GPM6A
Glycoprotein M6A: A Neuronal Membrane Protein Implicated in Neurodevelopment and Psychiatric Disorders
Gene Information Card
| Symbol | GPM6A |
|---|---|
| Full Name | glycoprotein M6A |
| Gene Type | protein-coding |
| Chromosomal Location | 4q34.1 |
| NCBI Gene ID | 2823 ncbi.nlm.nih.gov/gene/2823 |
| Ensembl ID | ENSG00000150625 |
| UniProt ID | P51674 |
| OMIM ID | 604964 |
| HGNC ID | 4462 |
| Aliases | M6A, M6A1, GPM6 |
Description
GPM6A encodes glycoprotein M6A, a transmembrane protein belonging to the proteolipid protein family. It is predominantly expressed in the central nervous system and plays a critical role in neuronal differentiation, neurite outgrowth, filopodium formation, and synaptogenesis. GPM6A is also involved in calcium-dependent exocytosis and may influence neurotransmitter release. Alterations in GPM6A expression and sequence have been linked to neuropsychiatric conditions including schizophrenia, bipolar disorder, and autism spectrum disorder.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered GPM6A expression may disrupt neuronal connectivity and synaptic function, contributing to disease pathology. | Association studies and postmortem brain analyses show differential expression in patients. |
| Bipolar Disorder | Variants in GPM6A may affect neurodevelopment and mood regulation pathways. | Genetic association studies have identified risk haplotypes. |
| Autism Spectrum Disorder | GPM6A mutations could impair neurite outgrowth and synaptic plasticity. | Rare variants reported in ASD cohorts. |
| Major Depressive Disorder | Dysregulation of GPM6A in limbic regions may influence stress response and neuroplasticity. | Expression changes observed in animal models and human brain tissue. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 28.2 | High |
| Cerebral cortex | 32.5 | High |
| Hippocampus | 35.1 | High |
| Cerebellum | 22.0 | Medium |
| Spinal cord | 18.4 | Medium |
| Testis | 5.3 | Low |
| Heart | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.8 | Neuronal cell line; high expression |
| U-87 MG | 8.4 | Glioblastoma cell line; moderate expression |
| HEK293 | 2.1 | Low expression |
| HepG2 | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287C>T (p.Pro96Leu) | Missense | <0.01% | Unknown functional impact; rare population variant |
| c.454G>A (p.Glu152Lys) | Missense | <0.01% | Predicted damaging; associated with neurodevelopmental phenotypes |
| c.631_633del (p.Phe211del) | In-frame deletion | <0.01% | May affect protein stability; reported in ASD |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
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)
| • plasma membrane (GO:0005886) | • integral component of plasma membrane (GO:0005887) |
| • nervous system development (GO:0007399) | • neuron projection development (GO:0031175) |
| • neuron projection (GO:0043005) | • synapse (GO:0045202) |
| • excitatory synapse (GO:0060076) | • chemical synaptic transmission (GO:0007268) |
| • glutamate secretion (GO:0014047) | • secretory granule (GO:0030141) |
Pathways
• Neuronal System (REACT_13685)
• Developmental Biology (REACT_111102)
• Transmission across Chemical Synapses (REACT_147969)
Protein Summary
Glycoprotein M6A is a 278-amino-acid transmembrane protein with four hydrophobic domains, belonging to the proteolipid protein family. It is highly expressed in neurons, particularly in the hippocampus and cerebral cortex. The protein localizes to the plasma membrane and is enriched in lipid rafts. GPM6A promotes filopodium formation and neurite outgrowth through interactions with the cytoskeleton and is involved in calcium-dependent exocytosis of synaptic vesicles. Post-translational modifications include N-glycosylation and palmitoylation, which are essential for its membrane targeting and function.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPM6A Knockout HEK293 Cell Line | EDJ-KQ4758 | Human | 2823 | Details Get a Quote |
| GPM6A Knockout HCT 116 Cell Line | EDJ-KQ26290 | Human | 2823 | Details Get a Quote |
| GPM6A Knockout HeLa Cell Line | EDJ-KQ27522 | Human | 2823 | Details Get a Quote |
| GPM6A Knockout A-549 Cell Line | EDJ-KQ61858 | Human | 2823 | Details Get a Quote |
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