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FLASH GENE
Symbol C12orf65 contributors: npt/shn - updated : 27-06-2019
HGNC name chromosome 12 open reading frame 65
HGNC id 26784
DNA
TYPE functioning gene
STRUCTURE 24.64 kb     3 Exon(s)
MAPPING cloned Y linked N status provisional
Map cen - D12S1349 - D12S1603 - C12orf65 - D12S378 - D12S1612 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 1692 18.7 166 - -
3 - 1901 18.7 166 - -
3 - 1608 18.7 166 - -
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivepharynx    
Endocrineparathyroid    
Lymphoid/Immunethymus    
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to LOC100910427, Rattus norvegicus
ortholog to 2810006K23Rik, Mus musculus
ortholog to C12H12orf65, Pan troglodytes
Homologene
FAMILY
  • prokaryotic/mitochondrial release factor family
  • CATEGORY unknown/unspecified
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,matrix
    basic FUNCTION
  • may be a soluble matrix protein that does not associate with the mitochondrial ribosome, so it could perhaps play a role in processing peptidyl-tRNAs that have been prematurely released during polypeptide elongation
  • might play a role in recycling abortive peptidyl-tRNA species, released from the ribosome during the elongation phase of translation
  • participates in the process of mitochondrial translation and has been shown to be associated with a spectrum of phenotypes, including early onset optic atrophy, progressive encephalomyopathy, peripheral neuropathy, and spastic paraparesis
  • involved in mitochondrial translation
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) COFD7 , SPG55 , BEHRS2
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS