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(6)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006004	Process	Fucose metabolic process	IEA
GO:0008375	Function	Acetylglucosaminyltransferase activity	IBA	21873635
GO:0016021	Component	Integral component of membrane	IEA
GO:0016757	Function	Transferase activity, transferring glycosyl groups	TAS
GO:0036066	Process	Protein O-linked fucosylation	TAS

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 (25)

Disease term	Disease name	dbSNP ID	References
Causal
Agenesis of corpus callosum	Agenesis of corpus callosum	rs754914260, rs1057519053, rs1057519056, rs1057519054, rs1057519055, rs1057519057, rs1384496494, rs1599017933
Anterior segment dysgenesis	Irido-corneo-trabecular dysgenesis (disorder)	rs121907917, rs72549387, rs121909248, rs104893861, rs104893862, rs80358194, rs2113111009, rs104893957, rs104893958, rs104893954, rs587778873, rs587778874, rs878853070, rs752281590, rs369858688 View all (8 more)
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074 View all (25 more)
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852 View all (22 more)
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Congenital hypothyroidism	Congenital Hypothyroidism	rs121909180, rs121912646, rs121912648, rs1587178555, rs530719719, rs189261858, rs567500345, rs560702757, rs374620255, rs774517670
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291 View all (32 more)
Glaucoma	Glaucoma	rs121918355, rs1566660365, rs1566635134, rs121918356, rs1566634475, rs28936700, rs55771538, rs28936701, rs104893622, rs55989760, rs72549387, rs104893628, rs2125316417, rs104893629, rs74315328 View all (29 more)
Hearing loss	Conductive hearing loss	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359 View all (184 more)
Hydrocephalus	Hydrocephalus	rs387907320, rs369384363, rs387907321, rs372127610, rs770273135, rs797045095, rs797045707, rs769795916, rs781251438, rs922703465, rs376078512, rs1567043467, rs1587149916, rs1586841546
Hypoplastic left heart syndrome	Hypoplastic Left Heart Syndrome	rs1554284604, rs1843006535
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557
Age-related macular degeneration	Age related macular degeneration	rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152 View all (20 more)	23455636, 26691988
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315 View all (1024 more)
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019 View all (280 more)
Myopia	Myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Optic atrophy	Optic Atrophy	rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299 View all (37 more)
Patent ductus arteriosus	Patent ductus arteriosus	rs80338911, rs879253870, rs879253871, rs879255278, rs879255279, rs879253872
Peters plus syndrome	Peters plus syndrome	rs80338851, rs80338850, rs1593258510, rs267606675, rs767361165
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Syndactyly	Syndactyly	rs878854345, rs104893635, rs28931600, rs587777050, rs587777051, rs606231304
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Show/Hide Unknown Diseases (8)

Disease term	Disease name	Evidence	References	Source
Unknown
Mental depression	Major Depressive Disorder		29662059	ClinVar
Ptosis	Blepharoptosis, Ptosis			ClinVar
Renal hypoplasia	Congenital hypoplasia of kidney			ClinVar
Hypertension	Hypertension			GWAS
Colorectal Cancer	Colorectal Cancer	In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1.		GWAS, CBGDA
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Bipolar Disorder	Bipolar Disorder			GWAS
Insomnia	Insomnia			GWAS

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text Mining
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)