GALNT12 (polypeptide N-acetylgalactosaminyltransferase 12)

2007-02-01  

Identity

HGNC
LOCATION
9q22.33
LOCUSID
ALIAS
CRCS1,GalNAc-T12

Other Information

Locus ID:

NCBI: 79695
MIM: 610290
HGNC: 19877
Ensembl: ENSG00000119514

Variants:

dbSNP: 79695
ClinVar: 79695
TCGA: ENSG00000119514
COSMIC: GALNT12

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119514ENST00000375011Q8IXK2
ENSG00000119514ENST00000610463A0A087WT76

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Mucin type O-glycan biosynthesisKEGGko00512
Mucin type O-glycan biosynthesisKEGGhsa00512
Metabolic pathwaysKEGGhsa01100
O-glycan biosynthesis, mucin type coreKEGGhsa_M00056
O-glycan biosynthesis, mucin type coreKEGGM00056
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
O-linked glycosylationREACTOMER-HSA-5173105
O-linked glycosylation of mucinsREACTOMER-HSA-913709

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
196175662009Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.67
196175662009Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.67
121357692002Molecular cloning and characterization of a novel member of the UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase family, pp-GalNAc-T12.20
224613262012Inherited deleterious variants in GALNT12 are associated with CRC susceptibility.17
155577892004Expression of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase-12 in gastric and colonic cancer cell lines and in human colorectal cancer.16
240383922014Clinically significant missense variants in human GALNT3, GALNT8, GALNT12, and GALNT13 genes: intriguing in silico findings.7
241154502014GALNT12 is not a major contributor of familial colorectal cancer type X.7
297490452018Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.4
290958672017Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.2

Citation

Dessen P

GALNT12 (polypeptide N-acetylgalactosaminyltransferase 12)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46300/galnt12