ENSMUSG00000026024


Mus musculus

Features
Gene ID: ENSMUSG00000026024
  
Biological name :Als2
  
Synonyms : Als2 / Alsin / Q920R0
  
Possible biological names infered from orthology : ALS2, alsin Rho guanine nucleotide exchange factor / Q96Q42
  
Species: Mus musculus
  
Chr. number: 1
Strand: -1
Band: C1.3
Gene start: 59162926
Gene end: 59237231
  
Corresponding Affymetrix probe sets: 10354979 (MoGene1.0st)   1417783_at (Mouse Genome 430 2.0 Array)   1417784_at (Mouse Genome 430 2.0 Array)   1431608_at (Mouse Genome 430 2.0 Array)   1446183_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000140990
Ensembl peptide - ENSMUSP00000027178
Ensembl peptide - ENSMUSP00000125753
NCBI entrez gene - 74018     See in Manteia.
MGI - MGI:1921268
RefSeq - NM_001159948
RefSeq - NM_028717
RefSeq Peptide - NP_001153420
RefSeq Peptide - NP_082993
swissprot - A0A087WSC7
swissprot - Q920R0
Ensembl - ENSMUSG00000026024
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 als2aENSDARG00000075111Danio rerio
 als2bENSDARG00000076924Danio rerio
 ALS2ENSGALG00000008415Gallus gallus
 ALS2ENSG00000003393Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Als2cl / ALS2 C-terminal like / Q60I27*ENSMUSG0000004403720
Rsph10b / radial spoke head 10 homolog B (Chlamydomonas) / P0C881* / B2RC85* / RSPH10B2* / radial spoke head 10 homolog B* / radial spoke head 10 homolog B2*ENSMUSG000000755697
Morn1 / MORN repeat containing 1 / Q5T089*ENSMUSG000000290496
Rsph1 / Q8VIG3 / radial spoke head 1 homolog (Chlamydomonas) / Q8WYR4* / radial spoke head 1 homolog*ENSMUSG000000240334
Morn3 / Q8C5T4 / Mus musculus MORN repeat containing 3 (Morn3), transcript variant 2, mRNA. / Q6PF18* / MORN repeat containing 3*ENSMUSG000000294773


Protein motifs (from Interpro)
Interpro ID Name
 IPR000219  Dbl homology (DH) domain
 IPR000408  Regulator of chromosome condensation, RCC1
 IPR003123  VPS9 domain
 IPR003409  MORN motif
 IPR009091  Regulator of chromosome condensation 1/beta-lactamase-inhibitor protein II
 IPR011993  PH-like domain superfamily
 IPR035899  Dbl homology (DH) domain superfamily
 IPR037191  VPS9 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001662 behavioral fear response IMP
 biological_processGO:0001701 in utero embryonic development IEA
 biological_processGO:0001881 receptor recycling IMP
 biological_processGO:0006979 response to oxidative stress IMP
 biological_processGO:0007032 endosome organization ISO
 biological_processGO:0007041 lysosomal transport ISO
 biological_processGO:0007409 axonogenesis IEA
 biological_processGO:0007528 neuromuscular junction development IMP
 biological_processGO:0007626 locomotory behavior IMP
 biological_processGO:0008104 protein localization IMP
 biological_processGO:0008219 cell death IEA
 biological_processGO:0016050 vesicle organization IDA
 biological_processGO:0016197 endosomal transport IMP
 biological_processGO:0016601 Rac protein signal transduction IEA
 biological_processGO:0035023 regulation of Rho protein signal transduction IEA
 biological_processGO:0035249 synaptic transmission, glutamatergic IMP
 biological_processGO:0043087 regulation of GTPase activity IDA
 biological_processGO:0043547 positive regulation of GTPase activity ISS
 biological_processGO:0045860 positive regulation of protein kinase activity ISS
 biological_processGO:0048812 neuron projection morphogenesis ISS
 biological_processGO:0051036 regulation of endosome size ISS
 biological_processGO:0051260 protein homooligomerization ISO
 biological_processGO:0071902 positive regulation of protein serine/threonine kinase activity IEA
 cellular_componentGO:0001726 ruffle IDA
 cellular_componentGO:0005634 nucleus ISO
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005769 early endosome ISO
 cellular_componentGO:0005813 centrosome ISO
 cellular_componentGO:0005829 cytosol ISS
 cellular_componentGO:0014069 postsynaptic density IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030027 lamellipodium IDA
 cellular_componentGO:0030424 axon IEA
 cellular_componentGO:0030425 dendrite ISS
 cellular_componentGO:0030426 growth cone ISS
 cellular_componentGO:0031982 vesicle ISO
 cellular_componentGO:0032991 protein-containing complex ISS
 cellular_componentGO:0043005 neuron projection IEA
 cellular_componentGO:0043025 neuronal cell body IEA
 cellular_componentGO:0043197 dendritic spine IDA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0005085 guanyl-nucleotide exchange factor activity ISO
 molecular_functionGO:0005089 Rho guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0005096 GTPase activator activity ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017112 Rab guanyl-nucleotide exchange factor activity ISS
 molecular_functionGO:0017137 Rab GTPase binding ISO
 molecular_functionGO:0030676 Rac guanyl-nucleotide exchange factor activity ISS
 molecular_functionGO:0042802 identical protein binding ISO
 molecular_functionGO:0042803 protein homodimerization activity ISS
 molecular_functionGO:0043539 protein serine/threonine kinase activator activity ISS
 molecular_functionGO:0048365 Rac GTPase binding ISO


Pathways (from Reactome)
Pathway description
RAB GEFs exchange GTP for GDP on RABs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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: Tg(Otx1-cre)1Eag/0,Wnt3atm2Eag/Wnt3a+
Genetic Background: Not Specified

 MP:0000880 decreased Purkinje cell number "fewer than normal neuronal cells that are located in the interface of the molecular and granular layers of the cerebellar cortex" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:45302]
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Allelic Composition: Tg(Otx1-cre)1Eag/0,Wnt3atm2Eag/Wnt3a+
Genetic Background: Not Specified

 MP:0000937 abnormal motor neuron morphology "malformation or absence of cells that innervate an effector (muscle or glandular) tissue; responsible for transmission of motor impulses" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Klkl/Kl+
Genetic Background: involves: C3H/HeJ * C57BL/6J

 MP:0000939 reduced motor neuron number "fewer than normal numbers of cells that innervate an effector (muscle or glandular) tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Tg(Otx1-cre)1Eag/0,Wnt3atm2Eag/Wnt3a+
Genetic Background: Not Specified

 MP:0000940 abnormal motor neuron innervation "misprojection or failure to bundle motor axons to an effector tissue" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
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Allelic Composition: Tg(Otx1-cre)1Eag/0,Wnt3atm2Eag/Wnt3a+
Genetic Background: Not Specified

 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: Tg(Otx1-cre)1Eag/0,Wnt3atm2Eag/Wnt3a+
Genetic Background: Not Specified

 MP:0001260 increased body weight "greater than normal average weight " [J:33400]
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Allelic Composition: Gria2tm1Rlh/Gria2tm1Rlh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001363 increased anxiety-related response "when compared to controls, subjects exhibit more responses thought to be indicative of anxiety in behavioral tests" [cwg:Carroll-Ann W. Goldsmith, Mouse Genome Informatics curator, J:49752, J:53060]
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Allelic Composition: Gria2tm1Rlh/Gria2tm1Rlh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
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Allelic Composition: Klkl/Kl+
Genetic Background: involves: C3H/HeJ * 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: Gria2tm1Rlh/Gria2tm1Rlh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Allelic Composition: Als2tm1Deng/Als2tm1Deng
Genetic Background: involves: 129/Sv

Allelic Composition: Als2tm1Garo/Als2tm1Garo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

 MP:0001417 decreased exploration in new environment "less amount of time spent investigating a new location" [J:79870]
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Allelic Composition: Gria2tm1Rlh/Gria2tm1Rlh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Als2tm1Deng/Als2tm1Deng
Genetic Background: involves: 129/Sv

 MP:0002229 CNS neurodegeneration "a retrogressive impairment of function or destruction of neural tissue" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Als2tm1Deng/Als2tm1Deng
Genetic Background: involves: 129/Sv

Allelic Composition: Als2tm1Deng/Als2tm1Deng,Tg(SOD1*G93A)1Gur/?
Genetic Background: involves: 129/Sv * C57BL/6 * SJL

 MP:0002804 abnormal motor learning "defects in the ability to repeat a motor task requiring well coordinated movements and balance; measures cerebellar dependent learning" [CFG:Center for Functional Genomics , Northwestern University]
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Allelic Composition: Gria2tm1Rlh/Gria2tm1Rlh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 MP:0002878 abnormal corticospinal tract "anomaly in the structure or function of the fibers that arise from the cells within the cerebral cortex, pass through the medullary pyramid, and descend in the spinal cord" [pvb:Pierre Vanden Borre , Mouse Genome Informatics Curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Als2tm1Deng/Als2tm1Deng
Genetic Background: involves: 129/Sv

Allelic Composition: Als2tm1Garo/Als2tm1Garo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

 MP:0002882 abnormal neuron "anomaly in the functional cells of the nervous system that receive, conduct, and transmit impulses " [MeSH:National Library of Medicine - Medical Subject Headings, 2003]
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Allelic Composition: Klkl/Kl+
Genetic Background: involves: C3H/HeJ * C57BL/6J

 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]
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Allelic Composition: Tg(Otx1-cre)1Eag/0,Wnt3atm2Eag/Wnt3a+
Genetic Background: Not Specified

 MP:0003354 astrocytosis "a proliferation or spread of astrocytes in the area of a degenerative lesion or damaged tissue" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Tg(Otx1-cre)1Eag/0,Wnt3atm2Eag/Wnt3a+
Genetic Background: Not Specified

 MP:0003993 abnormal ventral spinal root morphology "any anomaly, deformity, or malformation of the anterior bundle of nerves emerging from the spinal cord to join with the posterior/dorsal nerve bundle at each spinal cord segment to form one of the 31 paired peripheral nerves" [brs:Beverly Richards-Smith, Mouse Genome Informatics Curator]
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Allelic Composition: Als2tm1Garo/Als2tm1Garo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

 MP:0004262 abnormal physical strength "altered ability of an organism to exert force on physical objects or of the body to support its load" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Als2tm1Garo/Als2tm1Garo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

 MP:0004768 abnormal axonal transport "any functional anomaly of the directed movement of organelles or vesicles along microtubules in nerve cell axons" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Als2tm1Garo/Als2tm1Garo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

 MP:0005402 abnormal action potential "change in the electric response of a nerve or other excitable tissue to its stimulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Tg(Otx1-cre)1Eag/0,Wnt3atm2Eag/Wnt3a+
Genetic Background: Not Specified

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Als2tm1Garo/Als2tm1Garo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * 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]
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Allelic Composition: Als2tm1Garo/Als2tm1Garo
Genetic Background: either: (involves: 129S1/Sv * 129X1/SvJ) or (involves: 129S1/Sv * 129X1/SvJ * C57BL/6)

 MP:0006082 CNS inflammation "local accumulation of fluid, plasma proteins, and leukocytes in the brain and/or spinal cord" [smb:Susan M Bello, Mouse Genome Informatics Curator, ncbi:NCBI request]
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Allelic Composition: Tg(Otx1-cre)1Eag/0,Wnt3atm2Eag/Wnt3a+
Genetic Background: Not Specified

 MP:0008873 increased sensitivity to xenobiotics "decrease in the dose or concentration of a foreign compound required to induce a specific level of response" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Gria2tm1Rlh/Gria2tm1Rlh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

 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: Tg(Otx1-cre)1Eag/0,Wnt3atm2Eag/Wnt3a+
Genetic Background: Not Specified

 MP:0009409 abnormal skeletal muscle fiber type ratio "deviation from the standard ratios of fiber types in a given skeletal muscle compared to control samples" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tg(Otx1-cre)1Eag/0,Wnt3atm2Eag/Wnt3a+
Genetic Background: Not Specified

 MP:0009413 skeletal muscle fiber atrophy "a wasting of skeletal muscle fibers resulting in a derangement of the skeletal muscle fibers; occurs with age, immobilization, weightlessness, malnutrition or denervation" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Tg(Otx1-cre)1Eag/0,Wnt3atm2Eag/Wnt3a+
Genetic Background: Not Specified

 MP:0009766 increased sensitivity to xenobiotic induced morbidity/mortality "decrease in the amount of a foreign compound required to cause death or diseased state" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Gria2tm1Rlh/Gria2tm1Rlh
Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000026024 Als2 / Alsin / Q920R0 / Q96Q42* / ALS2, alsin Rho guanine nucleotide exchange factor*  / complex






 

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