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

Gene Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	145173
Gene name Gene Name - the full gene name approved by the HGNC.	Beta 3-glucosyltransferase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	B3GLCT
Synonyms (NCBI Gene) Gene synonyms aliases	B3GALTL, B3GTL, B3Glc-T, Gal-T, beta3Glc-T
Chromosome Chromosome number	13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	13q12.3
Summary Summary of gene provided in NCBI Entrez Gene.	The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a

Show/Hide all(17)

SNP ID	Visualize variation	Clinical significance	Consequence
rs9542305	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs80338850	G>A	Pathogenic	Intron variant
rs80338851	G>A	Pathogenic	Splice donor variant
rs80338852	T>A,C	Pathogenic	Intron variant, coding sequence variant, stop gained, synonymous variant, non coding transcript variant
rs114425388	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, non coding transcript variant, synonymous variant, coding sequence variant
rs114941150	A>G	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, coding sequence variant
rs147485868	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs183322816	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs199794968	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs200460848	G>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs267606675	G>A	Pathogenic	Genic downstream transcript variant, missense variant, intron variant, downstream transcript variant, coding sequence variant
rs371904655	G>A,C	Pathogenic	Splice acceptor variant, intron variant
rs377657178	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs767361165	G>A	Pathogenic	Splice donor variant
rs772504695	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs794727108	TCTCCAGGCTCCAGCA>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1593258510	->T	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

Show/Hide all(23)

GO ID	Ontology	Definition	Evidence
GO:0001501	Process	Skeletal system development	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006004	Process	Fucose metabolic process	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0007420	Process	Brain development	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	IBA
GO:0009306	Process	Protein secretion	IEA
GO:0010467	Process	Gene expression	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	TAS
GO:0036066	Process	Protein O-linked glycosylation via fucose	IEA
GO:0036066	Process	Protein O-linked glycosylation via fucose	TAS
GO:0043010	Process	Camera-type eye development	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0060021	Process	Roof of mouth development	IEA
GO:0060173	Process	Limb development	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:1904888	Process	Cranial skeletal system development	IEA

MIM	HGNC	e!Ensembl
610308	20207	ENSG00000187676

Protein

UniProt ID

Q6Y288

Protein name

Beta-1,3-glucosyltransferase (Beta3Glc-T) (EC 2.4.1.-) (Beta 3-glucosyltransferase) (Beta-3-glycosyltransferase-like)

Protein function

O-glucosyltransferase that transfers glucose toward fucose with a beta-1,3 linkage. Specifically glucosylates O-linked fucosylglycan on TSP type-1 domains of proteins, thereby contributing to elongation of O-fucosylglycan. {ECO:0000269|PubMed:16

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02434	Fringe	99 → 225	Fringe-like	Family
PF02434	Fringe	262 → 480	Fringe-like	Family

Tissue specificity

TISSUE SPECIFICITY: Widely expressed, with highest levels in testis and uterus. {ECO:0000269|PubMed:12943678, ECO:0000269|PubMed:16899492}.

Sequence

MRPPACWWLLAPPALLALLTCSLAFGLASEDTKKEVKQSQDLEKSGISRKNDIDLKGIVF
VIQSQSNSFHAKRAEQLKKSILKQAADLTQELPSVLLLHQLAKQEGAWTILPLLPHFSVT
YSRNSSWIFFCEEETRIQIPKLLETLRRYDPSKEWFLGKALHDEEATIIHHYAFSENPTV
FKYPDFAAGWALSIPLVNKLTKRLKSESLKSDFTIDLKHEIALYIWDKGGGPPLTPVPEF
CTNDVDFYCATTFHSFLPLCRKPVKKKDIFVAVKTCKKFHGDRIPIVKQTWESQASLIEY
YSDYTENSIPTVDLGIPNTDRGHCGKTFAILERFLNRSQDKTAWLVIVDDDTLISISRLQ
HLLSCYDSGEPVFLGERYGYGLGTGGYSYITGGGGMVFSREAVRRLLASKCRCYSNDAPD
DMVLGMCFSGLGIPVTHSPLFHQARPVDYPKDYLSHQVPISFHKHWNIDPVKVYFTWLAP
SDEDKARQETQKGFREEL

Sequence length

498

Interactions

View interactions

	KEGG		Reactome
	Other types of O-glycan biosynthesis		Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Peters Plus Syndrome	peters plus syndrome	rs80338851, rs80338850, rs1593258510, rs267606675, rs767361165	N/A

Show/Hide Unknown Diseases (5)

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.
Bipolar Disorder	Bipolar I disorder	N/A	N/A	GWAS
Breast Cancer	BRCA2 mutation in breast cancer	N/A	N/A	GWAS
Colorectal Cancer	Colorectal cancer	N/A	N/A	GWAS
Hypertension	Hypertension, High blood pressure / hypertension, Essential hypertension (time to event), Hypertension (confirmatory factor analysis Factor 12), Hypertension (PheCode 401), Essential hypertension (PheCode 401.1)	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anterior segment mesenchymal dysgenesis	Associate	31795264
Congenital Disorders of Glycosylation	Associate	31795264
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	34085516
Depressive Disorder	Associate	34021117
Distal myopathy Nonaka type	Associate	31795264
Genetic Diseases Inborn	Associate	24664804, 25544610
Krause Kivlin syndrome	Associate	16909395, 18199743, 18798333, 23213277, 23889335, 25544610, 31795264, 32204707, 32253880, 34058199, 34085516
Krause Kivlin syndrome	Inhibit	24664804
Macular Degeneration	Associate	23455636, 30389371, 33618707, 34061866, 34695439
Neurologic Manifestations	Associate	32204707
Peters anomaly	Associate	23213277, 32253880
Respiratory System Abnormalities	Associate	32204707
Sveinsson Chorioretinal Atrophy	Associate	32204707

B3GLCT (beta 3-glucosyltransferase)