TRAPPC2L

Chr 16

trafficking protein particle complex subunit 2L

Also known as: HSPC176, PERRB

This gene encodes a protein that interacts with the tethering factor trafficking protein particle (TRAPP complex). TRAPP complexes mediate the contact between vescicles and target membranes, and thus, are involved in vescicle-mediated transport of proteins and lipids. The encoded protein is related to the X-linked trafficking protein particle complex 2. A related pseudogene is located on the X chromosome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtEncephalopathy, progressive, early-onset, with episodic rhabdomyolysis
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
1.95
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.95LOEUF
pLI 0.000
Z-score -1.69
OE 1.65 (1.021.95)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.38Z-score
OE missense 1.11 (0.951.31)
102 obs / 91.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.65 (1.021.95)
00.351.4
Missense OE?1.11 (0.951.31)
00.61.4
Synonymous OE?1.45
01.21.6
LoF obs/exp: 13 / 7.9Missense obs/exp: 102 / 91.7Syn Z: -2.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TRAPPC2L · 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

No active trials found for this gene.

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