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 | Target Count |
---|---|
Adult i Blood Group Phenotype | 1 |
CATARACT, CONGENITAL OR JUVENILE | 1 |
Congenital total cataract | 8 |
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 |
---|---|---|---|
Mast cell neoplasm | 7 | 4.276 | 2.1 |
Ophthalmia neonatorum | 3 | 4.145 | 2.1 |
Microphthalmia | 79 | 3.918 | 2.0 |
Cortical blindness | 15 | 3.098 | 1.5 |
Glaucoma | 135 | 3.02 | 1.5 |
Disease | Target Count |
---|---|
Cataract 13 With Adult I Phenotype | 1 |
Cataract Hutterite type | 2 |
Disease | Target Count |
---|---|
Cataract 13, with adult i phenotype | 1 |
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. |
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