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
354610732022GALNT12 is associated with the malignancy of glioma and promotes glioblastoma multiforme in vitro by activating Akt signaling.5
354610732022GALNT12 is associated with the malignancy of glioma and promotes glioblastoma multiforme in vitro by activating Akt signaling.5
335938242021Interaction between GALNT12 and C1GALT1 Associates with Galactose-Deficient IgA1 and IgA Nephropathy.16
335938242021Interaction between GALNT12 and C1GALT1 Associates with Galactose-Deficient IgA1 and IgA Nephropathy.16
297490452018Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.14
297490452018Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.14
290958672017Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.6
290958672017Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome.6
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.10
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.10
224613262012Inherited deleterious variants in GALNT12 are associated with CRC susceptibility.24
224613262012Inherited deleterious variants in GALNT12 are associated with CRC susceptibility.24
196175662009Inactivating germ-line and somatic mutations in polypeptide N-acetylgalactosaminyltransferase 12 in human colon cancers.87

Citation

Dessen P

GALNT12 (polypeptide N-acetylgalactosaminyltransferase 12)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46300/css/lib/favicon/apple-touch-icon.png