MAP6: Microtubule-Associated Protein 6
A key regulator of microtubule stability in neurons, implicated in neurodevelopmental and psychiatric disorders.
Gene Information Card
| Symbol | MAP6 |
|---|---|
| Full Name | Microtubule-Associated Protein 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.4 |
| NCBI Gene ID | 4135 ncbi.nlm.nih.gov/gene/4135 |
| Ensembl ID | ENSG00000171533 |
| UniProt ID | Q96JE9 |
| OMIM ID | 601783 |
| HGNC ID | 6870 |
| Aliases | STOP, MTAP6, STOP protein |
Description
MAP6 (Microtubule-Associated Protein 6) encodes the STOP (Stable Tubule Only Polypeptide) protein, which binds to microtubules and stabilizes them against cold- and drug-induced depolymerization. It is predominantly expressed in neurons and is essential for neuronal architecture, synaptic plasticity, and neurotransmitter release. MAP6 dysfunction is linked to schizophrenia, bipolar disorder, and other neuropsychiatric conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | MAP6 deficiency leads to synaptic and microtubule instability, impairing neurotransmission and neuronal connectivity. | ClinVar, OMIM |
| Bipolar Disorder | Altered MAP6 expression affects microtubule dynamics and synaptic function, contributing to mood dysregulation. | ClinVar, OMIM |
| Autism Spectrum Disorder | Rare MAP6 variants may disrupt neuronal development and synaptic stability. | ClinVar |
| Major Depressive Disorder | Reduced MAP6 levels correlate with impaired neuroplasticity and stress response. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 32.5 | High |
| Brain (cerebellum) | 28.1 | High |
| Testis | 6.2 | Medium |
| Spinal cord | 5.8 | Medium |
| Heart | 1.3 | Low |
| Liver | 0.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 18.7 | Neuronal model |
| U-87 MG (glioblastoma) | 12.4 | Glial model |
| HEK 293 (embryonic kidney) | 2.1 | Low expression |
| HeLa (cervical carcinoma) | 1.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1123C>T (p.Arg375Trp) | Missense | 0.001% | Altered microtubule binding affinity |
| c.1456_1457del (p.Lys486Glufs*13) | Frameshift | <0.001% | Loss of function, truncated protein |
| c.789G>A (p.Trp263*) | Nonsense | <0.001% | Premature stop, loss of function |
| c.2014A>G (p.Thr672Ala) | Missense | 0.002% | Unknown effect, rare variant |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations (e.g., p.Lys486Glufs*13, p.Trp263*) lead to truncated or absent STOP protein, impairing microtubule stabilization.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in MAP6.
Dominant Negative (DN)
Missense variants like p.Arg375Trp may interfere with wild-type STOP function, but dominant-negative effects are not well established.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Microtubule stabilization pathway
• Axon guidance
• Synaptic vesicle cycle
Protein Summary
The MAP6 protein (STOP) is a 957-amino acid microtubule-associated protein that stabilizes microtubules by binding along their lattice, protecting them from depolymerization. It is enriched in neurons and localizes to dendrites, axons, and synapses. STOP interacts with calmodulin and is regulated by phosphorylation. Its absence leads to synaptic dysfunction and behavioral abnormalities in animal models.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MAP6 Knockout HEK293 Cell Line | EDJ-KQ4404 | Human | 4135 | Details Get a Quote |
| MAP6D1 Knockout HEK293 Cell Line | EDJ-KQ14196 | Human | 79929 | Details Get a Quote |
| MAP6 Knockout A-549 Cell Line | EDJ-KQ28163 | Human | 4135 | Details Get a Quote |
| MAP6D1 Knockout HCT 116 Cell Line | EDJ-KQ44142 | Human | 79929 | Details Get a Quote |
| MAP6 Knockout HeLa Cell Line | EDJ-KQ53839 | Human | 4135 | Details Get a Quote |
| MAP6D1 Knockout HeLa Cell Line | EDJ-KQ57257 | Human | 79929 | Details Get a Quote |
| MAP6D1 Knockout A-549 Cell Line | EDJ-KQ65769 | Human | 79929 | Details Get a Quote |
| MAP6 Knockout HCT 116 Cell Line | EDJ-KQ70800 | Human | 4135 | Details Get a Quote |
