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

GALNT2 - polypeptide N-acetylgalactosaminyltransferase 2 Gene

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

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

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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  • 500
  • 571 a.a.
蛋白主名 其他名称

polypeptide N-acetylgalactosaminyltransferase 2

UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2

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

相关产品

Pre-clinical Phase
生物活性分子 (4)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-E70139 UDP-GalNAc:β-1,3-N-acetylgalactosaminyltransferase 2 / 否
HY-RS01301 B3GALNT2 Human Pre-designed siRNA Set A / 否
HY-RS01316 B4GALNT2 Human Pre-designed siRNA Set A / 否
HY-RS05256 GALNT2 Human Pre-designed siRNA Set A / 否

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
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