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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 CYP4V2






    Basic information
    Official symbolDFNB31
    Official full namedeafness, autosomal recessive 31
    Location9q32
    Gene typeprotein-coding
    SynonymsCIP98|PDZD7B|USH2D|WHRN|WI
    Quick linksEntrez ID:25861; HGNC:16361; MIM:607928; Ensembl:ENSG00000095397; HPRD:09718; Vega:OTTHUMG00000020539
    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: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:0007423sensory organ development436485.428.853.27e-323.84e-30
    GO:0044707single-multicellular organism process561214369.812.059.21e-297.72e-27
    GO:0032501multicellular organismal process564414370.212.041.83e-281.43e-26
    GO:0044699single-organism process768215295.571.599.26e-193.88e-17
    GO:0030030cell projection organization9344611.623.962.85e-169.84e-15
    GO:0048856anatomical structure development403010250.132.034.19e-161.33e-14
    GO:0032502developmental process457210456.881.833.53e-131.04e-11
    GO:0005488binding11955150132.971.130.00050.0090
    GO:0005515protein binding733710281.611.250.00110.0149
    GO:0005929cilium239552.6121.102.59e-585.08e-56
    GO:0031513nonmotile primary cilium80320.8736.671.40e-421.37e-40
    GO:0072372primary cilium96331.0531.522.93e-411.91e-39
    GO:0042995cell projection12306713.424.995.15e-302.02e-28
    GO:0044463cell projection part639426.976.032.11e-215.17e-20
    GO:0032391photoreceptor connecting cilium23120.2547.832.41e-184.72e-17
    GO:0001917photoreceptor inner segment20100.2245.843.14e-155.13e-14
    GO:0044430cytoskeletal part12873914.042.783.99e-093.91e-08
    GO:0005856cytoskeleton17904719.522.417.23e-096.16e-08
    GO:0002139stereocilia coupling link430.0468.765.07e-063.31e-05
    GO:0002141stereocilia ankle link430.0468.765.07e-063.31e-05
    GO:0002142stereocilia ankle link complex430.0468.765.07e-063.31e-05
    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
    chr9117163359117266495607084"Deafness, autosomal recessive 31"36079289q32
    chr9117163359117266495611383"Usher syndrome, type 2D"36079289q32
    MGI related
    chromosomebeginendgene IDgene symbol of mouseMGIMPphenotype description
    chr911716335911726649525861WhrnMGI:2682003MP:0001186pigmentation phenotype
    chr911716335911726649525861WhrnMGI:2682003MP:0003631nervous system phenotype
    chr911716335911726649525861WhrnMGI:2682003MP:0005367renal/urinary system phenotype
    chr911716335911726649525861WhrnMGI:2682003MP:0005370liver/biliary system phenotype
    chr911716335911726649525861WhrnMGI:2682003MP:0005375adipose tissue phenotype
    chr911716335911726649525861WhrnMGI:2682003MP:0005376homeostasis/metabolism phenotype
    chr911716335911726649525861WhrnMGI:2682003MP:0005377hearing/vestibular/ear phenotype
    chr911716335911726649525861WhrnMGI:2682003MP:0005378growth/size phenotype
    chr911716335911726649525861WhrnMGI:2682003MP:0005379endocrine/exocrine gland phenotype
    chr911716335911726649525861WhrnMGI:2682003MP:0005385cardiovascular system phenotype
    chr911716335911726649525861WhrnMGI:2682003MP:0005386behavior/neurological phenotype
    chr911716335911726649525861WhrnMGI:2682003MP:0005387immune system phenotype
    chr911716335911726649525861WhrnMGI:2682003MP:0005389reproductive system phenotype
    chr911716335911726649525861WhrnMGI:2682003MP:0005391vision/eye phenotype
    chr911716335911726649525861WhrnMGI:2682003MP:0005397hematopoietic system phenotype
    chr911716335911726649525861WhrnMGI:2682003MP:0010771integument phenotype
    Mutation spectrum

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    Gene-disease network

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