COLGALT2 (collagen beta(1-O)galactosyltransferase 2)

2014-11-01  

Identity

HGNC
LOCATION
1q25.3
LOCUSID
ALIAS
C1orf17,ColGalT 2,GLT25D2
FUSION GENES

Other Information

Locus ID:

NCBI: 23127
MIM: 617533
HGNC: 16790
Ensembl: ENSG00000198756

Variants:

dbSNP: 23127
ClinVar: 23127
TCGA: ENSG00000198756
COSMIC: COLGALT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000198756ENST00000361927Q8IYK4
ENSG00000198756ENST00000367520Q5SXQ3
ENSG00000198756ENST00000367521Q5SXQ5
ENSG00000198756ENST00000649786A0A3B3IT37

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Lysine degradationKEGGko00310
Other types of O-glycan biosynthesisKEGGko00514
Lysine degradationKEGGhsa00310
Other types of O-glycan biosynthesisKEGGhsa00514
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
365380112023Mediation of the Same Epigenetic and Transcriptional Effect by Independent Osteoarthritis Risk-Conferring Alleles on a Shared Target Gene, COLGALT2.3
372087012023Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues.2
365380112023Mediation of the Same Epigenetic and Transcriptional Effect by Independent Osteoarthritis Risk-Conferring Alleles on a Shared Target Gene, COLGALT2.3
372087012023Osteoarthritis genetic risk acting on the galactosyltransferase gene COLGALT2 has opposing functional effects in articulating joint tissues.2
337603862021Genetic and Epigenetic Interplay Within a COLGALT2 Enhancer Associated With Osteoarthritis.18
337839892021COLGALT2 is overexpressed in ovarian cancer and interacts with PLOD3.7
337603862021Genetic and Epigenetic Interplay Within a COLGALT2 Enhancer Associated With Osteoarthritis.18
337839892021COLGALT2 is overexpressed in ovarian cancer and interacts with PLOD3.7
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.28
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.28
190750072009Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases.60
190750072009Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases.60

Citation

Dessen P

COLGALT2 (collagen beta(1-O)galactosyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62009/colgalt2-(collagen-beta(1-o)galactosyltransferase-2)