GeneBe

B3GLCT

beta 3-glucosyltransferase, the group of Beta 3-glycosyltransferases

Basic information

Region (hg38): 13:31199975-31332276

Previous symbols: [ "B3GALTL" ]

Links

ENSG00000187676 ∙ NCBI:145173 ∙ OMIM:610308 ∙ HGNC:20207 ∙ Uniprot:Q6Y288 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • Peters plus syndrome (Strong), mode of inheritance: AR
  • Peters plus syndrome (Strong), mode of inheritance: AR
  • Peters plus syndrome (Strong), mode of inheritance: AR
  • Peters plus syndrome (Supportive), mode of inheritance: AR
  • Peters plus syndrome (Definitive), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Peters-plus syndromeAROphthalmologicIndividuals may be at high risk for ophthalmologic complications, including glaucoma, and surveillance may allow early interventions and managementCraniofacial; Musculoskeletal; Neurologic; Ophthalmologic16909395; 18199743; 18798333; 19796186; 20301637; 21067481; 21671750; 22759511

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the B3GLCT gene.

  • Peters_plus_syndrome (145 variants)
  • Inborn_genetic_diseases (76 variants)
  • not_provided (50 variants)
  • B3GLCT-related_disorder (13 variants)
  • not_specified (9 variants)
  • Marfanoid_habitus_and_intellectual_disability (1 variants)
  • See_cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the B3GLCT gene is commonly pathogenic or not. These statistics are base on transcript: NM_000194318.4. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
7
clinvar
43
clinvar
1
clinvar
 51
missense
1
clinvar
3
clinvar
103
clinvar
7
clinvar
1
clinvar
 115
nonsense
2
clinvar
1
clinvar
3
clinvar
 6
start loss
0
frameshift
4
clinvar
2
clinvar
1
clinvar
 7
splice donor/acceptor (+/-2bp)
2
clinvar
5
clinvar
 7
Total 9 11 114 50 2

Highest pathogenic variant AF is 0.001034188

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
B3GLCTprotein_codingprotein_codingENST00000343307 15132341
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
7.14e-170.015212545012971257480.00119
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3922372550.9310.00001293264
Missense in Polyphen8394.7930.875591187
Synonymous-1.5511696.61.200.00000591908
Loss of Function0.3472628.00.9290.00000125359

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001520.00152
Ashkenazi Jewish0.0006990.000695
East Asian0.0002720.000272
Finnish0.004130.00370
European (Non-Finnish)0.001310.00129
Middle Eastern0.0002720.000272
South Asian0.0004260.000425
Other0.0009950.000978

dbNSFP

Source: dbNSFP

Function
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:16899492}.;
Pathway
Other types of O-glycan biosynthesis - Homo sapiens (human);Post-translational protein modification;Metabolism of proteins;O-glycosylation of TSR domain-containing proteins;O-linked glycosylation (Consensus)

Recessive Scores

pRec
0.138

Intolerance Scores

loftool
rvis_EVS
0.07
rvis_percentile_EVS
58.96

Haploinsufficiency Scores

pHI
0.222
hipred
N
hipred_score
0.247
ghis
0.473

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Mouse Genome Informatics

Gene name
B3glct
Phenotype

Gene ontology

Biological process
fucose metabolic process;protein O-linked fucosylation
Cellular component
endoplasmic reticulum membrane;integral component of membrane
Molecular function
acetylglucosaminyltransferase activity;transferase activity, transferring glycosyl groups