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

TCN2 Gene

protein-coding   GIFtS: 61
GCID: GC22P031002

transcobalamin II

(Previous name: transcobalamin II; macrocytic anemia )
 Explore 65 diseases affiliated with
TCN2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TCN2    

Aliases
for TCN2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Transcobalamin II1 2 3     TC II2 3
TC21 2 3 5     II2
D22S6761 2     TC2
D22S7501 2     Macrocytic Anemia2
Transcobalamin II; Macrocytic Anemia1 2     Transcobalamin-21
TC-22 3     Vitamin B12-Binding Protein 22
TCII2 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


Summaries
for TCN2 gene

(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:
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)

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




Genomic Views
for TCN2 gene

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  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 plasmid: TCN2 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

Proteins
for TCN2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P20062

    • TCN2 Protein expression data from MOPED and PaxDb:    About this image 
    TCN2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000346.2  NP_001171655.1  

    ENSEMBL proteins: 
     ENSP00000215838   ENSP00000411529   ENSP00000394184   ENSP00000385914   ENSP00000384914  

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    OriGene Protein Over-expression Lysate (see all 2): TCN2
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    Novus Biologicals TCN2 Proteins
    Novus Biologicals TCN2 Lysates
    Sino Biological Recombinant Protein for TCN2
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TCN2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005615extracellular space TAS1708393

    TCN2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for TCN2

    Protein Domains /
    Families
    for TCN2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TCN2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR002157 Cbl-bd_transpt_euk

    Graphical View of Domain Structure for InterPro Entry P20062

    ProtoNet protein and cluster: P20062

    1 Blocks protein family: IPB002157 Eukaryotic cobalamin-binding protein

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


    Function
    for TCN2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 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 - Customizable classic, inducible, and humanized mouse model solutions for TCN2 

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: TCN2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TCN2 (see all 7)
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    Gene Editing
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    Clone
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for TCN2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Vitamin digestion and absorption
    		Vitamin digestion and absorption1.00
    2One Carbon Metabolism
    		One Carbon Metabolism1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for TCN2 
        One Carbon Metabolism


    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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006824cobalt ion transport IEA--
    GO:0009235cobalamin metabolic process IBA--
    GO:0015889cobalamin transport IEA--

    TCN2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for TCN2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 

    Transcripts
    for TCN2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmid: TCN2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TCN2 (see all 7)
    OriGene shRNA RFP: TCN2
    OriGene siRNA: TCN2
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    Sirion Biotech Custom design and validation of potent shRNA sequences against TCN2 
    Clone
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    Additional cDNA 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):

    CD672244 NM_000355 BI916813 AL040870 CR604069 BE855856 BQ679837 AU122683 
    CR607717 BQ881415 BX395297 BU185449 BC001176 BX345241 BM708955 CR590469 
    BP346761 CR456591 BC011239 BM977935 AV708225 BU196466 AI570511 BE466088 

    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

    Expression
    for TCN2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAGCATCTCA
    TCN2 Expression
    About this image

    TCN2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    7 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyLoop of HenleLoop of Henle CellsKidney
    KidneyProximal TubuleProximal Tubule CellsKidney
    KidneyEpithelial TubuleKidney
    KidneyLoop of HenleKidney
    KidneyMetanephrosKidney
    KidneyProximal TubuleKidney
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Human kidney epithelial cell spheroids (Kidney spheroids for...)

    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
    for TCN2 gene

    (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 4/12 species (see all 12)    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
    		 --
    		 42(a)
    		 1 ↔ 1
    		 GL343417.1(185370-188049)
    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
    for TCN2 gene

    (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



    Genomic Variants
    for TCN2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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


    10/714 NCBI SNPs in TCN2 are shown (see all 714)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 22 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs344713691,2
    		C,F--13964425(+) TCAATC/TTCATT 2 -- us2k11Minor allele frequency- T:0.20NA 120
    rs750737321,2
    		F--13964433(+) ATTCTT/CTTTAT 2 -- us2k11Minor allele frequency- C:0.06WA 118
    rs1137677421,2
    		--13965060(+) GCTAGG/TTGGGC 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs169888231,2
    		--13965295(+) TCCAGA/GAGGGC 2 -- ut510--------
    rs790831591,2
    		F--13965320(+) TTCCTC/TTGTTC 2 -- ut511Minor allele frequency- T:0.06WA 118
    rs725565741,2
    		F--13966218(+) CCTTCG/AGAGGT 2 -- int15Minor allele frequency- A:0.01MN 408
    rs725565721,2
    		F--13966233(+) CCTGCT/ACCAGC 2 -- int15Minor allele frequency- A:0.01MN 408
    rs57532321,2
    		H--13966293(+) TGAGTC/GTGAGC 2 -- int14Minor allele frequency- G:0.00NS EA 420
    rs725565751,2
    		F--13966361(+) TGGGCC/TGCCCA 2 -- int15Minor allele frequency- T:0.01MN 408
    rs725565731,2
    		F--13966583(+) AGCCTC/TGTTTG 2 -- int15Minor allele frequency- T:0.01MN 404

    HapMap Linkage Disequilibrium report for TCN2 (31002825 - 31023265 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TCN2: --
    Human Gene Mutation Database (HGMD): TCN2

    Locus Specific Mutation Databases (LSDB): TCN2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TCN2
    DNA2.0 Custom Variant and Variant Library Synthesis for TCN2

    Disorders / Diseases
    for TCN2 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TCN2 for disorders           About GeneDecksing

    OMIM gene information: 613441   
    OMIM disorders: 275350  
    UniProtKB/Swiss-Prot: TCO2_HUMAN, P20062
  • Defects in TCN2 are the cause of transcobalamin II deficiency (TCN2 deficiency) [MIM:275350]. This results in
    • various forms of anemia

    20/65 diseases for TCN2 (see all 65):    About MalaCards
    macrocytic anemia    transcobalamin ii deficiency    anemia    neural tube defect
    methylmalonic acidemia    methylmalonic acidemia with homocystinuria    homocysteine plasma level    methylmalonic aciduria and homocystinuria
    scrub typhus    central nervous system lymphoma    homocystinuria    abdominal aortic aneurysm
    typhus    fasciolopsiasis    aortic aneurysm    birth defects
    corpus callosum    pernicious anemia    spina bifida    orofacial cleft

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

    10/22 Novoseek 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

    Publications
    for TCN2 gene

    (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 200):
    (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. 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)
    4. 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)
    5. 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, 7, 9 Bosco P....Gueant J.L. (2006)
    6. Folate-related genes and omphalocele. (PubMed id 15937947)1, 4, 9 Mills J.L....Brody L.C. (2005)
    7. Population-based differences in frequency of the transcobalamin II Pro259Arg polymorphism. (PubMed id 14725943)1, 4, 9 Bowen R.A....Cole D.E. (2004)
    8. Effects of TCN2 776C>G on vitamin B, folate, and total homocysteine levels in kidney transplant patients. (PubMed id 15086930)1, 4, 9 Winkelmayer W.C....Sunder-Plassmann G. (2004)
    9. Isolation and sequence analysis of variant forms of human transcobalamin II. (PubMed id 8439564)1, 2, 9 Li N....Seetharam B. (1993)
    10. 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, 7 Alessio A.C....Annichino-Bizzacchi J.M. (2007)

    External Searches for TCN2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing TCN2 gene

    (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

    Other Databases showing TCN2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TCN2 gene

    (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/

    Intellectual Property
    for TCN2 gene

    (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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