LARGE2 (LARGE xylosyl- and glucuronyltransferase 2)

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 19587235, 28514442
GO:0005794 Component Golgi apparatus IBA 21873635
GO:0006493 Process Protein O-linked glycosylation TAS
GO:0015020 Function Glucuronosyltransferase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
609709 16522 ENSG00000165905
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Mannose type O-glycan biosynthesis
Metabolic pathways 		  O-linked glycosylation
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Myocardial infarction Myocardial Infarction 21211798 ClinVar
Show/Hide Text Mining Associations (3)
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 36575396
Carcinoma Renal Cell Associate 26220087
Prostatic Neoplasms Inhibit 23223448