1. Home
  2. Targets
  3. transferase
  4. glycosyltransferase
  5. N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase

Tbio N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase

Isoform C: Determines the expression of the blood group I antigen in erythrocytes.

This gene encodes the enzyme responsible for formation of the blood group I antigen. The i and I antigens are distinguished by linear and branched poly-N-acetyllactosaminoglycans, respectively. The encoded protein is the I-branching enzyme, a beta-1,6-N-acetylglucosaminyltransferase responsible for the conversion of fetal i antigen to adult I antigen in erythrocytes during embryonic development. Mutations in this gene have been associated with adult i blood group phenotype. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

 Comments

Property Summary

NCBI Gene PubMed Count 25
PubMed Score 69.93
PubTator Score 35.92

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (6)

Disease Target Count P-value
osteosarcoma 7933 2.18325028561817E-8
malignant mesothelioma 3163 2.90522531988696E-6
tuberculosis 1563 4.73743135209275E-6
colon cancer 1475 1.44375416098048E-5
lung cancer 4473 1.80232280789297E-5
sonic hedgehog group medulloblastoma 1482 2.34846355651111E-5
cystic fibrosis 1670 9.49333382516739E-5
atypical teratoid/rhabdoid tumor 1095 9.33123826462822E-4
pilocytic astrocytoma 3086 0.00306325890356435
pituitary cancer 1972 0.0114951980196718
Breast cancer 3099 0.0132983936096028
ulcerative colitis 2087 0.0152261622595612
acute myeloid leukemia 785 0.0180406810071959
active Crohn's disease 918 0.0325558239054688
Disease Target Count Z-score Confidence
Cataract 104 0.0 4.0
Disease Target Count
Cataract 13, with adult i phenotype 1

Expression

  Differential Expression (14)

Disease log2 FC p
malignant mesothelioma 2.800 0.000
osteosarcoma -4.619 0.000
cystic fibrosis 1.864 0.000
atypical teratoid/rhabdoid tumor 2.000 0.001
tuberculosis 2.100 0.000
colon cancer -3.000 0.000
lung cancer -2.100 0.000
active Crohn's disease -1.491 0.033
ulcerative colitis -2.000 0.015
pilocytic astrocytoma 1.400 0.003
sonic hedgehog group medulloblastoma 2.800 0.000
Breast cancer -1.100 0.013
acute myeloid leukemia -1.400 0.018
pituitary cancer -1.500 0.011

Synonym

Accession Q8N0V5 Q06430 Q5T4J1 Q5W0E9 Q6T5E5 Q8NFS9 N-acetylglucosaminyltransferase
Symbols II
CCAT
IGNT
ULG3
GCNT5
GCNT2C
NACGT1
NAGCT1
CTRCT13
bA421M1.1
bA360O19.2

Gene

GCNT2

PANTHER Protein Class (2)

  Ortholog (9)

Species Source
Macaque EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG
Horse OMA EggNOG
Opossum OMA EggNOG Inparanoid
Chicken OMA EggNOG
Anole lizard OMA EggNOG
Xenopus OMA EggNOG

 GO Function (1)

 GO Component (3)

 GO Process (13)

See all...

 Compartment GO Term (24)

See all...

 OMIM Term (3)

 MGI Term (6)

 HCA RNA Cell Line (53)

See all...

Pathway (3)

 UniProt Keyword (13)

See all...

Gene RIF (9)

PMID Text
26678556 GCNT2 expression is closely associated with invasive potential of prostate cancer.
25750292 Hypomethylation of the GCNT2 variant 2 reflected lymph node metastasis of colorectal cancer in the tumor and normal tissues.
21761136 An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group
21750175 Results show involvement of GCNT2 in EMT and TGF-beta signaling, and further glycosylation modification of E-cadherin by GCNT2, are the underlying integrative mechanisms for breast cancer metastasis.
21541272 In the family with the "ii" blood group a novel GCNT2 mutation was found in the cataract patients.
17855628 role of C/EBPalpha in the induction of the IGnTC gene as well as in I antigen expression
15882971 Observational study of gene-disease association. (HuGE Navigator)
15161861 A nonsense mutation in the GCNT2 gene isoforms is associated with autosomal recessive congenital cataract in four distantly related Arab families from Israel.
12244172 The I carbohydrate antigen interacts simultaneously with the entire hydrophobic patch in framework region 1 and with the outside surface of Ig heavy chain complementarity-determining region 3, leaving most of the site available for binding other antigens.

AA Sequence 

MMGSWKHCLFSASLISALIFVFVYNTELWENKRFLRAALSNASLLAEACHQIFEGKVFYPTENALKTTLD      1 - 70
EATCYEYMVRSHYVTETLSEEEAGFPLAYTVTIHKDFGTFERLFRAIYMPQNVYCVHLDQKATDAFKGAV     71 - 140
KQLLSCFPNAFLASKKESVVYGGISRLQADLNCLEDLVASEVPWKYVINTCGQDFPLKTNREIVQYLKGF    141 - 210
KGKNITPGVLPPDHAVGRTKYVHQELLNHKNSYVIKTTKLKTPPPHDMVIYFGTAYVALTRDFANFVLQD    211 - 280
QLALDLLSWSKDTYSPDEHFWVTLNRIPGVPGSMPNASWTGNLRAIKWSDMEDRHGGCHGHYVHGICIYG    281 - 350
NGDLKWLVNSPSLFANKFELNTYPLTVECLELRHRERTLNQSETAIQPSWYF                      351 - 402
//

Text Mined References (27)

PMID Year Title
26678556 2016 I-branching N-acetylglucosaminyltransferase regulates prostate cancer invasiveness by enhancing ?5?1 integrin signaling.
25750292 2015 Aberrant methylation of GCNT2 is tightly related to lymph node metastasis of primary CRC.
21761136 2012 An Alu repeat-mediated genomic GCNT2 deletion underlies congenital cataracts and adult i blood group.
21750175 2011 Engagement of I-branching {beta}-1, 6-N-acetylglucosaminyltransferase 2 in breast cancer metastasis and TGF-{beta} signaling.
21541272 2011 Hematologic biomarkers in childhood cataracts.
17855628 2007 I branching formation in erythroid differentiation is regulated by transcription factor C/EBPalpha.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15882971 2005 An A/G polymorphism of core 2 branching enzyme gene is associated with prostate cancer.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15161861 2004 A nonsense mutation in the glucosaminyl (N-acetyl) transferase 2 gene (GCNT2): association with autosomal recessive congenital cataracts.
More...