EFHC2

Chr X

EF-hand domain containing 2

Also known as: MRX74, dJ1158H2.1

NCBI Gene: 80258ENSG00000183690UniProt: Q5JST6

The protein is a microtubule inner protein component of ciliary axonemes that contains calcium-binding EF-hand motifs and is required for motile cilia beating. Mutations cause epilepsy, and the gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.15). The inheritance pattern has not been definitively established from the available data.

Summary from RefSeq, UniProt
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0
Active trials
0
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.15
LOEUF· LoF intol.
—
Mechanism
Clinical Summary— EFHC2
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.15LOEUF
pLI 0.999
Z-score 4.18
OE 0.00 (0.00–0.15)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint
0.62Z-score
OE missense 0.89 (0.79–0.99)
216 obs / 243.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.00 (0.00–0.15)
0≤0.351.4
Missense OE0.89 (0.79–0.99)
0≤0.61.4
Synonymous OE0.96
0≤1.21.6
LoF obs/exp: 0 / 20.3Missense obs/exp: 216 / 243.3Syn Z: 0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EFHC2 · 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

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 3 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients