MTMR2

Chr 11q21

myotubularin related protein 2

Aliases:: KIAA1073
MANE:: ENST00000346299.10

OMIM: 603557 ↗NCBI: 8898 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

MTMR2 · Q13614

v62025-08-01

Predicted Aligned Error matrix for MTMR2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.4/ 100

Confident

643 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)5%
Low(50–70)3%
Very low(< 50)12%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Hereditary neuropathy
BIALLELIC, autosomal or pseudoautosomal
Hereditary neuropathy or pain disorder
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Charcot-Marie-Tooth disease type 4B1
0.76
Charcot-Marie-Tooth disease type 4
0.55
hereditary disease
0.50
demyelinating hereditary motor and sensory neuropathy
0.37
Abnormality of the skeletal system
0.37
substance-related disorder
0.36
smoking initiation
0.32
ovarian dysfunction
0.29
Nephropathy
0.29
nephritis
0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR2

Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate (PubMed:11733541, PubMed:12668758, PubMed:14690594, PubMed:21372139). Regulates the level of these phosphoinositides critical for various biological processes including autophagy initiation and autophagosome maturation (PubMed:35580604)