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Tbio
MTMR2
Myotubularin-related protein 2

Protein Summary
Description
Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000346299
  • ENSP00000345752
  • ENSG00000087053
  • ENST00000352297
  • ENSP00000343737
  • ENST00000393223
  • ENSP00000376915
  • ENST00000409459
  • ENSP00000386882

Symbol
  • KIAA1073
  • CMT4B
  • CMT4B1
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
biological process
0.89
histone modification site profile
0.86
protein domain
0.85
kinase perturbation
0.81
transcription factor binding site profile
0.81


Related Tools
Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
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: 63.95   (req: < 5)
Gene RIFs: 20   (req: <= 3)
Antibodies: 216   (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: 63.95   (req: >= 5)
Gene RIFs: 20   (req: > 3)
Antibodies: 216   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 20
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
GWAS Traits (2)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
red blood cell distribution width
1
1
1
43
worry measurement
1
1
0
5.6
15.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
red blood cell distribution width
1
43
worry measurement
0
5.6
15.3
Orthologs (13)
1 – 5 of 13
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
myotubularin related protein 2
VGNC:3103
451498
Macaque
myotubularin related protein 2
699703
Mouse
MGI:1924366
77116
Rat
RGD:1311865
315422
Dog
myotubularin related protein 2
VGNC:43483
606918
Species
Name
OMA
EggNOG
Inparanoid
Chimp
myotubularin related protein 2
Macaque
myotubularin related protein 2
Mouse
Rat
Dog
myotubularin related protein 2
Protein Structure (5 Structures, 1 AlphaFold Model)
RepresentationColor Scheme

Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB

AF-Q13614-F1-model_v1

AlphaFold Structures Developed by DeepMind and EMBL-EBI

1 – 5 of 5
PDB Structure Id
Ligand
Method
Resolution (Å)
Residues
Fraction of Total Protein
Pub Year
Title
PDB Structure Id
Fraction of Total Protein
Resolution
Pub Year
Pathways (12)
Metabolism (R-HSA-1430728)

Click on a row in the table to change the structure displayed.

Items per page:
1 – 5 of 8
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Metabolism
Reactome
Metabolism of lipids
Reactome
PI Metabolism
Reactome
Phospholipid metabolism
Reactome
Synthesis of PIPs at the ER membrane
Name
Explore in Pharos
Explore in Source
Metabolism
Metabolism of lipids
PI Metabolism
Phospholipid metabolism
Synthesis of PIPs at the ER membrane
Gene Ontology Terms (33)
Items per page:
10
1 – 5 of 5
GO Term
Evidence
Assigned by
Inferred from Direct Assay (IDA)
UniProtKB
Inferred from Direct Assay (IDA)
UniProtKB
Non-traceable Author Statement (NAS)
UniProtKB
Inferred from Electronic Annotation (IEA)
Ensembl
Inferred from Electronic Annotation (IEA)
InterPro
Protein-Protein Interactions (95)
1 – 10 of 95
CCDC22
Tbio
Novelty: 0.01400901
p_int: 0.999999998
p_wrong: 2e-9
Score: 0.193
Data Source: BioPlex,STRINGDB
MTMR9
Tbio
Novelty: 0.09702778
p_int: 0.999999948
p_ni: 5.2e-8
Score: 0.223
Data Source: BioPlex,STRINGDB
MTRF1
Tbio
Family: Enzyme
Novelty: 0.11037387
p_int: 0.999998681
p_ni: 0.000001316
p_wrong: 3e-9
Data Source: BioPlex
SBF1
Tbio
Novelty: 0.01814482
Score: 0.965
Data Source: Reactome,STRINGDB
PIKFYVE
Tchem
Family: Kinase
Novelty: 0.00441336
Score: 0.965
Data Source: STRINGDB
SBF2
Tbio
Novelty: 0.02647873
Score: 0.958
Data Source: Reactome,STRINGDB
MTMR12
Tbio
Novelty: 0.11861954
Score: 0.951
Data Source: Reactome,STRINGDB
NEFL
Tbio
Novelty: 0.00049255
Score: 0.942
Data Source: STRINGDB
MTMR10
Tdark
Novelty: 0.24626422
Score: 0.927
Data Source: Reactome,STRINGDB
CDIPT
Tbio
Family: Enzyme
Novelty: 0.00560887
Score: 0.902
Data Source: STRINGDB
Publication Statistics
PubMed Score  63.95

PubMed score by year
PubTator Score  51.07

PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
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