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Als2 Gene Detail
Summary
  • Symbol
    Als2
  • Name
    amyotrophic lateral sclerosis 2 (juvenile)
  • Synonyms
    3222402C23Rik, 9430073A21Rik, Als2cr6, Alsin, mKIAA1563
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921268
    NCBI Gene: 74018
  • Gene Overview
    MyGene.info: ALS2
Location & Maps
more
  • Sequence Map
    Chr1:59162926-59237231 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      74306 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    ALS2, ALS2, alsin Rho guanine nucleotide exchange factor
  • Vertebrate Orthologs
    10
  • Human Ortholog
    ALS2, ALS2, alsin Rho guanine nucleotide exchange factor
    Orthology source: HGNC, HomoloGene
  • Synonyms
    ALS2CR6, ALSJ, IAHSP, PLSJ
  • Links
    NCBI Gene ID: 57679
    neXtProt AC: NX_Q96Q42

  • Chr Location
    2q33.1; chr2:201700263-201781172 (-)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 23264
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: ALS2
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Als2 mouse models; 3 with human ALS2 associations

Human Disease Mouse Models
       Amyotrophic Lateral Sclerosis 2, Juvenile; ALS2   OMIM: 205100 View 3 "NOT" models
       Primary Lateral Sclerosis, Juvenile; PLSJ   OMIM: 606353
Spastic Paralysis, Infantile-Onset Ascending; IAHSP   OMIM: 607225
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    31 phenotypes from 5 alleles in 5 genetic backgrounds
    2 phenotypes from multigenic genotypes
    24 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    28
  • Chemically induced (other)
    1
  • Gene trapped
    19
  • Radiation induced
    1
  • Targeted
    7
  • Genomic Mutations
    2 involving Als2
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000021752 VEGA Gene Model | MGI Sequence Detail 74306 C57BL/6J ±  kb
transcript OTTMUST00000051627 VEGA | MGI Sequence Detail 6342 Not Applicable  
polypeptide OTTMUSP00000024337 VEGA | MGI Sequence Detail 1651 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    627 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    cDNA 14
    Other 1

    Microarray probesets 6
Other
Accession IDs
less
MGI:1924543
References
more
  • Summaries
    All 53
    Developmental Gene Expression 4
    Diseases 3
    Gene Ontology 10
    Phenotypes 24
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:229463 Gautam M, et al., Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms. Hum Mol Genet. 2016 Mar 15;25(6):1074-87

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
04/19/2016
MGI 6.03
The Jackson Laboratory