitis, exudates, edema or mineral deposits" [MGI:csmith]
Show

Allelic Composition: Prph2Nmf193/Prph2+
Genetic Background: C57BL/6J-Prph2Nmf193

 MP:0030005 increased retinal apoptosis "increase in the number of cells in the retina undergoing programmed cell death" [MGI:anna]
Show

Allelic Composition: Prph2tm1Nmc/Prph2tm1Nmc
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Prph2Nmf193/Prph2+
Genetic Background: C57BL/6J-Prph2Nmf193

  


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






 

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