ENSMUSG00000031918


Mus musculus

Features
Gene ID: ENSMUSG00000031918
  
Biological name :Mtmr2
  
Synonyms : Mtmr2 / Myotubularin-related protein 2 / Q9Z2D1
  
Possible biological names infered from orthology : Q13614
  
Species: Mus musculus
  
Chr. number: 9
Strand: 1
Band: A1
Gene start: 13748410
Gene end: 13806481
  
Corresponding Affymetrix probe sets: 10583215 (MoGene1.0st)   1425459_at (Mouse Genome 430 2.0 Array)   1425460_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000121223
Ensembl peptide - ENSMUSP00000117332
Ensembl peptide - ENSMUSP00000121933
Ensembl peptide - ENSMUSP00000034396
Ensembl peptide - ENSMUSP00000114509
Ensembl peptide - ENSMUSP00000115906
NCBI entrez gene - 77116     See in Manteia.
MGI - MGI:1924366
RefSeq - XM_017313693
RefSeq - XM_006510679
RefSeq - XM_006510681
RefSeq - XM_006510682
RefSeq - XM_006510683
RefSeq - XM_011242621
RefSeq - XM_017313692
RefSeq - NM_023858
RefSeq - XM_006510676
RefSeq - XM_006510677
RefSeq - XM_006510678
RefSeq Peptide - NP_076347
swissprot - F6T2Q0
swissprot - B8JJF6
swissprot - B8JJF3
swissprot - Q6P572
swissprot - Q9Z2D1
Ensembl - ENSMUSG00000031918
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mtmr2ENSDARG00000004616Danio rerio
 MTMR2ENSGALG00000017200Gallus gallus
 MTMR2ENSG00000087053Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mtmr1 / Q9Z2C4 / Myotubularin-related protein 1 / Q13613*ENSMUSG0000001521468
Mtm1 / Q9Z2C5 / X-linked myotubular myopathy gene 1 / Q13496* / myotubularin 1*ENSMUSG0000003133759
Mtmr3 / myotubularin related protein 3 / Q13615*ENSMUSG0000003435434
Mtmr6 / Q8VE11 / Myotubularin-related protein 6 / Q9Y217*ENSMUSG0000002198734
Mtmr7 / Q9Z2C9 / Myotubularin-related protein 7 / Q9Y216*ENSMUSG0000003943133
Mtmr4 / Q91XS1 / Mus musculus myotubularin related protein 4 (Mtmr4), transcript variant 2, mRNA. / Q9NYA4* / myotubularin related protein 4*ENSMUSG0000001840133
Sbf1 / Q6ZPE2 / SET binding factor 1 / O95248*ENSMUSG0000003652931
Sbf2 / SET binding factor 2 / Q86WG5*ENSMUSG0000003837129
Mtmr9 / Q9Z2D0 / Myotubularin-related protein 9 / Q96QG7*ENSMUSG0000003507829


Protein motifs (from Interpro)
Interpro ID Name
 IPR000387  Tyrosine specific protein phosphatases domain
 IPR003595  Protein-tyrosine phosphatase, catalytic
 IPR004182  GRAM domain
 IPR010569  Myotubularin-like phosphatase domain
 IPR011993  PH-like domain superfamily
 IPR016130  Protein-tyrosine phosphatase, active site
 IPR029021  Protein-tyrosine phosphatase-like
 IPR030564  Myotubularin family


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002091 negative regulation of receptor internalization IEA
 biological_processGO:0006629 lipid metabolic process IEA
 biological_processGO:0016311 dephosphorylation IEA
 biological_processGO:0031642 negative regulation of myelination IMP
 biological_processGO:0032288 myelin assembly IMP
 biological_processGO:0035335 peptidyl-tyrosine dephosphorylation IEA
 biological_processGO:0045806 negative regulation of endocytosis IEA
 biological_processGO:0046488 phosphatidylinositol metabolic process IMP
 biological_processGO:0046855 inositol phosphate dephosphorylation IDA
 biological_processGO:0046856 phosphatidylinositol dephosphorylation IEA
 biological_processGO:0048666 neuron development IGI
 biological_processGO:0051262 protein tetramerization IPI
 biological_processGO:0060304 regulation of phosphatidylinositol dephosphorylation IEA
 biological_processGO:0090394 negative regulation of excitatory postsynaptic potential IEA
 biological_processGO:0097062 dendritic spine maintenance IEA
 biological_processGO:2000643 positive regulation of early endosome to late endosome transport IEA
 biological_processGO:2000645 negative regulation of receptor catabolic process IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005774 vacuolar membrane IDA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0008021 synaptic vesicle IEA
 cellular_componentGO:0014069 postsynaptic density IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030425 dendrite IEA
 cellular_componentGO:0031901 early endosome membrane IEA
 cellular_componentGO:0043197 dendritic spine IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 cellular_componentGO:0097060 synaptic membrane IEA
 molecular_functionGO:0004438 phosphatidylinositol-3-phosphatase activity ISO
 molecular_functionGO:0004725 protein tyrosine phosphatase activity IEA
 molecular_functionGO:0016787 hydrolase activity IEA
 molecular_functionGO:0016791 phosphatase activity IEA
 molecular_functionGO:0042803 protein homodimerization activity IPI
 molecular_functionGO:0052629 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity IEA
 molecular_functionGO:0052866 phosphatidylinositol phosphate phosphatase activity IMP


Pathways (from Reactome)
Pathway description
Synthesis of PIPs at the ER membrane
Synthesis of PIPs at the early endosome membrane
Synthesis of PIPs at the late endosome membrane


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000572 abnormal autopod morphology "malformation of the hand or foot" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Mapk14tm1Mms/Mapk14tm1Mms
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0000745 tremors "repetitive, cyclical movements of the body or a body part; usually involuntary, but can also manifest in response to an attempt at movement" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Mapk14tm1Mms/Mapk14tm1Mms
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0000920 abnormal myelination "atypical or altered myelination in axon sheaths" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mapk14tm1Mms/Mapk14tm1Mms
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Mtmr2tm1Abol/Mtmr2tm1Abol,Tg(Mpz-cre)26Mes/0
Genetic Background: involves: 129S2/SvPas * FVB/N

Allelic Composition: Mtmr2tm1Ueli/Mtmr2tm1Ueli
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

 MP:0001156 abnormal spermatogenesis "incomplete maturation or aberrant formation of the male gametes" [J:58959]
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Allelic Composition: Mapk14tm1Mms/Mapk14tm1Mms
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Mapk14tm1Mms/Mapk14tm1Mms
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Mtmr2tm1Ueli/Mtmr2tm1Ueli,Sbf2Gt(XH212)Byg/Sbf2Gt(XH212)Byg
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
Show

Allelic Composition: Mapk14tm1Mms/Mapk14tm1Mms
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mapk14tm1Mms/Mapk14tm1Mms
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Mtmr2tm1Ueli/Mtmr2tm1Ueli
Genetic Background: involves: 129S6/SvEvTac * C57BL/6

Allelic Composition: Mtmr2tm1Ueli/Mtmr2tm1Ueli,Sbf2Gt(XH212)Byg/Sbf2Gt(XH212)Byg
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

 MP:0002169 no phenotype detected "normal, viable and fertile appearance and behavior; indistinguishable from controls" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Faim2tm1Dgen/Faim2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0002651 abnormal sciatic nerve "malformation, absence or misprojection of the nerve which originates in the lumbar and sacral spinal cord (L4 to S3) and supplies motor and sensory innervation to the lower extremity" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Mapk14tm1Mms/Mapk14tm1Mms
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

Allelic Composition: Mtmr2tm1Abol/Mtmr2tm1Abol,Tg(Mpz-cre)26Mes/0
Genetic Background: involves: 129S2/SvPas * FVB/N

 MP:0005403 abnormal nerve conduction "anomaly in the act of transmitting electricity along a single nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Mapk14tm1Mms/Mapk14tm1Mms
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0005405 axon degeneration "retrogressive pathologic change in the single process of a nerve cell " [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Mapk14tm1Mms/Mapk14tm1Mms
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0010540 long stride length "increased average distance between steps" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mapk14tm1Mms/Mapk14tm1Mms
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0011101 partial prenatal lethality "the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Mapk14tm1Mms/Mapk14tm1Mms
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000038371 Sbf2 / SET binding factor 2 / Q86WG5*  / reaction / complex
 ENSMUSG00000031918 Mtmr2 / Q9Z2D1 / Myotubularin-related protein 2 / Q13614*  / reaction / complex
 ENSMUSG00000039458 Mtmr12 / Q80TA6 / Mus musculus myotubularin related protein 12 (Mtmr12), transcript variant 2, mRNA. / Q9C0I1* / myotubularin related protein 12*  / complex / reaction
 ENSMUSG00000036529 Sbf1 / Q6ZPE2 / SET binding factor 1 / O95248*  / complex / reaction






 

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