GAL (Galanin) Gene: Structure, Function, and Clinical Significance
A comprehensive biomedical overview of the GAL gene, its protein product galanin, associated diseases, expression patterns, and mutations.
Gene Information Card
| Symbol | GAL |
|---|---|
| Full Name | galanin |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 51083 ncbi.nlm.nih.gov/gene/51083 |
| Ensembl ID | ENSG00000069482 |
| UniProt ID | P22466 |
| OMIM ID | 137035 |
| HGNC ID | 4114 |
| Aliases | GALN, GMAP |
Description
The GAL gene encodes preprogalanin, a precursor protein that is proteolytically processed to produce galanin, a 30-amino acid neuropeptide, and other peptides such as galanin message-associated peptide (GMAP). Galanin is widely expressed in the central and peripheral nervous systems and regulates various physiological processes including pain modulation, cognition, feeding behavior, and neuroendocrine function. It acts through three G-protein-coupled receptors: GALR1, GALR2, and GALR3. Dysregulation of galanin signaling has been implicated in neurological disorders, metabolic conditions, and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Alzheimer's Disease | Galanin overexpression in the basal forebrain may contribute to cholinergic neuron degeneration and cognitive decline. | Evidence from postmortem brain studies and animal models (e.g., PubMed PMID: 14517595). |
| Epilepsy | Galanin has anticonvulsant effects; reduced GAL expression or receptor dysfunction may increase seizure susceptibility. | Studies in GAL knockout mice show increased seizure severity (PubMed PMID: 11487658). |
| Depression | Galanin modulates serotonin and norepinephrine systems; altered GAL signaling is linked to depressive-like behaviors. | Genetic association studies and animal models (PubMed PMID: 17632527). |
| Breast Cancer | Galanin and its receptors are overexpressed in breast cancer tissues, potentially promoting tumor growth and metastasis. | Immunohistochemistry and mRNA analysis in tumor samples (PubMed PMID: 10417684). |
| Obesity | Galanin stimulates food intake and fat deposition; GAL gene variants may influence body weight regulation. | Human genetic association studies (PubMed PMID: 10417684). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High | Highest expression in hypothalamus, amygdala, and basal forebrain. |
| Gastrointestinal Tract | Moderate | Expressed in enteric neurons and endocrine cells. |
| Pancreas | Low | Present in islet cells, involved in insulin regulation. |
| Adrenal Gland | Low | Expression in medullary chromaffin cells. |
| Testis | Low | Detected in Leydig cells. |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (Neuroblastoma) | High | Neuronal-like cells; used for galanin signaling studies. |
| MCF-7 (Breast Cancer) | Moderate | Galanin receptor expression observed. |
| Caco-2 (Colorectal) | Low | Minimal expression. |
| HepG2 (Liver) | Low | Not typically expressed. |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs948854 (promoter variant) | SNP | Allele frequency ~0.3 (1000 Genomes) | May alter GAL expression; associated with psychiatric disorders in some studies. |
| rs694066 (intronic variant) | SNP | Allele frequency ~0.4 | No known functional effect. |
| Missense variants (rare) | SNP | Very rare (<0.01) | Potential impact on peptide processing or receptor binding; not well characterized. |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in GAL are rare and may lead to reduced galanin production, potentially increasing seizure susceptibility and altering pain perception.
Gain of Function (GOF)
Gain-of-function mutations are not well documented; overexpression of GAL in certain cancers may act as a gain-of-function at the tissue level.
Dominant Negative (DN)
No dominant-negative mutations have been reported for GAL.
View complete mutation data:
Gene Ontology (GO)
| • neuropeptide hormone activity | • G protein-coupled receptor binding |
| • regulation of feeding behavior | • neurotransmitter secretion |
| • synaptic transmission | • inflammatory response |
Pathways
• Galanin receptor signaling pathway
• Neuropeptide signaling pathway
• Regulation of insulin secretion
• Pain modulation pathway
Protein Summary
Galanin is a 30-amino acid neuropeptide (in humans) derived from preprogalanin. It is amidated at the C-terminus and contains a conserved N-terminal region essential for receptor binding. Galanin interacts with three GPCRs (GALR1-3) to modulate intracellular signaling cascades, including inhibition of adenylate cyclase and activation of MAPK pathways. It is involved in diverse physiological functions, including nociception, learning and memory, feeding, and neuroendocrine regulation. In pathological conditions, galanin can exert neuroprotective or neurotoxic effects depending on context.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GAL Knockout HEK293T Cell Line | EDJ-KQ97 | Human | 51083 | Details Get a Quote |
| GALR1 Knockout HEK293 Cell Line | EDJ-KQ1116 | Human | 2587 | Details Get a Quote |
| ITGAL Knockout HEK293 Cell Line | EDJ-KQ1350 | Human | 3683 | Details Get a Quote |
| GAL Knockout HEK293 Cell Line | EDJ-KQ2048 | Human | 51083 | Details Get a Quote |
| LGALS9C Knockout HEK293 Cell Line | EDJ-KQ2160 | Human | 654346 | Details Get a Quote |
| LGALS1 Knockout HEK293 Cell Line | EDJ-KQ2283 | Human | 3956 | Details Get a Quote |
| ST6GALNAC3 Knockout HEK293 Cell Line | EDJ-KQ2432 | Human | 256435 | Details Get a Quote |
| LGALS3BP Knockout HEK293 Cell Line | EDJ-KQ2621 | Human | 3959 | Details Get a Quote |
| GALR2 Knockout HEK293 Cell Line | EDJ-KQ2780 | Human | 8811 | Details Get a Quote |
| GALNT13 Knockout HEK293 Cell Line | EDJ-KQ3008 | Human | 114805 | Details Get a Quote |
| LGALS8 Knockout HEK293 Cell Line | EDJ-KQ3067 | Human | 3964 | Details Get a Quote |
| GALK1 Knockout HEK293 Cell Line | EDJ-KQ3079 | Human | 2584 | Details Get a Quote |
| C1GALT1 Knockout HEK293 Cell Line | EDJ-KQ3097 | Human | 56913 | Details Get a Quote |
| ST6GAL1 Knockout HEK293 Cell Line | EDJ-KQ3167 | Human | 6480 | Details Get a Quote |
| GALR3 Knockout HEK293 Cell Line | EDJ-KQ3307 | Human | 8484 | Details Get a Quote |
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