TRAPPC14

Chr 7AR

trafficking protein particle complex subunit 14

Also known as: C7orf43, MAP11, MCPH25

The protein is a specific subunit of the TRAPP II complex that functions in Golgi trafficking and mediates vesicle transport to the mother centriole during ciliogenesis. Mutations cause primary autosomal recessive microcephaly 25, with autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.494), and the condition affects brain development with primary microcephaly present at birth.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.491 OMIM phenotype
Clinical SummaryTRAPPC14
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.25) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.49LOEUF
pLI 0.181
Z-score 3.40
OE 0.25 (0.140.49)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.21Z-score
OE missense 0.65 (0.580.73)
205 obs / 315.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.25 (0.140.49)
00.351.4
Missense OE0.65 (0.580.73)
00.61.4
Synonymous OE1.12
01.21.6
LoF obs/exp: 6 / 24.0Missense obs/exp: 205 / 315.8Syn Z: -1.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TRAPPC14 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC