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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	135152
Gene name	Beta-1,3-glucuronyltransferase 2
Gene symbol	B3GAT2
Synonyms (NCBI Gene)	GLCATS
Chromosome	6
Chromosome location	6q13
Summary	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

Show/Hide all (47)

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
MIRT538994	hsa-miR-4326	PAR-CLIP	22012620
MIRT538995	hsa-miR-4691-5p	PAR-CLIP	22012620
MIRT538993	hsa-miR-6792-3p	PAR-CLIP	22012620
MIRT538992	hsa-miR-6749-3p	PAR-CLIP	22012620
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
MIRT538994	hsa-miR-4326	PAR-CLIP	22012620
MIRT538995	hsa-miR-4691-5p	PAR-CLIP	22012620
MIRT538993	hsa-miR-6792-3p	PAR-CLIP	22012620
MIRT538992	hsa-miR-6749-3p	PAR-CLIP	22012620
MIRT813139	hsa-miR-298	CLIP-seq
MIRT813140	hsa-miR-3123	CLIP-seq
MIRT813141	hsa-miR-3613-5p	CLIP-seq
MIRT813142	hsa-miR-3674	CLIP-seq
MIRT813143	hsa-miR-3925-5p	CLIP-seq
MIRT813144	hsa-miR-4732-5p	CLIP-seq
MIRT813145	hsa-miR-570	CLIP-seq
MIRT2444558	hsa-miR-1245b-3p	CLIP-seq
MIRT2444559	hsa-miR-136	CLIP-seq
MIRT2444560	hsa-miR-2964a-5p	CLIP-seq
MIRT2444561	hsa-miR-4718	CLIP-seq
MIRT2444558	hsa-miR-1245b-3p	CLIP-seq
MIRT2444559	hsa-miR-136	CLIP-seq
MIRT2444560	hsa-miR-2964a-5p	CLIP-seq
MIRT2482860	hsa-miR-3137	CLIP-seq
MIRT2482861	hsa-miR-3140-5p	CLIP-seq
MIRT2482862	hsa-miR-3194-3p	CLIP-seq
MIRT2444561	hsa-miR-4718	CLIP-seq
MIRT2482863	hsa-miR-4724-5p	CLIP-seq
MIRT2482864	hsa-miR-495	CLIP-seq
MIRT2444558	hsa-miR-1245b-3p	CLIP-seq
MIRT2444559	hsa-miR-136	CLIP-seq
MIRT2444560	hsa-miR-2964a-5p	CLIP-seq
MIRT2482860	hsa-miR-3137	CLIP-seq
MIRT2482861	hsa-miR-3140-5p	CLIP-seq
MIRT2482862	hsa-miR-3194-3p	CLIP-seq
MIRT2444561	hsa-miR-4718	CLIP-seq
MIRT2482863	hsa-miR-4724-5p	CLIP-seq
MIRT2482864	hsa-miR-495	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005975	Process	Carbohydrate metabolic process	IBA
GO:0006486	Process	Protein glycosylation	IEA
GO:0015018	Function	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IBA
GO:0015018	Function	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	IEA
GO:0015018	Function	Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity	ISS
GO:0016020	Component	Membrane	IEA
GO:0016051	Process	Carbohydrate biosynthetic process	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IBA

MIM	HGNC	e!Ensembl
607497	922	ENSG00000112309

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

MKSALFTRFFILLPWILIVIIMLDVDTRRPVPPLTPRPYFSPYAVGRGGARLPLRRGGPA
HGTQKRNQSRPQPQPEPQLPTIYAITPTYSRPVQKAELTRLANTFRQVAQLHWILVEDAA
ARSELVSRFLARAGLPSTHLHVPTPRRYKRPGLPRATEQRNAGLAWLRQRHQHQRAQPGV
LFFADDDNTYSLELFQEMRTTRKVSVWPVGLVGGRRYERPLVENGKVVGWYTGWRADRPF
AIDMAGFAVSLQVILSNPKAVFKRRGSQPGMQESDFLKQITTVEELEPKANNCTKVLVWH
TRTEKVNLANEPKYHLDTVKIEV

Sequence length

323

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BARRETT ESOPHAGUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Barrett Esophagus	Barrett esophagus	BEFREE	26545406		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Barrett Esophagus	Barrett esophagus	Pubtator	26545406	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24244442	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	30867848	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23110092	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	32176075	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	28673330	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20950796		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20950796		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous Thromboembolism	Venous thromboembolism	Pubtator	28011674	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

B3GAT2 (beta-1,3-glucuronyltransferase 2)