GAS2L3
Growth Arrest-Specific 2 Like 3
Gene Information Card
| Symbol | GAS2L3 |
|---|---|
| Full Name | Growth Arrest-Specific 2 Like 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q22 |
| NCBI Gene ID | 283431 ncbi.nlm.nih.gov/gene/283431 |
| Ensembl ID | ENSG00000139329 |
| UniProt ID | Q86XJ0 |
| OMIM ID | 611234 |
| HGNC ID | 25256 |
| Aliases | GAS2L3, FLJ32709, MGC138290 |
Description
GAS2L3 (Growth Arrest-Specific 2 Like 3) is a protein-coding gene located on chromosome 12q22. It encodes a member of the GAS2 family of proteins that regulate cytoskeletal dynamics and cell cycle progression. The protein contains a calponin homology (CH) domain and a GAS2-related (GAR) domain, and is involved in actin filament crosslinking and microtubule stabilization. GAS2L3 is implicated in cell proliferation, differentiation, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression and mutations may contribute to tumorigenesis via cytoskeletal dysregulation | COSMIC, literature |
| Breast cancer | Overexpression associated with poor prognosis; potential role in cell migration | COSMIC, literature |
| Lung cancer | Somatic mutations reported; functional impact under investigation | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Spleen | 8.7 | Medium |
| Lung | 6.5 | Low |
| Colon | 5.2 | Low |
| Breast | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Cervical cancer cell line |
| A549 | 7.3 | Lung cancer cell line |
| MCF7 | 6.1 | Breast cancer cell line |
| HCT116 | 8.5 | Colorectal cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1072C>T (p.Arg358Trp) | Missense | 0.02% | Unknown; predicted damaging by SIFT |
| c.1456G>A (p.Glu486Lys) | Missense | 0.01% | Unknown; predicted benign |
| c.1891_1892insA (p.Thr631Asnfs*5) | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., p.Thr631Asnfs*5) predicted to truncate the protein, disrupting actin-binding and microtubule interaction.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
Not described in literature.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • microtubule binding (GO:0008017) |
| • protein binding (GO:0005515) | • cytoskeleton (GO:0005856) |
| • cell cycle (GO:0007049) | • cell division (GO:0051301) |
Pathways
• Regulation of actin cytoskeleton (Reactome: R-HSA-5663205)
• Cell cycle
• mitotic (Reactome: R-HSA-69278)
Protein Summary
GAS2L3 is a 1030-amino acid protein containing an N-terminal calponin homology (CH) domain and a C-terminal GAS2-related (GAR) domain. It localizes to the cytoskeleton, where it crosslinks actin filaments and stabilizes microtubules. The protein is expressed in a cell cycle-dependent manner, with peak levels during mitosis, and is required for proper cytokinesis and cell division. Post-translational modifications include phosphorylation, which regulates its subcellular localization and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GAS2L3 Knockout HEK293 Cell Line | EDJ-KQ13568 | Human | 283431 | Details Get a Quote |
| GAS2L3 Knockout A-549 Cell Line | EDJ-KQ41954 | Human | 283431 | Details Get a Quote |
| GAS2L3 Knockout HCT 116 Cell Line | EDJ-KQ43212 | Human | 283431 | Details Get a Quote |
| GAS2L3 Knockout HeLa Cell Line | EDJ-KQ43213 | Human | 283431 | Details Get a Quote |
