LSAMP Gene - Limbic System Associated Membrane Protein
Comprehensive genomic and functional analysis of LSAMP, a neural adhesion molecule implicated in neuropsychiatric disorders and cancer.
Gene Information Card
| Symbol | LSAMP |
|---|---|
| Full Name | Limbic system associated membrane protein |
| Gene Type | Protein coding |
| Chromosomal Location | 3q13.31 |
| NCBI Gene ID | 4045 ncbi.nlm.nih.gov/gene/4045 |
| Ensembl ID | ENSG00000185507 |
| UniProt ID | Q13449 |
| OMIM ID | 603241 |
| HGNC ID | 6705 |
| Aliases | LAMP, IGLON3, LAMP-1 |
Description
LSAMP encodes a member of the IgLON family of cell adhesion molecules, which are glycosylphosphatidylinositol (GPI)-anchored proteins. It is primarily expressed in the limbic system of the brain and plays a role in neuronal development, axon guidance, and synaptic plasticity. LSAMP is involved in psychiatric disorders such as schizophrenia and bipolar disorder, and its altered expression has been linked to various cancers, including renal cell carcinoma and neuroblastoma.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered LSAMP expression may disrupt limbic system connectivity and synaptic function. | NCBI Gene, OMIM |
| Bipolar disorder | Genetic association studies implicate LSAMP variants in mood regulation pathways. | OMIM, ClinVar |
| Renal cell carcinoma | Downregulation of LSAMP is associated with tumor progression and poor prognosis. | COSMIC, NCBI Gene |
| Neuroblastoma | LSAMP acts as a tumor suppressor; loss of expression correlates with aggressive disease. | COSMIC, NCBI Gene |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Brain (hippocampus) | 15.2 | Medium |
| Brain (amygdala) | 14.8 | Medium |
| Testis | 3.1 | Low |
| Kidney | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.4 | Neuronal model |
| HEK293 (embryonic kidney) | 2.1 | Low expression |
| A549 (lung carcinoma) | 0.9 | Very low |
| MCF7 (breast cancer) | 1.5 | Low |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.487C>T (p.Arg163*) | Nonsense | <0.1% | Loss of function; truncation of protein |
| c.1024G>A (p.Val342Met) | Missense | 0.2% | Unknown significance; reported in ClinVar |
| c.1256_1257del (p.Gln419Argfs*12) | Frameshift | <0.1% | Loss of function; predicted to cause NMD |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations in LSAMP lead to truncated or absent protein, consistent with tumor suppressor activity in neuroblastoma and renal cell carcinoma.
Gain of Function (GOF)
No gain-of-function mutations have been reported for LSAMP.
Dominant Negative (DN)
No dominant-negative mutations have been described for LSAMP.
View complete mutation data：
Gene Ontology (GO)
| • homophilic cell adhesion via plasma membrane adhesion molecules (GO:0007156) | • plasma membrane (GO:0005886) |
| • anchored component of membrane (GO:0031225) | • nervous system development (GO:0007399) |
| • chemical synaptic transmission (GO:0007268) |
Pathways
• Cell adhesion molecules (CAMs) – Homo sapiens (hsa04514)
• Neuroactive ligand-receptor interaction (hsa04080)
Protein Summary
LSAMP is a 338-amino acid GPI-anchored cell adhesion glycoprotein belonging to the IgLON family. It contains three immunoglobulin-like domains and mediates homophilic and heterophilic interactions with other IgLON members. The protein is highly expressed in the limbic system and modulates neurite outgrowth, synapse formation, and neuronal connectivity. Its downregulation in cancers suggests a tumor-suppressive role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| LSAMP Knockout HEK293 Cell Line | EDJ-KQ4372 | Human | 4045 | Details Get a Quote |
| LSAMP Knockout HeLa Cell Line | EDJ-KQ53806 | Human | 4045 | Details Get a Quote |
| LSAMP Knockout A-549 Cell Line | EDJ-KQ62287 | Human | 4045 | Details Get a Quote |
| LSAMP Knockout HCT 116 Cell Line | EDJ-KQ70768 | Human | 4045 | Details Get a Quote |
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