MTMR14

Chr 3p25.3

myotubularin related protein 14

Aliases:: FLJ22405, FLJ90311, hJumpy, hEDTP
MANE:: ENST00000296003.9

OMIM: 611089 ↗NCBI: 64419 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MTMR14 · Q8NCE2

v62025-08-01

Predicted Aligned Error matrix for MTMR14 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.0/ 100

Low

650 residues

Confidence breakdown

Very high(≥ 90)45%
Confident(70–90)10%
Low(50–70)6%
Very low(< 50)39%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Congenital myopathy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P

Disease associations (Open Targets)

neurodegenerative disease
0.48
Alzheimer disease
0.46
Parkinson disease
0.46
lysosomal storage disease
0.46
multiple sclerosis
0.46
autosomal dominant centronuclear myopathy
0.45
autoimmune disorder of central nervous system
0.31
placental abruption
0.23
crush injury
0.18
liver disorder
0.18

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

Protein function (UniProt)

Phosphatidylinositol-3,5-bisphosphate 3-phosphatase MTMR14

Lipid phosphatase that specifically dephosphorylates the D-3 position of phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate, generating phosphatidylinositol and phosphatidylinositol 5-phosphate