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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
  • Myotubularin-Related Protein 2 3
  • EC 58
  • EC 4
  • EC 4
  • EC 58
  • KIAA1073 4
  • EC 3.1.3 58
  • 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 Neuropathy, Congenital Hypomyelinating. Among its related pathways are Metabolism and Inositol phosphate metabolism (KEGG). GO annotations related to this gene include protein homodimerization activity and protein tyrosine phosphatase activity. An important paralog of this gene is MTMR1.

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

Additional gene information for MTMR2 Gene

No data available for CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH11H095922 1.4 ENCODE dbSUPER 11 +1.2 1162 3 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 CEP57 FAM76B FGFR3P2 MTMR2 GC11M095916
GH11H095788 1.4 ENCODE dbSUPER 9.6 +134.9 134899 4 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 YY1 ZNF143 ZNF207 CEP57 FAM76B FGFR3P2 MAML2 JRKL LOC101929295 MTMR2 GC11M095802
GH11H095876 1.1 FANTOM5 ENCODE dbSUPER 8.8 +47.7 47746 2 JUND POLR2A FOS ATF2 CEP57 MTMR2 GC11M095879 RNA5SP345
GH11H095795 0.9 ENCODE dbSUPER 9.9 +129.5 129464 0 FOXA2 MAX REST ZNF384 FOXA1 GABPA YY1 JUND ATF3 HNF4G LOC101929295 MTMR2 FAM76B GC11M095802
GH11H096226 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.1 -304.2 -304186 5 NFIA JUN CEBPB MAX RAD21 ZNF644 YY1 TEAD3 JUND POLR2A MAML2 MTMR2 FAM76B JRKL CCDC82 GC11P096202 GC11M096338
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000043677 1315 2401 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766

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

Selected DME Specific Peptides for MTMR2 Gene


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

Domains & Families for MTMR2 Gene

Gene Families for MTMR2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

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.
  • 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

Phenotypes From GWAS Catalog for MTMR2 Gene

Gene Ontology (GO) - Molecular Function for MTMR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004438 phosphatidylinositol-3-phosphatase activity IEA,TAS --
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005515 protein binding IPI 12837694
GO:0008138 protein tyrosine/serine/threonine phosphatase activity NAS 9736772
GO:0016787 hydrolase 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

CRISPR Products

miRNA for MTMR2 Gene

miRTarBase miRNAs that target MTMR2

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MTMR2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MTMR2 gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 5
endosome 4
plasma membrane 3
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MTMR2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 12837694
GO:0005737 cytoplasm IEA,IDA 12837694
GO:0005768 endosome IEA --
GO:0005774 vacuolar membrane IEA --
GO:0005829 cytosol TAS,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:0006629 lipid metabolic process IEA --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0016311 dephosphorylation 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
N-acetylmannosamine Investigational Pharma 0
NAD Pharma Full agonist, Agonist 0

(7) 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
  • 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for MTMR2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MTMR2 Gene

Protein tissue co-expression partners for MTMR2 Gene

NURSA nuclear receptor signaling pathways regulating expression of MTMR2 Gene:


SOURCE GeneReport for Unigene cluster for MTMR2 Gene:


Evidence on tissue expression from TISSUES for MTMR2 Gene

  • Nervous system(4.9)
  • Liver(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MTMR2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • face
  • head
  • lung
  • rib
  • rib cage
  • pelvis
  • arm
  • foot
  • forearm
  • hand
  • lower limb
  • shin
  • thigh
  • upper limb
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with MTMR2: view

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
(Pan troglodytes)
Mammalia MTMR2 33 34
  • 99.9 (n)
(Monodelphis domestica)
Mammalia MTMR2 34
  • 97 (a)
(Ornithorhynchus anatinus)
Mammalia MTMR2 34
  • 94 (a)
(Canis familiaris)
Mammalia MTMR2 33 34
  • 93.73 (n)
(Bos Taurus)
Mammalia MTMR2 33 34
  • 92.59 (n)
(Mus musculus)
Mammalia Mtmr2 33 16 34
  • 90.72 (n)
(Rattus norvegicus)
Mammalia Mtmr2 33
  • 89.89 (n)
(Gallus gallus)
Aves MTMR2 33 34
  • 81.73 (n)
(Anolis carolinensis)
Reptilia MTMR2 34
  • 93 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr2 33
  • 72.81 (n)
(Danio rerio)
Actinopterygii mtmr2 33 34
  • 70.25 (n)
fruit fly
(Drosophila melanogaster)
Insecta myotubularin 35
  • 60 (a)
mtm 33 34
  • 57.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009563 33
  • 56.9 (n)
(Caenorhabditis elegans)
Secernentea Y110A7A.5 35
  • 45 (a)
mtm-1 34
  • 43 (a)
T24A11.1a 35
  • 37 (a)
T24A11.1b 35
  • 37 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G04540 33
  • 47.8 (n)
(Oryza sativa)
Liliopsida Os08g0556700 33
  • 52.47 (n)
Os.18764 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5340 34
  • 61 (a)
Species where no ortholog for MTMR2 was found in the sources mined by GeneCards:
  • 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
VAR_047947 Charcot-Marie-Tooth disease 4B1 (CMT4B1) [MIM:601382]
rs121434402 Pathogenic 95,845,063(-) CAGCT(C/T)AGCTC reference, stop-gained
rs121434403 Pathogenic 95,849,841(-) ATCCT(G/T)AAAGT reference, stop-gained
rs121434404 Pathogenic 95,841,652(-) TTCTT(C/T)AATTT reference, stop-gained
rs757563721 Pathogenic 95,849,835(+) GGCTT(A/G/T)ACTTT reference, missense

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

Variant ID Type Subtype PubMed ID
esv3304963 CNV mobile element insertion 20981092
esv3383269 CNV insertion 20981092
esv3579857 CNV loss 25503493
esv3627359 CNV loss 21293372
nsv832235 CNV gain 17160897

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)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for MTMR2 Gene

MalaCards: The human disease database

(21) MalaCards diseases for MTMR2 Gene - From: HGMD, 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
neuropathy, congenital hypomyelinating
  • dejerine-sottas disease
congenital hypomyelination neuropathy
  • charcot-marie-tooth disease type 4e
early-onset glaucoma
  • hereditary glaucoma
charcot-marie-tooth disease
  • charcot marie tooth muscular atrophy
- 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 (Neuromuscular disorders : NMD 2002) 3 4 22 45 60
  2. Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase. (PMID: 16410353) Begley MJ … Dixon JE (Proceedings of the National Academy of Sciences of the United States of America 2006) 3 4 22 60
  3. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. (PMID: 15998640) Robinson FL … Dixon JE (The Journal of biological chemistry 2005) 3 4 22 60
  4. Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome. (PMID: 14690594) Begley MJ … Stuckey JA (Molecular cell 2003) 3 4 22 60
  5. Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. (PMID: 12668758) Kim SA … Dixon JE (Proceedings of the National Academy of Sciences of the United States of America 2003) 3 4 22 60

Products for MTMR2 Gene

Sources for MTMR2 Gene

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