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ALS2CR11 Gene

protein-coding   GIFtS: 45
GCID: GC02M202352

Amyotrophic Lateral Sclerosis 2 (Juvenile) Chromosome Region,...

  See ALS2CR11-related disease
at  

(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) Chromosome Region, Candidate
111 2
Amyotrophic Lateral Sclerosis 2 Chromosomal Region Candidate Gene 11
Protein2

External Ids:    HGNC: 144381   Entrez Gene: 1512542   Ensembl: ENSG000001557547   UniProtKB: Q53TS83   

Export aliases for ALS2CR11 gene to outside databases

Previous GC identifers: GC00U990889 GC02U900708 GC02M202178 GC02M202060 GC02M194200


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for ALS2CR11 Gene:
ALS2CR11 (amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11) is a protein-coding gene. Diseases associated with ALS2CR11 include amyotrophic lateral sclerosis.


(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 at NCBI GenBank:
NC_000002.11  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALS2CR11 gene promoter:
         c-Fos   E2F-3a   E2F-4   E2F-5   AML1a   AP-1   E2F-2   E2F-1   E2F   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALS2CR11 promoter sequence
   Search Chromatin IP Primers for ALS2CR11

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ALS2CR11


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

ALS2CR11 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ALS2CR11 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M202352:  view genomic region     (about GC identifiers)

Start:
202,352,144 bp from pter      End:
202,483,905 bp from pter
Size:
131,762 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: AL2SA_HUMAN, Q53TS8 (See protein sequence)
Recommended Name: Amyotrophic lateral sclerosis 2 chromosomal region candidate gene 11 protein  
Size: 623 amino acids; 71159 Da
Secondary accessions: C9IZH7 E9PGG4 Q8NCN6 Q96LN4
Alternative splicing: 4 isoforms:  Q53TS8-1   Q53TS8-2   Q53TS8-3   Q53TS8-4   (No experimental confirmation available. Ref.2 (BX648732) sequence is in conflict in positions: 698:M->T, 1039:C->G, 1559:M->I)

Explore the universe of human proteins at neXtProt for ALS2CR11: NX_Q53TS8

Explore proteomics data for ALS2CR11 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ALS2CR11 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (4 alternative transcripts): 
    NP_001161688.1  NP_001161689.1  NP_001161693.1  NP_689738.3  

    ENSEMBL proteins: 
     ENSP00000286195   ENSP00000400672   ENSP00000409937   ENSP00000399016  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR000008 C2_dom

    Graphical View of Domain Structure for InterPro Entry Q53TS8

    ProtoNet protein and cluster: Q53TS8


    Find genes that share domains with ALS2CR11           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with ALS2CR11           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ALS2CR11:
     Decreased TP53 protein express 

    Animal Models:
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    hsa-miR-182* hsa-miR-522 hsa-miR-889 hsa-miR-628-5p hsa-miR-224*
    SwitchGear 3'UTR luciferase reporter plasmidALS2CR11 3' UTR sequence
    Inhib. RNA
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    (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
    nucleus3
    cytosol2

    (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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ALS2CR11
    Interactions:

        Search GeneGlobe Interaction Network for ALS2CR11

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for ALS2CR11 (Q53TS83 ENSP000002861954) via UniProtKB, MINT, STRING, and/or I2D (see all 6)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CCDC85BQ158343, ENSP000003116954I2D: score=3 STRING: ENSP00000311695
    TEX11Q8IYF33, ENSP000003409954I2D: score=3 STRING: ENSP00000340995
    VIMP086703, ENSP000002242374I2D: score=3 STRING: ENSP00000224237
    SSSCA1O602323, ENSP000003123184I2D: score=3 STRING: ENSP00000312318
    MCM6Q145663, ENSP000002641564I2D: score=3 STRING: ENSP00000264156
    About this table

    (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 ALS2CR11 (AL2SA)



    (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,
    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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ALS2CR11 gene (4 alternative transcripts): 
    NM_001168216.1  NM_001168217.1  NM_001168221.1  NM_152525.5  

    Unigene Cluster for ALS2CR11:

    Amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11
    Hs.335788  [show with all ESTs]
    Unigene Representative Sequence: NM_001168221
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000286195(uc002uye.3 uc010fti.3) ENST00000439802 ENST00000439140(uc002uyf.3)
    ENST00000482942 ENST00000450242(uc021vvc.1)
    miRNA
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    5 qRT-PCR Assays for microRNAs that regulate ALS2CR11:
    hsa-miR-182* hsa-miR-522 hsa-miR-889 hsa-miR-628-5p hsa-miR-224*
    SwitchGear 3'UTR luciferase reporter plasmidALS2CR11 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ALS2CR11
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat ALS2CR11
      QuantiFast Probe-based Assays in human, mouse, rat ALS2CR11

    Additional mRNA sequence: 

    AB053313.1 AK058080.1 AK097651.1 AL833429.1 BC030659.2 BX648732.1 

    6 DOTS entries:

    DT.91701247  DT.40297734  DT.92064946  DT.100699546  DT.75188036  DT.99947065 

    Selected AceView cDNA sequences (see all 36):

    AB053313 AA759348 AA363900 AA770079 NM_152525 BC030659 AW665940 AA889115 
    BI827874 AL703973 BI561171 BF979697 BG773299 AK058080 BE502681 BG701187 
    BP369257 AI023682 AK097651 BP369914 CD244566 AL833429 BG723906 BX648732 

    GeneLoc Exon Structure


    (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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    ALS2CR11 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAGACAGAA
    ALS2CR11 Expression
    About this image

    ALS2CR11 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALS2CR11 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.335788
        Custom PCR Arrays for ALS2CR11
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    In Situ
    Assay Products:
     

     
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    (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 human and mouse.

    Orthologs for ALS2CR11 gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Als2cr115
    LOC1026365541
    amyotrophic lateral sclerosis 2 (juvenile) chromosome more5
    uncharacterized LOC1026365541
    73.48(n)1
    56.77(a)1
      1 (29.20 cM)5
    1026365541  XM_006496390.11  XP_006496453.11 
     590505065 


    ENSEMBL Gene Tree for ALS2CR11 (if available)
    TreeFam Gene Tree for ALS2CR11 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (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 ALS2CR11 (see all 2473)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0357874
    A colorectal cancer sample4--see VAR_0357872 K M mis40--------
    rs1844507351,2
    C--201740811(+) ATCACA/GCCCAG 2 -- int10--------
    rs1894422281,2
    --201740891(+) TCCATC/TCACCT 2 -- int10--------
    rs775801831,2
    C--201740975(+) GGCTGA/CACACA 2 -- int10--------
    rs800144191,2
    C,F--201741176(+) ATGAAC/TAAAAA 2 -- int11Minor allele frequency- T:0.10WA 118
    rs1857190541,2
    --201741332(+) GGCCTC/GACATA 2 -- ut310--------
    rs341382501,2
    C,F--201741416(+) TTGGCC/TGCATT 3 Q R mis1 ut313Minor allele frequency- T:0.00NA EU 5911
    rs1381388051,2
    C--201741417(+) TGGCCG/ACATTT 3 /R /W mis1 ut311Minor allele frequency- A:0.00NA 4546
    rs1389260581,2
    C,F--201741441(+) ATCTGA/GTGTTT 3 P S mis1 ut312Minor allele frequency- G:0.00NA EU 5871
    rs1174200671,2
    C,F--201741486(+) TCGACG/AACTTG 3 /R /C mis1 ut312Minor allele frequency- A:0.00EA NA 4670

    HapMap Linkage Disequilibrium report for ALS2CR11 (202352144 - 202483905 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ALS2CR11:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2658936CNV Deletion23128226
    nsv3111CNV Insertion18451855
    nsv507063CNV Insertion20534489
    esv24012CNV Loss19812545

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ALS2CR11
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    1 disease for ALS2CR11:    
    About MalaCards
    amyotrophic lateral sclerosis


    Find genes that share disorders with ALS2CR11           About GenesLikeMe


    Export disorders for ALS2CR11 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 ALS2CR11 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with ALS2CR11)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W.... Wilson R.K. (Nature 2005)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. (PubMed id 11586298)1, 3 Hadano S....Ikeda J.-E. (Nat. Genet. 2001)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    6. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    7. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (Nature 2005)
    8. Gene expression profile of human bone marrow stromal cells: high-throughput expressed sequence tag sequencing analysis. (PubMed id 11827452)1 Jia L....Francomano C.A. (Genomics 2002)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 151254 HGNC: 14438 AceView: FLJ25351 Ensembl:ENSG00000155754 euGenes: HUgn151254
    ECgene: ALS2CR11 H-InvDB: ALS2CR11

    (According to HUGE)
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      --

    (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 ALS2CR11 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ALS2CR11 gene:
    Search GeneIP for patents involving ALS2CR11

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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