Property Summary

NCBI Gene PubMed Count 6
PubMed Score 3.37
PubTator Score 5.14

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (8)

Disease log2 FC p
cutaneous lupus erythematosus -1.200 0.004
psoriasis -1.300 0.000
medulloblastoma -1.700 0.000
glioblastoma -1.900 0.002
atypical teratoid / rhabdoid tumor -2.400 0.000
medulloblastoma, large-cell -2.000 0.003
primitive neuroectodermal tumor -1.300 0.012
pediatric high grade glioma -1.400 0.002

Synonym

Accession Q9NY28 B2RU02
Symbols GALNAC-T8

Gene

PANTHER Protein Class (2)

Gene RIF (4)

PMID Text
24038392 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.
23034592 GALNT8 variants were associated with treatment outcome independently of HCV genotype.
20800603 Observational study of gene-disease association. (HuGE Navigator)
12438318 This enzyme initiates O-glycan synthesis in IgA1 the hinge region.

AA Sequence

MMFWRKLPKALFIGLTLAIAVNLLLVFSSKGTLQNLFTGGLHRELPLHLNKRYGAVIKRLSHLEVELQDL      1 - 70
KESMKLALRQQENVNSTLKRAKDEVRPLLKAMETKVNETKKHKTQMKLFPHSQLFRQWGEDLSEAQQKAA     71 - 140
QDLFRKFGYNAYLSNQLPLNRTIPDTRDYRCLRKTYPSQLPSLSVILIFVNEALSIIQRAITSIINRTPS    141 - 210
RLLKEIILVDDFSSNGELKVHLDEKIKLYNQKYPGLLKIIRHPERKGLAQARNTGWEAATADVVAILDAH    211 - 280
IEVNVGWAEPILARIQEDRTVIVSPVFDNIRFDTFKLDKYELAVDGFNWELWCRYDALPQAWIDLHDVTA    281 - 350
PVKSPSIMGILAANRHFLGEIGSLDGGMLIYGGENVELSLRVWQCGGKVEILPCSRIAHLERHHKPYALD    351 - 420
LTAALKRNALRVAEIWMDEHKHMVYLAWNIPLQNSGIDFGDVSSRMALREKLKCKTFDWYLKNVYPLLKP    421 - 490
LHTIVGYGRMKNLLDENVCLDQGPVPGNTPIMYYCHEFSSQNVYYHLTGELYVGQLIAEASASDRCLTDP    491 - 560
GKAEKPTLEPCSKAAKNRLHIYWDFKPGGAVINRDTKRCLEMKKDLLGSHVLVLQTCSTQVWEIQHTVRD    561 - 630
WGQTNSQ                                                                   631 - 637
//

Text Mined References (7)

PMID Year Title
24038392 2014 Clinically significant missense variants in human GALNT3, GALNT8, GALNT12, and GALNT13 genes: intriguing in silico findings.
23034592 2013 Single-nucleotide polymorphisms in GALNT8 are associated with the response to interferon therapy for chronic hepatitis C.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12438318 2003 Initiation of O-glycan synthesis in IgA1 hinge region is determined by a single enzyme, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2.
10767557 2000 Molecular cloning of a novel human UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase, GalNAc-T8, and analysis as a candidate autosomal dominant hypophosphatemic rickets (ADHR) gene.