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FLASH GENE
Symbol TCN2 contributors: mct/npt - updated : 22-02-2010
HGNC name transcobalamin II; macrocytic anemia
HGNC id 11653
Corresponding disease
TCN2 transcobalamin II deficiency
Location 22q12.2      Physical location : 31.003.069 - 31.023.047
Synonym symbol(s) TC2, D22S676, D22S750
DNA
TYPE functioning gene
STRUCTURE 19.89 kb     9 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked Y status confirmed
Physical map
MTMR3 22q12.2 myotubularin related protein 3 LOC391326 22 similar to h2-calponin MGC26710 22q12.2 hypothetical protein MGC26710 LIF 22q12.2 leukemia inhibitory factor (cholinergic differentiation factor) OSM 22q12.2 oncostatin M TBC1D10 22q12.1-qter TBC1 domain family, member 10 SF3A1 22q12.1 splicing factor 3a, subunit 1, 120kDa LOC388891 22 similar to hypothetical protein 4930562D19 LOC200312 22q12.2 similar to RIKEN cDNA 0610009J22 SEC14L2 22q12.2 SEC14-like 2 (S. cerevisiae) HSPC242 22q hypothetical protein HSPC242 LOC391327 22 similar to solute carrier family 39 (zinc transporter), member 1; zinc-iron regulated transporter-like gene; solute carrier family 39 (zinc transporter), member 3; zinc/iron regulated transporter-like SEC14L3 22q12.2 SEC14-like 3 (S. cerevisiae) LOC376844 SEC14L4 22q12.1 SEC14-like 4 (S. cerevisiae) PTPNS1L 22q12.2 protein tyrosine phosphatase, non-receptor type substrate 1-like CST 22q12.2 protein tyrosine phosphatase, non-receptor type substrate 1-like PES1 22q12.2 pescadillo homolog 1, containing BRCT domain (zebrafish) TCN2 22q12.2 transcobalamin II; macrocytic anemia SLC35E4 22q12.2 solute carrier family 35, member E4 LOC391328 22 similar to tum- transplantation antigen P198 DUSP18 22q12.1 dual specificity phosphatase 18 OSBP2 22q12.2 oxysterol binding protein 2 FLJ35801 22q12.2 hypothetical protein FLJ35801 ZCWCC1 22q12.2 zinc finger, CW-type with coiled-coil domain 1 FLJ20618 22q12.2 hypothetical protein FLJ20618 LOC388893 22 LOC388893 SMTN 22q12.2 smoothelin SELM 22q12.2 selenoprotein SelM PIB5PA 22q12.2 phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A PLA2G3 22q11.2-q13.2 phospholipase A2, group III FLJ38628 22q12.3 hypothetical protein FLJ38628 AGTRL2 22q12.2 angiotensin II receptor-like 2 LIMK2 22q12.2 LIM domain kinase 2 PPP1R14BP1 22q12 protein phosphatase 1, regulatory (inhibitor) subunit 14B pseudogene 1 MGC17330 22q12.2 HGFL gene ZNF278 22q12.2 zinc finger protein 278 MGC15705 22q12.3 hypothetical protein MGC15705
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
9 - 1987 - 427 - Regec (1995)
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen   highly
Endocrineadrenal gland   highly
 pancreas    
Reproductivefemale systemplacenta  highly
Respiratorylung    
Urinarykidney    
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / hematopoieticbone marrow  highly
Epithelialsecretoryglandularendocrine 
Epithelialsecretoryglandularexocrine 
cell lineage
cell lines
fluid/secretion plasma
at STAGE
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