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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 Transcobalamin Deficiency. Among its related pathways are Diseases of metabolism and Metabolism. Gene Ontology (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.

Additional gene information for TCN2 Gene

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

GeneHancer (GH) Regulatory Elements for TCN2 Gene

Promoters and enhancers for TCN2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I030605 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 567.9 +1.2 1233 5.5 PKNOX1 FOXA2 ARID4B SIN3A YY1 ZNF766 ZNF143 FOS SP5 JUNB TCN2 PES1 TUG1 MORC2 OSM SLC35E4 ENSG00000250318 SEC14L6 SMTN DUSP18
GH22I030589 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 15.8 -15.4 -15438 2.8 PKNOX1 CLOCK FOXA2 ARNT ARID4B SIN3A DMAP1 ZBTB7B YY1 ZNF766 PES1 TCN2 LINC01521 RNF215 SLC35E4 ENSG00000223831 GAL3ST1
GH22I030634 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE 8.6 +29.2 29191 4 PKNOX1 ZFP64 SIN3A ZNF2 IRF4 GLIS2 GATA2 ARID2 ZNF207 ZNF143 SLC35E4 TCN2 PES1 OSM SMTN CCDC157 TBC1D10A DUSP18 SF3A1 GC22P030639
GH22I031052 Enhancer 1.2 Ensembl ENCODE 10 +448.1 448118 4.3 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 SELENOM INPP5J MORC2 TUG1 ENSG00000223831 PES1 TCN2 RNU6-1128P ENSG00000278920 RN7SL633P
GH22I030648 Enhancer 1 Ensembl ENCODE 11.4 +42.6 42635 1.4 BCOR CTCF KLF1 PKNOX1 JUN ZMYM3 BATF FOSL1 ZFHX2 CTBP1 PES1 TCN2 ENSG00000223831 ENSG00000250318 GC22P030639 SLC35E4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TCN2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TCN2 gene promoter:

Genomic Locations for TCN2 Gene

Genomic Locations for TCN2 Gene
20,441 bases
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:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q96FD4
    • Q9BVI8
    • Q9UCI5
    • Q9UCI6
    • Q9UDM0

    Protein attributes for TCN2 Gene

    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


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

No data available for DME Specific Peptides for TCN2 Gene

Domains & Families for TCN2 Gene

Gene Families for TCN2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for TCN2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



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

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.

Phenotypes From GWAS Catalog for TCN2 Gene

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

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


Subcellular locations from

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

Subcellular locations from the

Human Protein Atlas (HPA)

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,IDA 8443384
GO:0005768 endosome TAS --
GO:0043202 lysosomal lumen TAS --
GO:0070062 extracellular exosome IDA,HDA 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 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

(15) 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 337
Hydroxocobalamin Approved Pharma Carrier, substrate 337
Cobalamin Nutra 337
Cobalt Pharma 174

(4) 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

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

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

Relevant External Links for TCN2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

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:


SOURCE GeneReport for Unigene cluster for TCN2 Gene:


Evidence on tissue expression from TISSUES for TCN2 Gene

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

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

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

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
(Pan troglodytes)
Mammalia TCN2 33 34
  • 98.91 (n)
(Canis familiaris)
Mammalia TCN2 33 34
  • 82.31 (n)
(Bos Taurus)
Mammalia TCN2 33 34
  • 79.22 (n)
(Rattus norvegicus)
Mammalia Tcn2 33
  • 78.12 (n)
(Mus musculus)
Mammalia Tcn2 33 16 34
  • 78.06 (n)
(Monodelphis domestica)
Mammalia TCN2 34
  • 53 (a)
(Ornithorhynchus anatinus)
Mammalia TCN2 34
  • 47 (a)
(Gallus gallus)
Aves TCN2 33 34
  • 56.02 (n)
(Anolis carolinensis)
Reptilia TCN2 34
  • 39 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia tcn2 33
  • 51.36 (n)
(Danio rerio)
Actinopterygii tcn2l 33 34
  • 48.84 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 24 (a)
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

Gene Tree for TCN2 (if available)
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

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 Variation AA Info Type
rs10418 benign, Transcobalamin II deficiency 30,626,965(+) C/T 3_prime_UTR_variant
rs1057338857 uncertain-significance, Transcobalamin II deficiency 30,607,141(+) G/A 5_prime_UTR_variant
rs1131603 conflicting-interpretations-of-pathogenicity, Transcobalamin II deficiency 30,622,988(+) T/C coding_sequence_variant, missense_variant
rs117353193 uncertain-significance, Transcobalamin II deficiency 30,614,430(+) G/A coding_sequence_variant, missense_variant
rs117458738 likely-benign, Transcobalamin II deficiency 30,617,387(+) C/A/T coding_sequence_variant, missense_variant

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

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

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)

Additional Variant Information for TCN2 Gene

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

Disorders for TCN2 Gene

MalaCards: The human disease database

(21) MalaCards diseases for TCN2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

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


  • 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

Additional Disease Information for TCN2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 … Guéant JL (Thrombosis and haemostasis 2006) 3 22 25 44 58
  2. The cloning and characterization of the human transcobalamin II gene. (PMID: 7742531) Regec A … Rothenberg SP (Blood 1995) 2 3 4 22 58
  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 SP (The Journal of biological chemistry 1991) 2 3 4 22 58
  4. Variations in folate pathway genes are associated with unexplained female infertility. (PMID: 19324355) Altmäe S … Nilsson TK (Fertility and sterility 2010) 3 22 44 58
  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 (Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer 2009) 3 22 44 58

Products for TCN2 Gene

Sources for TCN2 Gene

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