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FLASH GENE
Symbol TMX2 contributors: mct/npt - updated : 11-12-2019
HGNC name thioredoxin-related transmembrane protein 2
HGNC id 30739
Corresponding disease
PMGMS polymicrogyria, microcephaly and seizures
Location 11q12.1      Physical location : 57.480.041 - 57.508.444
Synonym name
  • thioredoxin domain containing 14
  • protein disulfide isomerase family A, member 12
  • proliferation-inducing gene 26 protein
  • growth-inhibiting gene 11
  • Synonym symbol(s) CGI-31, PIG26, MGC111151, DKFZp781O2021, TXNDC14, PDIA12
    DNA
    TYPE functioning gene
    STRUCTURE 28.45 kb     8 Exon(s)
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    8 - 1686 - 296 - 2012 22045338
  • most biologically relevant as an ER resident protein
  • 7 - 1578 - 258 - 2012 22045338
    8 - 1842 - 202 - 2012 22045338
    8 - 1813 - 209 - 2012 22045338
    8 - 1792 - 202 - 2012 22045338
    8 - 1736 - 303 - 2012 22045338
    8 - 1704 - 231 - 2012 22045338
    8 - 1631 - 268 - 2012 22045338
    8 - 1692 - 227 - 2012 22045338
    8 - 1769 - 202 - 2012 22045338
    EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveintestinesmall intestine   
     mouthtongue   
    Lymphoid/Immunethymus    
    Reproductivemale systemprostate   
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow   
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • an N-terminal signal peptide
  • a potential transmembrane domain
  • one Trx-like domain with an unusual catalytic motif, SNDC instead of CXXC, and is therefore thought to be inactive in terms of oxidoreductase activity (Sugiura 2010)
  • an Myb DNA-binding domain repeat signature
  • an ER-targeting signal sequence,
  • an endoplasmic reticulum (ER) membrane retention signal (KKXX-like motif)
  • a dileucine motif in the tail
  • HOMOLOGY
    interspecies homolog to rattus Tmx2
    Homologene
    FAMILY
  • thioredoxin superfamily, thioredoxin family protein
  • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,cytoplasm,cytoskeleton
    intracellular,nucleus
    intracellular,nuclear envelope,ext
    text
  • localizes to the ER mitochondria-associated membranes (MAMs)
  • TMX2 localizes in the outer nuclear membrane with its N-terminus and C-terminus facing the cytoplasm
  • basic FUNCTION
  • thought to be redox-inactive (Sugiura 2010)
  • TMX2 works as a regulator of protein nuclear transport, and TMX2 facilitates the nucleocytoplasmic RAN cycle by interaction with nuclear pore proteins
  • is a sensor in the mitochondria-associated membranes (MAMs)-regulated redox signaling pathway
  • key molecule in the ER-mitochondrial redox regulation of brain development
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS electron transport
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PMGMS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS