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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	145173
Gene name	Beta 3-glucosyltransferase
Gene symbol	B3GLCT
Synonyms (NCBI Gene)	B3GALTLB3GTLB3Glc-TGal-Tbeta3Glc-T
Chromosome	13
Chromosome location	13q12.3
Summary	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

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

279

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
B3GLCT-related disorder	Likely pathogenic; Pathogenic	rs199908878, rs80338851	RCV003401733 RCV003398411
Clear cell carcinoma of kidney	Pathogenic	rs80338851	RCV005887162
Familial cancer of breast	Pathogenic	rs80338851	RCV005887161
Lung cancer	Pathogenic	rs80338851	RCV005887164
Peters plus syndrome	Pathogenic; Likely pathogenic	rs1875117878, rs759505367, rs199908878, rs80338851, rs80338850, rs1593258510, rs267606675, rs2137936107, rs1873228351, rs200408982, rs779992631, rs201584510, rs545753153, rs767361165	RCV001614478 RCV001780756 RCV003136172 RCV000001326 RCV000001327 RCV000001329 RCV000001330 RCV002266213 RCV002857528 RCV002979352 RCV003496868 RCV003494913 RCV003990390 RCV000001328
See cases	Likely pathogenic	rs776180719	RCV001195784
Thyroid cancer, nonmedullary, 1	Pathogenic	rs80338851	RCV005887163

Show/Hide Unknown Diseases (17)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Likely benign; Benign	rs117121925, rs34638481	RCV005917835 RCV005894354
Cervical cancer	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	rs34638481, rs114941150, rs2025729	RCV005894357 RCV005897239 RCV005913723 RCV005913725
Colon adenocarcinoma	Benign; Likely benign	rs34638481	RCV005894353
Colorectal cancer	Benign; Likely benign	rs34638481	RCV005894359
Gastric cancer	Likely benign	rs116422728	RCV005916319
Hepatocellular carcinoma	Benign; Likely benign	rs34638481	RCV005894355
Malignant lymphoma, large B-cell, diffuse	Benign	rs398022187	RCV005867217
Malignant tumor of esophagus	Likely benign	rs116422728, rs117121925	RCV005916318 RCV005917836
Marfanoid habitus and intellectual disability	Uncertain significance	rs1593326694	RCV000850420
Melanoma	Conflicting classifications of pathogenicity	rs114941150	RCV005897241
Nonpapillary renal cell carcinoma	Benign; Likely benign	rs398022187, rs34638481	RCV005867216 RCV005894356
Ovarian serous cystadenocarcinoma	Likely benign	rs116422728	RCV005916320
Sarcoma	Benign; Likely benign	rs34638481, rs202096313	RCV005894360 RCV005907172
Thymoma	Benign; Likely benign	rs34638481	RCV005894362
Uterine carcinosarcoma	Benign; Likely benign	rs34638481, rs2025729	RCV005894361 RCV005913724
Uterine corpus endometrial carcinoma	Likely benign; Benign	rs117121925, rs34638481	RCV005917837 RCV005894364
Uveal melanoma	Benign; Likely benign	rs34638481	RCV005894358

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)