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FLASH GENE
Symbol HYDIN contributors: mct - updated : 13-10-2012
HGNC name hydrocephalus inducing
HGNC id 19368
Corresponding disease
ICS19 immotile cilia syndrome 19
Location 16q22.2      Physical location : 70.841.289 - 71.264.569
Synonym name
  • protein phosphatase 1, regulatory subunit 31
  • Synonym symbol(s) FLJ12871, FLJ14665, KIAA1864, HYDIN1, HYDIN2, PPP1R31
    DNA
    TYPE functioning gene
    SPECIAL FEATURE
    text duplicated onto chromosome 1 (HYDIN2)
    STRUCTURE 423.34 kb     86 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence Binding site
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    86 - 15746 575.8 5120 - 2006 16938426
    20 - 3718 114.2 1017 - 2006 16938426
    19 - 3152 106.3 950 - 2006 16938426
    19 - 3122 105.3 940 - 2006 16938426
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Endocrinethyroid   highly
    Reproductivemale systemtestis  highly
    Visualeyeretina  highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text eye
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY structural protein
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • potential central pair protein required for ciliary motility
  • axonemal protein, involved in growth and microtubule motility
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ICS19
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mice with Hydin defects develop lethal hydrocephalus, and hydrocephalus is caused by a central pair defect impairing ciliary motility and fluid transport in the brain