TCN2 Antibody

1. A meta-analysis of 12 studies did not find a significant association between the MTRR A66G polymorphism (G vs. A: OR = 0.99, 95% CI = 0.82-1.18, p = 0.72) and the risk of Nonsyndromic Cleft Lip With or Without Cleft Palate. PMID: 30004262
2. A case-control study in the Iranian population did not demonstrate an association between the TCN2 rs1801198 and TCN2R rs2336573 polymorphisms and the risk of recurrent spontaneous abortion. PMID: 29537328
3. An investigation of 201 children with Autism Spectrum Disorder and 200 healthy controls from the Han Chinese population revealed no association between the genotypes of TCN2 rs1801198, methionine synthase (MTR) rs1805087, methionine synthase reductase (MTRR) rs1801394, and methylene tetrahydrofolate reductase (MTHFR) rs1801133 and childhood ASD or its severity. PMID: 29348398
4. Proteomics analysis of glioblastoma cell lines under hypoxia identified TCN2, a B12 transporter protein essential for one-carbon metabolism, as being significantly downregulated. Downregulation of TCN2 appears to play a significant role in the transition of cells to a highly aggressive mesenchymal/cancer stem cell (CSC) phenotype. Conversely, high expression of TCN2 can potentially reverse this process. PMID: 28874504
5. Variations in TCN2 (rs1801198, rs9606756) as well as serum levels of homocysteine, vitamin B12, and folate are correlated with ulcerative colitis. PMID: 28981944
6. Tag single nucleotide polymorphisms (SNPs) in MTHFR, MTR, MTRR, and TCN2 were not associated with NSCLP in a study. However, further exploration, including allele frequencies in diverse populations and the molecular mechanisms of gene-gene interactions, could provide further insights into NSCLP. PMID: 25105440
7. TCN2 (rs1801198, rs9606756) polymorphisms, along with folate and vitamin B12 deficiencies, are correlated with Crohn's disease. PMID: 28472811
8. The rs9606756[c.67A>G,p.Ile23Val] variant in TCN2 was associated with waist circumference (WC) at nearly genome-wide significance (P = 8.92E-08). PMID: 28417558
9. Transcobalamin deficiency exhibits a wide spectrum of clinical, genotypic, laboratory, and radiological manifestations. Early diagnosis and aggressive parenteral treatment are likely associated with better prognosis and disease control. PMID: 28538514
10. Meta-analysis results indicate an influence of rs1801198 on holotranscobalamin and homocysteine concentrations in individuals of European descent. PMID: 28814397
11. TCN2 polymorphism is associated with ulcerative colitis. PMID: 28526947
12. A novel homozygous mutation (c.1106+1516_1222+1231del) was identified in 7 patients from 5 families. A 5304-bp deletion spanning from 1516 bp into intron 7 to 1231 bp into intron 8 was observed. This deletion encompasses exon 8 and leads to a frameshift, resulting in a premature stop codon 4 codons into the new reading frame (counting ATG as 1). PMID: 27824740
13. The association of the TCN2 polymorphism with peripheral neuropathy was independent of vitamin B-12 intake. PMID: 27733392
14. The G/G homozygosity of C776G TC2 and the C/G genotype of the C776G TC2 gene polymorphism are associated with an increased risk of oral cancer. PMID: 28155977
15. While the mutation does not appear to compromise the function of transcobalamin, it could potentially explain the low levels of holotranscobalamin detected by the Abbott assay. These findings highlight the importance of considering TCN2 mutations when interpreting atypical holotranscobalamin results. PMID: 27155006
16. Four patients with transcobalamin II deficiency were found to have novel mutations, with two sharing the same large deletion (homozygous c.1106+1516-1222+1231del). One patient presented with c.1107- 347_1222+981delin 364, and another had homozygous c.106C>T (Q36X). PMID: 25914105
17. No other associations were observed between single-nucleotide polymorphisms and the efficacy of methotrexate treatment. The MTHFR 677CC and GGH 401TT and CT genotypes were associated with a reduction in the number of methotrexate-related adverse events. PMID: 25599563
18. This study reports TCN2 mutations causing transcobalamin deficiency in an Indian patient. PMID: 25947267
19. Although not statistically significant after correcting for multiple testing, eight single nucleotide polymorphisms (SNPs) in two genes, transcobalamin II (TCN2) and the transcobalamin II-receptor (TCblR), were found to influence several clinical traits of cobalamin deficiency. PMID: 25657319
20. In Asian populations, the investigated polymorphisms mapping at TCN2 and CBS genes did not provide any evidence of association with cleft lip/cleft palate. PMID: 26540672
21. The TCN2 776C --> G polymorphism is negatively associated with Alzheimer's type dementia, suggesting a protective role against the disease in subjects with the 5, 10-methylenetetrahydrofolate reductase 1298AA genotype. PMID: 25395544
22. This study investigated transcobalamin II (TCN2 67A>G and TCN2 776C>G) and transcobalamin II receptor (TCblR 1104C>T) polymorphisms in Korean patients with idiopathic recurrent spontaneous abortion. PMID: 24750446
23. Neither MTHFD G1958A nor TC C776G polymorphisms are independent risk factors for Down syndrome. However, the combined MTHFD/MTHFR, TC/MTHFR genotypes may contribute to the risk of having a child with Down syndrome in the Chinese population. PMID: 24668664
24. This study reports TCN2 mutations causing transcobalamin deficiency in a family. PMID: 20607612
25. Proliferating cancer cells express detectable levels of TCII and TCII-R. PMID: 24122983
26. Haplotype association analysis revealed a significant association between idiopathic pulmonary fibrosis and transcobalamin II gene polymorphisms. PMID: 23089108
27. Observations suggest that the missense variant Tc2. 776C>G influences both neurotoxicity and efficacy of methotrexate in patients with primary central nervous system lymphoma. PMID: 23099805
28. Preliminary results indicate that transcobalamin 2 gene polymorphisms may be a susceptibility factor for colorectal cancer. PMID: 22794911
29. Three SNPs in the transcobalamin II gene (G1196A, C776G, and C1043T) are significantly associated with coronary artery disease in the Indian population. PMID: 22188304
30. Holotranscobalamin measurement does not demonstrate superior diagnostic accuracy compared to vitamin B12 for detecting vitamin B12 deficiency in individuals with neuropsychiatric conditions. PMID: 20890610
31. The maternal 776C>G polymorphism in TCN2 was strongly predictive of neural tube defects in the offspring (p = 0.006). PMID: 21770021
32. Variations in the TCN2 gene also affect recurrent stroke risk in response to cofactor therapy. PMID: 21975197
33. Genetic association studies in adult populations in Norway found that serum holoTC concentration (but not other indicators of cobalamin status) is lower in TCN2 67AG or 67GG genotypes compared to 67AA. However, no differences were observed among TCN2 776C>G genotypes. PMID: 21865561
34. The TCN2 776C>G polymorphism may contribute to the risk of pathologies associated with low B(12) and high tHcy phenotypes. PMID: 20808328
35. This study explored the structural changes of TCII induced by single nucleotide polymorphisms. PMID: 21214274
36. The G allele of Tc2 c.776C -> G was associated with higher LDL plasma levels, lower HDL plasma levels, higher triglyceride plasma levels, and higher total cholesterol levels. PMID: 20948192
37. The association between vitamin B12 and homocysteine concentrations is modified by the TC 776 genotype in older Latino populations. PMID: 20216556
38. Data suggest that the TCN2 776CNG genotype significantly influences B(12) cellular delivery. PMID: 20144600
39. Exploratory data suggest an association between MTHFR 429 Ala/ Ala and TCN2 259 Arg/Arg and CIMP status in colorectal cancer. PMID: 19936946
40. Single nucleotide polymorphisms in the transcobalamin II gene are associated with mesothelioma. PMID: 19546821
41. Using MMA as a marker for vitamin B12, these results suggest that TCN2 gene variants may lead to reduced vitamin B12 availability, impairing energy metabolism and potentially contributing to frailty pathology. PMID: 20082058
42. The molecular basis for TCN2 deficiency in two patients with megaloblastic anemia was identified as variance in RNA editing. PMID: 12064907
43. This study determined the influence of TCII genotype on indices of B12 status, including total serum B12, the amount of B12 bound to TCII (holoTCII), methylmalonic acid, and homocysteine. PMID: 12091374
44. Transcobalamin II expression is regulated by transcription factor(s) binding to a hexameric sequence (TGGTCC) in the promoter region. PMID: 12413492
45. Optimal binding of Cbl by human TC II is supported by disulfide bonds C98-C291 and C147-C187, and disruption of these bonds results in loss of cobalamin binding and their rapid degradation by the proteasomal machinery. PMID: 12660150
46. The TCN2 776C>G polymorphism does not influence holo-Transcobalamin II or vitamin B12 levels and has no major effect on tHcy concentrations in end-stage renal disease patients. PMID: 12911562
47. Heterozygosity or homozygosity for TCN2 776C>G was not associated with plasma levels of vitamin B, folate, and total homocysteine levels in kidney transplant patients. PMID: 15086930
48. Six common polymorphisms in the TCII gene do not significantly influence the risk of neural tube defects in an Irish population. PMID: 15782407
49. Transcobalamin 2 is involved in the development of non-syndromic cleft lip with or without cleft palate. PMID: 16470748
50. These findings, if confirmed in other populations, highlight the need for further investigation of the transcobalamin II C776G polymorphism in research related to hyperhomocysteinemia risk factors. PMID: 16820193

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HGNC: 11653

OMIM: 275350

KEGG: hsa:6948

STRING: 9606.ENSP00000215838

UniGene: Hs.417948