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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4571
    • SNVs : 3402
    • InDels : 1169
    • Last Update : 26/10/2017

    Detailed information for PRPH2






    Basic information
    Official symbolPRPH2
    Official full nameperipherin 2 (retinal degeneration, slow)
    Location6p21.2-p12.3
    Gene typeprotein-coding
    SynonymsAOFMD|AVMD|CACD2|DS|PRPH|RDS|RP7|TSPAN22|rd2
    Quick linksEntrez ID:5961; HGNC:9942; MIM:179605; Ensembl:ENSG00000112619; HPRD:01553; Vega:OTTHUMG00000014701
    GO related
    GO term accessionGO term nameNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-Value
    GO:0050953sensory perception of light stimulus2051002.5539.218.72e-1461.02e-142
    GO:0007601visual perception204992.5439.017.39e-1444.34e-141
    GO:0007600sensory perception4951036.1616.734.54e-1051.78e-102
    GO:0050877neurological system process123710615.396.891.82e-665.34e-64
    GO:0003008system process169510821.095.121.12e-542.63e-52
    GO:0060041retina development in camera-type eye105311.3123.731.13e-341.90e-32
    GO:0007423sensory organ development436485.428.853.27e-323.84e-30
    GO:0001654eye development276393.4311.363.01e-302.94e-28
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0043010camera-type eye development237332.9511.192.13e-251.25e-23
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    Pathway related
    TermSurceNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    PPI related
    IDNumber of reference genesNumber of genesExpected numberRatio of enrichmentP-valueAdjusted P-value
    OMIM related
    chromosomebeginenddisorder MIM numberdisorderphene mapping keygene/locus MIM numbercytogenetic loaction
    chr64266333242691358613105"Choriodal dystrophy, central areolar 2"31796056p21.1
    chr64266333242691358608161"Foveomacular dystrophy, adult-onset, with choroidal neovascularization"31796056p21.1
    chr64266333242691358-Macular dystrophy31796056p21.1
    chr64266333242691358169150"Macular dystrophy, patterned"31796056p21.1
    chr64266333242691358608161"Macular dystrophy, vitelliform"31796056p21.1
    chr64266333242691358608133Retinitis pigmentosa 731796056p21.1
    chr64266333242691358608133"Retinitis pigmentosa, digenic"31796056p21.1
    chr64266333242691358136880Retinitis punctata albescens31796056p21.1
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr642663332426913585961Prph2MGI:102791MP:0001186pigmentation phenotype
    chr642663332426913585961Prph2MGI:102791MP:0003631nervous system phenotype
    chr642663332426913585961Prph2MGI:102791MP:0005384cellular phenotype
    chr642663332426913585961Prph2MGI:102791MP:0005385cardiovascular system phenotype
    chr642663332426913585961Prph2MGI:102791MP:0005387immune system phenotype
    chr642663332426913585961Prph2MGI:102791MP:0005391vision/eye phenotype
    chr642663332426913585961Prph2MGI:102791MP:0005397hematopoietic system phenotype
    Mutation spectrum

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    Gene-disease network

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