TCN2 transcobalamin 2
Gene ID: 6948, updated on 8-Oct-2024Gene type: protein coding
Also known as: II; TC; TC2; TC-2; TCII; TC II; D22S676; D22S750
- See all available tests in GTR for this gene
- Go to complete Gene record for TCN2
- Go to Variation Viewer for TCN2 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies susceptibility loci for Wilms tumor. GeneReviews: Not available | |
| Transcobalamin II deficiency | not available |
Genomic context
- Location:
- 22q12.2
- Sequence:
- Chromosome: 22; NC_000022.11 (30607174..30627271)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TCN2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TCN2 database
- TCN2base: Mutation registry for Transcobalamin II deficiency
- Variation ViewerRelated Variants
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