CIMAP2

Chr 1

ciliary microtubule associated protein 2

Also known as: C1orf177, LEM, LEXM

NCBI Gene: 163747 ENSG00000162398 UniProt: Q3ZCV2 OMIM: 616446

This gene encodes a ciliary and flagellar associated protein that localizes to the ciliary axoneme and is involved in ciliary motility. Mutations cause primary ciliary dyskinesia-40, an autosomal recessive disorder characterized by chronic respiratory tract infections, bronchiectasis, and situs inversus in approximately half of patients. The gene shows relatively low constraint against loss-of-function variants.

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 1.28

Clinical Summary— CIMAP2

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

61 VUS of 66 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.28LOEUF

pLI 0.000

Z-score 0.49

OE 0.89 (0.63–1.28)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.20Z-score

OE missense 0.96 (0.86–1.08)

228 obs / 236.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.89 (0.63–1.28)

0≤0.351.4

Missense OE?0.96 (0.86–1.08)

0≤0.61.4

Synonymous OE?0.91

0≤1.21.6

LoF obs/exp: 21 / 23.5Missense obs/exp: 228 / 236.5Syn Z: 0.69

ClinVar Variant Classifications

66 submitted variants in ClinVar

ClinVar

Classification Summary

VUS61

Likely Benign2

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	60	1	0	61
Likely Benign	1	0	1	2
Benign	0	0	0	0
Total	61	1	1	63

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

View in ClinVar →

11 pathogenic / likely-pathogenic (of 16) ClinVar copy-number / structural variants overlap CIMAP2 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →