GAS2L2 Gene - Growth Arrest Specific 2 Like 2
Comprehensive genomic and functional analysis of GAS2L2, a cytoskeletal adaptor protein gene involved in actin dynamics and ciliogenesis.
Gene Information Card
| Symbol | GAS2L2 |
|---|---|
| Full Name | Growth Arrest Specific 2 Like 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 246176 ncbi.nlm.nih.gov/gene/246176 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q8NHU6 |
| OMIM ID | 611398 |
| HGNC ID | 25248 |
| Aliases | GAS2L, GAS-2-like 2, FLJ32786 |
Description
GAS2L2 (Growth Arrest Specific 2 Like 2) is a protein-coding gene that encodes a member of the GAS2 family of cytoskeletal adaptor proteins. The protein contains a calponin homology (CH) domain and a GAS2-related (GAR) domain, which mediate binding to actin filaments and microtubules, respectively. GAS2L2 is involved in the regulation of actin dynamics, cell shape, and primary cilia formation. It is widely expressed in tissues with motile cilia, such as the respiratory tract and ependyma, and plays a critical role in ciliogenesis and planar cell polarity.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia (PCD) | Loss-of-function mutations in GAS2L2 disrupt ciliary assembly and function, leading to impaired mucociliary clearance. | ClinVar, OMIM |
| Spermatogenic failure | Defects in GAS2L2 affect sperm flagella formation, causing reduced motility and male infertility. | OMIM, PubMed |
| Hydrocephalus | GAS2L2 deficiency in ependymal cells impairs ciliary beating and cerebrospinal fluid flow, contributing to ventriculomegaly. | Mouse model studies |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lung | 8.3 | Medium |
| Brain (cerebellum) | 6.1 | Low |
| Kidney | 4.7 | Low |
| Heart | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung carcinoma) | 5.2 | Moderate expression |
| HepG2 (hepatocellular carcinoma) | 3.8 | Low expression |
| HeLa (cervical adenocarcinoma) | 2.1 | Low expression |
| K562 (leukemia) | 1.5 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.100C>T (p.Arg34*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.457G>A (p.Gly153Ser) | Missense | <0.01% | Unknown significance |
| c.784_785del (p.Leu262fs) | Frameshift | <0.01% | Loss of function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations (e.g., p.Arg34*, p.Leu262fs) lead to truncated or absent protein, impairing actin-microtubule crosslinking and ciliogenesis.
Gain of Function (GOF)
No gain-of-function mutations have been reported for GAS2L2.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for GAS2L2.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • microtubule binding (GO:0008017) |
| • actin cytoskeleton organization (GO:0030036) | • cilium assembly (GO:0060271) |
| • centrosome (GO:0005813) | • cilium (GO:0005929) |
Pathways
• Cilium assembly (Reactome: R-HSA-5617833)
• Actin cytoskeleton regulation (KEGG: hsa04810)
Protein Summary
The GAS2L2 protein (UniProt Q8NHU6) is a 366-amino-acid cytoskeletal adaptor that crosslinks actin filaments and microtubules via its N-terminal CH domain and C-terminal GAR domain. It localizes to the centrosome and basal body, where it facilitates ciliary vesicle docking and axoneme elongation. Post-translational modifications include phosphorylation at Ser-273, which may regulate its stability and interaction partners. The protein is essential for the formation and function of primary and motile cilia.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GAS2L2 Knockout HEK293 Cell Line | EDJ-KQ11535 | Human | 246176 | Details Get a Quote |
| GAS2L2 Knockout HeLa Cell Line | EDJ-KQ59227 | Human | 246176 | Details Get a Quote |
| GAS2L2 Knockout A-549 Cell Line | EDJ-KQ67695 | Human | 246176 | Details Get a Quote |
| GAS2L2 Knockout HCT 116 Cell Line | EDJ-KQ76079 | Human | 246176 | Details Get a Quote |
