TRAPPC14

Chr 7AR

trafficking protein particle complex subunit 14

Also known as: C7orf43, MAP11, MCPH25

NCBI Gene: 55262 ENSG00000146826 UniProt: Q8WVR3 OMIM: 618350

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables alpha-tubulin binding activity. Involved in cilium assembly and regulation of cell population proliferation. Located in several cellular components, including microtubule cytoskeleton; midbody; and plasma membrane. Part of TRAPPII protein complex. Implicated in primary autosomal recessive microcephaly 25. [provided by Alliance of Genome Resources, Apr 2025]

OMIM ResearchGenerating clinical summary…

ARLOEUF 0.491 OMIM phenotype

Clinical Summary— TRAPPC14

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Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.25) despite low pLI — interpret in context.

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 3 VUS of 26 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.49LOEUF

pLI 0.181

Z-score 3.40

OE 0.25 (0.14–0.49)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.21Z-score

OE missense 0.65 (0.58–0.73)

205 obs / 315.8 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.25 (0.14–0.49)

0≤0.351.4

Missense OE?0.65 (0.58–0.73)

0≤0.61.4

Synonymous OE?1.12

0≤1.21.6

LoF obs/exp: 6 / 24.0Missense obs/exp: 205 / 315.8Syn Z: -1.09

ClinVar Variant Classifications

26 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

VUS3

Likely Benign6

Benign2

Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	1	0	0	0	1
Likely Pathogenic	0	0	0	0	0
VUS	0	3	0	0	3
Likely Benign	0	2	1	3	6
Benign	0	0	1	1	2
Total	1	5	2	4	12

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

View in ClinVar →

22 pathogenic / likely-pathogenic (of 31) ClinVar copy-number / structural variants overlap TRAPPC14 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →