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FLASH GENE
Symbol TDRD7 contributors: mct - updated : 26-10-2018
HGNC name tudor domain containing 7
HGNC id 29303
Corresponding disease
ARCC7 congenital cataract, autosomal recessive 7
Location 9q22.33      Physical location : 100.174.301 - 100.258.403
Synonym name
  • Behcet's Disease Associated Gene 1
  • PCTAIRE2-binding protein
  • KIAA1529
  • tudor repeat associator with PCTAIRE 2
  • Synonym symbol(s) DKFZp434I2420, BDAG1, MGC131724, RP11-23J9.1, DKFZp686G1725, CATC4, KIAA1529, PCTAIRE2BP, RP11-508D10.1, TRAP
    DNA
    TYPE functioning gene
    STRUCTURE 138.79 kb     49 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    49 - 6269 - 1646 - 2011 21436445
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   predominantly Homo sapiens
     brainhindbraincerebellum   Homo sapiens
     brainforebraincerebral cortex   Homo sapiens
    Reproductivemale systemtestis  predominantly Homo sapiens
    Visualeye     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Nervouscentral    Homo sapiens
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Reproductivegerm cell Homo sapiens
    Reproductivespermatocyte Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • three copies of the LOTUS domain (domain found in germline-specific proteins that are present in the nuage/polar granules of germ cells) in its extreme N-terminus
  • a TUDOR domain binding symmetric dimethyl arginines present on the germ cell-specific Piwi proteins, which form a particular clade of Argonaute proteins
  • C-terminal two tudor-like domains.
  • HOMOLOGY
    Homologene
    FAMILY tudor domain containing gene family
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,cytosolic,granule
    text
  • localizes to chromatoid bodies
  • basic FUNCTION
  • tandem tudor domain protein that is expressed in male germ cells and localizes to chromatoid bodies
  • essential for haploid spermatid development and with TDRD6, are key biogenesis processes of chromatoid bodies
  • TDRD7 and TDRD6 constitute a spermiogenic class of tudor family genes, which function in a sequential and nonredundant manner
  • TDRD7 and TDRD6, play key roles in the early ribonucleoprotein remodeling and later structural maintenance, respectively
  • essential for early spermatid differentiation and is a master regulator of the biogenesis of chromatoid bodies
  • essential for dynamic ribonucleoprotein (RNP) remodeling of chromatoid bodies during spermatogenesis
  • TDRD5 and TDRD7, play key roles in facilitating the function of PIWIs by acting as scaffolds
  • TDRD5-TDRD7 are required for spermiogenesis
  • TDRD5, TDRD7, RNF17 proteins play distinct roles during male germ cell development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • associates with the N-terminal domain of PCTAIRE 2 (CDK17) through its C-terminal domain which contains two tudor-like domains, and is a physiological partner of CDK17 in terminally differentiated neurons
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCC7
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    causing cataracts and glaucoma, which become severe with age
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS