Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
135152
Gene name Gene Name - the full gene name approved by the HGNC.
Beta-1,3-glucuronyltransferase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
B3GAT2
Synonyms (NCBI Gene) Gene synonyms aliases
GLCATS
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6q13
Summary Summary of gene provided in NCBI Entrez Gene.
The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4G
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT539000 hsa-miR-4310 PAR-CLIP 22012620
MIRT538999 hsa-miR-7157-5p PAR-CLIP 22012620
MIRT538998 hsa-miR-4530 PAR-CLIP 22012620
MIRT538997 hsa-miR-338-3p PAR-CLIP 22012620
MIRT538996 hsa-miR-766-3p PAR-CLIP 22012620
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IBA 21873635
GO:0000139 Component Golgi membrane TAS
GO:0005975 Process Carbohydrate metabolic process IBA 21873635
GO:0006486 Process Protein glycosylation IEA
GO:0015018 Function Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607497 922 ENSG00000112309
Protein
UniProt ID Q9NPZ5
Protein name Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 2 (EC 2.4.1.135) (Beta-1,3-glucuronyltransferase 2) (GlcAT-D) (UDP-glucuronosyltransferase S) (GlcAT-S) (Glucuronosyltransferase S)
Protein function Involved in the biosynthesis of L2/HNK-1 carbohydrate epitope on both glycolipids and glycoproteins.
PDB 2D0J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03360 Glyco_transf_43 101 304 Glycosyltransferase family 43 Family
Tissue specificity TISSUE SPECIFICITY: Expressed in the trachea, retina, spinal cord, hippocampus and other brain regions, and, at lower levels, in testis and ovary.
Sequence
Sequence length 323
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Mannose type O-glycan biosynthesis
Metabolic pathways
  A tetrasaccharide linker sequence is required for GAG synthesis
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)
20950796
Unknown
Disease term Disease name Evidence References Source
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Barrett Esophagus Associate 26545406
Colorectal Neoplasms Associate 24244442
Lung Neoplasms Associate 30867848
Melanoma Associate 23110092
Neoplasms Associate 23110092, 24244442
Polycystic Ovary Syndrome Associate 32176075
Prostatic Neoplasms Associate 28673330
Venous Thromboembolism Associate 28011674