1. Gene
  2. GALNT2 - polypeptide N-acetylgalactosaminyltransferase 2 Gene

GALNT2 - polypeptide N-acetylgalactosaminyltransferase 2 Gene

中文名称:多肽 N-乙酰半乳糖氨基转移酶 2

种属: Homo sapiens

同用名: CDG2T; GalNAc-T2

基因 ID: 2590 | 基因类型: protein coding

关于 GALNT2

Cytogenetic location: 1q42.13 Genomic coordinates (GRCh38): 1:230,057,789-230,282,122 (from NCBI)

This gene has 5 transcripts (splice variants), 210 orthologues, 19 paralogues and is associated with 1 phenotype. Ubiquitous expression in ovary (RPKM 16.5), appendix (RPKM 14.3) and 25 other tissues.

功能概要

该基因编码糖基转移酶 2 蛋白家族的一个成员。该家族的成员在高尔基体中启动肽的粘蛋白型 O-糖基化。编码的蛋白质可能参与免疫球蛋白 A1 铰链区的 O-连接糖基化。该基因可能会影响甘油三酯水平,并可能与 2 型糖尿病以及多种癌症有关。可变剪接导致多个转录本变体。[RefSeq 提供,2014 年 5 月]

This gene encodes a member of the Glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of Peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of Cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

GALNT2 基因产物(2)

mRNA Protein Name
NM_001291866.2 NP_001278795.1 polypeptide N-acetylgalactosaminyltransferase 2 isoform 2
NM_004481.5 NP_004472.1 polypeptide N-acetylgalactosaminyltransferase 2 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables manganese ion binding IDA
IDA: 通过直接分析推断
9295285 GOA
enables polypeptide N-acetylgalactosaminyltransferase activity IDA
IDA: 通过直接分析推断
9295285 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21699783 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in O-glycan processing IDA
IDA: 通过直接分析推断
18562306 GOA
involved in protein O-linked glycosylation IDA
IDA: 通过直接分析推断
16434399 GOA
involved in protein O-linked glycosylation via serine IDA
IDA: 通过直接分析推断
9295285 GOA
involved in protein O-linked glycosylation via threonine IDA
IDA: 通过直接分析推断
9295285 GOA
involved in protein maturation IDA
IDA: 通过直接分析推断
12438318 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
colocalizes with Golgi apparatus IDA
IDA: 通过直接分析推断
12506059 GOA
located in Golgi apparatus IDA
IDA: 通过直接分析推断
9852147 GOA
located in Golgi stack IDA
IDA: 通过直接分析推断
9852147 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
12506059 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

GALNT2 蛋白结构

Glycos_transf_2

Glycos_transf_2: Glycosyl transferase family 2 (139 - 303)

Ricin_B_lectin

Ricin_B_lectin: Ricin-type beta-trefoil lectin domain (453 - 563)

  • 0
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  • 200
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  • 500
  • 571 a.a.
蛋白主名 其他名称

polypeptide N-acetylgalactosaminyltransferase 2

UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2

GALNT2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
GALNT2 Q10471 MRM3 Homo sapiens Q9HC36 32296183
种属内
GALNT2 Q10471 MRM3 Homo sapiens Q9HC36 32296183
种属内
GALNT2 Q10471 MRM3 Homo sapiens Q9HC36 32296183
种属内
GALNT2 Q10471 COQ9 Homo sapiens O75208 32296183
种属内
GALNT2 Q10471 COQ9 Homo sapiens O75208 32296183
种属内
GALNT2 Q10471 BCL2L13 Homo sapiens Q9BXK5 32296183
种属内
GALNT2 Q10471 BCL2L13 Homo sapiens Q9BXK5 32296183
种属内
GALNT2 Q10471 BCL2L13 Homo sapiens Q9BXK5 32296183
种属内
GALNT2 Q10471 KASH5 Homo sapiens Q8N6L0 32296183
种属内
GALNT2 Q10471 KASH5 Homo sapiens Q8N6L0 32296183
种属内
GALNT2 Q10471 KASH5 Homo sapiens Q8N6L0 32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

重组 GALNT2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76355 GALNT2 Protein, Human (HEK293, His) Q10471-1/NP_004472.1 (K52-Q571) ≥95%

关联疾病

疾病名称 别名
Congenital Disorder Of Glycosylation, Type Iit

CDG2T

Cdg Iit

Cdgiit

Congenital Disorder Of Glycosylation 2t

Methylmalonic Aciduria, Cblb Type

Methylmalonic Aciduria Cblb Type

Methylmalonic Acidemia Cblb Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Complementation Type

Methylmalonic Acidemia, Cblb Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Due To Defect In Synthesis Of Adenosylcobalamin, Cblb Type

Methylmalonic Aciduria, Vitamin B12-Responsive, Cblb Type

Vitamin B12-Responsive Methylmalonic Acidemia Type Cblb

Vitamin B12-Responsive Methylmalonic Aciduria, Type Cblb

Methylmalonic Aciduria Type Cblb

MMAB

Methylmalonic Aciduria Type B

Vitamin B12 Responsive Methylmalonic Acidemia Type Cbl B

Vitamin B12 Responsive Methylmalonic Aciduria Type Cbl B

Aciduria, Methylmalonic, Cblb Type

Methylmalonic Acidemia

Methylmalonic Aciduria

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation

CDG1N

Congenital Disorders Of Glycosylation

Cdg In

Cdgin

Congenital Disorder Of Glycosylation 1n

Carbohydrate-Deficient Glycoprotein Syndrome

Cdg

Rft1-Cdg

Cdg-In

Congenital Disorder Of Glycosylation Type In

Carbohydrate Deficient Glycoprotein Syndrome

Cdg Syndrome

Congenital Disorder Of Glycosylation In

Carbohydrate-Deficient Glycoprotein Syndromes

Cdg Syndrome Type In

Carbohydrate Deficient Glycoprotein Syndrome Type In

Congenital Disorder Of Glycosylation Type 1n

Man5glcnac2-Pp-Dol Flippase Deficiency

Glycosylation, Congenital Disorder Of

Glycosylation, Congenital Disorder Of, Type In

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
Bos taurus GALNT2 VGNC VGNC:29231
Canis familiaris GALNT2 VGNC VGNC:41094
Rattus norvegicus GALNT2 RGD RGD:1310692
Felis catus GALNT2 VGNC VGNC:62450
Macaca mulatta GALNT2 VGNC VGNC:72872
Mus musculus GALNT2 MGD MGI:894694
Others GALNT2 NCBI