MTMR2

Protein-coding gene in the species Homo sapiens
MTMR2
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

1LW3, 1M7R, 1ZSQ, 1ZVR

Identifiers
AliasesMTMR2, CMT4B, CMT4B1, myotubularin related protein 2
External IDsOMIM: 603557; MGI: 1924366; HomoloGene: 22951; GeneCards: MTMR2; OMA:MTMR2 - orthologs
EC number3.1.3.64
Gene location (Human)
Chromosome 11 (human)
Chr.Chromosome 11 (human)[1]
Chromosome 11 (human)
Genomic location for MTMR2
Genomic location for MTMR2
Band11q21Start95,821,766 bp[1]
End95,925,315 bp[1]
Gene location (Mouse)
Chromosome 9 (mouse)
Chr.Chromosome 9 (mouse)[2]
Chromosome 9 (mouse)
Genomic location for MTMR2
Genomic location for MTMR2
Band9|9 A1Start13,748,410 bp[2]
End13,806,481 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • sperm

  • parotid gland

  • cartilage tissue

  • tibia

  • buccal mucosa cell

  • stromal cell of endometrium

  • Achilles tendon

  • corpus callosum

  • Epithelium of choroid plexus

  • bronchial epithelial cell
Top expressed in
  • spermatocyte

  • zygote

  • genital tubercle

  • tail of embryo

  • spermatid

  • secondary oocyte

  • ventricular zone

  • right kidney

  • interventricular septum

  • visual cortex
More reference expression data
BioGPS




More reference expression data
Gene ontology
Molecular function
  • protein homodimerization activity
  • phosphatase activity
  • protein binding
  • protein tyrosine phosphatase activity
  • phosphatidylinositol phosphate phosphatase activity
  • hydrolase activity
  • protein tyrosine/serine/threonine phosphatase activity
  • phosphatidylinositol-3-phosphatase activity
  • phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity
Cellular component
  • cytoplasm
  • synaptic membrane
  • cytosol
  • endosome
  • early endosome membrane
  • membrane
  • vacuolar membrane
  • synaptic vesicle
  • dendritic spine
  • axon
  • dendrite
  • extracellular exosome
  • nucleus
  • postsynaptic density
  • intracellular membrane-bounded organelle
  • endosome membrane
  • cell projection
  • perinuclear region of cytoplasm
Biological process
  • negative regulation of endocytosis
  • phosphatidylinositol metabolic process
  • negative regulation of receptor catabolic process
  • myelin assembly
  • lipid metabolism
  • negative regulation of receptor internalization
  • protein dephosphorylation
  • neuron development
  • protein tetramerization
  • negative regulation of excitatory postsynaptic potential
  • dendritic spine maintenance
  • phosphatidylinositol dephosphorylation
  • positive regulation of early endosome to late endosome transport
  • phosphatidylinositol biosynthetic process
  • peptidyl-tyrosine dephosphorylation
  • negative regulation of myelination
  • inositol phosphate dephosphorylation
  • dephosphorylation
  • regulation of phosphatidylinositol dephosphorylation
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

8898

77116

Ensembl

ENSG00000087053

ENSMUSG00000031918

UniProt

Q13614

Q9Z2D1

RefSeq (mRNA)

NM_001243571
NM_016156
NM_201278
NM_201281

NM_023858
NM_001372573
NM_001373873
NM_001373874
NM_001373875

NM_001373876
NM_001373877
NM_001373878

RefSeq (protein)

NP_001230500
NP_057240
NP_958435
NP_958438

NP_076347
NP_001359502
NP_001360802
NP_001360803
NP_001360804

NP_001360805
NP_001360806
NP_001360807

Location (UCSC)Chr 11: 95.82 – 95.93 MbChr 9: 13.75 – 13.81 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene.[5][6][7][8]

Function

This gene is a member of the myotubularin family and encodes a putative tyrosine phosphatase. The protein also contains a GRAM domain.[5] Mutations in this gene are a cause of Charcot-Marie-Tooth disease type 4B, an autosomal recessive demyelinating neuropathy. Multiple alternatively spliced transcript variants have been found, but the biological validity of some variants has not been determined.[8]

Interactions

MTMR2 has been shown to interact with SBF1.[9]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000087053 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031918 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "RecName: Full=Myotubularin-related protein 2; AltName: Full=Phosphatidylinositol-3,5-bisphosphate 3-phosphatase; AltName: Full=Phosphatidylinositol-3-phosphate phosphatase". Retrieved March 7, 2020.
  6. ^ Laporte J, Hu LJ, Kretz C, Mandel JL, Kioschis P, Coy JF, Klauck SM, Poustka A, Dahl N (Jul 1996). "A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast". Nat. Genet. 13 (2): 175–82. doi:10.1038/ng0696-175. PMID 8640223. S2CID 30028223.
  7. ^ Laporte J, Blondeau F, Buj-Bello A, Tentler D, Kretz C, Dahl N, Mandel JL (Dec 1998). "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human". Hum. Mol. Genet. 7 (11): 1703–12. doi:10.1093/hmg/7.11.1703. PMID 9736772.
  8. ^ a b "Entrez Gene: MTMR2 myotubularin related protein 2".
  9. ^ Kim SA, Vacratsis PO, Firestein R, Cleary ML, Dixon JE (Apr 2003). "Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase". Proc. Natl. Acad. Sci. U.S.A. 100 (8): 4492–7. Bibcode:2003PNAS..100.4492K. doi:10.1073/pnas.0431052100. PMC 153583. PMID 12668758.

Further reading

  • Previtali SC, Quattrini A, Bolino A (2007). "Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases". Expert Rev Mol Med. 9 (25): 1–16. doi:10.1017/S1462399407000439. PMID 17880751. S2CID 8602743.
  • Begley MJ, Taylor GS, Brock MA, Ghosh P, Woods VL, Dixon JE (2006). "Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase". Proc. Natl. Acad. Sci. U.S.A. 103 (4): 927–32. Bibcode:2006PNAS..103..927B. doi:10.1073/pnas.0510006103. PMC 1347996. PMID 16410353.
  • Robinson FL, Dixon JE (2005). "The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease". J. Biol. Chem. 280 (36): 31699–707. doi:10.1074/jbc.M505159200. PMID 15998640.
  • Begley MJ, Taylor GS, Kim SA, Veine DM, Dixon JE, Stuckey JA (2003). "Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome". Mol. Cell. 12 (6): 1391–402. doi:10.1016/S1097-2765(03)00486-6. PMID 14690594.
  • Previtali SC, Zerega B, Sherman DL, Brophy PJ, Dina G, King RH, Salih MM, Feltri L, Quattrini A, Ravazzolo R, Wrabetz L, Monaco AP, Bolino A (2003). "Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve". Hum. Mol. Genet. 12 (14): 1713–23. doi:10.1093/hmg/ddg179. PMID 12837694.
  • Kim SA, Vacratsis PO, Firestein R, Cleary ML, Dixon JE (2003). "Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase". Proc. Natl. Acad. Sci. U.S.A. 100 (8): 4492–7. Bibcode:2003PNAS..100.4492K. doi:10.1073/pnas.0431052100. PMC 153583. PMID 12668758.
  • Nelis E, Erdem S, Tan E, Löfgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H (2002). "A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths". Neuromuscul. Disord. 12 (9): 869–73. doi:10.1016/S0960-8966(02)00046-9. PMID 12398840. S2CID 1140443.
  • Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP (2000). "Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2". Nat. Genet. 25 (1): 17–9. doi:10.1038/75542. PMID 10802647. S2CID 8983559.
  • Bolino A, Levy ER, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou RK, Hausmanowa-Petrusewicz I, Mandich P, Gambardella A, Quattrone A, Devoto M, Monaco AP (2000). "Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22". Genomics. 63 (2): 271–8. doi:10.1006/geno.1999.6088. PMID 10673338.
  • Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (3): 197–205. doi:10.1093/dnares/6.3.197. PMID 10470851.

External links

  • GeneReviews/NCBI/NIH/UW entry on Charcot-Marie-Tooth Neuropathy Type 4
  • v
  • t
  • e
  • 1lw3: Crystal Structure of Myotubularin-related protein 2 complexed with phosphate
    1lw3: Crystal Structure of Myotubularin-related protein 2 complexed with phosphate
  • 1m7r: Crystal Structure of Myotubularin-related Protein-2 (MTMR2) Complexed with Phosphate
    1m7r: Crystal Structure of Myotubularin-related Protein-2 (MTMR2) Complexed with Phosphate
  • 1zsq: Crystal Structure of MTMR2 in complex with phosphatidylinositol 3-phosphate
    1zsq: Crystal Structure of MTMR2 in complex with phosphatidylinositol 3-phosphate
  • 1zvr: Crystal Structure of MTMR2 in complex with phosphatidylinositol 3,5-bisphosphate
    1zvr: Crystal Structure of MTMR2 in complex with phosphatidylinositol 3,5-bisphosphate
  • v
  • t
  • e
Class I
Classical PTPs
Receptor type PTPs
Non receptor type PTPs
VH1-like or
dual specific
phosphatases
(DSPs)
MAPK phosphatases (MKPs)
Slingshots
PRLs
CDC14s
Atypical DSPs
Phosphatase and tensin
homologs (PTENs)
Myotubularins
Class II
Class III
Class IV


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