Tbio MTMR14 Myotubularin-related protein 14

Protein Summary

Description

Lipid phosphatase which efficiently dephosphorylates phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns(3,5)P2; inactive toward PtdIns4P, PtdIns(3,4)P2, PtdIns(4,5)P2 and PtdIns(3,4,5)P3. This gene encodes a myotubularin-related protein. The encoded protein is a phosphoinositide phosphatase that specifically dephosphorylates phosphatidylinositol 3,5-biphosphate and phosphatidylinositol 3-phosphate. Mutations in this gene are correlated with autosomal dominant centronuclear myopathy. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 18.[provided by RefSeq, Apr 2010]

Uniprot Accession IDs

• Q8NCE2
• Q0JTH5
• Q0JU83
• Q6PIZ4
• Q6QE21
• Q86VK9
• Q8IYK1
• Q8TCM7
• Q9H6C0

Gene Name

• MTMR14

Ensembl ID

• ENST00000296003
• ENSP00000296003
• ENSG00000163719
• ENST00000351233
• ENSP00000334070
• ENST00000353332
• ENSP00000323462

Symbol

• C3orf29
• C3orf29

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
transcription factor binding site profile	0.71
histone modification site profile	0.7
tissue sample	0.69
transcription factor perturbation	0.68
cell type or tissue	0.63

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 17.72   (req: < 5)

Gene RIFs: 7   (req: <= 3)

Antibodies: 224   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 17.72   (req: >= 5)

Gene RIFs: 7   (req: > 3)

Antibodies: 224   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 6

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0