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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 (Glycogenin 2) is a Protein Coding gene. Diseases associated with GYG2 include Glycogen Storage Disease Type 0 and Glycogen Storage Disease. Among its related pathways are Glucose metabolism and HIV Life Cycle. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and glycogenin glucosyltransferase activity. An important paralog of this gene is GYG1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH0XJ002828 | Promoter/Enhancer | 1.9 | EPDnew Ensembl ENCODE CraniofacialAtlas | 255.8 | +1.0 | 988 | 3 | MXD4 KDM6A THAP11 VEZF1 SMAD4 SAP130 RARA ZFP91 BCL6 HNF4A | GYG2 lnc-ARSD-6 ARSD | |
GH0XJ002847 | Enhancer | 0.7 | Ensembl ENCODE | 4.6 | +20.3 | 20284 | 2.4 | CEBPA CEBPB TEAD3 CEBPG ZC3H11A NFIL3 HLF TEAD1 | GYG2 GYG2-AS1 lnc-ARSD-6 ARSD | |
GH0XJ002783 | Enhancer | 0.3 | FANTOM5 | 1.6 | -45.0 | -44999 | 0.3 | ZNF512 | ARSH GYG2 piR-59907-031 HSALNG0136387 XG | |
GH0XJ002802 | Enhancer | 0.9 | Ensembl ENCODE dbSUPER | 0.3 | -24.7 | -24677 | 3.7 | IKZF1 ZIC2 FOSL1 TCF7L2 L3MBTL2 ARID1B DPF2 SMARCE1 ATF3 FOS | HSALNG0136387 NONHSAG055779.2 GYG2 XG | |
GH0XJ002824 | Enhancer | 0.5 | Ensembl | 0.7 | -4.3 | -4312 | 0.4 | RXRA REST HNF4A YY1 SP1 | lnc-ARSD-2 GYG2 HSALNG0136389 XG |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008466 | glycogenin glucosyltransferase activity | EXP,IDA | 9857012 |
GO:0016740 | transferase activity | IEA | -- |
GO:0016757 | transferase activity, transferring glycosyl groups | IEA,IBA | 21873635 |
GO:0046872 | metal ion binding | IEA | -- |
GO:0102751 | UDP-alpha-D-glucose:glucosyl-glycogenin alpha-D-glucosyltransferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005737 | cytoplasm | IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Glucose metabolism | ||
2 | Myoclonic epilepsy of Lafora | ||
3 | Metabolism |
.40
|
|
4 | Galactose metabolism | ||
5 | HIV Life Cycle |
.45
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005978 | glycogen biosynthetic process | TAS | -- |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Glycogen |
|
9005-79-2 |
|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10a | · | 10b | ^ | 11a | · | 11b | ^ | 12 | ^ | 13a | · | 13b | ^ | 14a | · | 14b | · | 14c | · | 14d |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GYG2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GYG2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GYG2 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | GYG2 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GYG2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GYG2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GYG2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | gyg2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | gyg2 31 |
|
ManyToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | Glycogenin 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | gyg-1 30 31 |
|
ManyToMany | |
T25E12.5 32 |
|
|
|||
Y73F8A.31 32 |
|
|
|||
M116.2 31 32 |
|
ManyToMany | |||
gyg-2 31 |
|
ManyToMany | |||
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | GLG2 31 |
|
ManyToMany | |
GLG1 31 |
|
ManyToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.2083 30 |
|
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1012936249 | Likely Benign: not specified | 2,828,984(+) |
G/C NM_001079855.2(GYG2):c.-129+9G>C |
INTRON | |
rs1051778653 | Uncertain Significance: not provided | 2,855,023(+) |
A/G NM_001079855.2(GYG2):c.355A>G (p.Arg119Gly) |
MISSENSE_VARIANT,FIVE_PRIME_UTR | |
rs1057524007 | Likely Benign: not specified | 2,843,236(+) |
C/T NM_001079855.2(GYG2):c.31C>T (p.Leu11=) |
SYNONYMOUS_VARIANT,INTRON | |
rs10871871 | Benign: not provided | 2,861,289(+) |
T/C NM_001079855.2(GYG2):c.838-233T>C |
INTRON | |
rs11152550 | Benign: not provided | 2,859,519(+) |
A/G NM_001079855.2(GYG2):c.615-324A>G |
INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1392e199 | CNV | deletion | 23128226 |
dgv264e55 | CNV | gain | 17911159 |
esv2739883 | CNV | deletion | 23290073 |
esv2739888 | CNV | deletion | 23290073 |
esv2739889 | CNV | deletion | 23290073 |
esv2739890 | CNV | deletion | 23290073 |
esv2739891 | CNV | deletion | 23290073 |
esv2739892 | CNV | deletion | 23290073 |
esv2739893 | CNV | deletion | 23290073 |
esv2739894 | CNV | deletion | 23290073 |
esv2758855 | CNV | gain | 17122850 |
esv32744 | CNV | loss | 17666407 |
esv34985 | CNV | gain | 17911159 |
esv3573433 | CNV | loss | 25503493 |
esv3576721 | CNV | gain | 25503493 |
nsv1115252 | CNV | deletion | 24896259 |
nsv1142563 | CNV | tandem duplication | 24896259 |
nsv1152581 | CNV | duplication | 26484159 |
nsv516388 | CNV | gain | 19592680 |
nsv526612 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
glycogen storage disease type 0 |
|
|
glycogen storage disease |
|
|
myoclonic epilepsy of lafora |
|
|
glycogen storage disease vi |
|
|
gastric dilatation |
|
|