Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Pathways
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	120071
Gene name Gene Name - the full gene name approved by the HGNC.	LARGE xylosyl- and glucuronyltransferase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	LARGE2
Synonyms (NCBI Gene) Gene synonyms aliases	GYLTL1B, PP5656
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11p11.2

Show/Hide all(25)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0003824	Function	Catalytic activity	IEA
GO:0005515	Function	Protein binding	IPI	19587235, 28514442
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006493	Process	Protein O-linked glycosylation	TAS
GO:0015020	Function	Glucuronosyltransferase activity	IBA
GO:0015020	Function	Glucuronosyltransferase activity	ISS
GO:0015020	Function	Glucuronosyltransferase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0030145	Function	Manganese ion binding	IEA
GO:0030145	Function	Manganese ion binding	TAS	25138275
GO:0035252	Function	UDP-xylosyltransferase activity	IEA
GO:0035252	Function	UDP-xylosyltransferase activity	TAS
GO:0035269	Process	Protein O-linked glycosylation via mannose	IBA
GO:0035269	Process	Protein O-linked glycosylation via mannose	IDA	25138275
GO:0035269	Process	Protein O-linked glycosylation via mannose	IEA
GO:0042285	Function	Xylosyltransferase activity	IBA
GO:0042285	Function	Xylosyltransferase activity	ISS
GO:0046716	Process	Muscle cell cellular homeostasis	ISS
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
609709	16522	ENSG00000165905

Protein

UniProt ID

Q8N3Y3

Protein name

Xylosyl- and glucuronyltransferase LARGE2 (EC 2.4.-.-) (Glycosyltransferase-like 1B) (LARGE xylosyl- and glucuronyltransferase 2) [Includes: Alpha-1,3-xylosyltransferase LARGE2 (EC 2.4.2.-); Beta-1,3-glucuronyltransferase LARGE2 (EC 2.4.1.-)]

Protein function

Bifunctional glycosyltransferase with both alpha-1,3-xylosyltransferase and beta-1,3-glucuronyltransferase activities involved in the maturation of alpha-dystroglycan (DAG1) by glycosylation leading to DAG1 binding to laminin G-like domain-conta

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01501	Glyco_transf_8	101 → 346	Glycosyl transferase family 8	Family
PF13896	Glyco_transf_49	431 → 497		Domain
PF13896	Glyco_transf_49	482 → 701		Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Expressed at high level in placenta, pancreas and kidney compared to LARGE. Not expressed in brain. {ECO:0000269|PubMed:15752776, ECO:0000269|PubMed:15958417}.

Sequence

MLPRGRPRALGAAALLLLLLLLGFLLFGGDLGCERREPGGRAGAPGCFPGPLMPRVPPDG
RLRRAAALDGDPGAGPGDHNRSDCGPQPPPPPKCELLHVAIVCAGHNSSRDVITLVKSML
FYRKNPLHLHLVTDAVARNILETLFHTWMVPAVRVSFYHADQLKPQVSWIPNKHYSGLYG
LMKLVLPSALPAELARVIVLDTDVTFASDISELWALFAHFSDTQAIGLVENQSDWYLGNL
WKNHRPWPALGRGFNTGVILLRLDRLRQAGWEQMWRLTARRELLSLPATSLADQDIFNAV
IKEHPGLVQRLPCVWNVQLSDHTLAERCYSEASDLKVIHWNSPKKLRVKNKHVEFFRNFY
LTFLEYDGNLLRRELFVCPSQPPPGAEQLQQALAQLDEEDPCFEFRQQQLTVHRVHVTFL
PHEPPPPRPHDVTLVAQLSMDRLQMLEALCRHWPGPMSLALYLTDAEAQQFLHFVEASPV
LAARQDVAYHVVYREGPLYPVNQLRNVALAQALTPYVFLSDIDFLPAYSLYDYLRASIEQ
LGLGSRRKAALVVPAFETLRYRFSFPHSKVELLALLDAGTLYTFRYHEWPRGHAPTDYAR
WREAQAPYRVQWAANYEPYVVVPRDCPRYDPRFVGFGWNKVAHIVELDAQEYELLVLPEA
FTIHLPHAPSLDISRFRSSPTYRDCLQALKDEFHQDLSRHHGAAALKYLPALQQPQSPAR
G

Sequence length

721

Interactions

View interactions

	KEGG		Reactome
	Mannose type O-glycan biosynthesis Metabolic pathways		O-linked glycosylation

LARGE2 (LARGE xylosyl- and glucuronyltransferase 2)