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

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

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：氨基葡萄糖 (N-乙酰基) 转移酶 2 (I 血型)

种属: Homo sapiens

同用名: II; CCAT; IGNT; ULG3; GCNT5; GCNT2C; NACGT1; NAGCT1; CTRCT13; bA421M1.1; bA360O19.2

基因 ID: 2651 | 基因类型: protein coding

关于 GCNT2

Cytogenetic location: 6p24.3-p24.2 Genomic coordinates (GRCh38): 6:10,521,351-10,629,368 (from NCBI)

This gene has 16 transcripts (splice variants), 1 gene allele, 164 orthologues, 8 paralogues and is associated with 4 phenotypes. Broad expression in prostate (RPKM 6.7), small intestine (RPKM 2.4) and 21 other tissues.

功能概要

该基因编码负责形成 I 型血型抗原的酶。 i 和 I 抗原分别由线性和支链聚-N-乙酰基乳糖胺聚糖区分。编码的蛋白质是 I 分支酶，一种 β-1,6-N-乙酰氨基葡萄糖转移酶，负责在胚胎发育过程中将胎儿 i 抗原转化为红细胞中的成人 I 抗原。该基因的突变与成人 i 血型表型有关。已经描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2008 年 7 月]

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]

GCNT2 基因产物(4)

mRNA Protein Name
NM_001374747.1 NP_001361676.1 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform A
NM_001491.3 NP_001482.1 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform B
NM_145649.5 NP_663624.1 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform A
NM_145655.4 NP_663630.2 N-acetyllactosaminide beta-1,6-N-acetylglucosaminyl-transferase isoform C
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity IMP
IMP: 通过突变表型推断
12424189 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in maintenance of lens transparency IMP
IMP: 通过突变表型推断
12424189 GOA
involved in negative regulation of cell-substrate adhesion IMP
IMP: 通过突变表型推断
21750175 GOA
involved in positive regulation of ERK1 and ERK2 cascade IMP
IMP: 通过突变表型推断
21750175 GOA
involved in positive regulation of cell migration IMP
IMP: 通过突变表型推断
21750175 GOA
involved in positive regulation of epithelial to mesenchymal transition IMP
IMP: 通过突变表型推断
21750175 GOA
involved in positive regulation of heterotypic cell-cell adhesion IMP
IMP: 通过突变表型推断
21750175 GOA
involved in positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
IMP: 通过突变表型推断
21750175 GOA
involved in post-transcriptional regulation of gene expression IMP
IMP: 通过突变表型推断
21750175 GOA
involved in protein glycosylation IMP
IMP: 通过突变表型推断
12424189 GOA
involved in transforming growth factor beta receptor signaling pathway IMP
IMP: 通过突变表型推断
21750175 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

GCNT2 蛋白结构

Branch

Branch: Core-2/I-Branching enzyme (97 - 357)

  • 0
  • 100
  • 200
  • 300
  • 402 a.a.
蛋白主名 其他名称

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

I beta-1,6-N-acetylglucosaminyltransferase

关联疾病

疾病名称 别名
Cataract 13 With Adult I Phenotype

CTRCT13

Cataract 13, With Adult I Phenotype
Blood Group, I System

I Blood Group System

Adult I Phenotype Without Cataract

II

Ii Blood Group System
Cataract 44

CTRCT44

Total Early-Onset Cataract

Cataract 44 And Hypotrichosis

Cataract And Hypotrichosis

Cataract, Type 44
Cataract

Cataracts

Cat - [Cataract]

Cataract Form

Lens Opacity

Lens Opacities
Lacrimal Duct Obstruction

Blocked Lacrimal Canaliculus

Obstruction Of Lacrimal Canaliculus

Obstruction Of Lacrimal Ducts
Muscle Eye Brain Disease

Muscle-Eye-Brain Disease

Muscle-Eye-Brain Syndrome

Meb

Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3

Meb Syndrome

Santavuori Congenital Muscular Dystrophy
Hyperferritinemia With Or Without Cataract

Hyperferritinemia-Cataract Syndrome

Hhcs

Hereditary Hyperferritinemia With Congenital Cataracts

Hyperferritinemia, Hereditary, With Congenital Cataracts

Bonneau-Beaumont Syndrome

HRFTC

Hereditary Hyperferritinemia-Cataract Syndrome

Cataract-Hyperferritinemia Syndrome

Hyperferritinemia Cataract Syndrome

Hereditary Hyperferritinemia Cataract Syndrome
Galactosemia Ii

Galactokinase Deficiency

Galk Deficiency

Galactokinase Deficiency With Cataracts

Deficiency Of Galactokinase

GALAC2

Galk-D

Galactokinase Deficiency Galactosemia

Galactosemia 2

Galactosemia Type 2

Hereditary Galactokinase Deficiency

Galactokinase Deficiency, Cataract

Galactosemias

Galk - [Galactokinase Deficiency]
Ayme-Gripp Syndrome

AYGRP

Cataracts, Congenital, With Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, And Mental Retardation

Aymé-Gripp Syndrome

Fine-Lubinsky Syndrome

Brachycephaly-Deafness-Cataract-Intellectual Disability Syndrome

Brachycephaly-Hearing Loss-Cataract-Intellectual Disability Syndrome
疾病名称 别名
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-E70143 Glucosaminyl (N-acetyl) Transferase 2 / 否
HY-RS05340 GCNT2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus GCNT2 RGD RGD:1303198
Macaca mulatta GCNT2 VGNC VGNC:83425
Mus musculus GCNT2 MGD MGI:1100870
Felis catus GCNT2 VGNC VGNC:102432
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