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TCN2 Gene

protein-coding   GIFtS: 62
GCID: GC22P031002

Transcobalamin II

(Previous name: transcobalamin II; macrocytic anemia)
  See TCN2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 fasciolopsiasis, and cicatricial ectropion. GO annotations related to this gene include cobalamin 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_011520.13  
Regulatory elements:
   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 Chromatin IP Primers for TCN2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TCO2_HUMAN, P20062 (See protein sequence)
Recommended Name: Transcobalamin-2 precursor  
Size: 427 amino acids; 47535 Da
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


See TCN2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

ENSEMBL proteins: 
 ENSP00000215838   ENSP00000411529   ENSP00000394184   ENSP00000385914   ENSP00000384914  
Reactome Protein details: P20062

TCN2 Human Recombinant Protein Products:

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antibodies-online proteins for TCN2 (9 products) 

 
antibodies-online peptides for TCN2

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antibodies-online kits for TCN2 (11 products) 


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:
 IPR002157 Cbl-bd_transpt_euk
 IPR027954 DUF4430
 IPR008930 Terpenoid_cyclase/PrenylTrfase

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


Find genes that share domains with TCN2           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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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:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0031419cobalamin binding IDA16537422
GO:0046872metal ion binding IEA--
     
Find genes that share ontologies with TCN2           About GenesLikeMe


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

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for TCN2

miRNA
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TCN2


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
TCO2_HUMAN, P20062: Secreted
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular5
plasma membrane2
cytosol1
endoplasmic reticulum1
lysosome1
mitochondrion1
nucleus1
peroxisome1

Gene Ontology (GO): 4 cellular component terms:    About this table

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

Find genes that share ontologies with TCN2           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for TCN2 About    
See pathways by source

SuperPathSelected contained pathways About (see all per SuperPath)
1Defective BTD causes biotidinase deficiency
Defective BTD causes biotidinase deficiency1.00
Metabolism of vitamins and cofactors1.00
Defective AMN causes hereditary megaloblastic anemia 11.00
Defective MMACHC causes methylmalonic aciduria and homocystinuria type cblC1.00
Defective MMAA causes methylmalonic aciduria type cblA1.00
Defective MUT causes methylmalonic aciduria mut type1.00
Defective CD320 causes methylmalonic aciduria1.00
Defects in cobalamin (B12) metabolism1.00
2One carbon pool by folate
One Carbon Metabolism0.53
3Metabolism
Metabolism0.38
4Vitamin digestion and absorption
Vitamin digestion and absorption
5Disease
Disease


Find genes that share SuperPaths with TCN2           About GenesLikeMe

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways


1 BioSystems Pathway for TCN2
    One Carbon Metabolism


3 Reactome Pathways for TCN2
    Defective TCN2 causes hereditary megaloblastic anemia
Defective CD320 causes methylmalonic aciduria
Cobalamin (Cbl, vitamin B12) transport and metabolism


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

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TCN2
Interactions:

    GeneGlobe Interaction 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
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Gene Ontology (GO): Selected biological process terms (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--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

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

Selected 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)



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(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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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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  QuantiFast Probe-based Assays in human, mouse, rat TCN2

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 

Selected AceView cDNA sequences (see all 180):

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

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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TCN2 expression in normal human tissues (normalized intensities)
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
 selected tissues (see all 5) fully expand
 
 Kidney (Urinary System)    fully expand to see all 6 entries
         Loop of Henle Cells Loop of Henle
         Metanephros
 
 Epithelial Cells
         Loop of Henle Cells Loop of Henle
 
 Intermediate Mesoderm (Gastrulation Derivatives)
         Mesonephros
 
 Blood (Hematopoietic System)
         Monocytes Peripheral Blood
 
 Brain (Nervous System)
         Myelinating Oligodendrocyte Cells Forebrain White Matter
TCN2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

TCN2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.417948
    Custom PCR Arrays for TCN2
Primer
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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)
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This gene was present in the common ancestor of chordates.

Orthologs for TCN2 gene from Selected 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 56.02(n)
43.75(a)
  429737  XM_427292.4  XP_427292.3 
lizard
(Anolis carolinensis)
Reptilia TCN26
transcobalamin II
39(a)
1 ↔ 1
GL343417.1(183668-188487)
tropical clawed frog
(Xenopus tropicalis)
Amphibia tcn21 transcobalamin II 51.36(n)
43.92(a)
  496768  NM_001197106.1  NP_001184035.1 
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)
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Paralogs for TCN2 gene
TCN12  GIF2  

Find genes that share paralogs with TCN2           About GenesLikeMe



(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Polymorphic Variants from UniProtKB/Swiss-Prot
TCO2_HUMAN, P20062: Pro/Arg-259 polymorphism affects TCN2 plasma concentration and may interfere in vitamin B(12)
cellular availability and homocysteine metabolism


Selected SNPs for TCN2 (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
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--------
rs1832533611,2
--14923948(+) CTACCC/TTGGGG 2 -- us2k10--------
rs1151904571,2
C,F--14924096(+) AGAGGG/CTTGGG 2 -- us2k11Minor allele frequency- C:0.05WA 118

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

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(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.)
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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

  • 19 diseases for TCN2:    
    About MalaCards
    fasciolopsiasis    cicatricial ectropion    transcobalamin ii deficiency    macrocytic anemia
    vitamin b12 deficiency    typhus    homocysteine plasma level    cblf
    pancytopenia    pernicious anemia    scrub typhus    typhoid fever
    methylmalonic acidemia    homocystinuria    ectropion    cerebral malaria
    colon adenocarcinoma    neural tube defects    malaria

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

    Find genes that share disorders with TCN2           About GenesLikeMe

    Selected 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)
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    PubMed articles for TCN2 gene, integrated from 10 sources (see all 206):
    (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. (J. Biol. Chem. 1991)
    2. The cloning and characterization of the human transcobalamin II gene. (PubMed id 7742531)1, 2, 3, 9 Regec A.... Rothenberg S.P. (Blood 1995)
    3. Association of homocysteine (but not of MTHFR 677 C&gt;T, MTR 2756 A&gt;G, MTRR 66 A&gt;G and TCN2 776 C&gt;G) with ischaemic cerebrovascular disease in Sicily. (PubMed id 16894458)1, 4, 7, 9 Bosco P....GuAcant J.L. (Thromb. Haemost. 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 AlAcssio A.C....Annichino-Bizzacchi J.M. (Thromb. Res. 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. (Blood 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. (Birth Defects Res. Part A Clin. Mol. Teratol. 2005)
    7. Environmental influence on the worldwide prevalence of a 776C-&gt;G variant in the transcobalamin gene (TCN2). (PubMed id 17220211)1, 4, 9 GuAcant J.L....Namour F. (J. Med. Genet. 2007)
    8. Survey and biological insights of pemetrexed-related therapeutic improvement in mesothelioma: The Nancy Centre of Biological Resources' Mesothelioma Cohort. (PubMed id 19546821)1, 4, 9 Vlastos F....Martinet N. (J Thorac Oncol 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. (Sao Paulo Med J 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. (Hum. Mutat. 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
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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)
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    Entrez Gene: 6948 HGNC: 11653 AceView: TCN2 Ensembl:ENSG00000185339 euGenes: HUgn6948
    ECgene: TCN2 Kegg: 6948 H-InvDB: TCN2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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.)
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    Patent Information for TCN2 gene:
    Search GeneIP for patents involving TCN2

    GeneCards and IP:
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