Als2
Gene Detail

Symbol Name ID

Als2 amyotrophic lateral sclerosis 2 (juvenile) MGI:1921268

Synonyms

3222402C23Rik, 9430073A21Rik, Als2cr6, Alsin, mKIAA1563

Feature Type

protein coding gene

Genetic Map

Chromosome 1

29.33 cM
Detailed Genetic Map ± 1 cM


Mapping data(1)

Sequence Map

Chr1:59162926-59237231 bp, - strand From VEGA annotation of GRCm38   74306 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:23264  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Als2

Human homologs

Human Homolog		ALS2, amyotrophic lateral sclerosis 2 (juvenile)
NCBI Gene ID		57679
neXtProt AC		NX_Q96Q42
Human Synonyms		ALS2CR6, ALSJ, IAHSP, PLSJ
Human Chr (Location)		2q33.1; chr2:202564986-202645895 (-)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human ALS2

Alleles and phenotypes

All alleles(26) : Targeted(7) Gene trapped(19)
 

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

All GO classifications: (61 annotations)

Process	axonogenesis, behavioral fear response, ...
Component	axon, centrosome, ...
Function	guanyl-nucleotide exchange factor activity, identical protein binding, ...

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

Literature Summary: (4 records)
Data Summary: Results (84)    Tissues (32)    Images (32)
Theiler Stages: 17, 19, 23, 28

Assay Type	Results
RNA in situ	84

cDNA source data(126)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress

Molecular reagents

All nucleic(128) cDNA(127) Other(1)
Microarray probesets(6)

Other database links

VEGA Gene Model	OTTMUSG00000021752 (Evidence)
Ensembl Gene Model	ENSMUSG00000026024 (Evidence)
Entrez Gene	74018 (Evidence)
UniGene	272078
Consensus CDS Project	CCDS35583.1
International Mouse Knockout Project Status	Als2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000021752	VEGA Gene Model | MGI Sequence Detail	74306	C57BL/6J
transcript	OTTMUST00000051628	VEGA | MGI Sequence Detail	5379	Not Applicable
polypeptide	OTTMUSP00000024338	VEGA | MGI Sequence Detail	1651	Not Applicable

All sequences(41) RefSeq(6) UniProt(2)

Polymorphisms

SNPs(569 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR000219	Dbl homology (DH) domain
InterPro	IPR003409	MORN motif
InterPro	IPR001849	Pleckstrin homology domain
InterPro	IPR011993	Pleckstrin homology-like domain
InterPro	IPR009091	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II
InterPro	IPR000408	Regulator of chromosome condensation, RCC1
InterPro	IPR003123	Vacuolar sorting protein 9
Protein Ontology	PR:000003971	alsin

References

(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:190122 Cobanoglu G, et al., Are alsin and spartin novel interaction partners?. Biochem Biophys Res Commun. 2012 Oct 12;427(1):1-4
All references(54)

Other accession IDs

MGI:1924543