Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	26229
Gene name	Beta-1,3-glucuronyltransferase 3
Gene symbol	B3GAT3
Synonyms (NCBI Gene)	GLCATIJDSCDglcUAT-I
Chromosome	11
Chromosome location	11q12.3
Summary	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

7 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

119 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

34 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

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

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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Larsen-like syndrome, B3GAT3 type	Likely pathogenic; Pathogenic	rs1554968726, rs139759238, rs755601885, rs750685646, rs895774521, rs1943043756, rs2496251561, rs1943126956, rs2134426262, rs754512227, rs2496258057, rs2496251511, rs1943052192, rs1046674759, rs1447702013 View all (5 more)	RCV001390252 RCV002568864 RCV001844323 RCV001946744 RCV002022647 View all (16 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS	Pathogenic; Likely pathogenic	rs372487178, rs387906937	RCV000211124 RCV000211049	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS	Pathogenic; Likely pathogenic	rs879255269, rs377340567, rs766019547	RCV000211050 RCV001260983 RCV001260982	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (12)
B3GAT3-related disorder	Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOFACIAL ABNORMALITIES	—	CTD, Disgenet CTD, Disgenet	16759393	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARSEN SYNDROME, DOMINANT TYPE	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LARSEN-LIKE SYNDROME B3GAT3 TYPE	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (70)
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	27871226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnodactyly	Arachnodactyly	Pubtator	26086840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	BEFREE	21763480		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	26086840, 27871226	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35123420	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37908350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular abnormalities	Pubtator	28771243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	26086840	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
B4GALT7	4	["Bone fragility with contractures, arterial rupture, and deafness","Craniofacial abnormalities","Larsen syndrome","Osteoporosis-pseudoglioma syndrome"]	3	["Glycosaminoglycan biosynthesis - chondroitin sulfate \/ dermatan sulfate","Glycosaminoglycan biosynthesis - heparan sulfate \/ heparin","A tetrasaccharide linker sequence is required for GAG synthesis"]	5	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","CTD (Craniofacial abnormalities)","Disgenet (Craniofacial abnormalities)","CTD (Larsen syndrome)","CTD (Osteoporosis-pseudoglioma syndrome)"]
XYLT2	3	["Bone fragility with contractures, arterial rupture, and deafness","Larsen syndrome","Osteoporosis-pseudoglioma syndrome"]	3	["Glycosaminoglycan biosynthesis - chondroitin sulfate \/ dermatan sulfate","Glycosaminoglycan biosynthesis - heparan sulfate \/ heparin","A tetrasaccharide linker sequence is required for GAG synthesis"]	3	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","CTD (Larsen syndrome)","CTD (Osteoporosis-pseudoglioma syndrome)"]
P4HA1	3	["Bone fragility with contractures, arterial rupture, and deafness","Larsen syndrome","Osteoporosis-pseudoglioma syndrome"]	0	[]	3	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","CTD (Larsen syndrome)","CTD (Osteoporosis-pseudoglioma syndrome)"]
B3GALT6	3	["Bone fragility with contractures, arterial rupture, and deafness","Larsen syndrome","Osteoporosis-pseudoglioma syndrome"]	3	["Glycosaminoglycan biosynthesis - chondroitin sulfate \/ dermatan sulfate","Glycosaminoglycan biosynthesis - heparan sulfate \/ heparin","A tetrasaccharide linker sequence is required for GAG synthesis"]	3	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","CTD (Larsen syndrome)","CTD (Osteoporosis-pseudoglioma syndrome)"]
XYLT1	3	["Bone fragility with contractures, arterial rupture, and deafness","Larsen syndrome","Osteoporosis-pseudoglioma syndrome"]	3	["Glycosaminoglycan biosynthesis - chondroitin sulfate \/ dermatan sulfate","Glycosaminoglycan biosynthesis - heparan sulfate \/ heparin","A tetrasaccharide linker sequence is required for GAG synthesis"]	3	["CTD (Bone fragility with contractures, arterial rupture, and deafness)","CTD (Larsen syndrome)","CTD (Osteoporosis-pseudoglioma syndrome)"]

B3GAT3 (beta-1,3-glucuronyltransferase 3)

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