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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GAS2L2
growth arrest specific 2 like 2
Chromosome 17 Β· 17q12
NCBI Gene: 246176Ensembl: ENSG00000270765.8HGNC: HGNC:24846UniProt: Q8NHY3
15PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
microtubule bundle formationactin filamentprotein localization to microtubule plus-endmicrotubule plus-endprimary ciliary dyskinesiachronic rhinosinusitissinusitismiddle ear disorder
✦AI Summary

GAS2L2 (growth arrest specific 2 like 2) functions as a cytoskeletal cross-linking protein that regulates microtubule dynamics and ciliary function. The protein localizes to the apical surface of ciliated cells, specifically at basal bodies, basal feet, rootlets, and actin filaments 1. GAS2L2 regulates microtubule stability by interacting with microtubule plus-end tracking proteins and controls microtubule growth along actin stress fibers 2. Critically, GAS2L2 is essential for proper ciliary orientation and mucociliary clearance in respiratory epithelia 1. Loss-of-function mutations in GAS2L2 cause primary ciliary dyskinesia (PCD), a genetic disorder characterized by impaired ciliary function and chr17 airway disease 13. Patients with GAS2L2 mutations present with defective ciliary orientation, asynchronous and hyperkinetic ciliary beating patterns (19.8 Hz versus 15.8 Hz in controls), and impaired mucociliary clearance despite normal ciliary axoneme structure 1. The protein has also been associated with mucous otitis media, suggesting broader roles in ciliated epithelial function 4. Additionally, GAS2L2 variants have been identified in recurrent pregnancy loss, though the mechanistic connection requires further investigation 5. These findings establish GAS2L2 as a critical regulator of ciliary function with significant clinical implications for respiratory and potentially reproductive health.

Sources cited
1
GAS2L2 localizes to ciliated cell apical surfaces and is essential for ciliary orientation and mucociliary clearance
PMID: 30665704
2
GAS2L2 regulates microtubule dynamics through interaction with plus-end tracking proteins
PMID: 33103301
3
Homozygous GAS2L2 variants cause primary ciliary dyskinesia in affected families
PMID: 36104176
4
GAS2L2 is associated with mucous otitis media through genome-wide association study
PMID: 39112560
5
GAS2L2 variants identified in patients with idiopathic recurrent pregnancy loss
PMID: 38791485
Disease Associationsβ“˜21
primary ciliary dyskinesiaOpen Targets
0.60Moderate
chronic rhinosinusitisOpen Targets
0.24Weak
middle ear disorderOpen Targets
0.24Weak
sinusitisOpen Targets
0.24Weak
non-suppurative otitis mediaOpen Targets
0.23Weak
upper respiratory tract disorderOpen Targets
0.23Weak
Abnormal mastoid morphologyOpen Targets
0.23Weak
azoospermiaOpen Targets
0.05Suggestive
Female infertility due to fertilization defectOpen Targets
0.05Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.04Suggestive
oocyte maturation defect 14Open Targets
0.04Suggestive
oocyte maturation defect 5Open Targets
0.04Suggestive
Hydatidiform MoleOpen Targets
0.04Suggestive
oocyte maturation defect 9Open Targets
0.04Suggestive
premature ovarian failure 19Open Targets
0.04Suggestive
oocyte maturation defect 13Open Targets
0.04Suggestive
oocyte/zygote/embryo maturation arrest 21Open Targets
0.04Suggestive
oocyte maturation defect 12Open Targets
0.04Suggestive
hearing loss, autosomal recessiveOpen Targets
0.04Suggestive
deafness-infertility syndromeOpen Targets
0.04Suggestive
Ciliary dyskinesia, primary, 41UniProt
Pathogenic Variants1
NM_139285.4(GAS2L2):c.208A>G (p.Asn70Asp)Pathogenic
Primary ciliary dyskinesia 3
β˜†β˜†β˜†β˜†β†’ Residue 70
View on ClinVar β†—
Related Genes
LIPIProtein interaction82%RASL10AProtein interaction81%SPA17Protein interaction81%TEKT1Protein interaction75%DNAAF6Protein interaction71%GAS2L1Shared pathway57%
Tissue Expression6 tissues
Lung
100%
Bone Marrow
27%
Brain
20%
Heart
11%
Ovary
2%
Liver
0%
Gene Interaction Network
Click a node to explore
GAS2L2LIPIRASL10ASPA17TEKT1DNAAF6GAS2L1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q8NHY3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.88LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.61 [0.43–0.88]
RankingsWhere GAS2L2 stands among ~20K protein-coding genes
  • #15,567of 20,598
    Most Researched15
  • #5,432of 5,498
    Most Pathogenic Variants1
  • #7,890of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedGAS2L2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Mucociliary Wnt signaling promotes cilia biogenesis and beating.
PMID: 36878953
Nat Commun Β· 2023
1.00
2
Endometriosis: From Genes to Global Burden.
PMID: 41516028
Int J Mol Sci Β· 2025
0.90
3
Discovery of Pathogenic Variants Associated with Idiopathic Recurrent Pregnancy Loss Using Whole-Exome Sequencing.
PMID: 38791485
Int J Mol Sci Β· 2024
0.80
4
Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and Mucociliary Clearance.
PMID: 30665704
Am J Hum Genet Β· 2019
0.70
5
Genome-wide association study indicates novel associations of annexin A13 to secretory and GAS2L2 with mucous otitis media.
PMID: 39112560
Sci Rep Β· 2024
0.60