GYG2 - glycogenin 2 Gene

Also Known as GN2; GN-2

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 8908

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
Molecular Function GO Annotation Evidence References 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 References 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

Glyco_transf_8: Glycosyl transferase family 8 (40 - 255)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 501 a.a.
Protein Preferred Names Protein Names

glycogenin-2

  • glycogenin glucosyltransferase

GYG2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GYG2 O15488 GYS1 Homo sapiens P13807 33961781
Intra
GYG2 O15488 GYS1 Homo sapiens P13807 35271311
Cross: Cross-species interaction Intra: Intraspecies interaction

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