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FLASH GENE
Symbol C2orf71 contributors: mct - updated : 04-06-2010
HGNC name chromosome 2 open reading frame 71
HGNC id 34383
Corresponding disease
RP54 retinitis pigmentosa 54
Location 2p23.2      Physical location : 29.284.557 - 29.297.127
Synonym name hypothetical protein LOC388939
Synonym symbol(s) FLJ34931
DNA
TYPE functioning gene
STRUCTURE 12.57 kb     2 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
2 - 7044 - 1288 - 2010 20398884
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Visualeyeretina  highly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Visualrod photoreceptor Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • sites that undergo post-translational lipid modifications (G2 and C3 AAs are completely conserved in all known C2ORF71 orthologs)
    • HOMOLOGY
    Homologene
    FAMILY
    CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule
    text likely to localize to the connecting cilium or outer segment of photoreceptor cells
    basic FUNCTION
  • plays an important role in the development of normal vision
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacts with membranes during some portion of its existence in the retina
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) RP54
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS