TRAPPC11

Chr 4

trafficking protein particle complex subunit 11

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

NCBI Gene: 60684 ENSG00000168538 UniProt: Q7Z392

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.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMuscular dystrophy, limb-girdle, autosomal recessive 18

Clinical highlights

Gene–disease validity (ClinGen)

Definitive · autosomal recessive limb-girdle muscular dystrophy · AR · ClinGen 2024

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.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.57

LOEUF

LOF

Mechanism· G2P

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GeneReview available — TRAPPC11

Authoritative clinical overview · Recommended first read

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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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

Background carrier burden — how many people carry a rare variant somewhere in TRAPPC11?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 42

1,336 rare PASS variants

Rare truncating (LoF)

1 in 810

234 rare PASS variants

Rare synonymous (reference)

1 in 110

479 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TRAPPC11. 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 59	1 in 870
South Asian	~43k	1 in 46	1 in 930
Remaining (unassigned)	~30k	1 in 41	1 in 970
European (Finnish)	~27k	1 in 220	1 in 3,000
Admixed American	~22k	1 in 46	1 in 370
African / African American	~21k	1 in 50	1 in 680
East Asian	~20k	1 in 43	1 in 470
Ashkenazi Jewish	~13k	1 in 400	1 in 2,600
Middle Eastern	~2,884	1 in 55	1 in 560

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.