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ALS2 Gene

protein-coding   GIFtS: 63
GCID: GC02M202564

Amyotrophic Lateral Sclerosis 2 (Juvenile)

(Previous names: amyotrophic lateral sclerosis 2 (juvenile) chromosome region,...)
(Previous symbol: ALS2CR6)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Amyotrophic Lateral Sclerosis 2 (Juvenile)1 2     ALSJ2 5
ALS2CR61 2 3     IAHSP2 5
alsin1 2     PLSJ2 5
Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 6
Protein2 3
     Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region, Candidate 61
Amyotrophic Lateral Sclerosis 2 Protein2 3     KIAA15633

External Ids:    HGNC: 4431   Entrez Gene: 576792   Ensembl: ENSG000000033937   OMIM: 6063525   UniProtKB: Q96Q423   

Export aliases for ALS2 gene to outside databases

Previous GC identifers: GC02M200782 GC02M201289 GC02M202529 GC02M202767 GC02M202390 GC02M202273 GC02M194413


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 juvenile primary lateral sclerosis, and amyotrophic lateral sclerosis 2, juvenile. GO annotations related to this gene include protein homodimerization activity and guanyl-nucleotide exchange factor activity. An important paralog of this gene is RSPH10B2.

UniProtKB/Swiss-Prot: ALS2_HUMAN, Q96Q42
Function: May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity)

Gene Wiki entry for ALS2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALS2 gene promoter:
         AhR   Sp1   Pax-5   SREBP-1c   SREBP-1b   Arnt   AREB6   HEN1   SREBP-1a   COMP1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALS2 promoter sequence
   Search Chromatin IP Primers for ALS2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALS2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q33.1   Ensembl cytogenetic band:  2q33.1   HGNC cytogenetic band: 2q33-q35

ALS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALS2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M202564:  view genomic region     (about GC identifiers)

Start:
202,564,986 bp from pter      End:
202,645,912 bp from pter
Size:
80,927 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ALS2_HUMAN, Q96Q42 (See protein sequence)
Recommended Name: Alsin  
Size: 1657 amino acids; 183634 Da
Subunit: Forms a heteromeric complex with ALS2CL. Interacts with ALS2CL
Sequence caution: Sequence=BAB13389.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: Q53TT1 Q53TV2 Q8N1E0 Q96PC4 Q96Q41 Q9H973 Q9HCK9
Alternative splicing: 3 isoforms:  Q96Q42-1   Q96Q42-2   Q96Q42-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ALS2: NX_Q96Q42

Explore proteomics data for ALS2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys849
  • Modification sites at PhosphoSitePlus

  • See ALS2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001129217.1  NP_065970.2  

    ENSEMBL proteins: 
     ENSP00000264276   ENSP00000403832   ENSP00000429223   ENSP00000386384   ENSP00000386948  
     ENSP00000394823  

    ALS2 Human Recombinant Protein Products:

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    Novus Biologicals ALS2 Protein
    Novus Biologicals ALS2 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ALS2

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    ALS2 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for ALS2
    Cloud-Clone Corp. CLIAs for ALS2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ARHGEF: Rho guanine nucleotide exchange factors

    Selected InterPro protein domains (see all 7):
     IPR000219 DH-domain
     IPR003123 VPS9
     IPR001849 Pleckstrin_homology
     IPR009091 RCC1/BLIP-II
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q96Q42

    ProtoNet protein and cluster: Q96Q42

    2 Blocks protein domains:
    IPB000219 DH domain
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: ALS2_HUMAN, Q96Q42
    Similarity: Contains 1 DH (DBL-homology) domain
    Similarity: Contains 8 MORN repeats
    Similarity: Contains 1 PH domain
    Similarity: Contains 5 RCC1 repeats
    Similarity: Contains 1 VPS9 domain


    ALS2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALS2_HUMAN, Q96Q42
    Function: May act as a GTPase regulator. Controls survival and growth of spinal motoneurons (By similarity)

         Gene Ontology (GO): Selected molecular function terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005085contributes to guanyl-nucleotide exchange factor activity IDA15247254
    GO:0005087Ran guanyl-nucleotide exchange factor activity NAS11586298
    GO:0005089Rho guanyl-nucleotide exchange factor activity ----
    GO:0005515protein binding IPI--
    GO:0017112Rab guanyl-nucleotide exchange factor activity IDA12837691
         
    ALS2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ALS2:
     Decreased nuclei size in G2M 

         7 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Als2):
     behavior/neurological  growth/size/body  homeostasis/metabolism  immune system  mortality/aging 
     muscle  nervous system 

    ALS2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for ALS2: Als2tm1Garo Als2tm1Jei Als2tm1Deng

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ALS2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ALS2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ALS2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ALS2

    miRNA
    Products:
        
    miRTarBase miRNAs that target ALS2:
    hsa-mir-34a-5p (MIRT047362), hsa-mir-93-3p (MIRT038866), hsa-mir-1229-3p (MIRT036325)

    Block miRNA regulation of human, mouse, rat ALS2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ALS2 (see all 38):
    hsa-miR-323-3p hsa-miR-142-5p hsa-miR-548j hsa-miR-548k hsa-miR-548l hsa-miR-548a-5p hsa-miR-548d-5p hsa-miR-509-3-5p
    SwitchGear 3'UTR luciferase reporter plasmidALS2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for ALS2
    Predesigned siRNA for gene silencing in human, mouse, rat ALS2

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for ALS2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ALS2 (NM_006498)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALS2

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ALS2 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALS2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    endosome5
    nucleus3
    lysosome1
    vacuole1

    Gene Ontology (GO): Selected cellular component terms (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001726ruffle ISS--
    GO:0005737cytoplasm ----
    GO:0005769early endosome IDA12837691
    GO:0005813centrosome IDA16085057
    GO:0005829cytosol IDA12837691

    ALS2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ALS2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Amyotrophic lateral sclerosis (ALS)
    Amyotrophic lateral sclerosis (ALS)0.63
    Amyotrophic lateral sclerosis (ALS)0.63

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for ALS2
        Amyotrophic lateral sclerosis (ALS)


    1 Kegg Pathway  (Kegg details for ALS2):
        Amyotrophic lateral sclerosis (ALS)


    ALS2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALS2
    Interactions:

        GeneGlobe Interaction Network for ALS2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    Selected Interacting proteins for ALS2 (Q96Q421, 2, 3 ENSP000002642764) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    YWHABP319462, 3, ENSP000003001614MINT-50977 I2D: score=4 STRING: ENSP00000300161
    EEA1Q150752, 3, ENSP000003179554MINT-8088118 MINT-8088105 MINT-8088090 I2D: score=1 STRING: ENSP00000317955
    RAB5AP203391, 2, 3, ENSP000002730474EBI-1044902,EBI-399437 MINT-8088056 MINT-8088071 I2D: score=1 STRING: ENSP00000273047
    RAC1P630002, 3, ENSP000003484614MINT-8088042 I2D: score=1 STRING: ENSP00000348461
    SQSTM1Q135013I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 24):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001662behavioral fear response IEA--
    GO:0001701in utero embryonic development ----
    GO:0001881receptor recycling IEA--
    GO:0006979response to oxidative stress IEA--
    GO:0007032endosome organization NAS12837691

    ALS2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ALS2

    2 Novoseek inferred chemical compound relationships for ALS2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    guanine 37.4 3 14668431 (1), 16718699 (1), 15579468 (1)
    superoxide 10.1 2 14753659 (1), 18026741 (1)



    ALS2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ALS2 gene (2 alternative transcripts): 
    NM_001135745.1  NM_020919.3  

    Unigene Cluster for ALS2:

    Amyotrophic lateral sclerosis 2 (juvenile)
    Hs.471096  [show with all ESTs]
    Unigene Representative Sequence: NM_020919
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264276(uc010ftl.3 uc002uyo.3) ENST00000439495 ENST00000489440
    ENST00000482891(uc002uyp.4) ENST00000494017 ENST00000483703 ENST00000482789(uc002uyq.3)
    ENST00000467448(uc002uyr.3) ENST00000496244 ENST00000409632 ENST00000410052
    ENST00000462747 ENST00000457679

    miRNA
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    Block miRNA regulation of human, mouse, rat ALS2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ALS2 (see all 38):
    hsa-miR-323-3p hsa-miR-142-5p hsa-miR-548j hsa-miR-548k hsa-miR-548l hsa-miR-548a-5p hsa-miR-548d-5p hsa-miR-509-3-5p
    SwitchGear 3'UTR luciferase reporter plasmidALS2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ALS2
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    OriGene ORF clones in mouse, rat for ALS2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ALS2 (NM_006498)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALS2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALS2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for ALS2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ALS2
      QuantiTect SYBR Green Assays in human, mouse, rat ALS2
      QuantiFast Probe-based Assays in human, mouse, rat ALS2

    Additional mRNA sequence: 

    AB046783.2 AB053305.1 AB053306.1 AF391100.1 AK023024.1 AK056413.1 AK291029.1 BC029174.1 
    BC071576.1 

    10 DOTS entries:

    DT.115018  DT.70104313  DT.97763446  DT.100781815  DT.91953092  DT.95166512  DT.100024081  DT.40111923 
    DT.97843582  DT.99931074 

    Selected AceView cDNA sequences (see all 134):

    AF391100 AB046783 AK023024 AA828013 AA804214 AA814077 AI561364 BX093645 
    AB053305 AA255499 AI287595 AI686227 BM978733 AU125528 AI273643 BP349944 
    BU681518 BU164048 N26018 BU741596 AA459575 AI565204 NM_020919 AB053306 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ALS2 (see all 7)    About this scheme

    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:                          -                             -     -                                                                                             

    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:                                                                                                                        


    ECgene alternative splicing isoforms for ALS2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ALS2 expression in normal human tissues (normalized intensities)      ALS2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ALS2 Expression
    About this image


    ALS2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Brain (Nervous System)    fully expand to see all 17 entries
             Thalamus
             cerebellum   
    ALS2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALS2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.471096
        Custom PCR Arrays for ALS2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALS2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ALS2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Als21 , 5 amyotrophic lateral sclerosis 2 (juvenile) homolog more5
    amyotrophic lateral sclerosis 2 (juvenile)1
    87.18(n)1
    92.31(a)1
      1 (29.33 cM)5
    740181  NM_001159948.21  NP_001153420.21 
     591629265 
    chicken
    (Gallus gallus)
    Aves ALS21 amyotrophic lateral sclerosis 2 (juvenile) 76.48(n)
    81.4(a)
      424085  XM_421940.4  XP_421940.2 
    lizard
    (Anolis carolinensis)
    Reptilia ALS26
    amyotrophic lateral sclerosis 2 (juvenile)
    78(a)
    1 ↔ 1
    GL343478.1(68858-136570)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia als21 amyotrophic lateral sclerosis 2 (juvenile) 68.71(n)
    70.31(a)
      779575  XM_004917756.1  XP_004917813.1 
    zebrafish
    (Danio rerio)
    Actinopterygii als2b1 amyotrophic lateral sclerosis 2b (juvenile) 62.01(n)
    63(a)
      100318899  XM_002662296.3  XP_002662342.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG71583   -- 27(a)   78E3   --


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALS2 gene
    RSPH10B22  RSPH10B2  MORN12  ALS2CL2  RSPH12  MORN32  
    5 SIMAP similar genes for ALS2 using alignment to 6 protein entries:     ALS2_HUMAN (see all proteins):
    MORN4    LOC118812    MORN2    ALS2CL    FLJ00189

    ALS2 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ALS2
    PGOHUM00000234910


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ALS2 (see all 1779)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219081371,2
    Cpathogenic1201980663(-) GGCTAC/TGAGCT 2 R * stg10--------
    rs1219081391,2
    Cpathogenic1201998094(-) AATCTC/TAGATT 2 Q * stg10--------
    rs1219081381,2
    Cpathogenic1202015332(-) GGCGTA/GTGGCG 4 Y C mis10--------
    rs1469577441,2
    C--194426487(+) GTGAG-/TATTT 
            
    TATAA
    1 -- int10--------
    rs566595051,2
    C--194426490(+) AGTAT-/TTTAT 
            
    AATAG
    1 -- int10--------
    rs1133177201,2
    C--194480766(+) ATACA-/A/AA  
            
    AAAAA
    2 -- int11CSA 2
    rs1503390111,2
    --201953606(+) GGAAGA/CATCCA 1 -- ds50010--------
    rs1449484741,2
    --201953769(+) ACCCCC/TGCCCA 1 -- ds50010--------
    rs1143450661,2
    F--201953884(+) ATAAAC/TGGATT 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs1889872461,2
    --201953998(+) AATATC/TTAACG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for ALS2 (202564986 - 202645912 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for ALS2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2664768CNV Deletion23128226
    esv273927CNV Insertion20981092
    esv269995CNV Insertion20981092
    esv1240932CNV Insertion17803354
    nsv834511CNV Loss17160897
    nsv875710CNV Gain21882294
    nsv524548CNV Gain19592680

    Human Gene Mutation Database (HGMD): ALS2
    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ALS2
    DNA2.0 Custom Variant and Variant Library Synthesis for ALS2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606352   
    OMIM disorders: 205100  606353  607225  
    UniProtKB/Swiss-Prot: ALS2_HUMAN, Q96Q42
  • 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.
    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. 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20 diseases for ALS2:    About MalaCards
    juvenile primary lateral sclerosis    amyotrophic lateral sclerosis 2, juvenile    als2-related disorders    infantile-onset ascending hereditary spastic paralysis
    amyotrophic lateral sclerosis type 2    lateral sclerosis    motor neuron disease    amyotrophic lateral sclerosis-parkinsonism/dementia complex
    spasticity    was-related disorders    amyotrophic lateral sclerosis    paraplegia
    dementia    mental retardation    multiple sclerosis    neuronitis
    endotheliitis    multiple myeloma    myeloma    cerebritis

    3 diseases from the University of Copenhagen DISEASES database for ALS2:
    Lateral sclerosis     Amyotrophic lateral sclerosis     Paraplegia

    ALS2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for ALS2 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    iahsp 98.7 12 18810511 (2), 16718699 (2), 18523452 (2), 16670179 (1) (see all 8)
    spastic paralysis 94.9 8 16718699 (2), 16670179 (1), 14668431 (1), 19304783 (1) (see all 7)
    primary lateral sclerosis 92.2 8 12601111 (1), 14668431 (1), 19122027 (1), 19304783 (1) (see all 7)
    amyotrophic lateral sclerosis 86.7 22 12866199 (2), 14676054 (2), 11586297 (1), 16670179 (1) (see all 17)
    other motor neuron diseases 84.4 2 15651293 (1)
    motor neuron disease 84.2 12 14668431 (2), 17409386 (2), 12837691 (2), 18810511 (1) (see all 6)
    spastic paraplegia hereditary 80 4 16670179 (1), 14676054 (1), 12837691 (1), 12919135 (1)
    spastic paraplegia 69.5 2 12145748 (1), 12919135 (1)
    neurodegenerative diseases 55.7 3 16473593 (1), 19304783 (1), 17981578 (1)
    neurodegeneration 49.3 6 16670179 (1), 14753659 (1), 15651293 (1), 17093100 (1) (see all 5)

    GeneTests: ALS2
    GeneReviews: ALS2
    Genetic Association Database (GAD): ALS2
    Human Genome Epidemiology (HuGE) Navigator: ALS2 (3 documents)

    Export disorders for ALS2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ALS2 gene, integrated from 10 sources (see all 77):
    (articles sorted by number of sources associating them with ALS2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene. (PubMed id 12145748)1, 2, 4, 9 Eymard-Pierre E.... Boespflug-Tanguy O. (Am. J. Hum. Genet. 2002)
    2. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PubMed id 11586298)1, 2, 3 Hadano S....Ikeda J.-E. (Nat. Genet. 2001)
    3. Single-nucleotide polymorphisms in uncoding regions of ALS2 gene of Japanese patients with autosomal-recessive amyotrophic lateral sclerosis. (PubMed id 12866199)1, 4, 9 Nagano I....Abe K. (Neurol. Res. 2003)
    4. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. (PubMed id 11586297)1, 2, 9 Yang Y.... Siddique T. (Nat. Genet. 2001)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. ALS2CL, a novel ALS2-interactor, modulates ALS2-mediated endosome dynamics. (PubMed id 17239822)1, 2 Suzuki-Utsunomiya K.... Ikeda J.-E. (Biochem. Biophys. Res. Commun. 2007)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    10. 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. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 57679 HGNC: 443 AceView: ALS2 Ensembl:ENSG00000003393 euGenes: HUgn57679
    ECgene: ALS2 Kegg: 57679 H-InvDB: ALS2

    (According to HUGE)
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    HUGE: KIAA1563

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ALS2 Pharmacogenomics, SNPs, Pathways
    Alsodhttp://alsod.iop.kcl.ac.uk/Als/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALS2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALS2 gene:
    Search GeneIP for patents involving ALS2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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