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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
Corresponding disease
NBIA4 neurodegeneration with brain iron accumulation 4
SPG43 spastic paraplegia 43 autosomal recessive
Location 19q12      Physical location : 30.189.794 - 30.206.452
Synonym name
  • neurodegeneration with brain iron accumulation 4
  • spastic paraplegia 43
  • protein C19orf12
    • Synonym symbol(s) MGC10922, DKFZP762D096, NBIA4, NBIA3, SPG43
    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