Gene

Als2

Species
Mus musculus
Symbol
Als2
Name
alsin Rho guanine nucleotide exchange factor
Synonyms
  • 3222402C23Rik
  • 9430073A21Rik
Biotype
protein coding gene
Automated Description
Predicted to enable several functions, including GTPase regulator activity; protein homodimerization activity; and small GTPase binding activity. Involved in regulation of postsynaptic membrane neurotransmitter receptor levels. Acts upstream of or within several processes, including behavioral fear response; glutamatergic synaptic transmission; and neuromuscular junction development. Located in several cellular components, including centrosome; lamellipodium; and ruffle. Is active in glutamatergic synapse and postsynaptic density. Is expressed in several structures, including central nervous system; genitourinary system; hemolymphoid system; liver; and retina. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis and amyotrophic lateral sclerosis type 2. Orthologous to human ALS2 (alsin Rho guanine nucleotide exchange factor ALS2).
MGI Description
PHENOTYPE: Homozygous null mutations in this gene may result in increased body weight, altered endosome trafficking, modest motor behavioral abnormalities, altered anxiety responses, impaired axonal transport, and mild neurolopathogical deficits including axonal degeneration in the corticospinal tract. [provided by MGI curators]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR46089
No data available
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

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    Disease Associations

    Cases where the expected disease association was NOT found
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      Alleles and Variants

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        Transgenic Alleles

        Species
        (carrying the transgene)
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          Models

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            Sequence Feature Viewer

            Genome location
            Assembly version
            GRCm39
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            59.21M59.22M59.23M59.24M59.25M59.26M59.27M

            Sequence Details

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            Expression

            Primary Sources
            Other Sources
            Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

            Molecular Interactions

            Als2 molecule type
            Interactor gene
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              Genetic Interactions

              Als2 role
              Als2 genetic perturbation
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