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Aliases for MTMR2 Gene

Aliases for MTMR2 Gene

  • Myotubularin Related Protein 2 2 3 5
  • Phosphatidylinositol-3,5-Bisphosphate 3-Phosphatase 3 4
  • Phosphatidylinositol-3-Phosphate Phosphatase 3 4
  • Phosphatidylinositol-3-Phosphatase 2 3
  • Phosphoinositide-3-Phosphatase 2 3
  • EC 63
  • EC 4
  • EC 4
  • EC 63
  • KIAA1073 4
  • EC 3.1.3 63
  • CMT4B1 3
  • CMT4B 3

External Ids for MTMR2 Gene

Previous HGNC Symbols for MTMR2 Gene

  • CMT4B

Previous GeneCards Identifiers for MTMR2 Gene

  • GC11M097896
  • GC11M097073
  • GC11M095750
  • GC11M095254
  • GC11M095205
  • GC11M095566
  • GC11M091631

Summaries for MTMR2 Gene

Entrez Gene Summary for MTMR2 Gene

  • 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]

GeneCards Summary for MTMR2 Gene

MTMR2 (Myotubularin Related Protein 2) is a Protein Coding gene. Diseases associated with MTMR2 include Charcot-Marie-Tooth Disease, Type 4B1 and Charcot-Marie-Tooth Neuropathy Type 4. Among its related pathways are Sertoli-Sertoli Cell Junction Dynamics and Metabolism. GO annotations related to this gene include protein homodimerization activity and protein tyrosine phosphatase activity. An important paralog of this gene is MTMR4.

UniProtKB/Swiss-Prot for MTMR2 Gene

  • Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate.

Gene Wiki entry for MTMR2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MTMR2 Gene

Genomics for MTMR2 Gene

Regulatory Elements for MTMR2 Gene

Enhancers for MTMR2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MTMR2 on UCSC Golden Path with GeneCards custom track

Promoters for MTMR2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MTMR2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MTMR2 Gene

95,832,880 bp from pter
95,925,315 bp from pter
92,436 bases
Minus strand

Genomic View for MTMR2 Gene

Genes around MTMR2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MTMR2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MTMR2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MTMR2 Gene

Proteins for MTMR2 Gene

  • Protein details for MTMR2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Myotubularin-related protein 2
    Protein Accession:
    Secondary Accessions:
    • A6NN98
    • Q9UPS9

    Protein attributes for MTMR2 Gene

    643 amino acids
    Molecular mass:
    73381 Da
    Quaternary structure:
    • Homooligomer and heterooligomer. Interacts with SBF1 and SBF2.
    • Sequence=BAA83025.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MTMR2 Gene

    Alternative splice isoforms for MTMR2 Gene


neXtProt entry for MTMR2 Gene

Proteomics data for MTMR2 Gene at MOPED

Post-translational modifications for MTMR2 Gene

  • Phosphorylation at Ser-58 decreases MTMR2 localization to endocytic vesicular structures.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MTMR2 Gene

Domains & Families for MTMR2 Gene

Gene Families for MTMR2 Gene

Suggested Antigen Peptide Sequences for MTMR2 Gene

Graphical View of Domain Structure for InterPro Entry



  • The coiled-coil domain mediates interaction with SBF2.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
  • The coiled-coil domain mediates interaction with SBF2.
  • Contains 1 GRAM domain.
  • Contains 1 myotubularin phosphatase domain.
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
genes like me logo Genes that share domains with MTMR2: view

Function for MTMR2 Gene

Molecular function for MTMR2 Gene

GENATLAS Biochemistry:
myotubularin related protein 2,ubiquitously expressed
UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 3-phosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol + phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Interaction with SBF1 increases phosphatase activity.
UniProtKB/Swiss-Prot Function:
Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate.

Enzyme Numbers (IUBMB) for MTMR2 Gene

Gene Ontology (GO) - Molecular Function for MTMR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042803 protein homodimerization activity IEA --
GO:0052866 phosphatidylinositol phosphate phosphatase activity IEA --
genes like me logo Genes that share ontologies with MTMR2: view
genes like me logo Genes that share phenotypes with MTMR2: view

Human Phenotype Ontology for MTMR2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MTMR2 Gene

MGI Knock Outs for MTMR2:

Animal Model Products

miRNA for MTMR2 Gene

miRTarBase miRNAs that target MTMR2

No data available for Transcription Factor Targets and HOMER Transcription for MTMR2 Gene

Localization for MTMR2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MTMR2 Gene

Cytoplasm. Early endosome membrane; Peripheral membrane protein. Note=Partly associated with membranes. {ECO:0000269 PubMed:12668758, ECO:0000269 PubMed:21372139, ECO:0000305}.

Subcellular locations from

Jensen Localization Image for MTMR2 Gene COMPARTMENTS Subcellular localization image for MTMR2 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
endosome 4
plasma membrane 3
vacuole 3
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for MTMR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12837694
GO:0005737 cytoplasm IDA 12837694
GO:0005774 vacuolar membrane IEA --
GO:0008021 synaptic vesicle ISS --
GO:0030425 dendrite ISS --
genes like me logo Genes that share ontologies with MTMR2: view

Pathways & Interactions for MTMR2 Gene

genes like me logo Genes that share pathways with MTMR2: view

Gene Ontology (GO) - Biological Process for MTMR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002091 negative regulation of receptor internalization ISS --
GO:0006470 protein dephosphorylation NAS 9736772
GO:0006644 phospholipid metabolic process TAS --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0032288 myelin assembly IEA --
genes like me logo Genes that share ontologies with MTMR2: view

No data available for SIGNOR curated interactions for MTMR2 Gene

Drugs & Compounds for MTMR2 Gene

(2) Drugs for MTMR2 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NAD Pharma Full agonist, Agonist 0

(10) Additional Compounds for MTMR2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Beta-D-Fructose 2-phosphate
  • beta-D-Fructofuranose 2-phosphate
  • beta-D-Fructose 2-phosphate
  • beta-D-Arabino-hexulose
  • beta-D-Fructofuranose
  • beta-D-Fructose
  • beta-delta-Arabino-hexulose
  • beta-delta-Fructofuranose
N-Acetyl-D-mannosamine 6-phosphate
  • ManNAc-6-P
  • N-Acetyl-D-mannosamine 6-phosphate
  • N-Acetyl-D-mannosamine-6-P
  • N-Acetyl-D-mannosamine-6-phosphate
  • N-Acetylmannosamine-6-P
  • 2-Acetamido-2-deoxy-D-mannopyranose
  • 2-Acetamido-2-deoxy-D-mannose
  • ManNAc
  • N-Acetyl-D-mannosamine
  • N-Acetylmannosamine
  • Adenine-nicotinamide dinucleotide phosphate
  • b-NADP
  • b-Nicotinamide adenine dinucleotide phosphate
  • b-TPN
  • beta-NADP
genes like me logo Genes that share compounds with MTMR2: view

Transcripts for MTMR2 Gene

Unigene Clusters for MTMR2 Gene

Myotubularin related protein 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MTMR2 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13
SP2: - -

Relevant External Links for MTMR2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for MTMR2 Gene

mRNA expression in normal human tissues for MTMR2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MTMR2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (10.3), Fetal Brain (10.1), Testis (10.0), and Brain (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MTMR2 Gene

SOURCE GeneReport for Unigene cluster for MTMR2 Gene Hs.181326

genes like me logo Genes that share expression patterns with MTMR2: view

Protein tissue co-expression partners for MTMR2 Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for MTMR2 Gene

Orthologs for MTMR2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MTMR2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia MTMR2 35
  • 92.59 (n)
  • 98.29 (a)
MTMR2 36
  • 98 (a)
(Canis familiaris)
Mammalia MTMR2 35
  • 93.73 (n)
  • 98.44 (a)
MTMR2 36
  • 98 (a)
(Mus musculus)
Mammalia Mtmr2 35
  • 90.72 (n)
  • 97.36 (a)
Mtmr2 16
Mtmr2 36
  • 97 (a)
(Pan troglodytes)
Mammalia MTMR2 35
  • 99.9 (n)
  • 100 (a)
MTMR2 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Mtmr2 35
  • 89.89 (n)
  • 96.89 (a)
(Monodelphis domestica)
Mammalia MTMR2 36
  • 97 (a)
(Ornithorhynchus anatinus)
Mammalia MTMR2 36
  • 94 (a)
(Gallus gallus)
Aves MTMR2 35
  • 81.73 (n)
  • 96.15 (a)
MTMR2 36
  • 81 (a)
(Anolis carolinensis)
Reptilia MTMR2 36
  • 93 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr2 35
  • 72.81 (n)
  • 80.88 (a)
(Danio rerio)
Actinopterygii mtmr2 35
  • 70.25 (n)
  • 78.31 (a)
mtmr2 36
  • 75 (a)
fruit fly
(Drosophila melanogaster)
Insecta myotubularin 37
  • 60 (a)
mtm 35
  • 57.03 (n)
  • 58.86 (a)
mtm 36
  • 57 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009563 35
  • 56.9 (n)
  • 62.5 (a)
(Caenorhabditis elegans)
Secernentea T24A11.1a 37
  • 37 (a)
T24A11.1b 37
  • 37 (a)
Y110A7A.5 37
  • 45 (a)
mtm-1 36
  • 43 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G04540 35
  • 47.8 (n)
  • 40.63 (a)
(Oryza sativa)
Liliopsida Os.18764 35
Os08g0556700 35
  • 52.47 (n)
  • 44.54 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5340 36
  • 61 (a)
Species with no ortholog for MTMR2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MTMR2 Gene

Gene Tree for MTMR2 (if available)
Gene Tree for MTMR2 (if available)

Paralogs for MTMR2 Gene

Paralogs for MTMR2 Gene

(10) SIMAP similar genes for MTMR2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MTMR2: view

Variants for MTMR2 Gene

Sequence variations from dbSNP and Humsavar for MTMR2 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs3824874 - 95,923,947(+) AGCTC(C/G/T)TCTCC upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs558018 - 95,836,284(-) CATAA(A/G)CAGCC reference, missense
VAR_047947 Charcot-Marie-Tooth disease 4B1 (CMT4B1)
rs518919 -- 95,890,149(+) ACATA(C/G)TATTT intron-variant
rs519760 -- 95,883,664(-) ATATT(G/T)GTATT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MTMR2 Gene

Variant ID Type Subtype PubMed ID
nsv832235 CNV Gain 17160897
esv269241 CNV Insertion 20981092

Variation tolerance for MTMR2 Gene

Residual Variation Intolerance Score: 64.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.58; 82.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MTMR2 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MTMR2 Gene

Disorders for MTMR2 Gene

MalaCards: The human disease database

(10) MalaCards diseases for MTMR2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 4b1
  • charcot-marie-tooth disease type 4b1
charcot-marie-tooth neuropathy type 4
  • dejerine-sottas disease
charcot-marie-tooth disease
  • dejerine-sottas disease
tooth disease
  • dental disorder
sensory peripheral neuropathy
  • peripheral sensory neuropathy
- elite association - COSMIC cancer census association via MalaCards
Search MTMR2 in MalaCards View complete list of genes associated with diseases


  • Charcot-Marie-Tooth disease 4B1 (CMT4B1) [MIM:601382]: A recessive demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4. {ECO:0000269 PubMed:10802647, ECO:0000269 PubMed:12398840}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for MTMR2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with MTMR2: view

No data available for Genatlas for MTMR2 Gene

Publications for MTMR2 Gene

  1. A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths. (PMID: 12398840) Nelis E. … Topaloglu H. (Neuromuscul. Disord. 2002) 3 4 23 48 67
  2. The phosphoinositide 3-phosphatase MTMR2 interacts with PSD-95 and maintains excitatory synapses by modulating endosomal traffic. (PMID: 20410104) Lee H.W. … Kim E. (J. Neurosci. 2010) 3 23
  3. Endosomal phosphoinositides and human diseases. (PMID: 18429927) Nicot A.S. … Laporte J. (Traffic 2008) 3 23
  4. Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells. (PMID: 17336078) Chojnowski A. … LeGuern E. (Neurobiol. Dis. 2007) 3 23
  5. Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases. (PMID: 17880751) Previtali S.C. … Bolino A. (Expert Rev Mol Med 2007) 3 23

Products for MTMR2 Gene

Sources for MTMR2 Gene