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Aliases & Descriptions for TCN2
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| D22S676 1, 2 | | D22S750 1, 2 | | TC-2 3 | | TC2 1, 2, 3, 5 | | TCII 3 |
| | | Descriptions |
|---|
| TC II 3 | | Transcobalamin II 2, 3 | | transcobalamin II; macrocytic anemia 2 |
|
| | Search outside databases for aliases for TCN2 genePrevious GC identifer: GC22P027699 |
Summaries for TCN2(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene 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. [provided by RefSeq] UniProtKB/Swiss-Prot: TCO2_HUMAN, P20062Function: Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells |
Genomic Location for TCN2
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the TCN2 gene 
Entrez Gene cytogenetic band: 22q12.2 Ensembl cytogenetic band: 22q12.2 HGNC cytogenetic band: 22q12.2TCN2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 22 GeneLoc Exon Structure GeneLoc location for GC22P029327:
(about GC identifiers)
Start:
|
29,333,139 bp from pter |
End:
|
29,353,047 bp from pter |
Size:
|
19,909 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000022.9 NT_011520.11
| Proteins for TCN2
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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
PDB structures from and Proteopedia :2BB5 (3D)
 
Secondary accessions: Q9BVI8 Q9UCI5 Q9UCI6 Q9UDM0REFSEQ proteins: NP_000346.2
ENSEMBL proteins: ENSP00000385914 ENSP00000384914 ENSP00000215838
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for TCN2: Assays for TCN2: | Protein
Domains/ Families for TCN2(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, P20062Similarity: Belongs to the eukaryotic cobalamin transport proteins family | Gene Function for TCN2
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000355
Applied Biosystems Silencer® siRNAs for TCN2
Sigma-Aldrich siRNA and siRNA Panels for TCN2  Sigma-Aldrich shRNA for TCN2  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000355                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000355                                  untagged cDNA clones in CMV expression vector (see all 2): NM_000355 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000355
UniProtKB/Swiss-Prot: TCO2_HUMAN, P20062Function: Primary vitamin B12-binding and transport protein. Delivers cobalamin to cellsGenatlas biochemistry entry for TCN2:transcobalamin II,plasma protein vitamin B12 binding3 Gene Ontology (GO) molecular function terms (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0015087 | cobalt ion transmembrane transporter activity |
IEA | -- | | GO:0031419 | cobalamin binding |
IEA | -- | | GO:0050897 | cobalt ion binding |
IEA | -- | About this table | Pathways & Interactions for TCN2
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
Gene Network CentralTM Interacting Genes and Proteins Network for TCN2 
5/11 Interacting proteins for TCN2 (ENSP000002158383) via UniProtKB, MINT, and/or STRING (see all 11
)About this table
3 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for TCN2(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Browse Tocris compounds for TCN2 5 Novoseek chemical compound relationships for TCN2 gene
About this table
|
Transcripts for TCN2(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000355
Sigma-Aldrich siRNA and siRNA Panels for TCN2  Sigma-Aldrich shRNA for TCN2  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000355 REFSEQ mRNAs for TCN2 gene: NM_000355.2
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000355               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000355                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000355                                  untagged cDNA clones in CMV expression vector (see all 2): NM_000355  Additional cDNA sequence: AK225445.1 AK313711.1 BC001176.1 BC011239.1 CR456591.1 CR590469.1 CR604069.1 CR607717.1 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
):BU185449 NM_000355 CD672244 CR590469 BM708955 AI570511 AU122683 BU196466 BC001176 BX345241 AL040870 BC011239 BQ679837 BE855856 CR604069 BI916813 BX395297 AV708225 CR607717 BM977935 CR456591 BQ881415 BP346761 BF439265
highest scoring ESTs for TCN2:L02648 AA069209 AA196511 AA205596 AA453855 AA490459 AA612821 AA862710 AA902116 AA936072 Unigene Cluster for TCN2: Transcobalamin II; macrocytic anemia Hs.417948 [show with all ESTs]Unigene Representative Sequence: AK225445
GeneLoc Exon Structure
2 Alternative Splicing Database (ASD) splice patterns (SP) for TCN2
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | |
| SP1: | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |   | |
| SP2: | |   | |   | |   | |   | - |   | |   | |   | |   | |   | |   | |   | |   |
About this scheme
ECgene alternative splicing isoforms for TCN2
3 Ensembl transcripts including schematic representations: ENST00000405742
ENST00000407817
ENST00000215838
|
Expression for TCN2
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| TCN2 expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for TCN2
1 / 2 / 3 4 probe-sets matching TCN2 gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: AAGCATCTCA
SOURCE GeneReport for Unigene cluster: Hs.417948
Expression variation in blood from EXPOLDB for TCN2 |
Orthologs for TCN2
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for TCN2 gene from 5/6 species (see all 6
)
About this table Species with no ortholog for TCN2
ENSEMBL Gene Tree for TCN2 | Paralogs for TCN2(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for TCN2 gene
- TCN12 GIF2
|
SNPs/Variants for TCN2(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
| UniProtKB/Swiss-Prot: TCO2_HUMAN, P20062Polymorphism: Pro/Arg-259 polymorphism affects TCN2 plasma concentration and may interfere in vitamin B(12) cellular availability and homocysteine metabolism
HapMap Linkage Disequilibrium images for TCN2 (up to first 250kb)
|
Disorders & Mutations for TCN2
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 275350 UniProtKB/Swiss-Prot: TCO2_HUMAN, P20062
Defects in TCN2 are the cause of transcobalamin II deficiency [MIM:275350]. This results in various forms of anemia10/21 Novoseek disease relationships for TCN2 gene (see all 21
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| transcobalamin ii deficiency |
97.74 |
18 |
8362900 (3), 7741573 (2), 17993636 (2), 7980584 (1) (see all 14) |
| anemia megaloblastic |
83.46 |
8 |
8978297 (1), 2333586 (1), 7742531 (1), 12436132 (1) (see all 7) |
| methylmalonic aciduria |
70.99 |
3 |
1909779 (1), 2309761 (1), 10518276 (1) |
| vitamin b12 deficiency |
62.23 |
2 |
7849710 (1) |
| neural tube defects |
56.04 |
2 |
15782407 (1), 11259691 (1) |
| homocystinuria |
54.48 |
1 |
2309761 (1) |
| hemoglobinuria |
53.70 |
6 |
7622977 (4), 8708525 (1) |
| typhus |
52.45 |
2 |
7622977 (1), 15906652 (1) |
| malaria cerebral |
44.47 |
1 |
7759977 (1) |
| azotemia |
39.06 |
5 |
7673805 (1), 8525419 (1) |
About this table
Genatlas disease: TCN2 anemia,megalobastic,severe with thrombocytopenia and neutropenia,methylmalonic acidemia and homocystinuria Human Gene Mutation Database: TCN2 Genetic Association Database: TCN2 Human Genome Epidemiology Navigator: TCN2 (34 documents)
|
Medical News for TCN2(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for TCN2 (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/150 PubMed articles for TCN2 gene (see all 150
):- 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, 4 Platica O....Rothenberg S.P. (1991)
- The cloning and characterization of the human transcobalamin II gene. (PubMed id 7742531)1, 2, 3, 4 Regec A....Rothenberg S.P. (1995)
- Functional human transcobalamin II isoproteins are secreted by insect cells using the baculovirus expression system. (PubMed id 8443384)1, 3, 4 Quadros E.V.... Rothenberg S.P. (1993)
- Evaluation of transcobalamin II polymorphisms as neural tube defect risk factors in an Irish population. (PubMed id 15782407)1, 3, 6 Swanson D.A....Brody L.C. (2005)
- Folate-related genes and omphalocele. (PubMed id 15937947)1, 3, 6 Mills J.L....Brody L.C. (2005)
- Population-based differences in frequency of the transcobalamin II Pro259Arg polymorphism. (PubMed id 14725943)1, 3, 6 Bowen R.A....Cole D.E. (2004)
- Effects of TCN2 776C>G on vitamin B, folate, and total homocysteine levels in kidney transplant patients. (PubMed id 15086930)1, 3, 6 Winkelmayer W.C....Sunder-Plassmann G. (2004)
- Isolation and sequence analysis of variant forms of human transcobalamin II. (PubMed id 8439564)1, 3, 4 Li N....Seetharam B. (1993)
- A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)3, 4 Collins J.E.... Dunham I. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
|
Search for TCN2
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing TCN2
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing TCN2
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TCN2(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| TCN2base | http://bioinf.uta.fi/TCN2base/ |
|
| | | About This Section
| --
| Services for TCN2(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for TCN2:

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Incremental update: 13 Oct 2009
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