TRAPPC11

Chr 4AR

trafficking protein particle complex subunit 11

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

NCBI Gene: 60684ENSG00000168538UniProt: Q7Z392OMIM: 614138

The protein encoded by this gene is a subunit of the TRAPP (transport protein particle) tethering complex, which functions in intracellular vesicle trafficking. This subunit is involved in early stage endoplasmic reticulum-to-Golgi vesicle transport. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2013]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Muscular dystrophy, limb-girdle, autosomal recessive 18MIM #615356
AR

Clinical highlights

Gene-disease validity (ClinGen)
autosomal recessive limb-girdle muscular dystrophy · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
2
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.57
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — TRAPPC11
Authoritative clinical overview · Recommended first read
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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 OE?0.41 (0.31–0.57)
0≤0.351.4
Missense OE?0.89 (0.83–0.96)
0≤0.61.4
Synonymous OE?0.95
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.

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