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51293 CD320

51293

CD320

CD320 molecule

protein-coding

Homo sapiens

基因描述

Type Description
Definition CD320 molecule

研究结论

Date Results Publications
2021-03-20 13:31:00 3'-UTR Polymorphisms of Vitamin B-Related Genes Are Associated with Osteoporosis and Osteoporotic Vertebral Compression Fractures (OVCFs) in Postmenopausal Women. 32498429
2021-03-13 13:18:00 Cellular uptake of vitamin B12: Role and fate of TCblR/CD320, the transcobalamin receptor. 32898552
2019-12-14 11:29:00 In genotype combination analysis, two combinations containing the TCN2 67 polymorphism AG type were associated with RIF risk. Our study showed that the polymorphisms of TCN2 and TCblR are associated with RIF and are potential genetic predisposing factors for RIF among Korean women. 31123954
2019-05-25 10:32:00 A known pathogenic CD320 variant (c.262_264GAG; p.Glu88del) in methylmalonic aciduria cases. 29663633
2018-12-10 17:42:00 It has been proposed that the transcobalamin 2 receptor (TCN2R) is associated with idiopathic recurrent spontaneous abortion (RSA). The findings showed no significant association between TCN2R rs2336573 polymorphisms and the risk/protection of recurrent spontaneous abortion. 29537328

名称对应

Type IDs
Synonymous 8D6, 8D6A, TCBLR, TCN2R
Gene
UniProtKB-ID: CD320_HUMAN
UniprotKB: Q9NPF0
UniParc: UPI000059D656, UPI0000037B71
EMBL: BC007083, CH471139, AK222623, CR457174, AK058014, BC000668, AK315656, AC010323, AY358420, AL136652, AL365455, AF161254
Ensembl: ENSG00000167775
KO: hsa:51293
Nucleutide sequences
EMBL-CDS: AAF61850.1, CAB66587.1, EAW68936.1, EAW68939.1, AAQ88786.1, BAG38022.1, CAB97010.1, CAG33455.1, BAD96343.1, AAH00668.1, AAH07083.1
Gene_ORFName: UNQ198/PRO224
Ensembl_TRS: ENST00000301458, ENST00000537716
Protein sequencees
Ensembl_PRO: ENSP00000301458, ENSP00000437697
RefSeq: NP_001159367.1, NP_057663.1
Others
UniRef100: UniRef100_Q9NPF0
UniRef90: UniRef90_Q9NPF0
UniRef50: UniRef50_Q9NPF0
UniGene: Hs.558499
CCDS: CCDS12198.1, CCDS54210.1

全选

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