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Aliases for TCN2 Gene

Aliases for TCN2 Gene

  • Transcobalamin II 2 3 4
  • TC2 3 4 6
  • Transcobalamin II; Macrocytic Anemia 2 3
  • Macrocytic Anemia 2 3
  • TC II 3 4
  • TC-2 3 4
  • TCII 3 4
  • Vitamin B12-Binding Protein 2 3
  • Transcobalamin-2 3
  • D22S676 3
  • D22S750 3
  • TC 3
  • II 3

External Ids for TCN2 Gene

Previous GeneCards Identifiers for TCN2 Gene

  • GC22P027699
  • GC22P029327
  • GC22P031002
  • GC22P013965

Summaries for TCN2 Gene

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 transcobalamin ii deficiency and transcobalamin deficiency. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include cobalamin binding. An important paralog of this gene is TCN1.

UniProtKB/Swiss-Prot for TCN2 Gene

  • Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCN2 Gene

Genomics for TCN2 Gene

Regulatory Elements for TCN2 Gene

Genomic Location for TCN2 Gene

Start:
30,606,838 bp from pter
End:
30,627,278 bp from pter
Size:
20,441 bases
Orientation:
Plus strand

Genomic View for TCN2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TCN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCN2 Gene

Proteins for TCN2 Gene

  • Protein details for TCN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P20062-TCO2_HUMAN
    Recommended name:
    Transcobalamin-2
    Protein Accession:
    P20062
    Secondary Accessions:
    • Q96FD4
    • Q9BVI8
    • Q9UCI5
    • Q9UCI6
    • Q9UDM0

    Protein attributes for TCN2 Gene

    Size:
    427 amino acids
    Molecular mass:
    47535 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for TCN2 Gene

    Alternative splice isoforms for TCN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TCN2 Gene

Proteomics data for TCN2 Gene at MOPED

Post-translational modifications for TCN2 Gene

No Post-translational modifications

Other Protein References for TCN2 Gene

Antibody Products

  • R&D Systems Antibodies for TCN2 (Transcobalamin II)

No data available for DME Specific Peptides for TCN2 Gene

Domains for TCN2 Gene

Suggested Antigen Peptide Sequences for TCN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P20062

UniProtKB/Swiss-Prot:

TCO2_HUMAN :
  • P20062
Family:
  • Belongs to the eukaryotic cobalamin transport proteins family.
genes like me logo Genes that share domains with TCN2: view

No data available for Gene Families for TCN2 Gene

Function for TCN2 Gene

Molecular function for TCN2 Gene

GENATLAS Biochemistry: transcobalamin II,plasma protein vitamin B12 binding
UniProtKB/Swiss-Prot Function: Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells

Gene Ontology (GO) - Molecular Function for TCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031419 cobalamin binding IDA 16537422
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TCN2: view

Phenotypes for TCN2 Gene

GenomeRNAi human phenotypes for TCN2:
genes like me logo Genes that share phenotypes with TCN2: view

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TCN2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TCN2 Gene

Localization for TCN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCN2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TCN2 Gene COMPARTMENTS Subcellular localization image for TCN2 gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytosol 1
endoplasmic reticulum 1
lysosome 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space TAS 1708393
GO:0005768 endosome TAS --
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with TCN2: view

Pathways for TCN2 Gene

SuperPathways for TCN2 Gene

Superpath Contained pathways
1 Defective BTD causes biotidinase deficiency
2 Disease
3 Metabolism
4 Vitamin digestion and absorption
5 One carbon pool by folate
genes like me logo Genes that share pathways with TCN2: view

Pathways by source for TCN2 Gene

Interacting Proteins for TCN2 Gene

Gene Ontology (GO) - Biological Process for TCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006766 vitamin metabolic process TAS --
GO:0006767 water-soluble vitamin metabolic process TAS --
GO:0006824 cobalt ion transport IEA --
GO:0009235 cobalamin metabolic process TAS --
GO:0015889 cobalamin transport IEA --
genes like me logo Genes that share ontologies with TCN2: view

Compounds for TCN2 Gene

(3) HMDB Compounds for TCN2 Gene

Compound Synonyms Cas Number PubMed IDs
Cobalamin
  • 5,6-dimethyl-1-a-D-ribofuranosylbenzimidazole
13408-78-1
Cobalt
  • Co
7440-48-4
Cyanocobalamin
  • Dimethylbenzimidazoylcobamide
68-19-9

(2) Drugbank Compounds for TCN2 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
Cyanocobalamin
  • Cyanocob(III)alamin
68-19-9 transporter substrate
Hydroxocobalamin
  • Hydroxomin
13422-51-0 carrier substrate

(17) Novoseek inferred chemical compound relationships for TCN2 Gene

Compound -log(P) Hits PubMed IDs
cobalamin 93.5 65
vitamin b12 89.8 66
methylmalonic acid 80.4 4
methylcobalamin 78.4 1
homocysteine 74.6 14
genes like me logo Genes that share compounds with TCN2: view

Transcripts for TCN2 Gene

Unigene Clusters for TCN2 Gene

Transcobalamin II:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TCN2

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TCN2 Gene

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

Relevant External Links for TCN2 Gene

GeneLoc Exon Structure for
TCN2
ECgene alternative splicing isoforms for
TCN2

Expression for TCN2 Gene

mRNA expression in normal human tissues for TCN2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TCN2 Gene

This gene is overexpressed in Kidney - Cortex (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TCN2 Gene

SOURCE GeneReport for Unigene cluster for TCN2 Gene Hs.417948

genes like me logo Genes that share expressions with TCN2: view

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for TCN2 Gene

Orthologs for TCN2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TCN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TCN2 35
  • 98.91 (n)
  • 98.13 (a)
TCN2 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TCN2 35
  • 79.22 (n)
  • 72.86 (a)
TCN2 36
  • 72 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TCN2 35
  • 82.31 (n)
  • 76.77 (a)
TCN2 36
  • 75 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tcn2 35
  • 78.06 (n)
  • 73.54 (a)
Tcn2 16
Tcn2 36
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TCN2 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TCN2 36
  • 47 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tcn2 35
  • 78.12 (n)
  • 74.64 (a)
chicken
(Gallus gallus)
Aves TCN2 35
  • 56.02 (n)
  • 43.75 (a)
TCN2 36
  • 36 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TCN2 36
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tcn2 35
  • 51.36 (n)
  • 43.92 (a)
zebrafish
(Danio rerio)
Actinopterygii tcn2l 35
  • 48.84 (n)
  • 36.02 (a)
tcn2l 36
  • 28 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 24 (a)
OneToMany
Species with no ortholog for TCN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TCN2 Gene

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

Paralogs for TCN2 Gene

Paralogs for TCN2 Gene

genes like me logo Genes that share paralogs with TCN2: view

Variants for TCN2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for TCN2 Gene

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

Sequence variations from dbSNP and Humsavar for TCN2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs1032 -- 30,626,823(+) GACTC(A/C)TTGGC utr-variant-3-prime
rs10418 -- 30,626,965(+) AGCTC(C/T)GAGCT utr-variant-3-prime
rs740233 -- 30,611,932(+) AGTGG(A/G)TGCAG intron-variant
rs740234 -- 30,612,758(-) AACTT(C/T)GATAA intron-variant
rs740235 -- 30,617,562(+) CAGAA(A/G)AGACG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TCN2 Gene

Variant ID Type Subtype PubMed ID
nsv829171 CNV Loss 20364138
nsv834175 CNV Gain 17160897
esv1367588 CNV Insertion 17803354

Relevant External Links for TCN2 Gene

HapMap Linkage Disequilibrium report
TCN2
Human Gene Mutation Database (HGMD)
TCN2
Locus Specific Mutation Databases (LSDB)
TCN2

Disorders for TCN2 Gene

(1) OMIM Diseases for TCN2 Gene (613441)

UniProtKB/Swiss-Prot

TCO2_HUMAN
  • 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.

(22) Novoseek inferred disease relationships for TCN2 Gene

Disease -log(P) Hits PubMed IDs
transcobalamin ii deficiency 97.8 20
anemia megaloblastic 84.8 8
methylmalonic aciduria 69.4 3
vitamin b12 deficiency 60.8 1
neural tube defects 54.7 2

Genatlas disease for TCN2 Gene

anemia,megalobastic,severe with thrombocytopenia and neutropenia,methylmalonic acidemia and homocystinuria

Relevant External Links for TCN2

Genetic Association Database (GAD)
TCN2
Human Genome Epidemiology (HuGE) Navigator
TCN2
genes like me logo Genes that share disorders with TCN2: view

Publications for TCN2 Gene

  1. The cDNA sequence and the deduced amino acid sequence of human transcobalamin II show homology with rat intrinsic factor and human transcobalamin I. (PMID: 1708393) Platica O. … Rothenberg S.P. (J. Biol. Chem. 1991) 2 3 4 23
  2. The cloning and characterization of the human transcobalamin II gene. (PMID: 7742531) Regec A. … Rothenberg S.P. (Blood 1995) 2 3 4 23
  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. (PMID: 16894458) Bosco P. … GuAcant J.L. (Thromb. Haemost. 2006) 3 23 25 48
  4. Isolation and sequence analysis of variant forms of human transcobalamin II. (PMID: 8439564) Li N. … Seetharam B. (Biochim. Biophys. Acta 1993) 3 4 23
  5. Functional human transcobalamin II isoproteins are secreted by insect cells using the baculovirus expression system. (PMID: 8443384) Quadros E.V. … Rothenberg S.P. (Blood 1993) 3 4 23

Products for TCN2 Gene

Sources for TCN2 Gene

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