GPM6B
Glycoprotein M6B: A neuronal transmembrane protein involved in myelination and neurodevelopment
Gene Information Card
| Symbol | GPM6B |
|---|---|
| Full Name | glycoprotein M6B |
| Gene Type | protein-coding |
| Chromosomal Location | Xp22.2 |
| NCBI Gene ID | 2824 ncbi.nlm.nih.gov/gene/2824 |
| Ensembl ID | ENSG00000146670 |
| UniProt ID | Q13491 |
| OMIM ID | 300051 |
| HGNC ID | 4467 |
| Aliases | M6B, GPM6B1, GPM6B2 |
Description
GPM6B encodes glycoprotein M6B, a member of the proteolipid protein family. It is a transmembrane protein predominantly expressed in the central nervous system, where it plays a critical role in neuronal differentiation, myelination, and cell adhesion. The protein is involved in filopodium formation and neurite outgrowth, and its dysregulation has been linked to neurodevelopmental disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Intellectual disability, X-linked | Loss-of-function mutations in GPM6B impair neuronal development and synaptic plasticity | ClinVar, OMIM |
| Schizophrenia | Altered GPM6B expression may affect myelination and synaptic connectivity | NCBI, OMIM |
| Glioma | Overexpression of GPM6B in glioblastoma correlates with poor prognosis and tumor progression | COSMIC, NCBI |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Spinal cord | 8.3 | Medium |
| Testis | 2.1 | Low |
| Heart | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| U-87 MG (glioblastoma) | 10.8 | Moderate expression |
| HEK 293 (embryonic kidney) | 0.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.202C>T (p.Arg68Trp) | Missense | <0.01% | Loss of function; associated with intellectual disability |
| c.455G>A (p.Arg152Gln) | Missense | <0.01% | Unknown significance; reported in ClinVar |
| c.1A>G (p.Met1Val) | Start loss | <0.01% | Loss of function; likely pathogenic |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that disrupt protein expression or function, associated with X-linked intellectual disability.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • plasma membrane (GO:0005886) | • nervous system development (GO:0007399) |
| • neuron projection development (GO:0031175) | • cell adhesion (GO:0007155) |
| • myelination (GO:0042552) |
Pathways
• Myelination pathway (Reactome: R-HSA-9616222)
• Neuronal system (Reactome: R-HSA-112316)
Protein Summary
Glycoprotein M6B is a 278-amino-acid transmembrane protein with four transmembrane domains. It is highly expressed in the brain and spinal cord, where it localizes to the plasma membrane and promotes filopodium formation and neurite outgrowth. The protein undergoes N-glycosylation and interacts with cytoskeletal components to regulate cell morphology and adhesion. Its role in myelination is critical for proper nerve conduction.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GPM6B Knockout HEK293 Cell Line | EDJ-KQ4750 | Human | 2824 | Details Get a Quote |
| GPM6B Knockout HCT 116 Cell Line | EDJ-KQ27506 | Human | 2824 | Details Get a Quote |
| GPM6B Knockout HeLa Cell Line | EDJ-KQ27507 | Human | 2824 | Details Get a Quote |
| GPM6B Knockout A-549 Cell Line | EDJ-KQ61859 | Human | 2824 | Details Get a Quote |
