MTMR12: Myotubularin Related Protein 12
A Phosphatidylinositol 3-Phosphatase Regulator Involved in Endosomal Trafficking and Neuromuscular Function
Gene Information Card
| Symbol | MTMR12 |
|---|---|
| Full Name | Myotubularin Related Protein 12 |
| Gene Type | Protein coding |
| Chromosomal Location | 5p13.3 |
| NCBI Gene ID | 54545 ncbi.nlm.nih.gov/gene/54545 |
| Ensembl ID | ENSG00000164171 |
| UniProt ID | Q9C0I1 |
| OMIM ID | 611561 |
| HGNC ID | 25823 |
| Aliases | 3-PAP, PIP3AP, KIAA1682 |
Description
MTMR12 encodes a protein that functions as an adapter subunit of the phosphatidylinositol 3-phosphatase complex. It binds to the catalytic myotubularin phosphatase MTMR1 and MTMR2, targeting them to endosomal membranes and regulating phosphatidylinositol 3-phosphate levels. This gene is involved in endosomal trafficking, membrane dynamics, and neuromuscular junction maintenance. Mutations in MTMR12 are associated with autosomal recessive neuromuscular disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive neuromuscular disease | Loss-of-function mutations impair MTMR1/MTMR2 targeting, leading to abnormal endosomal phosphatidylinositol 3-phosphate accumulation and disrupted membrane trafficking in muscle and nerve cells. | ClinVar, OMIM |
| Charcot-Marie-Tooth disease (potential) | Disruption of myotubularin complex may affect Schwann cell-axon interaction and myelin maintenance. | NCBI Gene, UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 12.5 | Medium |
| Brain | 8.3 | Low |
| Heart | 7.1 | Low |
| Liver | 4.2 | Low |
| Kidney | 6.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 9.8 | Moderate expression |
| HEK293 | 7.5 | Low expression |
| SH-SY5Y | 11.2 | Moderate expression |
| C2C12 (myoblast) | 14.1 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop, loss of function |
| c.1555G>A (p.Gly519Arg) | Missense | Rare | Impaired protein interaction with MTMR1/MTMR2 |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or nonsense-mediated decay; missense mutations disrupting adapter function.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • phosphatidylinositol-3-phosphatase activity | • protein binding |
| • endosome membrane | • cytoplasm |
| • phosphatidylinositol dephosphorylation | • endosomal transport |
Pathways
• Myotubularin-related phosphatase complex
• Phosphatidylinositol phosphate metabolism
• Endosomal trafficking
Protein Summary
MTMR12 (3-PAP) is a 796-amino acid protein that acts as a regulatory subunit of the myotubularin phosphatase complex. It contains a PH-GRAM domain and a coiled-coil region that mediate membrane targeting and interaction with MTMR1/MTMR2. The protein is essential for proper endosomal phosphatidylinositol 3-phosphate turnover and is highly expressed in skeletal muscle and neuronal tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MTMR12 Knockout HEK293 Cell Line | EDJ-KQ11460 | Human | 54545 | Details Get a Quote |
| MTMR12 Knockout HCT 116 Cell Line | EDJ-KQ38421 | Human | 54545 | Details Get a Quote |
| MTMR12 Knockout A-549 Cell Line | EDJ-KQ39757 | Human | 54545 | Details Get a Quote |
| MTMR12 Knockout HeLa Cell Line | EDJ-KQ39759 | Human | 54545 | Details Get a Quote |
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