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FLASH GENE
Symbol TMEM126A contributors: shn - updated : 19-04-2013
HGNC name transmembrane protein 126A
HGNC id 25382
Corresponding disease
OPA7 optic atrophy 7
Location 11q14.1      Physical location : 85.358.962 - 85.367.596
Synonym symbol(s) DKFZp586C1924
DNA
TYPE functioning gene
STRUCTURE 8.64 kb     5 Exon(s)
MAPPING cloned Y linked N status provisional
Map cen - D11S4147 - D11S1354 - TMEM126A - D11S4197 - D11S1887 - qter
RNA
TRANSCRIPTS type messenger
text is a mitochondrial located mRNA (MLR) PMID:23500070
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
5 - 818 21.4 195 - -
EXPRESSION
Rna function mRNAs are strongly enriched in the vicinity of mitochondria and may be translated in the mitochondrial surface
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinethyroid   lowly Homo sapiensAdultNM_032273
Lymphoid/Immunethymus   lowly Homo sapiensAdultNM_032273
Nervousbrain   moderately Homo sapiensAdultNM_032273
 brainhindbraincerebellum moderately Homo sapiensAdultNM_032273
 brain   moderately Homo sapiensFetalNM_032273
Reproductivemale systemtestis  moderately Homo sapiensAdultNM_032273
Urinarykidney   lowly Homo sapiensAdultNM_032273
Visualeyeretina  moderately Homo sapiensAdultNM_032273
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatum  moderately Homo sapiensAdultNM_032273
cells
SystemCellPubmedSpeciesStageRna symbol
Visualamacrine cell Mus musculusAdultNM_025460
Visualbipolar cell Mus musculusAdultNM_025460
Visualcone photoreceptor Mus musculusAdultNM_025460
Visualepithelial cell Homo sapiensAdultNM_032273
Visualganglion cell Mus musculusAdultNM_025460
Visualhorizontal association cell Mus musculusAdultNM_025460
VisualMuller cell Mus musculusAdultNM_025460
Visualrod photoreceptor Mus musculusAdultNM_025460
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text brain
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a Pfam domain of unknown function
  • four transmembrane domains
  • C- and N-terminal domains face the mitochondrial matrix
  • a non-cleavable internal mitochondrial targeting signal (MTS), aa5886, encompassing the second transmembrane domain
  • HOMOLOGY
    interspecies ortholog to Tmem126a, Rattus norvegicus
    ortholog to Tmem126a, Mus musculus
    ortholog to tmem126a, Danio rerio
    ortholog to TMEM126A, Pan troglodytes
    Homologene
    FAMILY
    CATEGORY
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    text strongly associated to the mitochondrial inner membrane close to the cristae
    basic FUNCTION
  • may be essential in the early nucleation process of large mitochondrial complexes
  • may be important to the assembly of a protein complex required for the function of retinal ganglion cells
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OPA7
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation     loss of function
    nonsense mutation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS