Identity
HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
8D6,8D6A,TCBLR,TCN2R
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: 51293
MIM: 606475
HGNC: 16692
Ensembl: ENSG00000167775
Variants:
dbSNP: 51293
ClinVar: 51293
TCGA: ENSG00000167775
COSMIC: CD320
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000167775 | ENST00000301458 | Q9NPF0 |
| ENSG00000167775 | ENST00000537716 | Q9NPF0 |
| ENSG00000167775 | ENST00000596002 | M0R1C4 |
| ENSG00000167775 | ENST00000599573 | M0R100 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37202078 | 2023 | Transcobalamin receptor gene polymorphisms and mutation in an elderly population. | 0 |
| 37202078 | 2023 | Transcobalamin receptor gene polymorphisms and mutation in an elderly population. | 0 |
| 35107211 | 2022 | Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene. | 2 |
| 35107211 | 2022 | Probing the functional consequence and clinical relevance of CD320 p.E88del, a variant in the transcobalamin receptor gene. | 2 |
| 33803025 | 2021 | Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter. | 3 |
| 33803025 | 2021 | Intracellular and Tissue Levels of Vitamin B12 in Hepatocytes Are Modulated by CD320 Receptor and TCN2 Transporter. | 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 |
| 32898552 | 2020 | Cellular uptake of vitamin B(12): Role and fate of TCblR/CD320, the transcobalamin receptor. | 10 |
| 32498429 | 2020 | 3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women. | 7 |
| 32898552 | 2020 | Cellular uptake of vitamin B(12): Role and fate of TCblR/CD320, the transcobalamin receptor. | 10 |
| 31123954 | 2019 | Genetic polymorphisms of the cobalamin transport system are associated with idiopathic recurrent implantation failure. | 1 |
| 31123954 | 2019 | Genetic polymorphisms of the cobalamin transport system are associated with idiopathic recurrent implantation failure. | 1 |
| 29537328 | 2018 | Evaluation of transcobalamin II rs1801198 and transcobalamin II receptor rs2336573 gene polymorphisms in recurrent spontaneous abortion. | 1 |
| 29663633 | 2018 | Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome. | 4 |
| 29537328 | 2018 | Evaluation of transcobalamin II rs1801198 and transcobalamin II receptor rs2336573 gene polymorphisms in recurrent spontaneous abortion. | 1 |
Citation
Dessen P
CD320 (CD320 molecule)
Atlas Genet Cytogenet Oncol Haematol. 2013-12-01
Online version: http://atlasgeneticsoncology.org/gene/53536/cd320-(cd320-molecule)
