GAS2L1 Gene - Growth Arrest Specific 2 Like 1
A comprehensive biomedical overview of GAS2L1, including genomic context, expression, mutations, and disease associations.
Gene Information Card
| Symbol | GAS2L1 |
|---|---|
| Full Name | Growth Arrest Specific 2 Like 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 22q12.2 |
| NCBI Gene ID | 10634 ncbi.nlm.nih.gov/gene/10634 |
| Ensembl ID | ENSG00000100290 |
| UniProt ID | Q9Y2X0 |
| OMIM ID | 608129 |
| HGNC ID | 16967 |
| Aliases | GAS2L, GAR22, KIAA0506 |
Description
GAS2L1 (Growth Arrest Specific 2 Like 1) is a protein-coding gene located on chromosome 22q12.2. It encodes a member of the GAS2 family of proteins, which are characterized by a calponin homology (CH) domain and a GAS2-related (GAR) domain. The protein is involved in actin cytoskeleton organization, cell cycle regulation, and apoptosis. GAS2L1 is widely expressed in various tissues and has been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression and mutations may affect cytoskeletal dynamics and cell proliferation, contributing to tumorigenesis. | COSMIC, ClinVar |
| Hepatocellular carcinoma | Downregulation of GAS2L1 has been observed, potentially influencing cell migration and invasion. | PubMed, NCBI |
| Colorectal cancer | Mutations and expression changes reported in COSMIC database. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Medium |
| Liver | 6.1 | Low |
| Lung | 9.7 | Medium |
| Kidney | 7.4 | Medium |
| Testis | 15.2 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.5 | Cervical cancer cell line |
| HEK293 | 8.9 | Embryonic kidney cells |
| A549 | 7.2 | Lung cancer cell line |
| MCF7 | 6.8 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Ala34Val) | Missense | <0.01% | Unknown significance |
| c.452G>A (p.Arg151Gln) | Missense | <0.01% | Unknown significance |
| c.788_789insA | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.788_789insA) are predicted to cause premature truncation and loss of protein function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • protein binding (GO:0005515) |
| • cytoplasm (GO:0005737) | • cytoskeleton (GO:0005856) |
| • apoptotic process (GO:0006915) | • actin cytoskeleton organization (GO:0030036) |
Pathways
• Regulation of actin cytoskeleton (Reactome: R-HSA-5663205)
• Apoptosis (Reactome: R-HSA-109581)
Protein Summary
The GAS2L1 protein (UniProt Q9Y2X0) is 1,003 amino acids long and contains a calponin homology (CH) domain at the N-terminus and a GAS2-related (GAR) domain at the C-terminus. It localizes to the cytoplasm and cytoskeleton, where it binds actin and modulates filament dynamics. The protein is involved in cell cycle arrest and apoptosis, and its expression is regulated during growth arrest.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GAS2L1 Knockout HEK293 Cell Line | EDJ-KQ7113 | Human | 10634 | Details Get a Quote |
| GAS2L1 Knockout A-549 Cell Line | EDJ-KQ31980 | Human | 10634 | Details Get a Quote |
| GAS2L1 Knockout HCT 116 Cell Line | EDJ-KQ31981 | Human | 10634 | Details Get a Quote |
| GAS2L1 Knockout HeLa Cell Line | EDJ-KQ31982 | Human | 10634 | Details Get a Quote |
