MTMR2 Chromosome 11
Myotubularin related protein 2
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What This Gene Does
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 Info
Gene Group
"Myotubularins|Phosphoinositide phosphatases"
Locus Type
gene with protein product
Location
11q21
Ensembl
ENSG00000087053
Associated Conditions (5)
Charcot-Marie-Tooth disease type 4
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth disease type 4B1
MTMR2-related disorder
Inborn genetic diseases
Key Variants
RS116750638
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B1
Health Risk
RS138746296
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS139369561
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Inborn genetic diseases
Health Risk
RS142155860
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4
Health Risk
RS146572467
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease
Health Risk
RS149476960
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4B1
Health Risk
RS1555056865
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
Health Risk
RS1590997541
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1
Health Risk
RS200083635
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4
Health Risk
RS200285624
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, MTMR2-related disorder
Health Risk
RS371105248
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
Health Risk
RS371925152
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease
Health Risk
All Variants (62)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2496483164 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4B1 |
| RS2496499778 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2496500008 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2496561076 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS2496570033 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4 |
| RS751677491 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS757563721 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS758637255 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS776757548 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4B1, Inborn genetic diseases, Charcot-Marie-Tooth disease type 4 |
| RS863224516 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS1177373744 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4 |
| RS769429967 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 4B1, Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B1 |