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