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Als2 Gene Detail
Summary
  • Symbol
    Als2
  • Name
    alsin Rho guanine nucleotide exchange factor
  • Synonyms
    3222402C23Rik, 9430073A21Rik, Als2cr6, Alsin, mKIAA1563
  • Feature Type
    protein coding gene
  • IDs
    MGI:1921268
    NCBI Gene: 74018
  • Gene Overview
    MyGene.info: ALS2
  • Alliance
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:59162926-59237231 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 29.33 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    627 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1921268
protein coding gene Chr1:59162756-59237231 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016064
protein coding gene Chr1:59111237-59189125 (-)
A/J MGP_AJ_G0016047
protein coding gene Chr1:57057222-57133923 (-)
AKR/J MGP_AKRJ_G0016003
protein coding gene Chr1:58654287-58733146 (-)
BALB/cJ MGP_BALBcJ_G0016002
protein coding gene Chr1:57099074-57175200 (-)
C3H/HeJ MGP_C3HHeJ_G0015834
protein coding gene Chr1:58898675-58976241 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016455
protein coding gene Chr1:61448493-61536759 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014176
protein coding gene Chr1:52882811-52954661 (-)
CAST/EiJ MGP_CASTEiJ_G0015416
protein coding gene Chr1:58038033-58119759 (-)
CBA/J MGP_CBAJ_G0015806
protein coding gene Chr1:63364169-63453475 (-)
DBA/2J MGP_DBA2J_G0015907
protein coding gene Chr1:56481421-56557180 (-)
FVB/NJ MGP_FVBNJ_G0015909
protein coding gene Chr1:55786968-55863113 (-)
LP/J MGP_LPJ_G0015979
protein coding gene Chr1:59991137-60073787 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0015929
protein coding gene Chr1:66299348-66375349 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016502
protein coding gene Chr1:58562693-58637775 (-)
PWK/PhJ MGP_PWKPhJ_G0015203
protein coding gene Chr1:55822506-55899673 (-)
SPRET/EiJ MGP_SPRETEiJ_G0014983
protein coding gene Chr1:58086374-58170072 (-)
WSB/EiJ MGP_WSBEiJ_G0015479
protein coding gene Chr1:58266550-58343798 (-)



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: HomoloGene, HGNC
  • Synonyms
    ALS2CR6, ALSJ, IAHSP, PLSJ
  • Links
    NCBI Gene ID: 57679
    neXtProt AC: NX_Q96Q42
    UniProt: Q96Q42

  • Chr Location
    2q33.1; chr2:201700263-201781172 (-)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 3 "NOT" models
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
    25 phenotype references
Phenotype Overview

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

Click cells to view annotations.
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
less
  • All GO Annotations
  • GO References
Molecular Function

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

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026024 Ensembl Gene Model | MGI Sequence Detail 74306 C57BL/6J ±  kb
    transcript ENSMUST00000163058 Ensembl | MGI Sequence Detail 5379 Not Applicable  
    polypeptide ENSMUSP00000125753 Ensembl | MGI Sequence Detail 1651 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 15
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1924543
    References
    more
    • Summaries
      All 59
      Developmental Gene Expression 4
      Diseases 3
      Gene Ontology 10
      Phenotypes 25
    • Earliest
      J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
    • Latest
      J:237955 Hadano S, et al., Functional links between SQSTM1 and ALS2 in the pathogenesis of ALS: cumulative impact on the protection against mutant SOD1-mediated motor dysfunction in mice. Hum Mol Genet. 2016 Aug 01;25(15):3321-3340

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    11/13/2018
    MGI 6.13
    The Jackson Laboratory