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79695 GALNT12

79695

GALNT12

polypeptide N-acetylgalactosaminyltransferase 12

protein-coding

Homo sapiens

基因描述

Type Description
Definition polypeptide N-acetylgalactosaminyltransferase 12

研究结论

Date Results Publications
2019-07-20 13:27:00 The findings provide strong, independent evidence for the association of GALNT12 defects with CRC-susceptibility; underscoring implications for glycosylation pathway defects in CRC. 29749045
2017-12-09 12:47:00 LOH analyses, glycosylation pattern tests and case-control studies, our results did not support the role of c.907G>A, p.(D303N) as a high-penetrance risk allele for polyposis CRC 29095867
2014-08-09 10:42:00 Results rule out GALNT12 as a major high familial colorectal cancer susceptibility gene. Additional studies are required to provide further evidence about its role as a moderate/low susceptibility gene in familial aggregation of cancer. 24115450
2014-07-26 11:30:00 we integrated different computational tools to perform the in silico analysis of clinically significant mutations (nsSNPs/single amino acid change) at both functional and structural levels, found in human GALNT3, GALNT8, GALNT12, and GALNT13 genes. 24038392
2012-09-29 11:04:00 Inherited deleterious variants in GALNT12 are associated with CRC susceptibility. 22461326

名称对应

Type IDs
Synonymous CRCS1, GalNAc-T12
Gene
UniProtKB-ID: GLT12_HUMAN
UniprotKB: Q8IXK2
UniParc: UPI000004D295, UPI0000072312
EMBL: AB078146, AK024865, BC013945, AL136084, AJ132365
Ensembl: ENSG00000119514
KO: hsa:79695
Nucleutide sequences
EMBL-CDS: CAC80100.2, BAC07181.1, BAB15027.1, AAH13945.1
Ensembl_TRS: ENST00000375011
Protein sequencees
Ensembl_PRO: ENSP00000364150
RefSeq: XP_006717350.1, XP_024303441.1, XP_016870622.1, NP_078918.3, XP_011517322.1, XP_011517320.1
Others
UniRef100: UniRef100_Q8IXK2
UniRef90: UniRef90_Q8IXK2
UniRef50: UniRef50_Q8IXK2
UniGene: Hs.47099
CCDS: CCDS6737.1

全选

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