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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	26229
Gene name Gene Name - the full gene name approved by the HGNC.	Beta-1,3-glucuronyltransferase 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	B3GAT3
Synonyms (NCBI Gene) Gene synonyms aliases	GLCATI, JDSCD, glcUAT-I
Chromosome Chromosome number	11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	11q12.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the

Show/Hide all(7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs372487178	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs377340567	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs387906937	C>G,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs535206047	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs753781915	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs879255269	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1085307917	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant

Show/Hide all(119)

miRTarBase ID	miRNA	Experiments
MIRT813146	hsa-let-7a	CLIP-seq
MIRT813147	hsa-let-7b	CLIP-seq
MIRT813148	hsa-let-7c	CLIP-seq
MIRT813149	hsa-let-7d	CLIP-seq
MIRT813150	hsa-let-7e	CLIP-seq
MIRT813151	hsa-let-7f	CLIP-seq
MIRT813152	hsa-let-7g	CLIP-seq
MIRT813153	hsa-let-7i	CLIP-seq
MIRT813154	hsa-miR-1299	CLIP-seq
MIRT813155	hsa-miR-3179	CLIP-seq
MIRT813156	hsa-miR-3202	CLIP-seq
MIRT813157	hsa-miR-3689d	CLIP-seq
MIRT813158	hsa-miR-4458	CLIP-seq
MIRT813159	hsa-miR-4476	CLIP-seq
MIRT813160	hsa-miR-4500	CLIP-seq
MIRT813161	hsa-miR-4778-5p	CLIP-seq
MIRT813162	hsa-miR-4782-5p	CLIP-seq
MIRT813163	hsa-miR-516b	CLIP-seq
MIRT813164	hsa-miR-98	CLIP-seq
MIRT1940379	hsa-miR-2355-5p	CLIP-seq
MIRT1940380	hsa-miR-4446-3p	CLIP-seq
MIRT1940381	hsa-miR-4457	CLIP-seq
MIRT1940382	hsa-miR-4646-3p	CLIP-seq
MIRT1940383	hsa-miR-4731-3p	CLIP-seq
MIRT1940384	hsa-miR-4801	CLIP-seq
MIRT2179294	hsa-miR-149	CLIP-seq
MIRT2179295	hsa-miR-3064-5p	CLIP-seq
MIRT2179296	hsa-miR-4794	CLIP-seq
MIRT2482865	hsa-miR-1227	CLIP-seq
MIRT2482866	hsa-miR-1254	CLIP-seq
MIRT2482867	hsa-miR-1286	CLIP-seq
MIRT2482868	hsa-miR-146b-3p	CLIP-seq
MIRT2179294	hsa-miR-149	CLIP-seq
MIRT2482869	hsa-miR-15a	CLIP-seq
MIRT2482870	hsa-miR-15b	CLIP-seq
MIRT2482871	hsa-miR-16	CLIP-seq
MIRT2482872	hsa-miR-195	CLIP-seq
MIRT2482873	hsa-miR-214	CLIP-seq
MIRT1940379	hsa-miR-2355-5p	CLIP-seq
MIRT2482874	hsa-miR-2467-3p	CLIP-seq
MIRT2482875	hsa-miR-2861	CLIP-seq
MIRT2482876	hsa-miR-3064-3p	CLIP-seq
MIRT2179295	hsa-miR-3064-5p	CLIP-seq
MIRT2482877	hsa-miR-3116	CLIP-seq
MIRT2482878	hsa-miR-3173-5p	CLIP-seq
MIRT2482879	hsa-miR-3184	CLIP-seq
MIRT2482880	hsa-miR-34a	CLIP-seq
MIRT2482881	hsa-miR-34c-5p	CLIP-seq
MIRT2482882	hsa-miR-3619-3p	CLIP-seq
MIRT2482883	hsa-miR-3619-5p	CLIP-seq
MIRT2482884	hsa-miR-423-5p	CLIP-seq
MIRT2482885	hsa-miR-424	CLIP-seq
MIRT2482886	hsa-miR-4254	CLIP-seq
MIRT2482887	hsa-miR-4265	CLIP-seq
MIRT2482888	hsa-miR-4292	CLIP-seq
MIRT2482889	hsa-miR-4296	CLIP-seq
MIRT2482890	hsa-miR-4322	CLIP-seq
MIRT2482891	hsa-miR-4417	CLIP-seq
MIRT2482892	hsa-miR-4436a	CLIP-seq
MIRT1940380	hsa-miR-4446-3p	CLIP-seq
MIRT1940381	hsa-miR-4457	CLIP-seq
MIRT2482893	hsa-miR-449a	CLIP-seq
MIRT2482894	hsa-miR-449b	CLIP-seq
MIRT1940382	hsa-miR-4646-3p	CLIP-seq
MIRT2482895	hsa-miR-4688	CLIP-seq
MIRT2482896	hsa-miR-4728-5p	CLIP-seq
MIRT1940383	hsa-miR-4731-3p	CLIP-seq
MIRT2179296	hsa-miR-4794	CLIP-seq
MIRT1940384	hsa-miR-4801	CLIP-seq
MIRT2482897	hsa-miR-486-3p	CLIP-seq
MIRT2482898	hsa-miR-497	CLIP-seq
MIRT2482899	hsa-miR-591	CLIP-seq
MIRT2482900	hsa-miR-761	CLIP-seq
MIRT2482901	hsa-miR-874	CLIP-seq
MIRT2482865	hsa-miR-1227	CLIP-seq
MIRT2482866	hsa-miR-1254	CLIP-seq
MIRT2482867	hsa-miR-1286	CLIP-seq
MIRT2482868	hsa-miR-146b-3p	CLIP-seq
MIRT2179294	hsa-miR-149	CLIP-seq
MIRT2482869	hsa-miR-15a	CLIP-seq
MIRT2482870	hsa-miR-15b	CLIP-seq
MIRT2482871	hsa-miR-16	CLIP-seq
MIRT2482872	hsa-miR-195	CLIP-seq
MIRT2482873	hsa-miR-214	CLIP-seq
MIRT1940379	hsa-miR-2355-5p	CLIP-seq
MIRT2482874	hsa-miR-2467-3p	CLIP-seq
MIRT2482875	hsa-miR-2861	CLIP-seq
MIRT2482876	hsa-miR-3064-3p	CLIP-seq
MIRT2179295	hsa-miR-3064-5p	CLIP-seq
MIRT2482877	hsa-miR-3116	CLIP-seq
MIRT2482878	hsa-miR-3173-5p	CLIP-seq
MIRT2482879	hsa-miR-3184	CLIP-seq
MIRT2482880	hsa-miR-34a	CLIP-seq
MIRT2482881	hsa-miR-34c-5p	CLIP-seq
MIRT2482882	hsa-miR-3619-3p	CLIP-seq
MIRT2482883	hsa-miR-3619-5p	CLIP-seq
MIRT2482884	hsa-miR-423-5p	CLIP-seq
MIRT2482885	hsa-miR-424	CLIP-seq
MIRT2482886	hsa-miR-4254	CLIP-seq
MIRT2482887	hsa-miR-4265	CLIP-seq
MIRT2482888	hsa-miR-4292	CLIP-seq
MIRT2482889	hsa-miR-4296	CLIP-seq
MIRT2482890	hsa-miR-4322	CLIP-seq
MIRT2482891	hsa-miR-4417	CLIP-seq
MIRT1940380	hsa-miR-4446-3p	CLIP-seq
MIRT1940381	hsa-miR-4457	CLIP-seq
MIRT2482893	hsa-miR-449a	CLIP-seq
MIRT2482894	hsa-miR-449b	CLIP-seq
MIRT1940382	hsa-miR-4646-3p	CLIP-seq
MIRT2482895	hsa-miR-4688	CLIP-seq
MIRT2482896	hsa-miR-4728-5p	CLIP-seq
MIRT1940383	hsa-miR-4731-3p	CLIP-seq
MIRT2179296	hsa-miR-4794	CLIP-seq
MIRT1940384	hsa-miR-4801	CLIP-seq
MIRT2482897	hsa-miR-486-3p	CLIP-seq
MIRT2482898	hsa-miR-497	CLIP-seq
MIRT2482899	hsa-miR-591	CLIP-seq
MIRT2482900	hsa-miR-761	CLIP-seq
MIRT2482901	hsa-miR-874	CLIP-seq

Show/Hide all(34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	24425863, 32707033
GO:0005794	Component	Golgi apparatus	IDA	21763480
GO:0005794	Component	Golgi apparatus	IEA
GO:0005801	Component	Cis-Golgi network	IDA	21763480, 25893793
GO:0005975	Process	Carbohydrate metabolic process	IBA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IDA	24425863
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IEA
GO:0006024	Process	Glycosaminoglycan biosynthetic process	IMP	25893793
GO:0006024	Process	Glycosaminoglycan biosynthetic process	NAS	10842173
GO:0006486	Process	Protein glycosylation	IEA
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IDA	21763480
GO:0015012	Process	Heparan sulfate proteoglycan biosynthetic process	IMP	25893793
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	NAS	10842173
GO:0015020	Function	Glucuronosyltransferase activity	IDA	25893793
GO:0015020	Function	Glucuronosyltransferase activity	IMP	21763480
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	10842173
GO:0016740	Function	Transferase activity	IEA
GO:0043085	Process	Positive regulation of catalytic activity	IDA	24425863
GO:0046872	Function	Metal ion binding	IEA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IBA
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IDA	21763480
GO:0050650	Process	Chondroitin sulfate proteoglycan biosynthetic process	IMP	25893793
GO:0050651	Process	Dermatan sulfate proteoglycan biosynthetic process	IDA	21763480
GO:0050651	Process	Dermatan sulfate proteoglycan biosynthetic process	IMP	25893793
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0072542	Function	Protein phosphatase activator activity	IDA	24425863
GO:0090316	Process	Positive regulation of intracellular protein transport	IMP	24425863

MIM	HGNC	e!Ensembl
606374	923	ENSG00000149541

Protein

UniProt ID

O94766

Protein name

Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 (EC 2.4.1.135) (Beta-1,3-glucuronyltransferase 3) (Glucuronosyltransferase I) (GlcAT-I) (UDP-GlcUA:Gal beta-1,3-Gal-R glucuronyltransferase) (GlcUAT-I)

Protein function

Glycosaminoglycans biosynthesis (PubMed:25893793). Involved in forming the linkage tetrasaccharide present in heparan sulfate and chondroitin sulfate. Transfers a glucuronic acid moiety from the uridine diphosphate-glucuronic acid (UDP-GlcUA) to

PDB

1FGG , 1KWS , 3CU0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03360	Glyco_transf_43	96 → 312	Glycosyltransferase family 43	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous (but weakly expressed in all tissues examined).

Sequence

MKLKLKNVFLAYFLVSIAGLLYALVQLGQPCDCLPPLRAAAEQLRQKDLRISQLQAELRR
PPPAPAQPPEPEALPTIYVVTPTYARLVQKAELVRLSQTLSLVPRLHWLLVEDAEGPTPL
VSGLLAASGLLFTHLVVLTPKAQRLREGEPGWVHPRGVEQRNKALDWLRGRGGAVGGEKD
PPPPGTQGVVYFADDDNTYSRELFEEMRWTRGVSVWPVGLVGGLRFEGPQVQDGRVVGFH
TAWEPSRPFPVDMAGFAVALPLLLDKPNAQFDSTAPRGHLESSLLSHLVDPKDLEPRAAN
CTRVLVWHTRTEKPKMKQEEQLQRQGRGSDPAIEV

Sequence length

335

Interactions

View interactions

	KEGG		Reactome
	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Glycosaminoglycan biosynthesis - heparan sulfate / heparin Metabolic pathways		A tetrasaccharide linker sequence is required for GAG synthesis Defective B3GAT3 causes JDSSDHD

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Larsen-Like Syndrome	larsen-like syndrome, b3gat3 type	rs535206047, rs377340567, rs387906937	N/A
LARSEN SYNDROME	MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS, MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS	rs879255269, rs372487178, rs377340567, rs387906937	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Neurodevelopmental Disorders	complex neurodevelopmental disorder	N/A	N/A	GenCC

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Aortic Valve Stenosis	Associate	27871226
Arachnodactyly	Associate	26086840
Atlanto Axial Fusion	Associate	24668659
Bone Diseases Metabolic	Associate	26086840, 27871226
Carcinoma Hepatocellular	Associate	35123420
Carcinoma Renal Cell	Associate	37908350
Cardiovascular Abnormalities	Associate	28771243
Cerebral Infarction	Associate	26086840
Congenital Abnormalities	Associate	24668659
Craniosynostoses	Associate	28771243
Desbuquois syndrome	Associate	31988067
Developmental Disabilities	Associate	24668659
Diabetic Foot	Associate	26086840
Facial Dysmorphism with Multiple Malformations	Associate	24668659
Fractures Bone	Associate	27871226
Fractures Multiple	Associate	26086840
Glaucoma	Associate	26086840
Glioma	Stimulate	34222480
Growth Disorders	Associate	24668659, 31988067
Hearing Loss	Associate	26086840
Heart Defects Congenital	Associate	36205932
Heart Diseases	Associate	24668659
Heart Septal Defects Ventricular	Associate	26086840
HEM dysplasia	Associate	24668659, 31988067
Hematoma Subdural	Associate	26086840
Hernia Diaphragmatic	Associate	26086840
Hernia Inguinal	Associate	24668659
Hypertelorism	Associate	26086840
Joint Dislocations	Associate	31988067
Joint Instability	Associate	24668659
Lymphedema	Associate	26086840
Melanoma	Associate	11535117
Muscle Hypotonia	Associate	26086840
Myopia	Associate	27871226
Neoplasms	Stimulate	34222480
Osteoporosis	Associate	27871226
Osteoporosis pseudoglioma syndrome	Associate	28771243
Paraphilic Disorders	Associate	26086840
Plagiocephaly and X linked mental retardation	Associate	31988067
Pseudodiastrophic dysplasia	Associate	31988067
Radio ulnar synostosis type 1	Associate	26086840
Shprintzen Golberg craniosynostosis	Associate	28771243
Skin Abnormalities	Associate	24668659
Stomatognathic Diseases	Associate	24668659
Syndrome	Associate	26086840, 28771243

B3GAT3 (beta-1,3-glucuronyltransferase 3)