Name | transcobalamin II |
Description | 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] |
Summary |
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Such differences have been associated with altered biomarker profiles and, ultimately, with various clinical phenotypes ranging from neurodevelopmental and spontaneous abortion outcomes to age‐related vitamin B₁₂ deficiency."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its fundamental role in normal physiology, altered TCN2 function—mediated by its genetic variants—has been implicated in a spectrum of disease processes. Variants such as TCN2 776C>G have been linked to disruptions in vitamin B₁₂ bioavailability, as evidenced by changes in holotranscobalamin, methylmalonic acid, and homocysteine levels. These metabolic disturbances have been observed in studies of neural tube defects, orofacial clefts, congenital heart anomalies, and certain cancers (including altered CpG island methylation in colorectal tumors), underscoring the potential pathogenic impact of impaired vitamin B₁₂ transport on embryonic development and tumorigenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "18"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAdditional population‐based and mechanistic studies have further extended the significance of TCN2 by demonstrating its involvement not only in vitamin B₁₂ status and related metabolic markers but also in modifying clinical outcomes in diverse settings such as frailty, stroke, and even cancer cell adaptation under hypoxic conditions. Downregulation of TCN2 under hypoxia, for instance, has been linked to a mesenchymal and cancer stem cell phenotype, while meta‐analyses reveal that specific TCN2 polymorphisms impact holotranscobalamin and homocysteine concentrations. Such findings support the notion that genetic variability in TCN2 can influence susceptibility to complex conditions—including hypertension, inflammatory disorders, and congenital malformations—by modulating vitamin B₁₂ trafficking and one‐carbon metabolism."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "19", "end_ref": "34"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Joshua W Miller, Marisa I Ramos, Marjorie G Garrod, et al. 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Synonyms | TC-2, TCII, TC II, D22S676, D22S750 |
Proteins | TCO2_HUMAN |
NCBI Gene ID | 6948 |
API | |
Download Associations | |
Predicted Functions |
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Co-expressed Genes |
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Expression in Tissues and Cell Lines |
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TCN2 has 6,379 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 111 datasets.
Click the + buttons to view associations for TCN2 from the datasets below.
If available, associations are ranked by standardized value
Dataset | Summary | |
---|---|---|
Achilles Cell Line Gene Essentiality Profiles | cell lines with fitness changed by TCN2 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset. | |
Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of TCN2 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles | tissues with high or low expression of TCN2 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray | tissue samples with high or low expression of TCN2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset. | |
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq | tissue samples with high or low expression of TCN2 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset. | |
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles | tissues with high or low expression of TCN2 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset. | |
BioGPS Cell Line Gene Expression Profiles | cell lines with high or low expression of TCN2 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset. | |
BioGPS Human Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of TCN2 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset. | |
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of TCN2 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset. | |
CCLE Cell Line Gene CNV Profiles | cell lines with high or low copy number of TCN2 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset. | |
CCLE Cell Line Gene Expression Profiles | cell lines with high or low expression of TCN2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset. | |
CellMarker Gene-Cell Type Associations | cell types associated with TCN2 gene from the CellMarker Gene-Cell Type Associations dataset. | |
ChEA Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of TCN2 gene from the CHEA Transcription Factor Binding Site Profiles dataset. | |
ChEA Transcription Factor Targets | transcription factors binding the promoter of TCN2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset. | |
ChEA Transcription Factor Targets 2022 | transcription factors binding the promoter of TCN2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset. | |
CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of TCN2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores | cellular components containing TCN2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 | cellular components containing TCN2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset. | |
COMPARTMENTS Experimental Protein Localization Evidence Scores | cellular components containing TCN2 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores | cellular components co-occuring with TCN2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset. | |
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 | cellular components co-occuring with TCN2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset. | |
COSMIC Cell Line Gene CNV Profiles | cell lines with high or low copy number of TCN2 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset. | |
COSMIC Cell Line Gene Mutation Profiles | cell lines with TCN2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset. | |
CTD Gene-Chemical Interactions | chemicals interacting with TCN2 gene/protein from the curated CTD Gene-Chemical Interactions dataset. | |
CTD Gene-Disease Associations | diseases associated with TCN2 gene/protein from the curated CTD Gene-Disease Associations dataset. | |
DepMap CRISPR Gene Dependency | cell lines with fitness changed by TCN2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset. | |
DISEASES Curated Gene-Disease Association Evidence Scores 2025 | diseases involving TCN2 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset. | |
DISEASES Experimental Gene-Disease Association Evidence Scores | diseases associated with TCN2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 | diseases associated with TCN2 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores | diseases co-occuring with TCN2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset. | |
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 | diseases co-occuring with TCN2 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset. | |
DisGeNET Gene-Disease Associations | diseases associated with TCN2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset. | |
DisGeNET Gene-Phenotype Associations | phenotypes associated with TCN2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset. | |
DrugBank Drug Targets | interacting drugs for TCN2 protein from the curated DrugBank Drug Targets dataset. | |
ENCODE Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at TCN2 gene from the ENCODE Histone Modification Site Profiles dataset. | |
ENCODE Transcription Factor Binding Site Profiles | transcription factor binding site profiles with transcription factor binding evidence at the promoter of TCN2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset. | |
ENCODE Transcription Factor Targets | transcription factors binding the promoter of TCN2 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset. | |
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells | PubMedIDs of publications reporting gene signatures containing TCN2 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset. | |
GAD Gene-Disease Associations | diseases associated with TCN2 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset. | |
GAD High Level Gene-Disease Associations | diseases associated with TCN2 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset. | |
GDSC Cell Line Gene Expression Profiles | cell lines with high or low expression of TCN2 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset. | |
GeneRIF Biological Term Annotations | biological terms co-occuring with TCN2 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset. | |
GeneSigDB Published Gene Signatures | PubMedIDs of publications reporting gene signatures containing TCN2 from the GeneSigDB Published Gene Signatures dataset. | |
GEO Signatures of Differentially Expressed Genes for Diseases | disease perturbations changing expression of TCN2 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset. | |
GEO Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of TCN2 gene from the GEO Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations | kinase perturbations changing expression of TCN2 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of TCN2 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations | transcription factor perturbations changing expression of TCN2 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset. | |
GEO Signatures of Differentially Expressed Genes for Viral Infections | virus perturbations changing expression of TCN2 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset. | |
GO Biological Process Annotations 2015 | biological processes involving TCN2 gene from the curated GO Biological Process Annotations 2015 dataset. | |
GO Biological Process Annotations 2023 | biological processes involving TCN2 gene from the curated GO Biological Process Annotations 2023 dataset. | |
GO Biological Process Annotations 2025 | biological processes involving TCN2 gene from the curated GO Biological Process Annotations2025 dataset. | |
GO Cellular Component Annotations 2015 | cellular components containing TCN2 protein from the curated GO Cellular Component Annotations 2015 dataset. | |
GO Cellular Component Annotations 2023 | cellular components containing TCN2 protein from the curated GO Cellular Component Annotations 2023 dataset. | |
GO Cellular Component Annotations 2025 | cellular components containing TCN2 protein from the curated GO Cellular Component Annotations 2025 dataset. | |
GO Molecular Function Annotations 2015 | molecular functions performed by TCN2 gene from the curated GO Molecular Function Annotations 2015 dataset. | |
GO Molecular Function Annotations 2023 | molecular functions performed by TCN2 gene from the curated GO Molecular Function Annotations 2023 dataset. | |
GTEx eQTL 2025 | SNPs regulating expression of TCN2 gene from the GTEx eQTL 2025 dataset. | |
GTEx Tissue Gene Expression Profiles | tissues with high or low expression of TCN2 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset. | |
GTEx Tissue Gene Expression Profiles 2023 | tissues with high or low expression of TCN2 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset. | |
GTEx Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of TCN2 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset. | |
GWAS Catalog SNP-Phenotype Associations | phenotypes associated with TCN2 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset. | |
GWASdb SNP-Disease Associations | diseases associated with TCN2 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset. | |
GWASdb SNP-Phenotype Associations | phenotypes associated with TCN2 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset. | |
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles | cell lines with high or low expression of TCN2 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset. | |
HMDB Metabolites of Enzymes | interacting metabolites for TCN2 protein from the curated HMDB Metabolites of Enzymes dataset. | |
HPA Cell Line Gene Expression Profiles | cell lines with high or low expression of TCN2 gene relative to other cell lines from the HPA Cell Line Gene Expression Profiles dataset. | |
HPA Tissue Gene Expression Profiles | tissues with high or low expression of TCN2 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset. | |
HPA Tissue Protein Expression Profiles | tissues with high or low expression of TCN2 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset. | |
HPA Tissue Sample Gene Expression Profiles | tissue samples with high or low expression of TCN2 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset. | |
HPO Gene-Disease Associations | phenotypes associated with TCN2 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset. | |
HuBMAP Azimuth Cell Type Annotations | cell types associated with TCN2 gene from the HuBMAP Azimuth Cell Type Annotations dataset. | |
HuGE Navigator Gene-Phenotype Associations | phenotypes associated with TCN2 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset. | |
InterPro Predicted Protein Domain Annotations | protein domains predicted for TCN2 protein from the InterPro Predicted Protein Domain Annotations dataset. | |
JASPAR Predicted Transcription Factor Targets | transcription factors regulating expression of TCN2 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles | cell lines with high or low copy number of TCN2 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles | cell lines with high or low expression of TCN2 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Expression Profiles dataset. | |
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles | cell lines with TCN2 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset. | |
KnockTF Gene Expression Profiles with Transcription Factor Perturbations | transcription factor perturbations changing expression of TCN2 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset. | |
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures | small molecule perturbations changing expression of TCN2 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset. | |
LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules | small molecule perturbations changing expression of TCN2 gene from the LINCS L1000 CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset. | |
LOCATE Curated Protein Localization Annotations | cellular components containing TCN2 protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset. | |
MotifMap Predicted Transcription Factor Targets | transcription factors regulating expression of TCN2 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset. | |
MoTrPAC Rat Endurance Exercise Training | tissue samples with high or low expression of TCN2 gene relative to other tissue samples from the MoTrPAC Rat Endurance Exercise Training dataset. | |
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations | gene perturbations changing expression of TCN2 gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset. | |
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles | drug perturbations changing expression of TCN2 gene from the NIBR DRUG-seq U2OS MoA Box dataset. | |
OMIM Gene-Disease Associations | phenotypes associated with TCN2 gene from the curated OMIM Gene-Disease Associations dataset. | |
Pathway Commons Protein-Protein Interactions | interacting proteins for TCN2 from the Pathway Commons Protein-Protein Interactions dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations | gene perturbations changing expression of TCN2 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations | gene perturbations changing expression of TCN2 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset. | |
PFOCR Pathway Figure Associations 2023 | pathways involving TCN2 protein from the PFOCR Pathway Figure Associations 2023 dataset. | |
PFOCR Pathway Figure Associations 2024 | pathways involving TCN2 protein from the Wikipathways PFOCR 2024 dataset. | |
Reactome Pathways 2014 | pathways involving TCN2 protein from the Reactome Pathways dataset. | |
Reactome Pathways 2024 | pathways involving TCN2 protein from the Reactome Pathways 2024 dataset. | |
Roadmap Epigenomics Cell and Tissue Gene Expression Profiles | cell types and tissues with high or low expression of TCN2 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue Gene Expression Profiles dataset. | |
Roadmap Epigenomics Histone Modification Site Profiles | histone modification site profiles with high histone modification abundance at TCN2 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset. | |
RummaGEO Drug Perturbation Signatures | drug perturbations changing expression of TCN2 gene from the RummaGEO Drug Perturbation Signatures dataset. | |
RummaGEO Gene Perturbation Signatures | gene perturbations changing expression of TCN2 gene from the RummaGEO Gene Perturbation Signatures dataset. | |
Sanger Dependency Map Cancer Cell Line Proteomics | cell lines associated with TCN2 protein from the Sanger Dependency Map Cancer Cell Line Proteomics dataset. | |
Tabula Sapiens Gene-Cell Associations | cell types with high or low expression of TCN2 gene relative to other cell types from the Tabula Sapiens Gene-Cell Associations dataset. | |
TargetScan Predicted Conserved microRNA Targets | microRNAs regulating expression of TCN2 gene predicted using conserved miRNA seed sequences from the TargetScan Predicted Conserved microRNA Targets dataset. | |
TargetScan Predicted Nonconserved microRNA Targets | microRNAs regulating expression of TCN2 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset. | |
TCGA Signatures of Differentially Expressed Genes for Tumors | tissue samples with high or low expression of TCN2 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores | tissues with high expression of TCN2 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Curated Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of TCN2 protein from the TISSUES Curated Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores | tissues with high expression of TCN2 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 | tissues with high expression of TCN2 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores | tissues co-occuring with TCN2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset. | |
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 | tissues co-occuring with TCN2 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset. | |
WikiPathways Pathways 2014 | pathways involving TCN2 protein from the Wikipathways Pathways 2014 dataset. | |
WikiPathways Pathways 2024 | pathways involving TCN2 protein from the WikiPathways Pathways 2024 dataset. | |