ENSMUSG00000067889


Mus musculus

Features
Gene ID: ENSMUSG00000067889
  
Biological name :Sptbn2
  
Synonyms : spectrin beta, non-erythrocytic 2 / Sptbn2
  
Possible biological names infered from orthology : O15020
  
Species: Mus musculus
  
Chr. number: 19
Strand: 1
Band: A
Gene start: 4711208
Gene end: 4752353
  
Corresponding Affymetrix probe sets: 10460423 (MoGene1.0st)   1452269_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000008991
NCBI entrez gene - 20743     See in Manteia.
MGI - MGI:1313261
RefSeq - XM_006531705
RefSeq - NM_021287
RefSeq - XM_006531703
RefSeq - XM_006531704
RefSeq Peptide - NP_067262
swissprot - Q68FG2
Ensembl - ENSMUSG00000067889
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sptbn2ENSDARG00000053956Danio rerio
 O15020ENSG00000173898Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q62261 / Sptbn1 / Spectrin beta chain, non-erythrocytic 1 / Q01082* / spectrin beta, non-erythrocytic 1*ENSMUSG0000002031562
Sptb / spectrin beta, erythrocytic / P11277*ENSMUSG0000002106151
Sptbn4 / spectrin beta, non-erythrocytic 4 / Q9H254*ENSMUSG0000001175147
P16546 / Sptan1 / Spectrin alpha chain, non-erythrocytic 1 / Q13813* / spectrin alpha, non-erythrocytic 1*ENSMUSG0000005773822
Spta1 / P08032 / Spectrin alpha chain, erythrocytic 1 / P02549* / spectrin alpha, erythrocytic 1*ENSMUSG0000002653221
Actn4 / P57780 / Alpha-actinin-4 / O43707* / actinin alpha 4*ENSMUSG0000005480811
Actn2 / Q9JI91 / Alpha-actinin-2 / P35609* / actinin alpha 2*ENSMUSG0000005237411
Actn1 / Q7TPR4 / Mus musculus actinin, alpha 1 (Actn1), transcript variant 2, mRNA. / P12814* / actinin alpha 1*ENSMUSG0000001514311
Actn3 / O88990 / Alpha-actinin-3 / Q08043* / actinin alpha 3 (gene/pseudogene)*ENSMUSG0000000645711


Protein motifs (from Interpro)
Interpro ID Name
 IPR001589  Actinin-type actin-binding domain, conserved site
 IPR001605  Pleckstrin homology domain, spectrin-type
 IPR001715  Calponin homology domain
 IPR001849  Pleckstrin homology domain
 IPR002017  Spectrin repeat
 IPR011993  PH-like domain superfamily
 IPR016343  Spectrin, beta subunit
 IPR018159  Spectrin/alpha-actinin
 IPR036872  CH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007010 cytoskeleton organization IEA
 biological_processGO:0007416 synapse assembly IMP
 biological_processGO:0016192 vesicle-mediated transport IEA
 biological_processGO:0021692 cerebellar Purkinje cell layer morphogenesis IMP
 biological_processGO:0030534 adult behavior IMP
 biological_processGO:0035264 multicellular organism growth IMP
 biological_processGO:0051693 actin filament capping IEA
 cellular_componentGO:0001917 photoreceptor inner segment ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005829 cytosol IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane ISO
 cellular_componentGO:0008091 spectrin ISO
 cellular_componentGO:0016324 apical plasma membrane IDA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0043025 neuronal cell body IDA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005200 structural constituent of cytoskeleton IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0005543 phospholipid binding IEA
 molecular_functionGO:0045296 cadherin binding IEA


Pathways (from Reactome)
Pathway description
MHC class II antigen presentation
NCAM signaling for neurite out-growth
Interaction between L1 and Ankyrins
RAF/MAP kinase cascade
COPI-mediated anterograde transport


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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]
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Allelic Composition: Bicc1jcpk-67Gso/Bicc1jcpk-67Gso,T(2;10)67Gso/T(2;10)67Gso
Genetic Background: involves: 101/Rl * C3H/Rl * C57BL10a/E * SEC/RlGso

 MP:0000876 Purkinje cell degeneration "a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex" [J:46854]
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Allelic Composition: Bicc1jcpk-67Gso/Bicc1jcpk-67Gso,T(2;10)67Gso/T(2;10)67Gso
Genetic Background: involves: 101/Rl * C3H/Rl * C57BL10a/E * SEC/RlGso

 MP:0000877 abnormal Purkinje cell "any structural anomaly of the neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex; these inhibitory neurons provide the output of the cerebellar cortex through axons that project into the white matter, and extensive dendritic trees from the Purkinje cells extend upward in a single plane into the molecular layer where they synapse with parallel fibers of granule cells" [J:46140, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
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Allelic Composition: Sptbn2Gt(XK442)Byg/Sptbn2Gt(XK442)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000889 abnormal cerebellar molecular layer "any malformation or absence of the outermost layer of the cerebral cortex that contains the parallel fibers of the granule cells, interneurons such as stellate and basket cells, and the dendrites of the underlying Purkinje cells" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:38857]
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Allelic Composition: Sptbn2Gt(XK442)Byg/Sptbn2Gt(XK442)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0000890 thin cerebellar molecular layer "reduced width of the outer of the three cortical layers of the cerebellum" [J:46854]
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Allelic Composition: Sptbn2Gt(XK442)Byg/Sptbn2Gt(XK442)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
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Allelic Composition: Cntnap1shm-4J/Cntnap1shm-4J
Genetic Background: involves: C3H/HeDiSn * Swiss stock

 MP:0001393 ataxia "inability to coordinate voluntary muscular movements" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:67231]
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Allelic Composition: Bicc1jcpk-67Gso/Bicc1jcpk-67Gso,T(2;10)67Gso/T(2;10)67Gso
Genetic Background: involves: 101/Rl * C3H/Rl * C57BL10a/E * SEC/RlGso

Allelic Composition: Sptbn2Gt(XK442)Byg/Sptbn2Gt(XK442)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 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: Bicc1jcpk-67Gso/Bicc1jcpk-67Gso,T(2;10)67Gso/T(2;10)67Gso
Genetic Background: involves: 101/Rl * C3H/Rl * C57BL10a/E * SEC/RlGso

Allelic Composition: Sptbn2Gt(XK442)Byg/Sptbn2+
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0001406 abnormal gait "unusual or distinctive way of walking" [J:65038]
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Allelic Composition: Bicc1jcpk-67Gso/Bicc1jcpk-67Gso,T(2;10)67Gso/T(2;10)67Gso
Genetic Background: involves: 101/Rl * C3H/Rl * C57BL10a/E * SEC/RlGso

 MP:0001525 impaired balance "reduced ability of an animal to maintain equilibrium" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:64962, J:17123]
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Allelic Composition: Bicc1jcpk-67Gso/Bicc1jcpk-67Gso,T(2;10)67Gso/T(2;10)67Gso
Genetic Background: involves: 101/Rl * C3H/Rl * C57BL10a/E * SEC/RlGso

 MP:0002272 abnormal nervous system electrophysiology "anomaly in the function of the nervous system as it relates to electrical phenomena" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bicc1jcpk-67Gso/Bicc1jcpk-67Gso,T(2;10)67Gso/T(2;10)67Gso
Genetic Background: involves: 101/Rl * C3H/Rl * C57BL10a/E * SEC/RlGso

 MP:0002764 short tibia " reduced length of the medial and larger bone of the lower leg" [J:12736, pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator]
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Allelic Composition: Spns2tm1b(KOMP)Wtsi/Spns2tm1b(KOMP)Wtsi
Genetic Background: B6Brd;B6Dnk;B6N-Tyrc-Brd-Spns2tm1b(KOMP)Wtsi/WtsiH

 MP:0003020 decreased circulating chloride level "reduced concentration of chlorine salts in the circulation" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Spns2tm1b(KOMP)Wtsi/Spns2tm1b(KOMP)Wtsi
Genetic Background: B6Brd;B6Dnk;B6N-Tyrc-Brd-Spns2tm1b(KOMP)Wtsi/WtsiH

 MP:0003996 clonic seizures "increased number or decreased threshold for the induction of a seizure characterized by unilateral or bilateral rhythmic jerking movements of the arms and legs caused by alternating contraction and relaxation of muscle" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Sptbn2Gt(XK442)Byg/Sptbn2Gt(XK442)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0008572 abnormal Purkinje cell dendrite morphology "any strucutral anomaly of the Purkinje cell body projections with hundreds of parallel spiny branches reaching up into the molecular layer" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Sptbn2Gt(XK442)Byg/Sptbn2Gt(XK442)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6J

 MP:0011269 increased excitatory postsynaptic current amplitude "increase in the size (height or maximum displacement) of the evoked excitatory postsynaptic current wave" [MGI:csmith]
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Allelic Composition: Bicc1jcpk-67Gso/Bicc1jcpk-67Gso,T(2;10)67Gso/T(2;10)67Gso
Genetic Background: involves: 101/Rl * C3H/Rl * C57BL10a/E * SEC/RlGso

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000020315 Q62261 / Sptbn1 / Spectrin beta chain, non-erythrocytic 1 / Q01082* / spectrin beta, non-erythrocytic 1*  / complex
 ENSMUSG00000032826 Ank2 / Q8C8R3 / Ankyrin-2 / Q01484*  / complex / reaction
 ENSMUSG00000021061 Sptb / spectrin beta, erythrocytic / P11277*  / complex
 ENSMUSG00000031543 Ank1 / Q02357 / Ankyrin-1 / P16157*  / complex / reaction
 ENSMUSG00000067889 Sptbn2 / spectrin beta, non-erythrocytic 2 / O15020*  / complex
 ENSMUSG00000059923 Grb2 / Q60631 / Growth factor receptor-bound protein 2 / P62993*  / reaction / complex
 ENSMUSG00000011751 Sptbn4 / spectrin beta, non-erythrocytic 4 / Q9H254*  / complex
 ENSMUSG00000026532 Spta1 / P08032 / Spectrin alpha chain, erythrocytic 1 / P02549* / spectrin alpha, erythrocytic 1*  / complex
 ENSMUSG00000027303 Ptpra / P18052 / protein tyrosine phosphatase, receptor type, A / P18433*  / complex
 ENSMUSG00000062825 Actg1 / P63260 / Actin, cytoplasmic 2 Actin, cytoplasmic 2, N-terminally processed / P63261* / actin gamma 1*  / complex
 ENSMUSG00000024241 Sos1 / Q62245 / Son of sevenless homolog 1 / Q07889* / SOS Ras/Rac guanine nucleotide exchange factor 1*  / reaction / complex
 ENSMUSG00000057738 P16546 / Sptan1 / Spectrin alpha chain, non-erythrocytic 1 / Q13813* / spectrin alpha, non-erythrocytic 1*  / complex
 ENSMUSG00000019843 Fyn / P39688 / Tyrosine-protein kinase Fyn / P06241* / FYN proto-oncogene, Src family tyrosine kinase*  / complex
 ENSMUSG00000029580 Actb / P60710 / Actin, cytoplasmic 1 Actin, cytoplasmic 1, N-terminally processed / POTEJ* / P60709* / P0CG39* / actin beta* / POTE ankyrin domain family member J*  / complex
 ENSMUSG00000022607 Ptk2 / P34152 / PTK2 protein tyrosine kinase 2 / Q05397* / protein tyrosine kinase 2*  / complex






 

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