GAS2L2
Chr 17ARgrowth arrest specific 2 like 2
Also known as: CILD41, GAR17
The protein encoded by this gene appears to crosslink microtubules and microfilaments and may be part of the cytoskeleton. This gene is mainly expressed in skeletal muscle. [provided by RefSeq, Jul 2011]
Primary Disease Associations & Inheritance
?Ciliary dyskinesia, primary, 41MIM #618449
AR
Clinical Summary— GAS2L2
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Gene-Disease Validity (ClinGen)
ciliary dyskinesia, primary, 41 · ARModerate
Moderate evidence — consider for supplementary testing
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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
8 Pathogenic / Likely Pathogenic· 156 VUS of 230 total submissions
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Open GeneReview ↗GeneReview available — GAS2L2
Authoritative clinical overview · Recommended first read
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.79LOEUF
pLI 0.000
Z-score 2.40
OE 0.51 (0.33–0.79)
Typical tolerance to LoF variation
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.36Z-score
OE missense 1.04 (0.97–1.12)
531 obs / 508.1 exp
Tolerant to missense variation
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.51 (0.33–0.79)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.04 (0.97–1.12)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.10
0≤1.21.6
LoF obs/exp: 14 / 27.6Missense obs/exp: 531 / 508.1Syn Z: -1.19
ClinVar Variant Classifications
230 submitted variants in ClinVar
Classification Summary
Pathogenic8
VUS156
Likely Benign42
Benign22
Conflicting2
8
Pathogenic
156
VUS
42
Likely Benign
22
Benign
2
Conflicting
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 1 | 7 | 0 | 8 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 2 | 148 | 6 | 0 | 156 |
Likely Benign | 0 | 25 | 2 | 15 | 42 |
Benign | 0 | 10 | 8 | 4 | 22 |
Conflicting | — | 2 | |||
| Total | 2 | 184 | 23 | 19 | 230 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GAS2L2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
Gene2Phenotype Curations
GAS2L2-related impaired cilia orientation and mucociliary clearance
strongGene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
GROWTH ARREST-SPECIFIC 2-LIKE 2; GAS2L2
MIM #611398 · *
Autosomal recessive
External Resources
Links to major genomics databases and tools
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Open GeneReview ↗GeneReview available — GAS2L2
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Discovery of Pathogenic Variants Associated with Idiopathic Recurrent Pregnancy Loss Using Whole-Exome Sequencing.
Lee JY et al.·Int J Mol Sci
2024
A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary Ciliary Dyskinesia.
Feng G et al.·Intern Med
2022Case report
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.
Bustamante-Marin XM et al.·Am J Hum Genet
2019
Integrative analysis regarding the correlation between GAS2 family genes and human glioma prognosis.
Zhao C et al.·Cancer Med
2021
Genetic biomarkers associated with pain flare and dexamethasone response following palliative radiotherapy in patients with painful bone metastases.
Furfari A et al.·Ann Palliat Med
2017Cohort
Identification of Radioresponsive Genes in Esophageal Cancer from Longitudinal and Single Cell Exome Sequencing.
Yang L et al.·Int J Radiat Oncol Biol Phys
2020Natural history
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Genome-wide association study indicates novel associations of annexin A13 to secretory and GAS2L2 with mucous otitis media.
Bizaki-Vallaskangas A et al.·Sci Rep
2024Open Access
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Gene expression profiling in pure neural leprosy: insights into pathogenesis and diagnostic biomarkers
de Athaide MM et al.·Front Immunol
2025
A comprehensive analysis of GAS2 family members identifies that GAS2L1 is a novel biomarker and promotes the proliferation of hepatocellular carcinoma
Xu YY et al.·Discov Oncol
2024
One person can make a difference: identification of people with a rare genetic lung disease
Horani A et al.·ERJ Open Res
2023
Top 6 full-text resultsSearch PubTator3 ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools