Identity
HGNC
LOCATION
22q12.2
LOCUSID
ALIAS
D22S676,D22S750,II,TC,TC
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 6948
MIM: 613441
HGNC: 11653
Ensembl: ENSG00000185339
Variants:
dbSNP: 6948
ClinVar: 6948
TCGA: ENSG00000185339
COSMIC: TCN2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000185339 | ENST00000215838 | P20062 |
| ENSG00000185339 | ENST00000405742 | B5MBX2 |
| ENSG00000185339 | ENST00000407817 | P20062 |
| ENSG00000185339 | ENST00000450638 | F8WE86 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37800653 | 2024 | "Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene". | 2 |
| 37800653 | 2024 | "Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene". | 2 |
| 32207595 | 2021 | Relationship between cobalt transporter II gene rs9606756 site mutant and serum homocysteine level and recurrent cerebral infarction in young and middle-aged people. | 0 |
| 33803025 | 2021 | Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter. | 3 |
| 34027569 | 2021 | Folate metabolizing gene polymorphisms and genetic vulnerability to preterm birth in Korean women. | 3 |
| 32207595 | 2021 | Relationship between cobalt transporter II gene rs9606756 site mutant and serum homocysteine level and recurrent cerebral infarction in young and middle-aged people. | 0 |
| 33803025 | 2021 | Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter. | 3 |
| 34027569 | 2021 | Folate metabolizing gene polymorphisms and genetic vulnerability to preterm birth in Korean women. | 3 |
| 32498429 | 2020 | 3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women. | 7 |
| 32841161 | 2020 | Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature. | 7 |
| 32498429 | 2020 | 3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women. | 7 |
| 32841161 | 2020 | Transcobalamin II deficiency in twins with a novel variant in the TCN2 gene: case report and review of literature. | 7 |
| 31123954 | 2019 | Genetic polymorphisms of the cobalamin transport system are associated with idiopathic recurrent implantation failure. | 1 |
| 31663440 | 2019 | Association between oral cleft and transcobalamin 2 polymorphism in a sample study from Nassiriya, Iraq. | 2 |
| 31815282 | 2019 | Association of single nucleotide polymorphisms of MTHFR, TCN2, RNF213 with susceptibility to hypertension and blood pressure. | 8 |
Citation
Dessen P
TCN2 (transcobalamin 2)
Atlas Genet Cytogenet Oncol Haematol. 2010-06-01
Online version: http://atlasgeneticsoncology.org/gene/51539/tcn2-(transcobalamin-2)
