GCNT2 (glucosaminyl (N-acetyl) transferase 2 (I blood group))

2011-10-01  

Identity

HGNC
GCNT2
LOCATION
6p24.3
LOCUSID
2651
ALIAS
CCAT,CTRCT13,GCNT2C,GCNT5,IGNT,II,NACGT1,NAGCT1,ULG3,bA360O19.2,bA421M1.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 2651
MIM: 600429
HGNC: 4204
Ensembl: ENSG00000111846

Variants:

dbSNP: 2651
ClinVar: 2651
TCGA: ENSG00000111846
COSMIC: GCNT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111846ENST00000265012Q8N0V5
ENSG00000111846ENST00000316170Q8N0V5
ENSG00000111846ENST00000379597Q8N0V5
ENSG00000111846ENST00000410107B7ZBL3
ENSG00000111846ENST00000495262Q8N0V5
ENSG00000111846ENST00000640968A0A1W2PRW1

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
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
Glycosphingolipid biosynthesis - lacto and neolacto seriesKEGGko00601
Glycosphingolipid biosynthesis - lacto and neolacto seriesKEGGhsa00601
Metabolic pathwaysKEGGhsa01100

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
151618612004A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.42
122441722002Evidence for involvement of a hydrophobic patch in framework region 1 of human V4-34-encoded Igs in recognition of the red blood cell I antigen.29
217501752011Engagement of I-branching {beta}-1, 6-N-acetylglucosaminyltransferase 2 in breast cancer metastasis and TGF-{beta} signaling.24
217611362012An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.8
285427792017Downregulation of miR-199a/b-5p is associated with GCNT2 induction upon epithelial-mesenchymal transition in colon cancer.8
257502922015Aberrant methylation of GCNT2 is tightly related to lymph node metastasis of primary CRC.5
266785562016I-branching N-acetylglucosaminyltransferase regulates prostate cancer invasiveness by enhancing α5β1 integrin signaling.5
215412722011Hematologic biomarkers in childhood cataracts.4
158829712005An A/G polymorphism of core 2 branching enzyme gene is associated with prostate cancer.3
279360672016Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital Cataracts.3

Citation

Dessen P

GCNT2 (glucosaminyl (N-acetyl) transferase 2 (I blood group))

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/gene/52469/gcnt2