GYG2 - glycogenin 2 Gene

Homo sapiens

Also known as GN2; GN-2

Gene ID: 8908 | Gene type: protein coding

About 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).

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Reference	Source
enables glycogenin glucosyltransferase activity	EXP EXP: Inferred from Experiment	9346895	GOA
enables glycogenin glucosyltransferase activity	IDA IDA: Inferred from direct assay	9857012	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16189514	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in glycogen biosynthetic process	IDA IDA: Inferred from direct assay	9857012	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GYG2 Protein Structure

Glyco_transf_8

0
100
200
300
400
501 a.a.

Protein Preferred Names

Protein Names

glycogenin-2

glycogenin glucosyltransferase

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05931	GYG2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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