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Aliases for MTMR2 Gene

Aliases for MTMR2 Gene

  • Myotubularin Related Protein 2 2 3
  • Phosphatidylinositol-3,5-Bisphosphate 3-Phosphatase 3 4
  • Phosphatidylinositol-3-Phosphate Phosphatase 3 4
  • CMT4B1 3 6
  • Myotubularin-Related Protein 2 3
  • EC 3.1.3.48 63
  • EC 3.1.3.95 4
  • EC 3.1.3.64 4
  • EC 3.1.3.2 63
  • KIAA1073 4
  • EC 3.1.3 63
  • 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 4b2. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include protein homodimerization activity and protein tyrosine/serine/threonine phosphatase activity. An important paralog of this gene is SBF1.

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MTMR2 Gene

Start:
95,832,880 bp from pter
End:
95,925,315 bp from pter
Size:
92,436 bases
Orientation:
Minus strand

Genomic View for MTMR2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Q13614-MTMR2_HUMAN
    Recommended name:
    Myotubularin-related protein 2
    Protein Accession:
    Q13614
    Secondary Accessions:
    • A6NN98
    • Q9UPS9

    Protein attributes for MTMR2 Gene

    Size:
    643 amino acids
    Molecular mass:
    73381 Da
    Quaternary structure:
    • Homooligomer and heterooligomer. Interacts with SBF1 and SBF2.
    SequenceCaution:
    • 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

    UniProtKB/Swiss-Prot:

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

Antibody Products

Domains for MTMR2 Gene

Gene Families for MTMR2 Gene

HGNC:
  • DUSPM :Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins

Suggested Antigen Peptide Sequences for MTMR2 Gene

Graphical View of Domain Structure for InterPro Entry

Q13614

UniProtKB/Swiss-Prot:

MTMR2_HUMAN :
  • Q13614
Domain:
  • The coiled-coil domain mediates interaction with SBF2
  • Contains 1 GRAM domain.
  • Contains 1 myotubularin phosphatase domain.
Family:
  • 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:0004438 phosphatidylinositol-3-phosphatase activity IDA 12668758
GO:0004725 protein tyrosine phosphatase activity IEA --
GO:0005515 protein binding IPI 12837694
GO:0008138 protein tyrosine/serine/threonine phosphatase activity NAS 9736772
GO:0016791 phosphatase activity --
genes like me logo Genes that share ontologies with MTMR2: view
genes like me logo Genes that share phenotypes with MTMR2: view

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

  • Predesigned siRNA for gene silencing in human,mouse,rat for MTMR2

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for MTMR2 Gene COMPARTMENTS Subcellular localization image for MTMR2 gene
Compartment Confidence
endosome 5
nucleus 5
cytoskeleton 3
cytosol 3
vacuole 2
lysosome 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:0005768 endosome --
GO:0005774 vacuolar membrane IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with MTMR2: view

Pathways 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:0008219 cell death --
genes like me logo Genes that share ontologies with MTMR2: view

Compounds for MTMR2 Gene

(4) Novoseek inferred chemical compound relationships for MTMR2 Gene

Compound -log(P) Hits PubMed IDs
phosphatidylinositol 3-phosphate 77.9 2
phosphoinositide 58.4 4
phosphatidylinositol 25.5 3
tyrosine 7.99 2
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

  • Predesigned siRNA for gene silencing in human,mouse,rat for MTMR2

Primer Products

Flow Cytometry Products

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
SP1:
SP2: - -
SP3:

Relevant External Links for MTMR2 Gene

GeneLoc Exon Structure for
MTMR2
ECgene alternative splicing isoforms for
MTMR2

Expression for MTMR2 Gene

mRNA expression in normal human tissues for MTMR2 Gene

Integrated Proteomics: protein expression 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 expressions with MTMR2: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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
chimpanzee
(Pan troglodytes)
Mammalia MTMR2 35
  • 99.9 (n)
  • 100 (a)
MTMR2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MTMR2 35
  • 92.59 (n)
  • 98.29 (a)
MTMR2 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MTMR2 35
  • 93.73 (n)
  • 98.44 (a)
MTMR2 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mtmr2 35
  • 90.72 (n)
  • 97.36 (a)
Mtmr2 16
Mtmr2 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MTMR2 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MTMR2 36
  • 94 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mtmr2 35
  • 89.89 (n)
  • 96.89 (a)
chicken
(Gallus gallus)
Aves MTMR2 35
  • 81.73 (n)
  • 96.15 (a)
MTMR2 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MTMR2 36
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mtmr2 35
  • 72.81 (n)
  • 80.88 (a)
zebrafish
(Danio rerio)
Actinopterygii mtmr2 35
  • 70.25 (n)
  • 78.31 (a)
mtmr2 36
  • 75 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009563 35
  • 56.9 (n)
  • 62.5 (a)
fruit fly
(Drosophila melanogaster)
Insecta mtm 35
  • 57.03 (n)
  • 58.86 (a)
mtm 36
  • 57 (a)
OneToMany
myotubularin 37
  • 60 (a)
worm
(Caenorhabditis elegans)
Secernentea mtm-1 36
  • 43 (a)
OneToMany
T24A11.1a 37
  • 37 (a)
Y110A7A.5 37
  • 45 (a)
T24A11.1b 37
  • 37 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G04540 35
  • 47.8 (n)
  • 40.63 (a)
rice
(Oryza sativa)
Liliopsida Os.18764 35
Os08g0556700 35
  • 52.47 (n)
  • 44.54 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5340 36
  • 61 (a)
OneToMany
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

ENSEMBL:
Gene Tree for MTMR2 (if available)
TreeFam:
Gene Tree for MTMR2 (if available)

Paralogs for MTMR2 Gene

Paralogs for MTMR2 Gene

Selected 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 MAF
rs470377 -- 95,853,045(-) atata(A/T)tatat intron-variant
rs472864 -- 95,881,684(+) tatcc(A/G)gcaac intron-variant
rs473148 -- 95,895,442(-) ACTAC(C/T)TATTT intron-variant
rs473155 -- 95,863,709(+) ATTCT(C/T)AGGCC intron-variant
rs473157 -- 95,863,710(-) TGGCC(C/T)GAGAA 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

Relevant External Links for MTMR2 Gene

HapMap Linkage Disequilibrium report
MTMR2
Human Gene Mutation Database (HGMD)
MTMR2
Locus Specific Mutation Databases (LSDB)
MTMR2

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

Disorders for MTMR2 Gene

(1) OMIM Diseases for MTMR2 Gene (603557)

UniProtKB/Swiss-Prot

MTMR2_HUMAN
  • 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.

(2) University of Copenhagen DISEASES for MTMR2 Gene

(7) Novoseek inferred disease relationships for MTMR2 Gene

Disease -log(P) Hits PubMed IDs
cmt4b 98.9 24
charcot-marie-tooth disease 92.7 16
centronuclear myopathy 87.5 5
hereditary neuropathy 81.2 4
sensory neuropathy 74.8 2

Relevant External Links for MTMR2

GeneTests
MTMR2
GeneReviews
MTMR2
Genetic Association Database (GAD)
MTMR2
Human Genome Epidemiology (HuGE) Navigator
MTMR2
genes like me logo Genes that share disorders with MTMR2: view

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
  2. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot- Marie-Tooth disease. (PMID: 15998640) Robinson F.L. … Dixon J.E. (J. Biol. Chem. 2005) 3 4 23
  3. Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase. (PMID: 16410353) Begley M.J. … Dixon J.E. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3 4 23
  4. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. (PMID: 10802647) Bolino A. … Monaco A.P. (Nat. Genet. 2000) 3 4 23
  5. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PMID: 11835375) Boerkoel C.F. … Lupski J.R. (Ann. Neurol. 2002) 3 23 48

Products for MTMR2 Gene

Sources for MTMR2 Gene

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