POPDC3

Chr 6

popeye domain cAMP effector 3

Also known as: LGMDR26, POP3, bA355M14.1

NCBI Gene: 64208ENSG00000132429UniProt: Q9HBV1

This gene encodes a member of the POP family of proteins containing three putative transmembrane domains. This gene is expressed in cardiac and skeletal muscle and may play an important role in these tissues during development. Alternatively spliced transcript variants have been found. [provided by RefSeq, Nov 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscular dystrophy, limb-girdle, autosomal recessive 26

Clinical highlights

Gene-disease validity (ClinGen)
autosomal recessive limb-girdle muscular dystrophy · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.90
LOEUF
Multiple*
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?
0.90LOEUF
pLI 0.011
Z-score 1.81
OE 0.43 (0.22–0.90)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.67Z-score
OE missense 0.85 (0.74–0.98)
133 obs / 156.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.22–0.90)
0≤0.351.4
Missense OE?0.85 (0.74–0.98)
0≤0.61.4
Synonymous OE?1.07
0≤1.21.6
LoF obs/exp: 5 / 11.7Missense obs/exp: 133 / 156.5Syn Z: -0.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

POPDC3 · 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.

Search ClinicalTrials.gov →

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