POGLUT3

Chr 11

protein O-glucosyltransferase 3

Also known as: KDELC2

NCBI Gene: 143888 ENSG00000178202 UniProt: Q7Z4H8

Enables UDP-glucosyltransferase activity and UDP-xylosyltransferase activity. Involved in protein O-linked glycosylation via glucose. Predicted to be located in endoplasmic reticulum lumen. Predicted to be active in endomembrane system. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.17

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.17LOEUF

pLI 0.000

Z-score 0.93

OE 0.79 (0.54–1.17)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.49Z-score

OE missense 0.91 (0.82–1.02)

230 obs / 251.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.79 (0.54–1.17)

0≤0.351.4

Missense OE?0.91 (0.82–1.02)

0≤0.61.4

Synonymous OE?0.97

0≤1.21.6

LoF obs/exp: 18 / 22.8Missense obs/exp: 230 / 251.9Syn Z: 0.25

Background carrier burden — how many people carry a rare variant somewhere in POGLUT3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 80

687 rare PASS variants

Rare truncating (LoF)

1 in 460

112 rare PASS variants

Rare synonymous (reference)

1 in 200

242 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for POGLUT3. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 81	1 in 670
South Asian	~43k	1 in 89	1 in 780
Remaining (unassigned)	~30k	1 in 79	1 in 250
European (Finnish)	~27k	1 in 210	1 in 1,100
Admixed American	~22k	1 in 75	1 in 590
African / African American	~21k	1 in 81	1 in 330
East Asian	~20k	1 in 120	1 in 440
Ashkenazi Jewish	~13k	1 in 350	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 77	1 in 340

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 7 of 8 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 8.? see exons ↓