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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
GAS2
growth arrest specific 2
Chromosome 11 Β· 11p14.3
NCBI Gene: 2620Ensembl: ENSG00000148935.13HGNC: HGNC:4167UniProt: O43903
34PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
actin crosslink formationactin filament bindingcytosolactin filamentFanconi anemiaFanconi anemia complementation group Fhearing loss, autosomal recessive 125sensorineural hearing loss
✦AI Summary

GAS2 is a microfilament-associated protein that functions as a critical cytoskeletal regulator with dual interactions with actin filaments and microtubules 1. The protein contains calponin homology (CH) domains for actin binding and a GAR (Gas2-related) domain for microtubule binding 2, enabling it to mediate crosslinking and bundling of both cytoskeletal components through C-terminal-dependent dimerization 1. In the inner ear, GAS2 maintains microtubule bundles in supporting cells, providing mechanical stiffness necessary for sound transmission through the cochlea. Mechanistically, GAS2 regulates cellular processes including cell cycle progression, apoptosis, and senescence 3, partially through inhibition of Calpain-2, a calcium-dependent protease 3. The protein is cleaved by ICE-like proteases during apoptosis, inducing cytoskeletal rearrangements 4. Clinically, GAS2 mutations causing C-terminal truncation are linked to autosomal recessive deafness (DFNB125) due to disrupted cytoskeletal organization in auditory tissues 1. Beyond hearing loss, GAS2 exhibits context-dependent roles in cancer: it enhances chemosensitivity while promoting T-cell leukemogenesis through CXCR4/NOTCH1/c-MYC signaling 5, and regulates osteoarthritis progression through apoptosis regulation 6. GAS2 is located on chromosome 11.3-p15.2 4.

Sources cited
1
GAS2 dimerizes to crosslink microtubules and F-actin through CH3 and GAR domains; C-terminal region essential for bundling; mutations causing C-terminal truncation linked to hearing loss
PMID: 40169809
2
GAS2 is microfilament-associated; cleaved by ICE-like protease during apoptosis; located on chromosome 11p14.3-p15.2
PMID: 9521882
3
GAS2 regulates cytoskeletal dynamics, cell cycle, apoptosis, and senescence; acts as endogenous inhibitor of Calpain-2
PMID: 39744572
4
GAS2-related proteins contain calponin homology actin-binding domain and Gas2-related microtubule-binding domain; beta isoforms crosslink microtubules and microfilaments
PMID: 12584248
5
GAS2 promotes T-cell leukemogenesis through interaction with CXCR4 to activate NOTCH1/c-MYC pathway
PMID: 36054080
6
GAS2 regulates chondrocyte apoptosis and is involved in osteoarthritis progression through IL-1Ξ² signaling
PMID: 34051811
Disease Associationsβ“˜21
Fanconi anemiaOpen Targets
0.54Moderate
Fanconi anemia complementation group FOpen Targets
0.53Moderate
hearing loss, autosomal recessive 125Open Targets
0.41Moderate
sensorineural hearing lossOpen Targets
0.40Moderate
disorder of earOpen Targets
0.34Weak
asthmaOpen Targets
0.30Weak
PainOpen Targets
0.30Weak
Abruptio PlacentaeOpen Targets
0.28Weak
COVID-19Open Targets
0.23Weak
severe acute respiratory syndromeOpen Targets
0.23Weak
breast benign neoplasmOpen Targets
0.22Weak
genetic disorderOpen Targets
0.18Weak
hereditary neoplastic syndromeOpen Targets
0.12Weak
Inherited cancer-predisposing syndromeOpen Targets
0.12Weak
ocular hypotensionOpen Targets
0.11Weak
smoking initiationOpen Targets
0.11Weak
hearing lossOpen Targets
0.10Suggestive
chronic myelogenous leukemiaOpen Targets
0.09Suggestive
Sensorineural hearing impairmentOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
Deafness, autosomal recessive, 125UniProt
Pathogenic Variants2
NM_001143830.3(GAS2):c.723+1G>APathogenic
Hearing loss, autosomal recessive 125
β˜†β˜†β˜†β˜†2024
NM_001143830.3(GAS2):c.533C>T (p.Thr178Ile)Likely pathogenic
Hearing loss, autosomal recessive 125
β˜†β˜†β˜†β˜†2024β†’ Residue 178
View on ClinVar β†—
Related Genes
GAS1Protein interaction93%LUZP2Protein interaction91%CASP7Protein interaction84%RASL10AProtein interaction79%LIPIProtein interaction76%PPLProtein interaction71%
Tissue Expression6 tissues
Liver
100%
Heart
29%
Ovary
11%
Brain
7%
Lung
4%
Bone Marrow
3%
Gene Interaction Network
Click a node to explore
GAS2GAS1LUZP2CASP7RASL10ALIPIPPL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O43903
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.76LoF Tolerant
pLIβ“˜
0.01Tolerant
Observed/Expected LoF0.50 [0.34–0.76]
RankingsWhere GAS2 stands among ~20K protein-coding genes
  • #11,158of 20,598
    Most Researched34
  • #4,491of 5,498
    Most Pathogenic Variants2
  • #6,018of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedGAS2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
cDNA characterization and chromosome mapping of the human GAS2 gene.
PMID: 9521882
Genomics Β· 1998
1.00
2
Integrative analysis regarding the correlation between GAS2 family genes and human glioma prognosis.
PMID: 33713047
Cancer Med Β· 2021
0.90
3
miR-520c-3p regulates IL-1Ξ²-stimulated human chondrocyte apoptosis and cartilage degradation by targeting GAS2.
PMID: 34051811
J Orthop Surg Res Β· 2021
0.80
4
Growth arrest-specific protein 2 (GAS2) interacts with CXCR4 to promote T-cell leukemogenesis partially via c-MYC.
PMID: 36054080
Mol Oncol Β· 2022
0.70
5
Insights into Structure and Function of Growth Arrest Specific 2 (GAS2).
PMID: 39744572
J Cancer Β· 2025
0.60