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... See more...

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 4
  • KIAA1073 2 4
  • EC 3.1.3.48 51
  • EC 3.1.3.95 4
  • EC 3.1.3.64 4
  • EC 3.1.3.2 51
  • EC 3.1.3 51
  • CMT4B1 3
  • CMT4B 3
  • MTMR2 5

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, 1, Autosomal Recessive. Among its related pathways are Inositol phosphate metabolism (KEGG) and Metabolism. Gene Ontology (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 Summary for MTMR2 Gene

  • Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate (PubMed:11733541, PubMed:12668758, PubMed:21372139, PubMed:14690594). Binds phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (By similarity). Stabilizes SBF2/MTMR13 at the membranes (By similarity). Specifically in peripheral nerves, stabilizes SBF2/MTMR13 protein (By similarity).

Gene Wiki entry for MTMR2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MTMR2 Gene

Genomics for MTMR2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MTMR2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J095922 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 611 +1.5 1536 4 ARHGAP35 HNRNPL GATAD2A PRDM10 REST ZNF629 TFE3 ZNF512 RFX1 LEF1 MTMR2 lnc-CEP57-4 lnc-MTMR2-1 CEP57 FAM76B FGFR3P2 piR-57195-063
GH11J095926 Enhancer 0.4 Ensembl 600.7 -1.5 -1486 0.8 PRDM10 SCRT2 ZBTB40 FEZF1 MTMR2 lnc-MTMR2-1 piR-34822-058 MAML2
GH11J095910 Promoter 0.3 EPDnew 600.4 +14.6 14560 0.1 MTMR2 lnc-CEP57-4 lnc-MTMR2-1 piR-57195-063 FAM76B
GH11J095788 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.6 +134.8 134814 4.6 BRCA1 SP1 HNRNPL CREB1 GATAD2A CTCF ATF7 PRDM10 REST ZNF629 CEP57 FAM76B lnc-MTMR2-3 FGFR3P2 MAML2 JRKL ENSG00000245552 MTMR2 AB372641
GH11J095913 Enhancer 1 Ensembl ENCODE dbSUPER 11.3 +9.2 9214 6.6 ZNF600 ARNT ZNF211 ZBTB20 CEBPB BRCA1 OSR2 JUN BCL11A FOS CEP57 MTMR2 lnc-MTMR2-1 lnc-CEP57-4 piR-57195-063 FAM76B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MTMR2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MTMR2

Top Transcription factor binding sites by QIAGEN in the MTMR2 gene promoter:
  • c-Ets-1
  • E4BP4
  • Elk-1
  • GATA-1
  • GATA-2
  • GATA-3
  • Lhx3a
  • LHX3b
  • Nkx2-2
  • STAT5A

Genomic Locations for MTMR2 Gene

Genomic Locations for MTMR2 Gene
chr11:95,832,880-95,925,315
(GRCh38/hg38)
Size:
92,436 bases
Orientation:
Minus strand
chr11:95,566,044-95,658,479
(GRCh37/hg19)
Size:
92,436 bases
Orientation:
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:
    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:
    • Homodimer (via coiled-coil domain) (PubMed:12668758, PubMed:15998640). Heterotetramer consisting of one MTMR2 dimer and one SBF2/MTMR13 dimer (PubMed:15998640). Heterodimer with SBF1/MTMR5 (PubMed:12668758, PubMed:21372139). Heterodimer with MTMR12 (PubMed:12847286).
    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

Selected DME Specific Peptides for MTMR2 Gene

Q13614:
  • YRTIRGF
  • RYKELLAKRAELQ
  • RIPVLSW
  • VLYPVAS
  • LAMLMLD
  • RHLELWV
  • NAELVFL
  • KEDEKYLQ
  • ESEDAYQNAELVFLDIHNIHVMRESLRKLKE
  • PVLSWIHPESQATITRCSQP
  • NRSTSSSERA
  • FRSRGRIPVLS
  • FLDIHNIHVMRESL
  • IHNIHVMRESLRKLKEIVYP
  • GHGDKNH
  • VFPENGWK
  • FLQFIDCVWQM
  • SLWSYINSQL
  • YRLYFKSMERDPPFVLDASLGVI
  • HCSDGWDRT
  • VYPNIEE
  • FLITILDHLYSC
  • TYPALLVVP
  • YYIRWNPR
  • NKAKGGGYE
  • DCVWQMTRQFP
  • QFPTAFEFNE
  • DSLSSASTSHSENSVHTKSAS
  • LESTHWLEHIKL
  • VNAVANKA
  • AFEFNEYFLITILDHLYSCLFGTFLCNSEQQR
  • LVEKEWLSFGHRFQ
  • WRITKINE
  • LTVTNYRL
  • SRGENSYGL
  • NKLAEMEEP
  • AKDVTYICPF
  • KLYDPLL
  • YELCDTYP
  • PVLSWIHPE

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

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

Protein Domains for MTMR2 Gene

Suggested Antigen Peptide Sequences for MTMR2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ54080, highly similar to Myotubularin-related protein 2 (EC 3.1.3.-) (A6NN98_HUMAN)
  • Myotubularin-related protein 2 (MTMR2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13614

UniProtKB/Swiss-Prot:

MTMR2_HUMAN :
  • The coiled-coil domain mediates homodimerization (PubMed:12668758, PubMed:15998640). Also mediates interaction with SBF1/MTMR5 (PubMed:12668758). By mediating MTMR2 homodimerization, indirectly involved in SBF2/MTMR13 and MTMR2 heterotetramerization (By similarity).
  • Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily.
Domain:
  • The coiled-coil domain mediates homodimerization (PubMed:12668758, PubMed:15998640). Also mediates interaction with SBF1/MTMR5 (PubMed:12668758). By mediating MTMR2 homodimerization, indirectly involved in SBF2/MTMR13 and MTMR2 heterotetramerization (By similarity).
  • The GRAM domain mediates binding to phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate.
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

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 (PubMed:11733541, PubMed:12668758, PubMed:21372139, PubMed:14690594). Binds phosphatidylinositol 4-phosphate, phosphatidylinositol 5-phosphate, phosphatidylinositol 3,5-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate (By similarity). Stabilizes SBF2/MTMR13 at the membranes (By similarity). Specifically in peripheral nerves, stabilizes SBF2/MTMR13 protein (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate; Xref=Rhea:RHEA:12316, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57880, ChEBI:CHEBI:58088; EC=3.1.3.64; Evidence={ECO:0000269|PubMed:11733541, ECO:0000269|PubMed:12668758, ECO:0000269|PubMed:14690594, ECO:0000269|PubMed:21372139};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate; Xref=Rhea:RHEA:39019, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57795, ChEBI:CHEBI:57923; EC=3.1.3.95; Evidence={ECO:0000269|PubMed:12668758, ECO:0000269|PubMed:14690594, ECO:0000269|PubMed:21372139};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Interaction with SBF1/MTMR5 increases phosphatase activity.
GENATLAS Biochemistry:
myotubularin related protein 2,ubiquitously expressed

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,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: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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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. Cytoplasm, perinuclear region. Cell projection, axon. Endosome membrane. Peripheral membrane protein. Note=Partly associated with membranes (PubMed:12668758, PubMed:15998640, PubMed:21372139). Localizes to vacuoles in hypo-osmotic conditions (By similarity). {ECO:0000250 UniProtKB:Q9Z2D1, ECO:0000269 PubMed:12668758, ECO:0000269 PubMed:15998640, ECO:0000269 PubMed:21372139}.

Subcellular locations from

COMPARTMENTS
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
nucleus 5
cytosol 5
plasma membrane 4
extracellular 4
endosome 4
cytoskeleton 2
lysosome 2
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 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 ISS,TAS --
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

Pathways by source for MTMR2 Gene

2 Qiagen pathways for MTMR2 Gene
  • Germ Cell-Sertoli Cell Junction Dynamics
  • Sertoli-Sertoli Cell Junction Dynamics

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

(6) 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
NAD Experimental Pharma Agonist, Full agonist, Activator 0
NADP Experimental Pharma 0
N-acetylmannosamine Investigational Pharma 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Beta-D-Fructose 2-phosphate
  • 2-O-phosphono-beta-D-Fructofuranose
  • 2-phospho-beta-D-Fructofuranose
  • 2-O-phosphono-b-D-Fructofuranose
  • 2-O-phosphono-β-D-fructofuranose
  • b-D-Fructose 2-phosphate
L-Sorbose
  • D-lyxo-2-Hexulose
  • D-lyxo-Hex-2-ulose
  • D-Tag
  • lyxo-2-Hexulose
  • lyxo-Hexulose
53188-23-1, 87-79-6
N-Acetyl-D-mannosamine 6-phosphate
  • 2-(acetylamino)-2-Deoxy-6-O-phosphono-alpha-D-mannopyranose
  • 2-acetamido-2-Deoxy-6-O-phosphono-alpha-D-mannopyranose
  • 2-acetamido-2-Deoxy-6-O-phosphono-alpha-D-mannose
  • 2-(acetylamino)-2-Deoxy-6-O-phosphono-a-D-mannopyranose
  • 2-(acetylamino)-2-Deoxy-6-O-phosphono-α-D-mannopyranose
873185-52-5
genes like me logo Genes that share compounds with MTMR2: view

Transcripts for MTMR2 Gene

mRNA/cDNA for MTMR2 Gene

4 REFSEQ mRNAs :
22 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MTMR2

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

Expression for MTMR2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for MTMR2 Gene



Protein tissue co-expression partners for MTMR2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MTMR2

SOURCE GeneReport for Unigene cluster for MTMR2 Gene:

Hs.181326

Evidence on tissue expression from TISSUES for MTMR2 Gene

  • Nervous system(4.9)
  • Liver(3.2)
  • Muscle(2.4)
  • Kidney(2.2)
  • Skin(2.2)

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

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

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
Chimpanzee
(Pan troglodytes)
Mammalia MTMR2 30 31
  • 99.9 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MTMR2 31
  • 97 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MTMR2 31
  • 94 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MTMR2 30 31
  • 93.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MTMR2 30 31
  • 92.59 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mtmr2 30 17 31
  • 90.72 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mtmr2 30
  • 89.89 (n)
Chicken
(Gallus gallus)
Aves MTMR2 30 31
  • 81.73 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MTMR2 31
  • 93 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mtmr2 30
  • 72.81 (n)
Zebrafish
(Danio rerio)
Actinopterygii mtmr2 30 31
  • 70.25 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta myotubularin 32
  • 60 (a)
mtm 30 31
  • 57.03 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009563 30
  • 56.9 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y110A7A.5 32
  • 45 (a)
mtm-1 31
  • 43 (a)
OneToMany
T24A11.1a 32
  • 37 (a)
T24A11.1b 32
  • 37 (a)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT5G04540 30
  • 47.8 (n)
Rice
(Oryza sativa)
Liliopsida Os08g0556700 30
  • 52.47 (n)
Os.18764 30
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5340 31
  • 61 (a)
OneToMany
Species where no ortholog for MTMR2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for MTMR2: view image

Paralogs for MTMR2 Gene

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

  • MTMR2_HUMAN
  • C9JEX3_HUMAN
genes like me logo Genes that share paralogs with MTMR2: view

Variants for MTMR2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MTMR2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
637804 Uncertain Significance: Charcot-Marie-Tooth disease 95,838,093(-) C/T SPLICE_DONOR_VARIANT
637805 Uncertain Significance: Charcot-Marie-Tooth disease 95,862,304(-) TC/T FRAMESHIFT_VARIANT
637806 Uncertain Significance: Charcot-Marie-Tooth disease 95,862,321(-) C/T MISSENSE_VARIANT
637807 Uncertain Significance: Charcot-Marie-Tooth disease 95,838,152(-) AG/A FRAMESHIFT_VARIANT
637808 Uncertain Significance: Charcot-Marie-Tooth disease 95,849,820(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for MTMR2 Gene

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)

Additional Variant Information for MTMR2 Gene

Human Gene Mutation Database (HGMD)
MTMR2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MTMR2

SNP Genotyping and Copy Number Assay Products

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

Disorders for MTMR2 Gene

MalaCards: The human disease database

(39) MalaCards diseases for MTMR2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MTMR2 in MalaCards View complete list of genes associated with diseases

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.

Additional Disease Information for MTMR2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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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 23 41
  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 23
  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 23
  4. 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 23
  5. 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 23

Products for MTMR2 Gene

Sources for MTMR2 Gene