1. Gene
  2. GYG2 - glycogenin 2 Gene

GYG2 - glycogenin 2 Gene

中文名称:糖原 2

种属: Homo sapiens

同用名: GN2; GN-2

基因 ID: 8908 | 基因类型: protein coding

关于 GYG2

Cytogenetic location: Xp22.33 Genomic coordinates (GRCh38): X:2,828,930-2,882,818 (from NCBI)

This gene has 9 transcripts (splice variants), 170 orthologues and 1 paralogue. Biased expression in fat (RPKM 111.6) and liver (RPKM 4.8).

功能概要

该基因编码糖原蛋白家族的一个成员。糖原蛋白是一种自糖基化蛋白,参与糖原生物合成的起始反应。 3 号染色体上的一个基因编码肌糖原,这个 X 连锁基因编码主要存在于肝脏中的糖原;两者都参与血糖稳态。该基因在 Y 染色体上有一个短版本,它被 3' 截断,不能制造功能性蛋白质。已鉴定出编码不同亚型的多个可变剪接转录本变体。[RefSeq 提供,2010 年 5 月]

This gene encodes a member of the the glycogenin family. Glycogenin is a self-glucosylating protein involved in the initiation reactions of glycogen biosynthesis. A gene on chromosome 3 encodes the muscle glycogenin and this X-linked gene encodes the glycogenin mainly present in liver; both are involved in blood glucose homeostasis. This gene has a short version on chromosome Y, which is 3' truncated and can not make a functional protein. Multiple alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, May 2010]

GYG2 基因产物(5)

mRNA Protein Name
NM_001079855.2 NP_001073324.1 glycogenin-2 isoform a
NM_001184702.2 NP_001171631.1 glycogenin-2 isoform c
NM_001184703.2 NP_001171632.1 glycogenin-2 isoform d
NM_001184704.2 NP_001171633.1 glycogenin-2 isoform e
NM_003918.3 NP_003909.2 glycogenin-2 isoform b
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 glycogenin glucosyltransferase activity EXP
EXP: 通过实验结果推断
9346895 GOA
enables glycogenin glucosyltransferase activity IDA
IDA: 通过直接分析推断
9857012 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16189514 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in glycogen biosynthetic process IDA
IDA: 通过直接分析推断
9857012 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

GYG2 蛋白结构

Glyco_transf_8

Glyco_transf_8: Glycosyl transferase family 8 (40 - 255)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 501 a.a.
蛋白主名 其他名称

glycogenin-2

glycogenin glucosyltransferase

GYG2 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
GYG2 O15488 GYS1 Homo sapiens P13807
Anti Tag CoIP
33961781
种属内
GYG2 O15488 GYS1 Homo sapiens P13807
Anti Tag CoIP
35271311
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Glycogen Storage Disease Type 0

Glycogen Synthase Deficiency

Glycogen Storage Disease 0

Glycogen Synthetase Deficiency

Gsd 0

Gsd Type 0

Hypoglycemia With Deficiency Of Glycogen Synthetase

Glycogen Storage Disease

Glycogenosis

Glycogenoses

Gsd

Storage Disease, Glycogen

Gsd - [Glycogen Storage Disease]

Glycogen Thesaurismosis

Diffuse Glycogenosis

Generalised Glycogen Storage Disease

Generalised Glycogenosis

Generalised Glycogen Storage Disease Of Infants

Glycogen Synthase Deficiency

Glycogen Storage Disease Vi

Glycogen Storage Disease Type Vi

Hers Disease

GSD6

Gsd Vi

Hepatic Glycogen Phosphorylase Deficiency

Phosphorylase Deficiency Glycogen-Storage Disease Of Liver

Hers' Disease

Glycogen Storage Disease Type 6

Glycogen Storage Disease 6

Gsd Type Vi

Glycogenosis Type Vi

Glycogen Storage Disease, Type Vi

Hepatophosphorylase Deficiency Glycogenosis

Liver Phosphorylase Deficiency Syndrome

Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency

Gsd Due To Liver Glycogen Phosphorylase Deficiency

Gsd Type 6

Glycogenosis Due To Liver Glycogen Phosphorylase Deficiency

Glycogenosis Type 6

Hepatic Phosphorylase Deficiency

Liver Glycogen Phosphorylase Deficiency

Her

Glycogen Storage Disease Vib

Gsd-Vi

Liver Phosphorylase Deficiency

Storage Disease, Glycogen, Type Vi

Myoclonic Epilepsy Of Lafora

Lafora Disease

Epilepsy, Progressive Myoclonic 2b

EPM2

Melf

Epilepsy, Progressive Myoclonic 2a

Epm2a

Lafora'S Disease

Lafora Body Disease

Lbd

Epilepsy, Progressive Myoclonic, 2a

Lafora Progressive Myoclonic Epilepsy

Epilepsy Progressive Myoclonic 2

Lafora Body Disorder

Pme Type 2

Progressive Myoclonic Epilepsy Type 2

Progressive Myoclonus Epilepsy Type 2

Epilepsy, Progressive Myoclonic 2

Epm2b

Ld

Progressive Myoclonic Epilepsy 2

Progressive Myoclonic Epilepsy 2a

Progressive Myoclonic Epilepsy 2b

Progressive Myoclonic Epilepsy Lafora Type

Epilepsy, Myoclonic, Of Lafora

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