MTMR2
Sign in to saveAlso known as CMT4B, CMT4B1, myotubularin related protein 2
Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene.
Gene data
MTMR2- Name
- myotubularin related protein 2
- Type
- protein-coding
- Position
- 95,821,766–95,925,315 (−)
- Aliases
- CMT4B, CMT4B1
- Ensembl
- ENSG00000087053
- RefSeq RNA
- NM_001243571.2, NM_001440630.1, NM_001440631.1, NM_001440632.1, NM_001440633.1
- RefSeq protein
- NP_001230500.1, NP_001427559.1, NP_001427560.1, NP_001427561.1, NP_001427562.1
This gene is a member of the myotubularin family of phosphoinositide lipid phosphatases. The encoded protein possesses phosphatase activity towards phosphatidylinositol-3-phosphate and phosphatidylinositol-3,5-bisphosphate. Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Aug 2011].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
myotubularin related protein 2
- Symbol
- MTMR2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 11:95,821,766-95,925,315
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
~1 min read
Encyclopedic overview
5 sectionsContents
- Function
- Interactions
- References
- Further reading
- External links
Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene.
== Function ==
Excerpted from Wikipedia’s “MTMR2” article, available under the CC BY-SA 4.0 licence.