GAS7 (Growth Arrest Specific 7)
A key regulator of neuronal development and actin cytoskeleton dynamics
Gene Information Card
| Symbol | GAS7 |
|---|---|
| Full Name | Growth Arrest Specific 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 8522 ncbi.nlm.nih.gov/gene/8522 |
| Ensembl ID | ENSG00000108771 |
| UniProt ID | O60861 |
| OMIM ID | 603127 |
| HGNC ID | 4168 |
| Aliases | MLL/GAS7, KIAA0394 |
Description
GAS7 (Growth Arrest Specific 7) encodes a protein involved in neuronal development and actin cytoskeleton organization. It is predominantly expressed in the brain and plays a role in neurite outgrowth, synaptic plasticity, and cell morphology. The gene is also implicated in cancer, particularly through fusions with MLL in acute myeloid leukemia.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia (AML) | MLL-GAS7 fusion due to t(11;17)(q23;p13) translocation leads to oncogenic transformation | COSMIC, NCBI |
| Schizophrenia | GAS7 expression alterations and SNPs associated with synaptic dysfunction | ClinVar, OMIM |
| Autism spectrum disorder | Rare variants in GAS7 linked to neurodevelopmental phenotypes | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 32.5 | High |
| Cerebellum | 28.1 | High |
| Testis | 12.3 | Medium |
| Lung | 4.2 | Low |
| Liver | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 45.2 | Neuronal model |
| HEK293 (embryonic kidney) | 8.7 | Low endogenous expression |
| K562 (leukemia) | 3.1 | Hematopoietic context |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.567_568insA (p.Glu190Argfs*5) | Frameshift | <0.1% | Loss of function |
| t(11;17)(q23;p13) | Translocation | Rare in AML | MLL-GAS7 fusion, gain of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein and loss of actin-binding activity.
Gain of Function (GOF)
MLL-GAS7 fusion protein acquires aberrant transcriptional activation properties.
Dominant Negative (DN)
Not reported for GAS7.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • actin cytoskeleton organization (GO:0030036) |
| • neurite morphogenesis (GO:0048812) | • nervous system development (GO:0007399) |
| • cytoplasm (GO:0005737) |
Pathways
• Regulation of actin cytoskeleton (Reactome R-HSA-5663222)
• Neuronal system (Reactome R-HSA-112316)
Protein Summary
The GAS7 protein contains an N-terminal F-BAR domain and a C-terminal SH3 domain, mediating membrane curvature and actin cytoskeleton remodeling. It is essential for neurite outgrowth and dendritic spine maturation. Isoforms include GAS7-a, GAS7-b, and GAS7-c, with differential expression in brain regions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GAS7 Knockout HEK293 Cell Line | EDJ-KQ6269 | Human | 8522 | Details Get a Quote |
| GAS7 Knockout A-549 Cell Line | EDJ-KQ30156 | Human | 8522 | Details Get a Quote |
| GAS7 Knockout HCT 116 Cell Line | EDJ-KQ30157 | Human | 8522 | Details Get a Quote |
| GAS7 Knockout HeLa Cell Line | EDJ-KQ30158 | Human | 8522 | Details Get a Quote |
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