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Aliases for TCN2 Gene

Aliases for TCN2 Gene

  • Transcobalamin 2 2 3 5
  • Transcobalamin II 2 3 4
  • Transcobalamin II; Macrocytic Anemia 2 3
  • Macrocytic Anemia 2 3
  • TC II 3 4
  • TC-2 3 4
  • TCII 3 4
  • TC2 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 2) is a Protein Coding gene. Diseases associated with TCN2 include Transcobalamin Ii Deficiency and Vitamin B12 Deficiency. Among its related pathways are Diseases of metabolism and Vitamin digestion and absorption. 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 CIViC summary , 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

Enhancers for TCN2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH22G030605 1.4 FANTOM5 ENCODE 17.9 +1.2 1233 5.5 PKNOX1 FOXA2 ARID4B SIN3A YY1 ZNF766 ZNF143 FOS ZNF263 SP5 TCN2 OSM SLC35E4 ENSG00000250318 SEC14L6 SMTN DUSP18 TBC1D10A CCDC157 SF3A1
GH22G030589 1.1 ENCODE 15.7 -15.4 -15439 2.8 PKNOX1 FOXA2 CREB3L1 ARNT WRNIP1 ARID4B SIN3A DMAP1 ZBTB7B YY1 TCN2 PES1 LINC01521 SLC35E4 ENSG00000223831 GAL3ST1
GH22G031052 1.3 Ensembl ENCODE 10 +448.1 448118 4.3 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 SELENOM INPP5J MORC2 TUG1 TCN2 PES1 ENSG00000223831 RNU6-1128P ENSG00000278920 RN7SL633P
GH22G030648 1.1 Ensembl ENCODE 11.4 +42.6 42636 1.4 PKNOX1 EGR1 ZNF366 FOS EGR2 SMARCC1 JUNB SMARCA4 IKZF1 KDM1A PES1 TCN2 ENSG00000223831 ENSG00000250318 GC22P030639
GH22G030634 1.3 FANTOM5 ENCODE 8.6 +29.2 29191 4.0 PKNOX1 ZFP64 SIN3A ZNF2 GLIS2 GATA2 ZNF143 ZNF207 FOS DEK SLC35E4 TCN2 PES1 OSM SMTN CCDC157 TBC1D10A DUSP18 SF3A1 GC22P030639
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TCN2 on UCSC Golden Path with GeneCards custom track

Promoters for TCN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000145237 -38 801 ELF3 HDAC1 NFRKB ARID4B SIN3A YY1 RELB SP5 USF2 REST

Genomic Location for TCN2 Gene

Chromosome:
22
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

Genes around TCN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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:
    • Interacts with CD320 (via LDL-receptor class A domains).

    Three dimensional structures from OCA and Proteopedia for TCN2 Gene

    Alternative splice isoforms for TCN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TCN2 Gene

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)
  • Abcam antibodies for TCN2

Protein Products

  • Abcam proteins for TCN2

No data available for DME Specific Peptides for TCN2 Gene

Domains & Families 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 :
  • Belongs to the eukaryotic cobalamin transport proteins family.
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:0005515 protein binding IPI 27411955
GO:0031419 cobalamin binding IDA 8443384
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TCN2: view
genes like me logo Genes that share phenotypes with TCN2: view

Human Phenotype Ontology for TCN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Inhibitory RNA Products

Clone Products

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

Localization for TCN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCN2 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TCN2 gene
Compartment Confidence
extracellular 5
lysosome 5
endosome 4
cytosol 3
plasma membrane 2
mitochondrion 2
peroxisome 1
nucleus 1
endoplasmic reticulum 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 IDA,TAS 8443384
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 & Interactions for TCN2 Gene

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

Interacting Proteins for TCN2 Gene

Gene Ontology (GO) - Biological Process for TCN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006824 cobalt ion transport IEA --
GO:0009235 cobalamin metabolic process TAS --
GO:0015889 cobalamin transport IDA,TAS 8443384
genes like me logo Genes that share ontologies with TCN2: view

No data available for SIGNOR curated interactions for TCN2 Gene

Drugs & Compounds for TCN2 Gene

(13) Drugs for TCN2 Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyanocobalamin Approved Nutra Transporter, substrate 259
Hydroxocobalamin Approved Pharma Carrier, substrate 258
Cobalamin Nutra 259
Cobalt Pharma 167

(6) Additional Compounds for TCN2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with TCN2: view

Transcripts for TCN2 Gene

Unigene Clusters for TCN2 Gene

Transcobalamin II:
Representative Sequences:

Inhibitory RNA Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x5.1).

Protein differential expression in normal tissues from HIPED for TCN2 Gene

This gene is overexpressed in Cerebrospinal fluid (40.7) and Neutrophil (18.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TCN2 Gene



Protein tissue co-expression partners for TCN2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TCN2 Gene:

TCN2

SOURCE GeneReport for Unigene cluster for TCN2 Gene:

Hs.417948

Evidence on tissue expression from TISSUES for TCN2 Gene

  • Nervous system(4.4)
  • Eye(4)
  • Kidney(2.8)
  • Intestine(2.3)
  • Liver(2.2)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TCN2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • lymphatic
  • nervous
  • skeletal muscle
Organs:
Head and neck:
  • brain
  • head
  • mouth
Thorax:
  • esophagus
Abdomen:
  • intestine
  • large intestine
  • small intestine
  • stomach
General:
  • blood
  • bone marrow
  • coagulation system
  • red blood cell
  • white blood cell
genes like me logo Genes that share expression patterns with TCN2: view

Primer 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 34 35
  • 98.91 (n)
dog
(Canis familiaris)
Mammalia TCN2 34 35
  • 82.31 (n)
cow
(Bos Taurus)
Mammalia TCN2 34 35
  • 79.22 (n)
rat
(Rattus norvegicus)
Mammalia Tcn2 34
  • 78.12 (n)
mouse
(Mus musculus)
Mammalia Tcn2 34 16 35
  • 78.06 (n)
oppossum
(Monodelphis domestica)
Mammalia TCN2 35
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TCN2 35
  • 47 (a)
OneToOne
chicken
(Gallus gallus)
Aves TCN2 34 35
  • 56.02 (n)
lizard
(Anolis carolinensis)
Reptilia TCN2 35
  • 39 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tcn2 34
  • 51.36 (n)
zebrafish
(Danio rerio)
Actinopterygii tcn2l 34 35
  • 48.84 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 24 (a)
OneToMany
Species where no ortholog for TCN2 was found in the sources mined by GeneCards:
  • 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

TCO2_HUMAN-P20062
Pro/Arg-259 polymorphism affects TCN2 plasma concentration and may interfere in vitamin B(12) cellular availability and homocysteine metabolism (PubMed:11159542).

Sequence variations from dbSNP and Humsavar for TCN2 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type
rs372866837 Pathogenic 30,615,125(+) CAAGG(A/G/T)AAGTC intron-variant
rs606231119 Pathogenic 30,613,044(+) ATTGG(G/T)GAGCA intron-variant, splice-donor-variant
rs794728001 Pathogenic 30,615,774(+) GACTG(-/TCTG)GCACC reference, frameshift-variant
rs796064506 Pathogenic 30,615,771(+) CCAGA(-/CTGT)CTGGC reference, frameshift-variant
rs1131603 Likely benign 30,622,988(+) CTCCT(C/T)GTCAG reference, missense

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

Variant ID Type Subtype PubMed ID
esv1367588 CNV insertion 17803354
esv3647564 CNV loss 21293372
nsv1110864 OTHER inversion 24896259
nsv1133313 CNV tandem duplication 24896259
nsv1136668 CNV deletion 24896259
nsv829171 CNV loss 20364138
nsv834175 CNV gain 17160897

Variation tolerance for TCN2 Gene

Residual Variation Intolerance Score: 95.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.06; 84.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TCN2 Gene

Human Gene Mutation Database (HGMD)
TCN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCN2

Disorders for TCN2 Gene

MalaCards: The human disease database

(24) MalaCards diseases for TCN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
transcobalamin ii deficiency
  • tcn2 deficiency
vitamin b12 deficiency
  • cobalamin deficiency
transcobalamin deficiency
  • tc deficiency
macrocytic anemia
  • anemia macrocytic
fasciolopsiasis
  • infection by fasciolopsis buski
- elite association - COSMIC cancer census association via MalaCards
Search TCN2 in MalaCards View complete list of genes associated with diseases

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.

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TCN2
genes like me logo Genes that share disorders with TCN2: view

Publications for TCN2 Gene

  1. 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 22 25 46 64
  2. The cloning and characterization of the human transcobalamin II gene. (PMID: 7742531) Regec A. … Rothenberg S.P. (Blood 1995) 2 3 4 22 64
  3. 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 22 64
  4. Variations in folate pathway genes are associated with unexplained female infertility. (PMID: 19324355) AltmAoe S. … Nilsson T.K. (Fertil. Steril. 2010) 3 22 46 64
  5. Survey and biological insights of pemetrexed-related therapeutic improvement in mesothelioma: The Nancy Centre of Biological Resources' Mesothelioma Cohort. (PMID: 19546821) Vlastos F. … Martinet N. (J Thorac Oncol 2009) 3 22 46 64

Products for TCN2 Gene

Sources for TCN2 Gene

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