CIMIP4

Chr 22

ciliary microtubule inner protein 4

Also known as: C22orf33, EAN57, TEX33, cE81G9.2

The protein is predicted to localize to sperm flagella and appears to be involved in spermiogenesis but is not essential for sperm development or male fertility. No human disease associations have been established for mutations in this gene. The gene shows low constraint against loss-of-function variants, consistent with its non-essential role in fertility.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.54
Clinical SummaryCIMIP4
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
17 unique Pathogenic / Likely Pathogenic· 55 VUS of 83 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.54LOEUF
pLI 0.000
Z-score 0.19
OE 0.94 (0.591.54)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.70Z-score
OE missense 1.17 (1.031.33)
163 obs / 139.6 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.94 (0.591.54)
00.351.4
Missense OE1.17 (1.031.33)
00.61.4
Synonymous OE1.08
01.21.6
LoF obs/exp: 11 / 11.7Missense obs/exp: 163 / 139.6Syn Z: -0.46

ClinVar Variant Classifications

83 submitted variants in ClinVar

Classification Summary

Pathogenic16
Likely Pathogenic1
VUS55
Likely Benign9
Conflicting1
16
Pathogenic
1
Likely Pathogenic
55
VUS
9
Likely Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
16
0
16
Likely Pathogenic
0
0
1
0
1
VUS
0
50
5
0
55
Likely Benign
0
9
0
0
9
Benign
0
0
0
0
0
Conflicting
1
Total05922082

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

View in ClinVar →

Protein Context — Lollipop Plot

CIMIP4 · 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.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found