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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)
UniPathwayiUPA00164

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

PTM databases

iPTMnetiO15488
PhosphoSitePlusiO15488

Expressioni

Tissue specificityi

Expressed preferentially in liver, heart, and pancreas.

Gene expression databases

BgeeiENSG00000056998
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
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi37 – 43Combined sources7
Turni46 – 48Combined sources3
Helixi49 – 61Combined sources13
Beta strandi66 – 72Combined sources7
Helixi78 – 84Combined sources7
Turni85 – 87Combined sources3
Beta strandi89 – 93Combined sources5
Helixi101 – 109Combined sources9
Helixi111 – 113Combined sources3
Helixi114 – 120Combined sources7
Helixi121 – 124Combined sources4
Beta strandi128 – 134Combined sources7
Beta strandi138 – 140Combined sources3
Helixi145 – 149Combined sources5
Beta strandi152 – 157Combined sources6
Beta strandi159 – 161Combined sources3
Beta strandi164 – 172Combined sources9
Helixi176 – 189Combined sources14
Helixi196 – 203Combined sources8
Turni204 – 209Combined sources6
Helixi212 – 214Combined sources3
Helixi218 – 220Combined sources3
Turni225 – 227Combined sources3
Helixi232 – 237Combined sources6
Helixi238 – 240Combined sources3
Beta strandi242 – 245Combined sources4
Helixi252 – 254Combined sources3
Helixi277 – 290Combined sources14
Helixi292 – 298Combined sources7

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...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG1950 Eukaryota
COG5597 LUCA
GeneTreeiENSGT00390000004721
HOGENOMiHOG000008282
HOVERGENiHBG000681
InParanoidiO15488
KOiK00750
OMAiVITCDPL
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.
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

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

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: May 23, 2018
This is version 172 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

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