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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TCN2 Gene

protein-coding   GIFtS: 64
GCID: GC22P031002

Transcobalamin II

(Previous name: transcobalamin II; macrocytic anemia)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Transcobalamin II1 2 3     D22S6762
TC22 3 5     D22S7502
Transcobalamin II; Macrocytic Anemia1 2     II2
Macrocytic Anemia1 2     TC2
TC-22 3     transcobalamin-22
TCII2 3     Vitamin B12-Binding Protein 22
TC II2 3     

External Ids:    HGNC: 116531   Entrez Gene: 69482   Ensembl: ENSG000001853397   OMIM: 6134415   UniProtKB: P200623   

Export aliases for TCN2 gene to outside databases

Previous GC identifers: GC22P027699 GC22P029327 GC22P013965


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TCN2 Gene:
This gene encodes a member of the vitamin B12-binding protein family. This family of proteins, alternatively
referred to as R binders, is expressed in various tissues and secretions. This plasma protein binds cobalamin and
mediates the transport of cobalamin into cells. This protein and other mammalian cobalamin-binding proteins, such
as transcobalamin I and gastric intrisic factor, may have evolved by duplication of a common ancestral gene.
Alternative splicing results in multiple transcript variants.(provided by RefSeq, May 2010)

GeneCards Summary for TCN2 Gene: 
TCN2 (transcobalamin II) is a protein-coding gene. Diseases associated with TCN2 include vitamin b12 deficiency, and methylmalonic acidemia with homocystinuria, and among its related super-pathways are Metabolism of water-soluble vitamins and cofactors and One carbon pool by folate. GO annotations related to this gene include cobalamin binding and metal ion binding. An important paralog of this gene is TCN1.

UniProtKB/Swiss-Prot: TCO2_HUMAN, P20062
Function: Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.2  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the TCN2 gene promoter:
         AML1a   GATA-3   p53   LCR-F1   GATA-2   GATA-1   E47   NRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTCN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for TCN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TCN2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12.2

TCN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TCN2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P031002:  view genomic region     (about GC identifiers)

Start:
31,002,825 bp from pter      End:
31,023,265 bp from pter
Size:
20,441 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: TCO2_HUMAN, P20062 (See protein sequence)
Recommended Name: Transcobalamin-2 precursor  
Size: 427 amino acids; 47535 Da
Subcellular location: Secreted
1 PDB 3D structure from and Proteopedia for TCN2:
2BB5 (3D)    
Secondary accessions: Q96FD4 Q9BVI8 Q9UCI5 Q9UCI6 Q9UDM0
Alternative splicing: 2 isoforms:  P20062-1   P20062-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TCN2: NX_P20062

Explore proteomics data for TCN2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P20062

  • TCN2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    TCN2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000346.2  NP_001171655.1  

    ENSEMBL proteins: 
     ENSP00000215838   ENSP00000411529   ENSP00000394184   ENSP00000385914   ENSP00000384914  
    Reactome Protein details: P20062
    Human Recombinant Protein Products for TCN2: 
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    Novus Biologicals TCN2 Proteins
    Novus Biologicals TCN2 Lysates
    Sino Biological Recombinant Protein for TCN2
    Sino Biological Cell Lysate for TCN2 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for TCN2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space TAS1708393
    GO:0005768endosome TAS--
    GO:0043202lysosomal lumen TAS--

    TCN2 for ontologies           About GeneDecksing



    TCN2 Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for TCN2 

    Assay Products for TCN2: 
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    Cloud-Clone Corp. CLIAs for TCN2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR002157 Cbl-bd_transpt_euk

    Graphical View of Domain Structure for InterPro Entry P20062

    ProtoNet protein and cluster: P20062

    1 Blocks protein domain: IPB002157 Eukaryotic cobalamin-binding protein

    UniProtKB/Swiss-Prot: TCO2_HUMAN, P20062
    Similarity: Belongs to the eukaryotic cobalamin transport proteins family


    TCN2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TCO2_HUMAN, P20062
    Function: Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells

         Genatlas biochemistry entry for TCN2:
    transcobalamin II,plasma protein vitamin B12 binding

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031419cobalamin binding IDA16537422
    GO:0046872metal ion binding IEA--
         
    TCN2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TCN2:
     Decreased Salmonella enterica  

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for TCN2 
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    miRNA
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    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for TCN2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors1.00
    Metabolism of vitamins and cofactors1.00
    2One Carbon Metabolism
    One Carbon Metabolism0.53
    3Metabolism
    Metabolism0.40
    4Vitamin digestion and absorption
    Vitamin digestion and absorption
    5Cobalamin (Cbl, vitamin B12) transport and metabolism
    Cobalamin (Cbl, vitamin B12) transport and metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for TCN2
        One Carbon Metabolism


    4        Reactome Pathways for TCN2
        Metabolism
    Cobalamin (Cbl, vitamin B12) transport and metabolism
    Metabolism of vitamins and cofactors
    Metabolism of water-soluble vitamins and cofactors


    1         Kegg Pathway  (Kegg details for TCN2):
        Vitamin digestion and absorption


    TCN2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TCN2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    3 Interacting proteins for TCN2 (P200623 ENSP000002158384) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629933I2D: score=2 
    PAXIP1Q6ZW493I2D: score=1 
    CBLENSP000002640334STRING: ENSP00000264033
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006766vitamin metabolic process TAS--
    GO:0006767water-soluble vitamin metabolic process TAS--
    GO:0006824cobalt ion transport IEA--
    GO:0009235cobalamin metabolic process TAS--
    GO:0015889cobalamin transport IEA--

    TCN2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TCN2 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TCN2 (TCO2)

    3 HMDB Compounds for TCN2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cobalamin5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole (see all 15)13408-78-1--
    CobaltCo (see all 6)7440-48-4--
    CyanocobalaminDimethylbenzimidazoylcobamide (see all 92)68-19-9--

    2 DrugBank Compounds for TCN2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    HydroxocobalaminHydroxomin (see all 2)13422-51-0carriersubstrate8487649 5126165 8415778 3338997 14585166 5488577
    CyanocobalaminCyanocob(III)alamin (see all 3)68-19-9transportersubstrate16820193 15640468 16894458 17068171 16047053

    10/17 Novoseek inferred chemical compound relationships for TCN2 gene (see all 17)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cobalamin 93.5 115 10878444 (4), 9176833 (4), 8983344 (4), 2309761 (3) (see all 45)
    vitamin b12 89.8 113 11259691 (4), 8213000 (3), 8172125 (3), 10518276 (3) (see all 48)
    methylmalonic acid 80.4 4 20082058 (3), 8626762 (1)
    methylcobalamin 78.4 1 8534962 (1)
    homocysteine 74.6 17 9176833 (5), 17220211 (1), 15086930 (1), 12911562 (1) (see all 10)
    hydroxocobalamin 73.7 7 8415778 (4), 8487649 (1)
    folate 73.3 24 9176833 (4), 18313425 (2), 19274320 (2), 15086930 (1) (see all 12)
    adenosylcobalamin 72.1 1 8534962 (1)
    corrinoid 70.1 1 9095356 (1)
    methionine 68.2 14 2070814 (1), 9587028 (1), 17164363 (1), 17449906 (1) (see all 12)

    Search CenterWatch for drugs/clinical trials and news about TCN2 / TCO2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for TCN2 gene (3 alternative transcripts): 
    NM_000355.3  NM_001184726.1  NM_001190420.1  

    Unigene Cluster for TCN2:

    Transcobalamin II
    Hs.417948  [show with all ESTs]
    Unigene Representative Sequence: AK225445
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000215838(uc003air.2 uc003aip.2) ENST00000423350 ENST00000450638
    ENST00000405742 ENST00000407817 ENST00000471659 ENST00000493542

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    Additional mRNA sequence: 

    AK225445.1 AK313711.1 BC001176.1 BC011239.1 CR456591.1 L02647.1 L02648.1 M60396.1 

    8 DOTS entries:

    DT.451827  DT.40129095  DT.75136777  DT.91829780  DT.100764218  DT.100769826  DT.100738154  DT.75120205 

    24/180 AceView cDNA sequences (see all 180):

    BX395297 BC001176 BE855856 CR607717 AI570511 AU122683 CR604069 BC011239 
    BQ679837 BU196466 AV708225 CR456591 BM977935 CD672244 NM_000355 BI916813 
    AL040870 BM708955 BX345241 BP346761 CR590469 BQ881415 BU185449 BV204312 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for TCN2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                                                                        
    SP2:                          -                                             


    ECgene alternative splicing isoforms for TCN2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TCN2 expression in normal human tissues (normalized intensities)      TCN2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGCATCTCA
    TCN2 Expression
    About this image


    TCN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Kidney (Urinary System)    fully expand to see all 11 entries
             Loop of Henle Cells Loop of Henle
             Proximal Tubule
             visceral organ/mesonephros of female/mesonephric mesenchyme of female mesonephros   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 5 entries
             visceral organ   
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Myelinating Oligodendrocyte Cells Forebrain White Matter
             Human Brain Vascular Pericyte (HBVP)   
     
     Intermediate Mesoderm (Gastrulation Derivatives)
             Mesonephros
     
     Testis (Reproductive System)

    See TCN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TCN2

    SOURCE GeneReport for Unigene cluster: Hs.417948
        SABiosciences Custom PCR Arrays for TCN2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCN2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for TCN2 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tcn21 , 5 transcobalamin 21, 5 78.06(n)1
    73.54(a)1
      11 (2.76 cM)5
    214521  NM_001130458.11  NP_001123930.11 
     39171925 
    chicken
    (Gallus gallus)
    Aves TCN21 transcobalamin II 54.41(n)
    42.06(a)
      429737  XM_427292.3  XP_427292.3 
    lizard
    (Anolis carolinensis)
    Reptilia TCN26
    transcobalamin II
    40(a)
    1 ↔ 1
    GL343417.1(183668-188487)
    zebrafish
    (Danio rerio)
    Actinopterygii tcn2l1 transcobalamin II, like 48.84(n)
    36.02(a)
      407646  NM_001123231.2  NP_001116703.1 


    ENSEMBL Gene Tree for TCN2 (if available)
    TreeFam Gene Tree for TCN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TCN2 gene
    TCN12  GIF2  

    TCN2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: TCO2_HUMAN, P20062
    Polymorphism: Pro/Arg-259 polymorphism affects TCN2 plasma concentration and may interfere in vitamin B(12)
    cellular availability and homocysteine metabolism


    10/895 SNPs in TCN2 are shown (see all 895)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs18011981,2,4
    C,F,A,Hnon-pathogenic114934155(+) CATGCC/GTGGGG 4 P R mis1 ese332Minor allele frequency- G:0.41EA MN NS NA WA CSA EU 9799
    VAR_0016384
    ----see VAR_0016382 M T mis40--------
    VAR_0016394
    ----see VAR_0016392 I L mis40--------
    rs718447111,2
    C--13974227(+) ATGTT-/TGGATGGATGGAT
    GGATGGATGGATGGA
    TGGAT
    2 -- int10--------
    rs121607481,2
    C--13982152(+) acacaC/Tatatg 2 -- int11Minor allele frequency- T:0.00NA 2
    rs57532281,2
    C,F,A--14923652(+) cctctC/Agatta 2 -- us2k19Minor allele frequency- A:0.47NA WA CSA EA 253
    rs57532291,2
    C,F,A--14923655(+) ctagaA/G/Ttagct 2 -- us2k110NA WA CSA EA 371
    rs1884653051,2
    --14923855(+) TGCTGC/TCTTCC 2 -- us2k10--------
    rs1916310631,2
    --14923889(+) GCACTA/GAGTCC 2 -- us2k10--------
    rs1997920561,2
    C--14923907(+) TAGGC-/AGGGGG 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for TCN2 (31002825 - 31023265 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for TCN2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1367588CNV Insertion17803354
    nsv829171CNV Loss20364138
    nsv834175CNV Gain17160897


    Human Gene Mutation Database (HGMD): TCN2

    Locus Specific Mutation Databases (LSDB): TCN2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing TCN2
    DNA2.0 Custom Variant and Variant Library Synthesis for TCN2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613441   
    OMIM disorders: 275350  
    UniProtKB/Swiss-Prot: TCO2_HUMAN, P20062
  • Transcobalamin II deficiency (TCN2 deficiency) [MIM:275350]: Results in various forms of anemia. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/66 diseases for TCN2 (see all 66):    About MalaCards
    vitamin b12 deficiency    methylmalonic acidemia with homocystinuria    macrocytic anemia    fasciolopsiasis
    cobalamin metabolism multi-gene panels    typhus    cblf    toxocariasis
    scrub typhus    pancytopenia    cerebral malaria    typhoid fever
    pernicious anemia    homocystinuria    methylmalonic acidemia    colon adenocarcinoma
    omphalocele    congenital heart defect    megaloblastic anemia    neural tube defects

    6 diseases from the University of Copenhagen DISEASES database for TCN2:
    Megaloblastic anemia     Chagas disease     Vitamin B12 deficiency     Pernicious anemia
    Fasciolopsiasis     Methylmalonic acidemia

    TCN2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/22 Novoseek inferred disease relationships for TCN2 gene (see all 22)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    transcobalamin ii deficiency 97.8 20 8362900 (3), 19581117 (2), 17993636 (2), 7741573 (2) (see all 15)
    anemia megaloblastic 84.8 9 8978297 (1), 2333586 (1), 7742531 (1), 12436132 (1) (see all 8)
    methylmalonic aciduria 69.4 3 1909779 (1), 2309761 (1), 10518276 (1)
    vitamin b12 deficiency 60.8 2 7849710 (1)
    neural tube defects 54.7 2 15782407 (1), 11259691 (1)
    homocystinuria 53 1 2309761 (1)
    hemoglobinuria 52.3 6 7622977 (4), 8708525 (1)
    typhus 51.1 2 7622977 (1), 15906652 (1)
    pancytopenia 47.1 2 2309761 (1)
    malaria cerebral 42.8 1 7759977 (1)

    Genatlas disease: TCN2
    anemia,megalobastic,severe with thrombocytopenia and neutropenia,methylmalonic acidemia and homocystinuria

    Genetic Association Database (GAD): TCN2
    Human Genome Epidemiology (HuGE) Navigator: TCN2 (58 documents)

    Export disorders for TCN2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for TCN2 gene, integrated from 9 sources (see all 205):
    (articles sorted by number of sources associating them with TCN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The cDNA sequence and the deduced amino acid sequence of human transcobalamin II show homology with rat intrinsic factor and human transcobalamin I. (PubMed id 1708393)1, 2, 3, 9 Platica O....Rothenberg S.P. (1991)
    2. The cloning and characterization of the human transcobalamin II gene. (PubMed id 7742531)1, 2, 3, 9 Regec A.... Rothenberg S.P. (1995)
    3. Association of homocysteine (but not of MTHFR 677 C>T, MTR 2756 A>G, MTRR 66 A>G and TCN2 776 C>G) with ischaemic cerebrovascular disease in Sicily. (PubMed id 16894458)1, 4, 7, 9 Bosco P....Gueant J.L. (2006)
    4. Polymorphism C776G in the transcobalamin II gene and homocysteine, folate and vitamin B12 concentrations. Association with MTHFR C677T and A1298C and MTRR A66G polymorphisms in healthy children. (PubMed id 16820193)1, 4, 7 Alessio A.C....Annichino-Bizzacchi J.M. (2007)
    5. Functional human transcobalamin II isoproteins are secreted by insect cells using the baculovirus expression system. (PubMed id 8443384)1, 2, 9 Quadros E.V.... Rothenberg S.P. (1993)
    6. Evaluation of transcobalamin II polymorphisms as neural tube defect risk factors in an Irish population. (PubMed id 15782407)1, 4, 9 Swanson D.A....Brody L.C. (2005)
    7. Environmental influence on the worldwide prevalence of a 776C->G variant in the transcobalamin gene (TCN2). (PubMed id 17220211)1, 4, 9 Gueant J.L....Namour F. (2007)
    8. Survey and biological insights of pemetrexed-related therapeutic improvement in mesothelioma: The Nancy Centre of Biological Resourc es' Mesothelioma Cohort. (PubMed id 19546821)1, 4, 9 Vlastos F....Martinet N. (2009)
    9. A80G polymorphism of reduced folate carrier 1 (RFC1) and C776G polymorphism of transcobalamin 2 (TC2) genes in Down's syndrome etiology. (PubMed id 19274320)1, 4, 9 Biselli J.M....Pavarino-Bertelli E.C. (2008)
    10. Study of four genes belonging to the folate pathway: transcobalamin 2 is involved in the onset of non-syndromic cleft lip with or without cleft palate. (PubMed id 16470748)1, 4, 9 Martinelli M....Carinci F. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 6948 HGNC: 11653 AceView: TCN2 Ensembl:ENSG00000185339 euGenes: HUgn6948
    ECgene: TCN2 Kegg: 6948 H-InvDB: TCN2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TCN2 Pharmacogenomics, SNPs, Pathways
    TCN2basehttp://bioinf.uta.fi/TCN2base/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for TCN2 gene:
    Search GeneIP for patents involving TCN2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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