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Protein

Glycogenin-2

Gene

GYG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Self-glucosylates, via an inter-subunit mechanism, to form an oligosaccharide primer that serves as substrate for glycogen synthase.

Catalytic activityi

UDP-alpha-D-glucose + glycogenin = UDP + alpha-D-glucosylglycogenin.

Cofactori

Mn2+Note: Divalent metal ions. Required for self-glucosylation. Manganese is the most effective.

Pathwayi: glycogen biosynthesis

This protein is involved in the pathway glycogen biosynthesis, which is part of Glycan biosynthesis.
View all proteins of this organism that are known to be involved in the pathway glycogen biosynthesis and in Glycan biosynthesis.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei119By similarity1

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionTransferase
Biological processGlycogen biosynthesis

Enzyme and pathway databases

BioCyciMetaCyc:HS00703-MONOMER
ReactomeiR-HSA-3322077 Glycogen synthesis
R-HSA-3785653 Myoclonic epilepsy of Lafora
R-HSA-3858516 Glycogen storage disease type 0 (liver GYS2)
R-HSA-3878781 Glycogen storage disease type IV (GBE1)
R-HSA-70221 Glycogen breakdown (glycogenolysis)
UniPathwayi
UPA00164

Protein family/group databases

CAZyiGT8 Glycosyltransferase Family 8

Names & Taxonomyi

Protein namesi
Recommended name:
Glycogenin-2 (EC:2.4.1.186)
Short name:
GN-2
Short name:
GN2
Gene namesi
Name:GYG2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000056998.18
HGNCiHGNC:4700 GYG2
MIMi300198 gene
neXtProtiNX_O15488

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi228Y → F: Loss of activity. 1
Mutagenesisi230Y → F: No loss of activity. 1

Organism-specific databases

DisGeNETi8908
OpenTargetsiENSG00000056998
PharmGKBiPA29078

Polymorphism and mutation databases

BioMutaiGYG2

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002151801 – 501Glycogenin-2Add BLAST501

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Glycosylationi228O-linked (Glc...) tyrosine1 Publication1
Modified residuei368PhosphoserineCombined sources1
Modified residuei399PhosphoserineCombined sources1
Modified residuei459PhosphoserineCombined sources1

Post-translational modificationi

Self-glycosylated by the transfer of glucose residues from UDP-glucose to itself, forming an alpha-1,4-glycan of around 10 residues attached to Tyr-228.1 Publication

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

MaxQBiO15488
PaxDbiO15488
PeptideAtlasiO15488
PRIDEiO15488
ProteomicsDBi48689
48690 [O15488-2]
48691 [O15488-3]
48692 [O15488-4]
48693 [O15488-5]
48694 [O15488-6]

PTM databases

iPTMnetiO15488
PhosphoSitePlusiO15488

Expressioni

Tissue specificityi

Expressed preferentially in liver, heart, and pancreas.

Gene expression databases

BgeeiENSG00000056998 Expressed in 206 organ(s), highest expression level in adipose tissue
CleanExiHS_GYG2
ExpressionAtlasiO15488 baseline and differential
GenevisibleiO15488 HS

Organism-specific databases

HPAiHPA005495
HPA064686

Interactioni

Subunit structurei

Homodimer, tightly complexed to glycogen synthase.

Protein-protein interaction databases

BioGridi114422, 17 interactors
IntActiO15488, 3 interactors
STRINGi9606.ENSP00000370555

Structurei

Secondary structure

1501
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO15488
SMRiO15488
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1950 Eukaryota
COG5597 LUCA
GeneTreeiENSGT00390000004721
HOGENOMiHOG000008282
HOVERGENiHBG000681
InParanoidiO15488
KOiK00750
OMAiTKPWNYK
OrthoDBiEOG091G09E1
PhylomeDBiO15488
TreeFamiTF312839

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR002495 Glyco_trans_8
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF01501 Glyco_transf_8, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit

Sequences (6+)i

Sequence statusi: Complete.

This entry describes 6 isoformsi produced by alternative splicing. AlignAdd to basket
Note: Additional isoforms seem to exist.

This entry has 6 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform Alpha (identifier: O15488-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSETEFHHGA QAGLELLRSS NSPTSASQSA GMTVTDQAFV TLATNDIYCQ
60 70 80 90 100
GALVLGQSLR RHRLTRKLVV LITPQVSSLL RVILSKVFDE VIEVNLIDSA
110 120 130 140 150
DYIHLAFLKR PELGLTLTKL HCWTLTHYSK CVFLDADTLV LSNVDELFDR
160 170 180 190 200
GEFSAAPDPG WPDCFNSGVF VFQPSLHTHK LLLQHAMEHG SFDGADQGLL
210 220 230 240 250
NSFFRNWSTT DIHKHLPFIY NLSSNTMYTY SPAFKQFGSS AKVVHFLGSM
260 270 280 290 300
KPWNYKYNPQ SGSVLEQGSA SSSQHQAAFL HLWWTVYQNN VLPLYKSVQA
310 320 330 340 350
GEARASPGHT LCHSDVGGPC ADSASGVGEP CENSTPSAGV PCANSPLGSN
360 370 380 390 400
QPAQGLPEPT QIVDETLSLP EGRRSEDMIA CPETETPAVI TCDPLSQPSP
410 420 430 440 450
QPADFTETET ILQPANKVES VSSEETFEPS QELPAEALRD PSLQDALEVD
460 470 480 490 500
LAVSVSQISI EEKVKELSPE EERRKWEEGR IDYMGKDAFA RIQEKLDRFL

Q
Length:501
Mass (Da):55,184
Last modified:March 20, 2007 - v2
Checksum:i8488A09D6E564693
GO
Isoform Beta (identifier: O15488-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3-33: Missing.

Show »
Length:470
Mass (Da):51,999
Checksum:iB846651872D5D26E
GO
Isoform Gamma (identifier: O15488-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     3-42: Missing.

Show »
Length:461
Mass (Da):51,024
Checksum:iA04519016F2221BB
GO
Isoform Delta (identifier: O15488-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     378-448: Missing.

Show »
Length:430
Mass (Da):47,530
Checksum:i940F41982ACB1650
GO
Isoform Epsilon (identifier: O15488-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     407-501: Missing.

Show »
Length:406
Mass (Da):44,295
Checksum:i6370F23C7DC32423
GO
Isoform Zeta (identifier: O15488-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     413-448: Missing.

Show »
Length:465
Mass (Da):51,260
Checksum:iAB2B130A1FD5EA73
GO

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E5RIC9E5RIC9_HUMAN
Glycogenin-2
GYG2
137Annotation score:
J3QSZ3J3QSZ3_HUMAN
Glycogenin-2
GYG2
244Annotation score:
A0A1W2PQ75A0A1W2PQ75_HUMAN
Glycogenin-2
GYG2
430Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti413Missing in AAB84378 (PubMed:9346895).Curated1
Sequence conflicti462 – 464EKV → AGI in AAB84376 (PubMed:9346895).Curated3

Mass spectrometryi

Molecular mass is 55211.89 Da from positions 1 - 501. Determined by MALDI. 1 Publication

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0531107H → Y. Corresponds to variant dbSNP:rs11797037EnsemblClinVar.1
Natural variantiVAR_064717194G → R Found in a renal cell carcinoma case; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs200824650Ensembl.1
Natural variantiVAR_010401270A → V. Corresponds to variant dbSNP:rs2306734EnsemblClinVar.1
Natural variantiVAR_024457313H → R1 PublicationCorresponds to variant dbSNP:rs2306735EnsemblClinVar.1
Natural variantiVAR_031224373R → C. Corresponds to variant dbSNP:rs17330993EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0017713 – 42Missing in isoform Gamma. CuratedAdd BLAST40
Alternative sequenceiVSP_0017703 – 33Missing in isoform Beta. 1 PublicationAdd BLAST31
Alternative sequenceiVSP_001772378 – 448Missing in isoform Delta. CuratedAdd BLAST71
Alternative sequenceiVSP_001773407 – 501Missing in isoform Epsilon. CuratedAdd BLAST95
Alternative sequenceiVSP_001774413 – 448Missing in isoform Zeta. CuratedAdd BLAST36

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U94362 mRNA Translation: AAB84377.1
U94363 mRNA Translation: AAB84378.1
U94364 mRNA Translation: AAB84379.1
U94357 mRNA Translation: AAB84373.1
U94358 mRNA Translation: AAB84374.1
U94360 mRNA Translation: AAB84375.1
U94361 mRNA Translation: AAB84376.1
AF179624
, AF179615, AF179616, AF179617, AF179618, AF179619, AF179620, AF179621, AF179622, AF179623 Genomic DNA Translation: AAF61855.1
AC138085 Genomic DNA No translation available.
BC023152 mRNA Translation: AAH23152.1
CCDSiCCDS14121.1 [O15488-1]
CCDS48074.1 [O15488-2]
CCDS55365.1 [O15488-4]
RefSeqiNP_001073324.1, NM_001079855.1 [O15488-2]
NP_001171631.1, NM_001184702.1
NP_001171632.1, NM_001184703.1 [O15488-4]
NP_001171633.1, NM_001184704.1
NP_003909.2, NM_003918.2 [O15488-1]
XP_011543902.1, XM_011545600.2 [O15488-2]
XP_016885416.1, XM_017029927.1 [O15488-1]
XP_016885417.1, XM_017029928.1 [O15488-1]
UniGeneiHs.567381
Hs.701629

Genome annotation databases

EnsembliENST00000353656; ENSP00000487294; ENSG00000056998 [O15488-4]
ENST00000381163; ENSP00000370555; ENSG00000056998 [O15488-1]
ENST00000398806; ENSP00000381786; ENSG00000056998 [O15488-2]
GeneIDi8908
KEGGihsa:8908
UCSCiuc004cqs.2 human [O15488-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U94362 mRNA Translation: AAB84377.1
U94363 mRNA Translation: AAB84378.1
U94364 mRNA Translation: AAB84379.1
U94357 mRNA Translation: AAB84373.1
U94358 mRNA Translation: AAB84374.1
U94360 mRNA Translation: AAB84375.1
U94361 mRNA Translation: AAB84376.1
AF179624
, AF179615, AF179616, AF179617, AF179618, AF179619, AF179620, AF179621, AF179622, AF179623 Genomic DNA Translation: AAF61855.1
AC138085 Genomic DNA No translation available.
BC023152 mRNA Translation: AAH23152.1
CCDSiCCDS14121.1 [O15488-1]
CCDS48074.1 [O15488-2]
CCDS55365.1 [O15488-4]
RefSeqiNP_001073324.1, NM_001079855.1 [O15488-2]
NP_001171631.1, NM_001184702.1
NP_001171632.1, NM_001184703.1 [O15488-4]
NP_001171633.1, NM_001184704.1
NP_003909.2, NM_003918.2 [O15488-1]
XP_011543902.1, XM_011545600.2 [O15488-2]
XP_016885416.1, XM_017029927.1 [O15488-1]
XP_016885417.1, XM_017029928.1 [O15488-1]
UniGeneiHs.567381
Hs.701629

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4UEGX-ray1.93A/B35-300[»]
ProteinModelPortaliO15488
SMRiO15488
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114422, 17 interactors
IntActiO15488, 3 interactors
STRINGi9606.ENSP00000370555

Protein family/group databases

CAZyiGT8 Glycosyltransferase Family 8

PTM databases

iPTMnetiO15488
PhosphoSitePlusiO15488

Polymorphism and mutation databases

BioMutaiGYG2

Proteomic databases

MaxQBiO15488
PaxDbiO15488
PeptideAtlasiO15488
PRIDEiO15488
ProteomicsDBi48689
48690 [O15488-2]
48691 [O15488-3]
48692 [O15488-4]
48693 [O15488-5]
48694 [O15488-6]

Protocols and materials databases

DNASUi8908
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000353656; ENSP00000487294; ENSG00000056998 [O15488-4]
ENST00000381163; ENSP00000370555; ENSG00000056998 [O15488-1]
ENST00000398806; ENSP00000381786; ENSG00000056998 [O15488-2]
GeneIDi8908
KEGGihsa:8908
UCSCiuc004cqs.2 human [O15488-1]

Organism-specific databases

CTDi8908
DisGeNETi8908
EuPathDBiHostDB:ENSG00000056998.18
GeneCardsiGYG2
H-InvDBiHIX0016632
HIX0025849
HGNCiHGNC:4700 GYG2
HPAiHPA005495
HPA064686
MIMi300198 gene
neXtProtiNX_O15488
OpenTargetsiENSG00000056998
PharmGKBiPA29078
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1950 Eukaryota
COG5597 LUCA
GeneTreeiENSGT00390000004721
HOGENOMiHOG000008282
HOVERGENiHBG000681
InParanoidiO15488
KOiK00750
OMAiTKPWNYK
OrthoDBiEOG091G09E1
PhylomeDBiO15488
TreeFamiTF312839

Enzyme and pathway databases

UniPathwayi
UPA00164

BioCyciMetaCyc:HS00703-MONOMER
ReactomeiR-HSA-3322077 Glycogen synthesis
R-HSA-3785653 Myoclonic epilepsy of Lafora
R-HSA-3858516 Glycogen storage disease type 0 (liver GYS2)
R-HSA-3878781 Glycogen storage disease type IV (GBE1)
R-HSA-70221 Glycogen breakdown (glycogenolysis)

Miscellaneous databases

ChiTaRSiGYG2 human
GenomeRNAii8908
PROiPR:O15488
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000056998 Expressed in 206 organ(s), highest expression level in adipose tissue
CleanExiHS_GYG2
ExpressionAtlasiO15488 baseline and differential
GenevisibleiO15488 HS

Family and domain databases

Gene3Di3.90.550.10, 1 hit
InterProiView protein in InterPro
IPR002495 Glyco_trans_8
IPR029044 Nucleotide-diphossugar_trans
PfamiView protein in Pfam
PF01501 Glyco_transf_8, 1 hit
SUPFAMiSSF53448 SSF53448, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiGLYG2_HUMAN
AccessioniPrimary (citable) accession number: O15488
Secondary accession number(s): B7WNN6
, O15485, O15486, O15487, O15489, O15490
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: March 20, 2007
Last modified: November 7, 2018
This is version 175 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  7. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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