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FLASH GENE
Symbol CFAP410 contributors: mct - updated : 13-11-2018
HGNC name cilia and flagella associated protein 410
HGNC id 1260
Corresponding disease
RDMS retinal dystrophy with macular staphyloma
SMADX spondylometaphyseal dysplasia, axial
Location 21q22.3      Physical location : -
Synonym name
  • nuclear encoded mitochondrial protein, cDNA A2-YF5
  • chromosome 21 open reading frame 2
  • leucine-rich repeat-containing protein 76
  • Synonym symbol(s) A2, YF5, C21orf2, LRRC76, RDMS, SMDAX, YF5/A2
    DNA
    TYPE functioning gene
    STRUCTURE 10.47 kb     7 Exon(s)
    MAPPING cloned Y linked N status provisional
    Map cen - D21S2040 - D21S1259 - TMEM1 - D21S1460 - PWP2H ,EHOC5 - D21S25 - PFKL PFKL - C21orf2 - D21S154 - D21S400 - D21S170 - D21S171 - D21S1903 - SUMO3 - ITGB2 - D21S1897 - D21S1575 - qter
    Authors Scott (98),Lapenta (98)
    regionally located the DFNB8/DFNB10 region
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - - 2116 25 256 - 2015 26294103
    - splicing 2116 25 252 - 2015 26294103
    lacking 3aa in exon 4 and 1, exon 7
    - splicing - - 255 - 2015 26294103
    lacking 1aa in exon 7
    7 - 2251 - 255 - 2015 26294103
    7 - 2611 - 375 - 2015 26294103
    7 - 2254 - 256 - 2015 26294103
    8 - 2159 - 214 - 2015 26294103
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousnervecranial nerve  highly
    Reproductivefemale systemovary  highly
     female systembreastmammary gland highly
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    HOMOLOGY
    Homologene
    FAMILY
    CATEGORY DNA associated
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    intracellular,cytoplasm,cytoskeleton,microtubule
    basic FUNCTION
  • affected cell proliferation after DNA damage induced by ionizing radiation, and DNA repair was less efficient in CFAP410-depleted cells compared with control cells
  • functions in the same pathway as NEK1 in DNA damage repair
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • CFAP410 interact with NEK1
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SMADX , RDMS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in Down syndrome
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS