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FLASH GENE
Symbol C19orf12 contributors: mct/shn - updated : 19-07-2013
HGNC name chromosome 19 open reading frame 12
HGNC id 25443
DNA
TYPE functioning gene
STRUCTURE 16.90 kb     4 Exon(s)
MAPPING cloned Y linked N status provisional
Map cen - D19S919 - D19S426 - C19orf12 - D19S433 - D19S405 - qter
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
3 - 4412 - 152 - 2011 21981780
3 - 4683 15 141 - 2011 21981780
4 splicing 4804 - - - -
non-coding RNA
2 splicing 4513 - - - -
non-coding RNA
2 splicing 4242 - - - -
non-coding RNA
3 splicing 4489 - 141 - -
3 splicing 4628 - 107 - -
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Cardiovascularvessel   highly
Reproductivefemale systemovary   
 female systemuteruscervix  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to 1600014C10Rik, Mus musculus
ortholog to zgc:112052, Danio rerio
ortholog to C19H19orf12, Pan troglodytes
Homologene
FAMILY
CATEGORY
SUBCELLULAR LOCALIZATION     plasma membrane
    intracellular
intracellular,cytoplasm,organelle,mitochondria
intracellular,cytoplasm,organelle,endoplasmic reticulum
text
  • localizes predominantly to mitochondria
  • co-localized closely with the ER marker calreticulin in COS7 cells, while in some other cells C19orf12 appeared to localize more to mitochondria
  • basic FUNCTION
  • possible role for C19orf12 in lipid homeostasis
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NBIA4 , SPG43
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    subcellular distribution alteration of C19orf12 in cells expressing a Myc-tagged C19orf12 containing the SPG43 mutation p.Ala63Pro. The mutant fusion protein is located throughout the cytoplasm in a majority of cells