TRAPPC11

Chr 4AR

trafficking protein particle complex subunit 11

Also known as: C4orf41, FOIGR, GRY, LGMD2S, LGMDR18

NCBI Gene: 60684ENSG00000168538UniProt: Q7Z392OMIM: 614138

The protein is a subunit of the TRAPP tethering complex that mediates vesicle trafficking from the endoplasmic reticulum to the Golgi apparatus. Mutations cause autosomal recessive limb-girdle muscular dystrophy type 18 through disruption of intracellular vesicle transport.

GeneReviewsOMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.571 OMIM phenotype
Clinical Summary— TRAPPC11
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Gene-Disease Validity (ClinGen)
autosomal recessive limb-girdle muscular dystrophy · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →
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GeneReview available — TRAPPC11
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.57LOEUF
pLI 0.000
Z-score 4.46
OE 0.41 (0.31–0.57)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
0.93Z-score
OE missense 0.89 (0.83–0.96)
534 obs / 598.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.41 (0.31–0.57)
0≤0.351.4
Missense OE0.89 (0.83–0.96)
0≤0.61.4
Synonymous OE0.95
0≤1.21.6
LoF obs/exp: 28 / 67.5Missense obs/exp: 534 / 598.2Syn Z: 0.53

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

TRAPPC11 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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