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Aliases for ALS2 Gene

Aliases for ALS2 Gene

  • Amyotrophic Lateral Sclerosis 2 (Juvenile) 2 3
  • Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 6 Protein 3 4
  • Amyotrophic Lateral Sclerosis 2 Protein 3 4
  • ALS2CR6 3 4
  • Alsin 2 3
  • IAHSP 3 6
  • ALSJ 3 6
  • PLSJ 3 6
  • Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 6 2
  • KIAA1563 4

External Ids for ALS2 Gene

Previous Symbols for ALS2 Gene

  • ALS2CR6

Summaries for ALS2 Gene

Entrez Gene Summary for ALS2 Gene

  • The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

GeneCards Summary for ALS2 Gene

ALS2 (Amyotrophic Lateral Sclerosis 2 (Juvenile)) is a Protein Coding gene. Diseases associated with ALS2 include amyotrophic lateral sclerosis 2, juvenile and primary lateral sclerosis, juvenile. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Amyotrophic lateral sclerosis (ALS). GO annotations related to this gene include protein homodimerization activity and guanyl-nucleotide exchange factor activity. An important paralog of this gene is RSPH1.

UniProtKB/Swiss-Prot for ALS2 Gene

  • May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).

Gene Wiki entry for ALS2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALS2 Gene

Genomics for ALS2 Gene

Genomic Location for ALS2 Gene

Start:
201,700,263 bp from pter
End:
201,781,189 bp from pter
Size:
80,927 bases
Orientation:
Minus strand

Genomic View for ALS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ALS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALS2 Gene

Regulatory Elements for ALS2 Gene

Proteins for ALS2 Gene

  • Protein details for ALS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96Q42-ALS2_HUMAN
    Recommended name:
    Alsin
    Protein Accession:
    Q96Q42
    Secondary Accessions:
    • Q53TT1
    • Q53TV2
    • Q8N1E0
    • Q96PC4
    • Q96Q41
    • Q9H973
    • Q9HCK9

    Protein attributes for ALS2 Gene

    Size:
    1657 amino acids
    Molecular mass:
    183634 Da
    Quaternary structure:
    • Forms a heteromeric complex with ALS2CL. Interacts with ALS2CL.
    SequenceCaution:
    • Sequence=BAB13389.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for ALS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALS2 Gene

Proteomics data for ALS2 Gene at MOPED

Post-translational modifications for ALS2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys849

Other Protein References for ALS2 Gene

No data available for DME Specific Peptides for ALS2 Gene

Domains for ALS2 Gene

Gene Families for ALS2 Gene

HGNC:
  • ARHGEF :Rho guanine nucleotide exchange factors

Protein Domains for ALS2 Gene

Graphical View of Domain Structure for InterPro Entry

Q96Q42

UniProtKB/Swiss-Prot:

ALS2_HUMAN
Domain:
  • Contains 1 DH (DBL-homology) domain.:
    • Q96Q42
  • Contains 1 PH domain.:
    • Q96Q42
  • Contains 1 VPS9 domain.:
    • Q96Q42
Similarity:
  • Contains 8 MORN repeats.:
    • Q96Q42
  • Contains 5 RCC1 repeats.:
    • Q96Q42
genes like me logo Genes that share domains with ALS2: view

Function for ALS2 Gene

Molecular function for ALS2 Gene

UniProtKB/Swiss-Prot Function: May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity).

Gene Ontology (GO) - Molecular Function for ALS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005085 contributes_to guanyl-nucleotide exchange factor activity IDA 15247254
GO:0005087 Ran guanyl-nucleotide exchange factor activity NAS 11586298
GO:0005089 Rho guanyl-nucleotide exchange factor activity --
GO:0005515 protein binding IPI 21300063
GO:0017112 Rab guanyl-nucleotide exchange factor activity IDA 12837691
genes like me logo Genes that share ontologies with ALS2: view
genes like me logo Genes that share phenotypes with ALS2: view

Animal Models for ALS2 Gene

MGI Knock Outs for ALS2:

miRNA for ALS2 Gene

miRTarBase miRNAs that target ALS2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ALS2 Gene

Localization for ALS2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ALS2 Gene COMPARTMENTS Subcellular localization image for ALS2 gene
Compartment Confidence
cytoskeleton 5
cytosol 5
endosome 5
nucleus 3
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for ALS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle ISS --
GO:0005737 cytoplasm --
GO:0005769 early endosome IDA 12837691
GO:0005813 centrosome IDA 16085057
GO:0005829 cytosol IDA 12837691
genes like me logo Genes that share ontologies with ALS2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ALS2 Gene

Pathways for ALS2 Gene

genes like me logo Genes that share pathways with ALS2: view

Pathways by source for ALS2 Gene

1 BioSystems pathway for ALS2 Gene
1 KEGG pathway for ALS2 Gene

Gene Ontology (GO) - Biological Process for ALS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001662 behavioral fear response IEA --
GO:0001881 receptor recycling IEA --
GO:0006979 response to oxidative stress IEA --
GO:0007032 endosome organization NAS 12837691
GO:0007528 neuromuscular junction development IEA --
genes like me logo Genes that share ontologies with ALS2: view

Compounds for ALS2 Gene

(2) Novoseek inferred chemical compound relationships for ALS2 Gene

Compound -log(P) Hits PubMed IDs
guanine 37.4 3
superoxide 10.1 2
genes like me logo Genes that share compounds with ALS2: view

Transcripts for ALS2 Gene

Unigene Clusters for ALS2 Gene

Amyotrophic lateral sclerosis 2 (juvenile):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ALS2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c · 7d ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^
SP1: - - - - -
SP2: - - - -
SP3: - -
SP4: -
SP5: - - -
SP6: - -
SP7: - - - - -

ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for ALS2 Gene

GeneLoc Exon Structure for
ALS2
ECgene alternative splicing isoforms for
ALS2

Expression for ALS2 Gene

mRNA expression in normal human tissues for ALS2 Gene

mRNA differential expression in normal tissues according to GTEx for ALS2 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (8.7) and Brain - Cerebellum (7.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ALS2 Gene

SOURCE GeneReport for Unigene cluster for ALS2 Gene Hs.471096

genes like me logo Genes that share expressions with ALS2: view

No data available for mRNA Expression by UniProt/SwissProt for ALS2 Gene

Orthologs for ALS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ALS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALS2 35
  • 99.68 (n)
  • 99.76 (a)
ALS2 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ALS2 35
  • 91.04 (n)
  • 94.14 (a)
ALS2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ALS2 35
  • 92.57 (n)
  • 95.17 (a)
ALS2 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Als2 35
  • 87.18 (n)
  • 92.31 (a)
Als2 16
Als2 36
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALS2 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ALS2 36
  • 88 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Als2 35
  • 87.36 (n)
  • 91.7 (a)
chicken
(Gallus gallus)
Aves ALS2 35
  • 76.48 (n)
  • 81.4 (a)
ALS2 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALS2 36
  • 78 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia als2 35
  • 68.71 (n)
  • 70.31 (a)
zebrafish
(Danio rerio)
Actinopterygii als2a 36
  • 60 (a)
OneToMany
als2b 35
  • 62.01 (n)
  • 63 (a)
als2b 36
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG7158 36
  • 23 (a)
OneToMany
CG7158 37
  • 27 (a)
Species with no ortholog for ALS2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ALS2 Gene

ENSEMBL:
Gene Tree for ALS2 (if available)
TreeFam:
Gene Tree for ALS2 (if available)

Paralogs for ALS2 Gene

Paralogs for ALS2 Gene

Selected SIMAP similar genes for ALS2 Gene using alignment to 6 proteins:

Pseudogenes.org Pseudogenes for ALS2 Gene

genes like me logo Genes that share paralogs with ALS2: view

Variants for ALS2 Gene

Sequence variations from dbSNP and Humsavar for ALS2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type MAF
rs11300 -- 201,700,847(-) TCAGT(A/G)TTTTG utr-variant-3-prime
rs193606 -- 201,779,942(-) CATTT(C/T)CCCCC intron-variant
rs193607 -- 201,774,475(-) CAGGG(C/T)GGGAT intron-variant
rs714320 -- 201,734,265(+) AGCCC(A/G)GAAGT intron-variant
rs970595 -- 201,772,188(-) TGTGT(A/G)TCCAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ALS2 Gene

Variant ID Type Subtype PubMed ID
nsv524548 CNV Gain 19592680
nsv875710 CNV Gain 21882294
esv2664768 CNV Deletion 23128226
esv1240932 CNV Insertion 17803354
esv269995 CNV Insertion 20981092
esv273927 CNV Insertion 20981092
nsv834511 CNV Loss 17160897

Relevant External Links for ALS2 Gene

HapMap Linkage Disequilibrium report
ALS2
Human Gene Mutation Database (HGMD)
ALS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALS2 Gene

Disorders for ALS2 Gene

(3) OMIM Diseases for ALS2 Gene (606352)

UniProtKB/Swiss-Prot

ALS2_HUMAN
  • Amyotrophic lateral sclerosis 2 (ALS2) [MIM:205100]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:11586298}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Juvenile primary lateral sclerosis (JPLS) [MIM:606353]: A neurodegenerative disorder which is closely related to but clinically distinct from amyotrophic lateral sclerosis. It is a progressive paralytic disorder which results from dysfunction of the upper motor neurons while the lower neurons are unaffected. {ECO:0000269 PubMed:11586297}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Infantile-onset ascending spastic paralysis (IAHSP) [MIM:607225]: Characterized by progressive spasticity and weakness of limbs. {ECO:0000269 PubMed:12145748}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for ALS2 Gene

(11) Novoseek inferred disease relationships for ALS2 Gene

Disease -log(P) Hits PubMed IDs
iahsp 98.7 11
spastic paralysis 94.9 8
primary lateral sclerosis 92.2 7
amyotrophic lateral sclerosis 86.7 19
other motor neuron diseases 84.4 1

Relevant External Links for ALS2

GeneTests
ALS2
GeneReviews
ALS2
Genetic Association Database (GAD)
ALS2
Human Genome Epidemiology (HuGE) Navigator
ALS2
genes like me logo Genes that share disorders with ALS2: view

Publications for ALS2 Gene

  1. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. (PMID: 12145748) Eymard-Pierre E. … Boespflug-Tanguy O. (Am. J. Hum. Genet. 2002) 3 4 23 48
  2. Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis. (PMID: 12866199) Nagano I. … Abe K. (Neurol. Res. 2003) 3 23 48
  3. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. (PMID: 11586297) Yang Y. … Siddique T. (Nat. Genet. 2001) 3 4 23
  4. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PMID: 11586298) Hadano S. … Ikeda J.-E. (Nat. Genet. 2001) 2 3 4
  5. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T. … Ohara O. (DNA Res. 2000) 3 4

Products for ALS2 Gene

Sources for ALS2 Gene

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