Gene: TCN2

Alternate names for this Gene: D22S676|D22S750|II|TC|TC II|TC-2|TC2|TCII

Gene 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.

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.2

Description of this Gene: transcobalamin 2

Type of Gene: protein-coding

rs12485165 in TCN2 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs117353193 in TCN2 gene and Moyamoya Disease PMID 29273593 2018 Two novel SNPs in genes regulating homocysteine metabolism, rs9651118 in <i>MTHFR</i> (<i>P</i><sub>combined</sub>=2.49×10<sup>-19</sup>; odds ratio, 0.65) and rs117353193 in <i>TCN2</i> (<i>P</i><sub>combined</sub>=6.15×10<sup>-13</sup>; odds ratio, 1.43), were associated with high-serum homocysteine in MMD cases.

rs117353193 in TCN2 gene and Moyamoya disease 1 PMID 29273593 2018 Two novel SNPs in genes regulating homocysteine metabolism, rs9651118 in <i>MTHFR</i> (<i>P</i><sub>combined</sub>=2.49×10<sup>-19</sup>; odds ratio, 0.65) and rs117353193 in <i>TCN2</i> (<i>P</i><sub>combined</sub>=6.15×10<sup>-13</sup>; odds ratio, 1.43), were associated with high-serum homocysteine in MMD cases.

rs11913239 in TCN2 gene and Nephroblastoma PMID 22544364 2012 A genome-wide association study identifies susceptibility loci for Wilms tumor.

rs778381859 in TCN2 gene and Transcobalamin II deficiency PMID 20352340 2010 Should transcobalamin deficiency be treated aggressively?

PMID 24305960 2014 Update on transcobalamin deficiency: clinical presentation, treatment and outcome.