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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
  • Alliance
    gene page
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:59202085-59276390 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 29.33 cM
  • Mapping Data
    1 experiment
Strain
Comparison
more
  • SNPs within 2kb
    1954 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 Chr1:59201915-59276390 (-)
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, alsin Rho guanine nucleotide exchange factor ALS2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ALS2, alsin Rho guanine nucleotide exchange factor ALS2
  • Synonyms
    ALS2CR6, ALSJ, IAHSP, PLSJ
  • Links
    NCBI Gene ID: 57679
    neXtProt AC: NX_Q96Q42
    UniProt: Q96Q42

  • Chr Location
    2q33.1; chr2:201700267-201782112 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human ALS2 associations

Human Disease Mouse Models
      
IDs
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
less
  • Phenotype Summary
    31 phenotypes from 5 alleles in 5 genetic backgrounds
    2 phenotypes from multigenic genotypes
    28 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
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
neoplasm
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
    76
  • GO References
    11
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
    841
  • Tissues
    43
  • cDNA Data
    15
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026024 Ensembl Gene Model | MGI Sequence Detail 74306 C57BL/6J ±  kb
    transcript ENSMUST00000027178 Ensembl | MGI Sequence Detail 6342 Not Applicable  
    polypeptide ENSMUSP00000027178 Ensembl | MGI Sequence Detail 1651 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 24
      cDNA 16
      Primer pair 7
      Other 1

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGI:1924543
    References
    more
    • Summaries
      All 63
      Developmental Gene Expression 6
      Diseases 3
      Gene Ontology 11
      Phenotypes 28
    • 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:332399 Sato K, et al., Central nervous system specific high molecular weight ALS2/alsin homophilic complex is enriched in mouse brain synaptosomes. Biochem Biophys Res Commun. 2023 Jan 1;638:168-175
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory