GALNT12 (polypeptide N-acetylgalactosaminyltransferase 12)

2007-02-01  

Identity

HGNC
GALNT12
LOCATION
9q22.33
LOCUSID
79695
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

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/favicon/favicon/apple-touch-icon.png