TRAPPC11

Chr 4AR

trafficking protein particle complex subunit 11

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

NCBI Gene: 60684ENSG00000168538UniProt: Q7Z392

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]

Primary Disease Associations & Inheritance

Muscular dystrophy, limb-girdle, autosomal recessive 18MIM #615356
AR
496
ClinVar variants
115
Pathogenic / LP
0.00
pLI score
2
Active trials
Clinical Summary— TRAPPC11
🧬
Gene-Disease Validity (ClinGen)
autosomal recessive limb-girdle muscular dystrophy · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
115 Pathogenic / Likely Pathogenic· 189 VUS of 496 total submissions
💊
Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
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?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
0.93Z-score
OE missense 0.89 (0.83–0.96)
534 obs / 598.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.41 (0.31–0.57)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.89 (0.83–0.96)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.95
0≤1.21.6
LoF obs/exp: 28 / 67.5Missense obs/exp: 534 / 598.2Syn Z: 0.53

ClinVar Variant Classifications

496 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic92
Likely Pathogenic23
VUS189
Likely Benign170
Benign15
Conflicting7
92
Pathogenic
23
Likely Pathogenic
189
VUS
170
Likely Benign
15
Benign
7
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
13
0
79
0
92
Likely Pathogenic
9
3
11
0
23
VUS
2
168
13
6
189
Likely Benign
0
10
73
87
170
Benign
0
4
8
3
15
Conflicting
—7
Total2418518496496

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in 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.

Gene2Phenotype Curations

TRAPPC11-related muscular dystrophy, limb-girdle

definitive
ARLoss Of FunctionAbsent Gene Product
Dev. DisordersEye
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Muscular dystrophy, limb-girdle, autosomal recessive 18

MIM #615356

Molecular basis of disorder known

Autosomal recessive
📖
GeneReview available — TRAPPC11
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.
Lin F et al.·Orphanet J Rare Dis
2023Cohort
TRAPPC11-CDG muscular dystrophy: Review of 54 cases including a novel patient.
Corona-Rivera JR et al.·Mol Genet Metab
2024Review
TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy.
Larson AA et al.·Skelet Muscle
2018Case report
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
Justel M et al.·J Med Genet
2023
Large TRAPPC11 gene deletions as a cause of muscular dystrophy and their estimated genesis.
Kopčilová J et al.·J Med Genet
2024Case report
Prediction of vaginal birth after induction of labor with maternal circulating RNA transcripts.
Ding W et al.·Am J Obstet Gynecol
2025
Exome Array Analysis of Early-Onset Ischemic Stroke.
Jaworek T et al.·Stroke
2020
Characterization of three TRAPPC11 variants suggests a critical role for the extreme carboxy terminus of the protein.
Milev MP et al.·Sci Rep
2019Case report
Genetic basis of limb-girdle muscular dystrophies: the 2014 update.
Nigro V et al.·Acta Myol
2014Review
A novel TRAPPC11 mutation in two Turkish families associated with cerebral atrophy, global retardation, scoliosis, achalasia and alacrima.
Koehler K et al.·J Med Genet
2017
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Congenital Muscular Dystrophy With ITGA7 (Integrin Alpha-7) DeficiencyAlpha-Dystroglycanopathy (Congenital Muscular Dystrophy and Abnormal Glycosylation of Dystroglycan With Severe Epilepsy)Alpha-Dystroglycanopathy (Congenital Muscular Dystrophy With Fatty Liver and Infantile-onset Cataract Caused by TRAPPC11 Mutations)

Congenital Muscle Disease Study of Patient and Family Reported Medical Information

RECRUITING
NCT01403402Cure CMDStarted 2009-09
Muscular Dystrophy

Clinical Trial Readiness for the Dystroglycanopathies

RECRUITING
NCT00313677Katherine MathewsStarted 2006-04

External Resources

Links to major genomics databases and tools