Mtmr2 - myotubularin related protein 2 Gene
Also Known as 6030445P13Rik
Species: Mus musculus
Summary
Enables identical protein binding activity and phosphatidylinositol phosphate Phosphatase activity. Acts upstream of or within dephosphorylation; negative regulation of myelination; and nervous system development. Located in vacuolar membrane. Is expressed in several structures, including eye; genitourinary system; gut; immune system; and nervous system. Used to study Charcot-Marie-Tooth disease type 4B1. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B1. Orthologous to human MTMR2 (myotubularin related protein 2). [provided by Alliance of Genome Resources, Apr 2022]
Mtmr2 Products (8)
| mRNA | Protein | Name |
|---|---|---|
| NM_001372573.1 | NP_001359502.1 | myotubularin-related protein 2 isoform 2 |
| NM_001373873.1 | NP_001360802.1 | myotubularin-related protein 2 isoform 3 |
| NM_001373874.1 | NP_001360803.1 | myotubularin-related protein 2 isoform 4 |
| NM_001373875.1 | NP_001360804.1 | myotubularin-related protein 2 isoform 2 |
| NM_001373876.1 | NP_001360805.1 | myotubularin-related protein 2 isoform 2 |
| NM_001373877.1 | NP_001360806.1 | myotubularin-related protein 2 isoform 2 |
| NM_001373878.1 | NP_001360807.1 | myotubularin-related protein 2 isoform 2 |
| NM_023858.4 | NP_076347.3 | myotubularin-related protein 2 isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
16399794 | MGI |
| enables phosphatidylinositol phosphate phosphatase activity |
IMP
IMP: Inferred from mutant phenotype
|
22028665 | MGI |
| enables phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity |
IDA
IDA: Inferred from direct assay
|
12045210 | MGI |
| enables phosphatidylinositol-3-phosphate phosphatase activity |
IDA
IDA: Inferred from direct assay
|
12045210 | MGI |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
16399794 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
12837694 | MGI |
| located in vacuolar membrane |
IDA
IDA: Inferred from direct assay
|
16399794 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
myotubularin-related protein 2 |
|