B3GNT5

Chr 3

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5

Also known as: B3GN-T5, beta3Gn-T5

NCBI Gene: 84002ENSG00000176597UniProt: Q9BYG0OMIM: 615333

This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008]

OMIMResearchGenerating clinical summary…
LOEUF 0.48
Clinical Summary— B3GNT5
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Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.73) — some intolerance to loss-of-function variants.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.48LOEUF
pLI 0.726
Z-score 2.82
OE 0.15 (0.06–0.48)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.05Z-score
OE missense 0.80 (0.70–0.91)
167 obs / 209.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.15 (0.06–0.48)
0≤0.351.4
Missense OE?0.80 (0.70–0.91)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 2 / 13.0Missense obs/exp: 167 / 209.9Syn Z: 0.74

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

B3GNT5 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients