GYG2 (glycogenin 2)

Gene

• Entrez ID: 8908
• Gene name: Glycogenin 2
• Gene symbol: GYG2
• Synonyms (NCBI Gene): GN-2, GN2
• Chromosome: X
• Chromosome location: Xp22.33
• 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 glyc

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030406	hsa-miR-24-3p	Microarray	19748357
MIRT709568	hsa-miR-4267	HITS-CLIP	19536157
MIRT709567	hsa-miR-4772-3p	HITS-CLIP	19536157
MIRT709566	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT709565	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT709564	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT709563	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT709562	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT709561	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT709568	hsa-miR-4267	HITS-CLIP	19536157
MIRT709567	hsa-miR-4772-3p	HITS-CLIP	19536157
MIRT709566	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT709565	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT709564	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT709563	hsa-miR-2355-5p	HITS-CLIP	19536157
MIRT709562	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT709561	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT1038872	hsa-miR-125a-5p	CLIP-seq
MIRT1038873	hsa-miR-125b	CLIP-seq
MIRT1038874	hsa-miR-4319	CLIP-seq
MIRT1038875	hsa-miR-4446-5p	CLIP-seq
MIRT1038876	hsa-miR-4732-3p	CLIP-seq
MIRT1038877	hsa-miR-4755-5p	CLIP-seq
MIRT1038878	hsa-miR-670	CLIP-seq
MIRT2007980	hsa-let-7a	CLIP-seq
MIRT2007981	hsa-let-7b	CLIP-seq
MIRT2007982	hsa-let-7c	CLIP-seq
MIRT2007983	hsa-let-7d	CLIP-seq
MIRT2007984	hsa-let-7e	CLIP-seq
MIRT2007985	hsa-let-7f	CLIP-seq
MIRT2007986	hsa-let-7g	CLIP-seq
MIRT2007987	hsa-let-7i	CLIP-seq
MIRT2007988	hsa-miR-146a	CLIP-seq
MIRT2007989	hsa-miR-146b-5p	CLIP-seq
MIRT2007990	hsa-miR-196a	CLIP-seq
MIRT2007991	hsa-miR-196b	CLIP-seq
MIRT2007992	hsa-miR-202	CLIP-seq
MIRT2007993	hsa-miR-2277-3p	CLIP-seq
MIRT2007994	hsa-miR-3150b-3p	CLIP-seq
MIRT2007995	hsa-miR-3174	CLIP-seq
MIRT2007996	hsa-miR-3615	CLIP-seq
MIRT2007997	hsa-miR-3660	CLIP-seq
MIRT2007998	hsa-miR-4458	CLIP-seq
MIRT2007999	hsa-miR-4500	CLIP-seq
MIRT2008000	hsa-miR-4526	CLIP-seq
MIRT2008001	hsa-miR-4639-3p	CLIP-seq
MIRT1038876	hsa-miR-4732-3p	CLIP-seq
MIRT2008002	hsa-miR-4784	CLIP-seq
MIRT2008003	hsa-miR-663b	CLIP-seq
MIRT2008004	hsa-miR-921	CLIP-seq
MIRT2008005	hsa-miR-98	CLIP-seq
MIRT2240685	hsa-miR-335	CLIP-seq
MIRT2240686	hsa-miR-4786-5p	CLIP-seq
MIRT2544185	hsa-miR-3185	CLIP-seq
MIRT2544185	hsa-miR-3185	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	16189514, 33961781, 35271311
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005978	Process	Glycogen biosynthetic process	IDA	9857012
GO:0005978	Process	Glycogen biosynthetic process	IEA
GO:0005978	Process	Glycogen biosynthetic process	TAS
GO:0008466	Function	Glycogenin glucosyltransferase activity	EXP	9346895
GO:0008466	Function	Glycogenin glucosyltransferase activity	IDA	9857012
GO:0008466	Function	Glycogenin glucosyltransferase activity	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IBA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 300198
• HGNC: 4700
• e!Ensembl: ENSG00000056998

Protein

• UniProt ID: O15488
• Protein name: Glycogenin-2 (GN-2) (GN2) (EC 2.4.1.186)
• Protein function: Glycogenin participates in the glycogen biosynthetic process along with glycogen synthase and glycogen branching enzyme. It catalyzes the formation of a short alpha (1,4)-glucosyl chain covalently attached via a glucose 1-O-tyrosyl linkage to in
• PDB: 4UEG
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01501	Glyco_transf_8	39 → 257	Glycosyl transferase family 8	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in liver (at protein level) (PubMed:9857012). Expressed preferentially in liver, heart, and pancreas (PubMed:9346895). {ECO:0000269|PubMed:9346895, ECO:0000269|PubMed:9857012}.
• Sequence:

  MSETEFHHGAQAGLELLRSSNSPTSASQSAGMTVTDQAFVTLATNDIYCQGALVLGQSLR
  RHRLTRKLVVLITPQVSSLLRVILSKVFDEVIEVNLIDSADYIHLAFLKRPELGLTLTKL
  HCWTLTHYSKCVFLDADTLVLSNVDELFDRGEFSAAPDPGWPDCFNSGVFVFQPSLHTHK
  LLLQHAMEHGSFDGADQGLLNSFFRNWSTTDIHKHLPFIYNLSSNTMYTYSPAFKQFGSS
  AKVVHFLGSMKPWNYKYNPQSGSVLEQGSASSSQHQAAFLHLWWTVYQNNVLPLYKSVQA
  GEARASPGHTLCHSDVGGPCADSASGVGEPCENSTPSAGVPCANSPLGSNQPAQGLPEPT
  QIVDETLSLPEGRRSEDMIACPETETPAVITCDPLSQPSPQPADFTETETILQPANKVES
  VSSEETFEPSQELPAEALRDPSLQDALEVDLAVSVSQISIEEKVKELSPEEERRKWEEGR
  IDYMGKDAFARIQEKLDRFLQ

• Sequence length: 501

Pathways

KEGG:

Starch and sucrose metabolism
Metabolic pathways

Reactome:

Glycogen synthesis
Glycogen storage disease type 0 (liver GYS2)
Glycogen storage disease type IV (GBE1)
Glycogen breakdown (glycogenolysis)

Associated diseases

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormality of neuronal migration	Uncertain significance	rs863223369	RCV000201375
Atypical Leigh syndrome	Uncertain significance	rs951388045	RCV002227788
Cervical cancer	Uncertain significance	rs1425666386	RCV005932588
GYG2-related disorder	Likely benign; Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs765257386, rs769937678, rs141116662, rs766092271, rs148872483, rs137923496, rs369590367, rs143109649, rs577216902, rs749214104	RCV003941124 RCV003943726 RCV003906512 RCV003916491 RCV003922812 RCV003902557 RCV003905575 RCV003938188 RCV003950515 RCV003943313
Malignant tumor of esophagus	Benign	rs200824650	RCV005927875
Ovarian serous cystadenocarcinoma	Benign	rs200824650	RCV005927876
Uterine carcinosarcoma	Benign	rs6641656	RCV005925090

Associations from Text Mining
Disease Name	Relationship Type	References
Ganglioneuroma	Associate	31698611