ENSMUSG00000022139


Mus musculus

Features
Gene ID: ENSMUSG00000022139
  
Biological name :Mbnl2
  
Synonyms : Mbnl2 / Muscleblind-like protein 2 / Q8C181
  
Possible biological names infered from orthology : muscleblind like splicing regulator 2 / Q5VZF2
  
Species: Mus musculus
  
Chr. number: 14
Strand: 1
Band: E4
Gene start: 120275669
Gene end: 120431697
  
Corresponding Affymetrix probe sets: 10417053 (MoGene1.0st)   1433754_at (Mouse Genome 430 2.0 Array)   1436858_at (Mouse Genome 430 2.0 Array)   1455827_at (Mouse Genome 430 2.0 Array)   1457237_at (Mouse Genome 430 2.0 Array)   1457477_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000085763
Ensembl peptide - ENSMUSP00000126186
Ensembl peptide - ENSMUSP00000154652
Ensembl peptide - ENSMUSP00000154734
Ensembl peptide - ENSMUSP00000153973
Ensembl peptide - ENSMUSP00000154559
NCBI entrez gene - 105559     See in Manteia.
MGI - MGI:2145597
RefSeq - XM_006518376
RefSeq - NM_175341
RefSeq - NM_207515
RefSeq - XM_006518373
RefSeq - XM_006518374
RefSeq - XM_006518375
RefSeq - XM_006518371
RefSeq Peptide - NP_997398
RefSeq Peptide - NP_780550
swissprot - Q8C181
Ensembl - ENSMUSG00000022139
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 mbnl2ENSDARG00000018460Danio rerio
 MBNL2ENSGALG00000016890Gallus gallus
 MBNL2ENSG00000139793Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Mbnl1 / Q9JKP5 / Muscleblind-like protein 1 / Q9NR56* / muscleblind like splicing regulator 1*ENSMUSG0000002776363
Mbnl3 / Q8R003 / muscleblind like splicing factor 3 / Q9NUK0* / muscleblind like splicing regulator 3*ENSMUSG0000003610958


Protein motifs (from Interpro)
Interpro ID Name
 IPR000571  Zinc finger, CCCH-type
 IPR036855  Zinc finger, CCCH-type superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0000381 regulation of alternative mRNA splicing, via spliceosome ISO
 biological_processGO:0006397 mRNA processing IEA
 biological_processGO:0008380 RNA splicing IEA
 biological_processGO:0043484 regulation of RNA splicing IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0003723 RNA binding IEA
 molecular_functionGO:0046872 metal ion binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000160 kyphosis "forward curvature of the spine, characterized by extensive flexion. " [J:62023, J:66943, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0000162 lordosis "anteriorly convex curvature of the spine, "saddle back" " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:62022]
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Allelic Composition: Asphtm1Egk/Asphtm1Egk
Genetic Background: Not Specified

 MP:0000274 enlarged heart "increase over normal size of the heart" [J:29971]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0000748 progressive muscle weakness "increasing loss of strength over time" [MGI:CLS, J:67994]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0000749 muscle degeneration "pathological deterioration of muscle tissue, often accompanied by loss of function" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0001053 abnormal neuromuscular synapse "malformed or absent membrane to membrane contact of a motor axon and a muscle myofiber resulting in aberrant transmission of nerve impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159, J:47439]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Angptl8tm1(KOMP)Vlcg/Angptl8+
Genetic Background: involves: C57BL/6NTac

 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: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0001473 reduced long term potentiation "less than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells " [Principles of Neural Science:ISBN 0-8385-8034-3]
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Allelic Composition: Angptl8tm1(KOMP)Vlcg/Angptl8+
Genetic Background: involves: C57BL/6NTac

 MP:0001516 abnormal motor coordination/ balance "altered ability of an animal to maintain skillful and effective interaction of movements or maintenance of equilibrium" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0001900 impaired synaptic plasticity "decreased or inability of the nervous system to change its reactivity as a result of successive activations " [MeSH:National Library of Medicine - Medical Subject Headings , 2003, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Angptl8tm1(KOMP)Vlcg/Angptl8+
Genetic Background: involves: C57BL/6NTac

 MP:0002066 abnormal motor capabilities/coordination/movement "altered ability to coordinate voluntary movement or repetitive, compulsive movements" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0002083 premature death "death after 3 weeks of age, but before normal life span" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0002206 abnormal CNS synaptic transmission "defect in the communication from a neuron to a target across a synapse in the central nervous system" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Angptl8tm1(KOMP)Vlcg/Angptl8+
Genetic Background: involves: C57BL/6NTac

 MP:0002625 left ventricle hypertrophy "increased size of the left ventricle" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0002906 susceptibility to pharmacologically induced seizures "inability to withstand doses of pharmacological drugs that induce seizure activity in normal animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:69504]
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Allelic Composition: Angptl8tm1(KOMP)Vlcg/Angptl8+
Genetic Background: involves: C57BL/6NTac

Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0002912 abnormal excitatory postsynaptic potential "defect in the potential detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Angptl8tm1(KOMP)Vlcg/Angptl8+
Genetic Background: involves: C57BL/6NTac

 MP:0003084 abnormal skeletal muscle fiber morphology "anomalous structure of the skeletal muscle fibers, the large multinucleated cells that make up the skeletal muscles" [smb:Susan M. Bello, Mouse Genome Informatics Curator, Stedman s Medical Dictionary, 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Asphtm1Egk/Asphtm1Egk
Genetic Background: Not Specified

 MP:0003140 dilated atria "an expansion in the volume of one or both of the upper chambers of the heart" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0003141 cardiac fibrosis "formation of fibrous tissue within the heart often resulting from inflammation or injury " [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0003157 impaired muscle relaxation "reduced or absent ability of muscle to lengthen following contractions" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:92510]
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Allelic Composition: Asphtm1Egk/Asphtm1Egk
Genetic Background: Not Specified

Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0003233 prolonged QT interval "increase in the length of time required for ventricular depolarization and repolarization to occur, usually as a result of increased repolarization time" [J:93197, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0003851 skeletal muscle interstitial fibrosis "formation of fibrous tissue within the interstices of skeletal muscle as a result of repair or a reactive process" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
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Allelic Composition: Asphtm1Egk/Asphtm1Egk
Genetic Background: Not Specified

 MP:0003896 prolonged PQ interval "increase in the length of time between the beginning of atrial depolarisation and the beginning of ventricular depolarisation" [monikat:Monika Tomczuk, Mouse Genome Informatics Curator]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0003997 tonic-clonic seizures "increased number or decreased threshold for the induction of a seizure characterized by initial rigidity followed by rhythmic jerking movements" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Angptl8tm1(KOMP)Vlcg/Angptl8+
Genetic Background: involves: C57BL/6NTac

 MP:0005608 cardiac interstitial fibrosis "formation of fibrous tissue within the interstices of the heart as a result of repair or a reactive process" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, RGD:Rat Genome Database submission]
Show

Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 MP:0008414 abnormal spatial reference memory "anomaly in the ability to recall spatial location information from previous encounters or training sessions in order to naviagate or perform other behavior using such locational cues" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Angptl8tm1(KOMP)Vlcg/Angptl8+
Genetic Background: involves: C57BL/6NTac

 MP:0009400 decreased skeletal muscle fiber size "decrease in the size of the large multinucleated cells that make up the skeletal muscles" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Asphtm1Egk/Asphtm1Egk
Genetic Background: Not Specified

Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1Sws/Mbnl2tm1Sws,Tg(Myog-cre)1Eno/0
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0009403 increased variability of skeletal muscle fiber size "greater range or dispersion within a distribution of skeletal muscle fiber size within a muscle compared to controls" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1Sws/Mbnl2tm1Sws,Tg(Myog-cre)1Eno/0
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0009404 centrally nucleated skeletal muscle fibers "cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Asphtm1Egk/Asphtm1Egk
Genetic Background: Not Specified

Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1Sws/Mbnl2tm1Sws,Tg(Myog-cre)1Eno/0
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0009415 skeletal muscle degeneration "pathological deterioration of skeletal muscle tissue, often accompanied by loss of function" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1Sws/Mbnl2tm1Sws,Tg(Myog-cre)1Eno/0
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0009436 fragmentation of sleep/wake states "short bouts of sleep/wake stages with an increased number of transitions among these stages compared to controls" [PMID:19246384]
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Allelic Composition: Angptl8tm1(KOMP)Vlcg/Angptl8+
Genetic Background: involves: C57BL/6NTac

 MP:0009703 decreased birth body size "reduction in average body size at birth compared to controls" [MGI:anna "Anna V. Anagnostopoulos, Mouse Genome Informatics Curator"]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1Sws/Mbnl2tm1Sws,Tg(Myog-cre)1Eno/0
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0010053 decreased grip strength "reduced ability to grasp and hold objects, often measured as time spent hanging from an object or wire" [ISBN:0471316393 "Crawley, JN, What s Wrong with my Mouse: Behavioral Phenotyping of Transgenic and Knockout Mice"]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1Sws/Mbnl2tm1Sws,Tg(Myog-cre)1Eno/0
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0010392 prolonged QRS complex duration "increase in the length of time of the largest-amplitude portion of the ECG, caused by currents generated when the ventricles depolarize prior to their contraction; prolongation of the QRS complex duration reflects slowed conduction in the heart" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0010519 atrioventricular block "a partial or complete obstruction of the impulse that originates in the atria or sinoatrial node from reaching or transmitting through the atrioventricular node to the ventricles" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition"]
Show

Allelic Composition: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0011086 partial postnatal 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 anytime between the neonatal period and weaning age (Mus: P1 to approximately 3 weeks of age)" [MGI:csmith]
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Allelic Composition: Angptl8tm1(KOMP)Vlcg/Angptl8+
Genetic Background: involves: C57BL/6NTac

 MP:0011091 complete prenatal lethality "death of all organisms of a given genotype in a population between fertilization and birth (Mus: approximately E18.5)" [MGI:csmith]
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Allelic Composition: Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/SvImJ * BALB/cJ * C57BL/6J

 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: Mbnl1tm1Sws/Mbnl1tm1Sws,Mbnl2tm1.1Sws/Mbnl2+
Genetic Background: involves: 129S1/Sv * 129S1/SvImJ * C57BL

 MP:0012287 increased frequency of paradoxical sleep "increased incidence or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity" [http://orcid.org/0000-0001-5208-3432]
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Allelic Composition: Angptl8tm1(KOMP)Vlcg/Angptl8+
Genetic Background: involves: C57BL/6NTac

 MP:0012288 abnormal paradoxical sleep pattern "any anomaly in the frequency or duration of the sleep stage in which dreams occur and the body undergoes marked changes including rapid eye movement, loss of reflexes, and increased pulse rate and brain activity" [MGI:csmith]
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Allelic Composition: Angptl8tm1(KOMP)Vlcg/Angptl8+
Genetic Background: involves: C57BL/6NTac

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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