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  2. A3GALT2 - alpha 1,3-galactosyltransferase 2 Gene

A3GALT2 - alpha 1,3-galactosyltransferase 2 Gene

中文名称:α 1,3-半乳糖基转移酶 2

种属: Homo sapiens

同用名: IGB3S; IGBS3S; A3GALT2P

基因 ID: 127550 | 基因类型: protein coding

关于 A3GALT2

Cytogenetic location: 1p35.1 Genomic coordinates (GRCh38): 1:33,306,766-33,321,098 (from NCBI)

This gene has 1 transcript (splice variant), 220 orthologues and 3 paralogues. Low expression observed in reference dataset.

功能概要

预计可启用 N-乙酰乳糖胺 3-α-半乳糖基转移酶活性和 α-1,3-半乳糖基转移酶活性。预计参与脂质糖基化。预测作用于鞘糖脂生物合成过程的上游或内部。预测位于高尔基池膜内。预计是膜的组成部分。预测在高尔基体和囊泡中有活性。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable N-acetyllactosaminide 3-alpha-galactosyltransferase activity and alpha-1,3-galactosyltransferase activity. Predicted to be involved in lipid glycosylation. Predicted to act upstream of or within glycosphingolipid biosynthetic process. Predicted to be located in Golgi cisterna membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus and vesicle. [provided by Alliance of Genome Resources, Apr 2022]

A3GALT2 基因产物(1)

mRNA Protein Name
NM_001080438.1 NP_001073907.1 alpha-1,3-galactosyltransferase 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
NOT enables alpha-1,3-galactosyltransferase activity IDA
IDA: 通过直接分析推断
18630988 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

A3GALT2 蛋白结构

Glyco_transf_6

Glyco_transf_6: Glycosyltransferase family 6 (63 - 340)

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

alpha-1,3-galactosyltransferase 2

alpha 1,3-galactosyltransferase 2, pseudogene

关联疾病

疾病名称 别名
Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C

NPC1

Niemann-Pick Disease, Type D

Niemann-Pick Disease Type C1

Niemann-Pick Disease With Cholesterol Esterification Block

Niemann-Pick Disease, Subacute Juvenile Form

Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia

Npc

Niemann-Pick Disease, Chronic Neuronopathic Form

Niemann-Pick Disease Without Sphingomyelinase Deficiency

Niemann-Pick Disease Type C

Niemann-Pick Disease Type D

Niemann-Pick C1 Disease

Niemann-Pick Disease C1

Niemann-Pick Disease Chronic Neuronopathic Form

Niemann-Pick Disease Nova Scotian Type

Niemann-Pick Disease Subacute Juvenile Form

Niemann-Pick Disease Type Ii

Niemann-Picks Disease Type C

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus A3GALT2 MGD MGI:2685279
Bos taurus A3GALT2 VGNC VGNC:55323
Felis catus A3GALT2 VGNC VGNC:107482
Canis familiaris A3GALT2 VGNC VGNC:52212
Macaca mulatta A3GALT2 VGNC VGNC:69550
Rattus norvegicus A3GALT2 RGD RGD:727913