TCN2 Gene Summary [Human]
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]
Details
| Type | Retained Intron |
| Official Symbol | TCN2 |
| Official Name | transcobalamin 2 [Source:HGNC Symbol;Acc:HGNC:11653] |
| Ensembl ID | ENSG00000185339 |
| Bio databases IDs | |
| Aliases | transcobalamin 2, macrocytic anemia |
| Synonyms | D22S676, D22S750, II, TC, TC-2, TC II, TCN2P, transcobalamin 2, Transcobalamine 2 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human TCN2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- vitamin binding
- Eukaryotic cobalamin-binding protein
- binding protein
- Domain of unknown function (DUF4430)
- protein binding
- tetrapyrrole binding
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- non-insulin-dependent diabetes mellitus
- transcobalamin II deficiency
- hereditary disorder
- Wilms tumorigenesis
- cobalamin deficiency
- Moyamoya disease
- megaloblastic anemia
regulates
- tetracarboxyphenylporphine
- cyanocobalamin
- methylmalonic acid
role in cell
- growth
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- Plasma Membrane
- plasma membrane extracellular face
- lysosomal compartment
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human TCN2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cobalt ion transport
- cobalamin transport
Cellular Component
Where in the cell the gene product is active
- extracellular space
- external side of plasma membrane
- lysosomal lumen
- extracellular region
- plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein binding
- metal ion binding
- cobalamin binding