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FLASH GENE
Symbol TCN2 contributors: mct/npt - updated : 22-02-2010
HGNC name transcobalamin II; macrocytic anemia
HGNC id 11653
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies ortholog to murine Tcn2
homolog to C.elegans K07D4.6
Homologene
FAMILY
  • vitamin B12-binding protein family
  • eukaryotic cobalamin transport proteins family
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION extracellular
    text secreted
    basic FUNCTION
  • mediating the transport of cobalamin into cells
  • involved in uptake of vitamin B12 and cobalamin
  • plasma transport protein for cobalamin, that facilitates cellular uptake of cobalamin through receptor-mediated endocytosis of the Transcobalamin -cobalamin complex in peripheral tissues (Ratschmann 2009)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    text
  • vitamin B12 transporter
  • cobalt ion transport
    • PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to cobalamin (optimal binding of cobalamin by TCN2 is supported by disulfide bonds C98-C291 and C147-C187 and that their disruption results in loss of cobalamin binding and their rapid degradation by the proteasomal machinery)
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) TCN2
    Susceptibility to lower vitamin B12
    Variant & Polymorphism other 776G allele decreasing the transcription and cellular and plasma concentration of transcobalamin (vitamin B12)
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS