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

2014-11-01  

Identity

HGNC
COLGALT2
LOCATION
1q25.3
LOCUSID
23127
ALIAS
C1orf17,ColGalT 2,GLT25D2
FUSION GENES
Show Gene Fusions

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
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
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
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 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
190750072009Core glycosylation of collagen is initiated by two beta(1-O)galactosyltransferases.37
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19

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