GAP43: Growth Associated Protein 43
A key neuronal growth-associated protein involved in axonal guidance, synaptic plasticity, and regeneration.
Gene Information Card
| Symbol | GAP43 |
|---|---|
| Full Name | Growth Associated Protein 43 |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.31 |
| NCBI Gene ID | 2596 ncbi.nlm.nih.gov/gene/2596 |
| Ensembl ID | ENSG00000172020 |
| UniProt ID | P17677 |
| OMIM ID | 162060 |
| HGNC ID | 4140 |
| Aliases | B-50, PP46, GAP-43, neuromodulin |
Description
GAP43 (Growth Associated Protein 43) encodes a nervous tissue-specific protein that is a major component of the neuronal growth cone. It plays a critical role in axonal guidance, long-term potentiation, and synaptic plasticity. The protein is phosphorylated by protein kinase C and interacts with calmodulin. GAP43 expression is high during neuronal development and regeneration, and it is a marker for axonal sprouting.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer disease | Altered GAP43 expression correlates with synaptic loss and cognitive decline. | ClinVar, NCBI Gene |
| Schizophrenia | Genetic variants in GAP43 have been associated with altered prefrontal cortex function. | OMIM, NCBI Gene |
| Bipolar disorder | Polymorphisms in GAP43 may contribute to mood disorder susceptibility. | NCBI Gene |
| Spinal cord injury | GAP43 is upregulated in regenerating axons after injury. | NCBI Gene |
| Peripheral nerve injury | Increased GAP43 expression promotes axonal regeneration. | NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 78.2 | High |
| Cerebral cortex | 85.1 | High |
| Hippocampus | 92.3 | High |
| Spinal cord | 45.6 | Medium |
| Adrenal gland | 12.4 | Low |
| Testis | 8.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 62.5 | Neuronal differentiation model |
| U-87 MG (glioblastoma) | 18.3 | Low expression |
| HEK293 (embryonic kidney) | 2.1 | Non-neuronal, low expression |
| PC-12 (pheochromocytoma) | 55.0 | NGF-induced upregulation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200C>T (p.Pro67Leu) | Missense | <0.01% | Unknown functional effect |
| c.415G>A (p.Ala139Thr) | Missense | <0.01% | Reported in schizophrenia studies |
| c.1-?_*_?del | Deletion | Rare | Loss of function, associated with neurodevelopmental delay |
Mutation functional classification
Loss of Function (LOF)
Deletion of the entire GAP43 gene leads to loss of protein function, impairing axonal growth and synaptic plasticity.
Gain of Function (GOF)
Not well documented; overexpression in transgenic mice enhances axonal sprouting.
Dominant Negative (DN)
Not reported for GAP43.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Axon guidance (Reactome: R-HSA-422475)
• Signaling by NGF (Reactome: R-HSA-166520)
• Long-term potentiation (KEGG: hsa04720)
• Neurotrophin signaling pathway (KEGG: hsa04722)
Protein Summary
GAP43 is a 43 kDa intracellular protein predominantly expressed in neurons. It is localized to the growth cone membrane and is essential for neurite outgrowth and pathfinding. The protein binds calmodulin in a calcium-dependent manner and is a substrate for protein kinase C. Phosphorylation of GAP43 modulates its interaction with the actin cytoskeleton, facilitating dynamic changes in growth cone motility. GAP43 is widely used as a marker for axonal regeneration and synaptic plasticity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GAP43 Knockout HEK293 Cell Line | EDJ-KQ4679 | Human | 2596 | Details Get a Quote |
| GAP43 Knockout HeLa Cell Line | EDJ-KQ53304 | Human | 2596 | Details Get a Quote |
| GAP43 Knockout A-549 Cell Line | EDJ-KQ61788 | Human | 2596 | Details Get a Quote |
| GAP43 Knockout HCT 116 Cell Line | EDJ-KQ70269 | Human | 2596 | Details Get a Quote |
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