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ATXN2L Gene

protein-coding   GIFtS: 55
GCID: GC16P028834

Ataxin 2-Like

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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
Ataxin 2-Like1 2     A2LP2 3
A2D2 3 5     A2RP2 3
Ataxin-2 Domain Protein2 3     Ataxin 2 Related Protein2
Ataxin-2-Related Protein2 3     Ataxin-2-Like Protein2
A2LG2 3     

External Ids:    HGNC: 313261   Entrez Gene: 112732   Ensembl: ENSG000001684887   OMIM: 6079315   UniProtKB: Q8WWM73   

Export aliases for ATXN2L gene to outside databases

Previous GC identifers: GC16P028741 GC16P026701


(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 ATXN2L Gene:
This gene encodes an ataxin type 2 related protein of unknown function. This protein is a member of the
spinocerebellar ataxia (SCAs) family, which is associated with a complex group of neurodegenerative disorders.
Several alternatively spliced transcripts encoding different isoforms have been found for this gene. (provided by
RefSeq, Jul 2008)

GeneCards Summary for ATXN2L Gene:
ATXN2L (ataxin 2-like) is a protein-coding gene. An important paralog of this gene is ATXN2.

Gene Wiki entry for ATXN2L 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 at NCBI GenBank:
NC_000016.9  NT_187260.1  NC_018927.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ATXN2L gene promoter:
         E2F-4   E2F-3a   Sox5   E2F-5   FOXD3   E2F-2   Egr-2   HEN1   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATXN2L promoter sequence
   Search Chromatin IP Primers for ATXN2L

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ATXN2L


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

Entrez Gene cytogenetic band: 16p11   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11

ATXN2L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATXN2L gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P028834:  view genomic region     (about GC identifiers)

Start:
28,834,356 bp from pter      End:
28,848,558 bp from pter
Size:
14,203 bases      Orientation:
plus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ATX2L_HUMAN, Q8WWM7 (See protein sequence)
Recommended Name: Ataxin-2-like protein  
Size: 1075 amino acids; 113374 Da
Subunit: Interacts with MPL/TPOR and EPOR and dissociates after ligand stimulation
Sequence caution: Sequence=AAC69607.1; Type=Frameshift; Positions=31, 429, 432, 446; Sequence=AAO12056.1;
Type=Frameshift; Positions=Several; Sequence=AAO12057.1; Type=Frameshift; Positions=Several; Sequence=AAO12058.1;
Type=Frameshift; Positions=Several; Sequence=AAO12058.1; Type=Miscellaneous discrepancy; Note=Exon duplication;
Sequence=AAO12059.1; Type=Frameshift; Positions=Several; Sequence=AAO12059.1; Type=Miscellaneous discrepancy;
Note=Exon duplication; Sequence=AAO12060.1; Type=Frameshift; Positions=Several; Sequence=AAO12060.1;
Type=Miscellaneous discrepancy; Note=Exon duplication;
Secondary accessions: A8K1R6 B9EGM2 E9PAR9 O95135 Q63ZY4 Q6NVJ8 Q6PJW6 Q8IU61 Q8IU95 Q8WWM3
Q8WWM4 Q8WWM5 Q8WWM6 Q99703
Alternative splicing: 9 isoforms:  Q8WWM7-1   Q8WWM7-2   Q8WWM7-3   Q8WWM7-4   Q8WWM7-5   Q8WWM7-6   Q8WWM7-7   Q8WWM7-8   
Q8WWM7-9   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATXN2L: NX_Q8WWM7

Explore proteomics data for ATXN2L at MOPED

Post-translational modifications: 

  • Thrombopoietin triggers the phosphorylation on tyrosine residues in a way that is dependent on MPL C-terminal
    domain1
  • Arg-361 is dimethylated, probably to asymmetric dimethylarginine1
  • Ubiquitination2 at Lys106, Lys207, Lys507
  • Modification sites at PhosphoSitePlus

  • See ATXN2L Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_009176.2  NP_059867.3  NP_663760.1  NP_680780.1  NP_680781.1  NP_680782.1  

    ENSEMBL proteins: 
     ENSP00000341459   ENSP00000315650   ENSP00000378917   ENSP00000338718   ENSP00000372133  
     ENSP00000457613   ENSP00000454516   ENSP00000456752   ENSP00000456812   ENSP00000457599  
     ENSP00000456162   ENSP00000454757   ENSP00000454588   ENSP00000455981   ENSP00000455427  
     ENSP00000455560  

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    antibodies-online antibodies for ATXN2L (26 products) 

    ATXN2L Assay Products:

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    antibodies-online kits for ATXN2L (4 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR009818 Ataxin-2_C
     IPR009604 LsmAD_domain
     IPR025852 SM_dom_ATX

    Graphical View of Domain Structure for InterPro Entry Q8WWM7

    ProtoNet protein and cluster: Q8WWM7

    2 Blocks protein domains:
    IPB009604 Ataxin-2
    IPB009818 Ataxin-2


    UniProtKB/Swiss-Prot: ATX2L_HUMAN, Q8WWM7
    Similarity: Belongs to the ataxin-2 family


    Find genes that share domains with ATXN2L           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005515protein binding IPI11784712
    GO:0044822poly(A) RNA binding IDA--
         
    Find genes that share ontologies with ATXN2L           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ATXN2L

    miRNA
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    miRTarBase miRNAs that target ATXN2L:
    hsa-mir-324-5p (MIRT043087), hsa-let-7a-5p (MIRT052632), hsa-mir-326 (MIRT043652), hsa-mir-26b-5p (MIRT030105), hsa-mir-324-3p (MIRT042988), hsa-mir-34a-5p (MIRT025212), hsa-mir-760 (MIRT036758), hsa-mir-744-5p (MIRT037491), hsa-mir-18a-3p (MIRT040952), hsa-let-7b-5p (MIRT051974), hsa-mir-92a-3p (MIRT049467), hsa-mir-16-5p (MIRT031977), hsa-let-7e-5p (MIRT051554), hsa-mir-421 (MIRT039381), hsa-mir-124-3p (MIRT023136), hsa-let-7f-5p (MIRT051389), hsa-mir-1301-3p (MIRT036019)

    Block miRNA regulation of human, mouse, rat ATXN2L using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ATXN2L (see all 17):
    hsa-miR-548j hsa-miR-548i hsa-miR-766 hsa-miR-548a-5p hsa-miR-548d-5p hsa-miR-569 hsa-miR-548w hsa-miR-559
    SwitchGear 3'UTR luciferase reporter plasmidATXN2L 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATXN2L

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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN2L


    (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 UniProtKB/Swiss-Prot
    ATX2L_HUMAN, Q8WWM7: Membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0010494cytoplasmic stress granule IDA--
    GO:0016020membrane IDA11784712
    GO:0016607nuclear speck IDA--

    Find genes that share ontologies with ATXN2L           About GenesLikeMe


    (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 ATXN2L
    Interactions:

        Search GeneGlobe Interaction Network for ATXN2L

    Selected Interacting proteins for ATXN2L (Q8WWM71, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3MINT-2869696 MINT-2869677 I2D: score=3 
    EPORP192351, 3EBI-948363,EBI-617321 I2D: score=3 
    G3BP1Q132831, 3EBI-948363,EBI-1047359 I2D: score=2 
    G3BP2Q9UN863I2D: score=2 
    MAPK14Q165393I2D: score=2 
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010603regulation of cytoplasmic mRNA processing body assembly IDA--
    GO:0034063stress granule assembly IMP--

    Find genes that share ontologies with ATXN2L           About GenesLikeMe



    (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 ATXN2L (ATX2L)



    (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 ATXN2L gene (6 alternative transcripts): 
    NM_007245.3  NM_017492.3  NM_145714.2  NM_148414.2  NM_148415.2  NM_148416.2  

    Unigene Cluster for ATXN2L:

    Ataxin 2-like
    Hs.460499  [show with all ESTs]
    Unigene Representative Sequence: AY188338
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 26):
    ENST00000563314(uc002drg.3) ENST00000340394(uc002dra.3) ENST00000325215
    ENST00000395547(uc002dqy.3 uc002drb.3 uc010vdb.2 uc002dre.3)
    ENST00000336783(uc002drc.3) ENST00000382686(uc010byl.1 uc002dqz.3)
    ENST00000564304 ENST00000570200 ENST00000562867 ENST00000568266 ENST00000564656
    ENST00000561539 ENST00000566080 ENST00000565971(uc002drf.3) ENST00000570284
    ENST00000564284 ENST00000565845 ENST00000562583
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ATXN2L (see all 17):
    hsa-miR-548j hsa-miR-548i hsa-miR-766 hsa-miR-548a-5p hsa-miR-548d-5p hsa-miR-569 hsa-miR-548w hsa-miR-559
    SwitchGear 3'UTR luciferase reporter plasmidATXN2L 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ATXN2L
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      QuantiTect SYBR Green Assays in human, mouse, rat ATXN2L
      QuantiFast Probe-based Assays in human, mouse, rat ATXN2L

    Additional mRNA sequence: 

    AF070605.1 AJ317970.1 AJ317971.2 AJ317972.2 AJ317973.2 AJ317974.2 AK289981.1 AL137587.1 
    AY188334.1 AY188335.1 AY188336.1 AY188337.1 AY188338.1 BC010239.2 BC068012.1 BC082760.1 
    BC136584.1 BC144269.1 U70671.1 

    Selected DOTS entries (see all 35):

    DT.95087964  DT.100819527  DT.448504  DT.86855040  DT.102843674  DT.95226494  DT.100059552  DT.102843677 
    DT.91963213  DT.97848817  DT.100819548  DT.120696106  DT.100059543  DT.92448175  DT.100819531  DT.95226589 
    DT.120698104  DT.75155177  DT.120695726  DT.120696691  DT.120696028  DT.40294896  DT.95277367  DT.100692100 

    Selected AceView cDNA sequences (see all 417):

    BM541819 BE384336 CA952736 CN480132 BQ017451 CA455370 BQ058513 BQ548613 
    BX092100 AW163308 BE513821 BQ186144 AA323163 AI095194 BM757117 BU682501 
    BQ223699 BQ286124 AW608627 BM723589 AI201255 CA975990 BE276160 AA858406 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ATXN2L (see all 16)    About this scheme

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

    ExUns: 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23 ^ 24 ^ 25a · 25b · 25c ^ 26a · 26b ^ 27a · 27b
    SP1:                                                                                                                  
    SP2:                                                                                                                  
    SP3:                                                                                                                  
    SP4:                                                                                                                  
    SP5:                                      -                 -                                                         


    ECgene alternative splicing isoforms for ATXN2L

    (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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    ATXN2L expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGTGGAGGGA
    ATXN2L Expression
    About this image


    ATXN2L expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Testis (Reproductive System)
     
     Lymph (Hematopoietic System)
     
     Spleen (Hematopoietic System)
    ATXN2L Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ATXN2L Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.460499

    UniProtKB/Swiss-Prot: ATX2L_HUMAN, Q8WWM7
    Tissue specificity: Expressed at high levels in thymus, lymph node, spleen, fetal kidney and adult testis.
    Constitutively associated with MPL and EPOR in hematopoietic cells

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN2L

    (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 and fungi.

    Orthologs for ATXN2L gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atxn2l1 , 5 ataxin 2-like1, 5 88.88(n)1
    94.62(a)1
      7 (69.09 cM)5
    2338711  NM_183020.11  NP_898841.11 
     1264917085 
    lizard
    (Anolis carolinensis)
    Reptilia ATXN2L6
    ataxin 2-like
    76(a)
    1 ↔ 1
    GL343287.1(403003-418281)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.140452 Xenopus laevis transcribed sequence with weak similarity more 77.04(n)    CA793895.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufi19h052 Danio rerio cDNA clone MGC66471 IMAGE2601096, complete more 72.28(n)    BC057536.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Atx26
    Ataxin-2
    15(a)
    1 → many
    3R(11234158-11242999)
    worm
    (Caenorhabditis elegans)
    Secernentea atx-26
    Protein ATX-2, isoform c (atx-2) mRNA, complete cd...
    17(a)
    1 → many
    III(10461389-10468050) WBGene00000231
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes PBP16
    Component of glucose deprivation induced stress gr...
    17(a)
    1 → many
    VII(851047-853215) YGR178C


    ENSEMBL Gene Tree for ATXN2L (if available)
    TreeFam Gene Tree for ATXN2L (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ATXN2L gene
    ATXN22  
    1 SIMAP similar gene for ATXN2L using alignment to 10 protein entries:     ATX2L_HUMAN (see all proteins):
    ATXN2

    Find genes that share paralogs with ATXN2L           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ATXN2L
    PGOHUM00000232600


    (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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    8 SNPs for ATXN2L    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2008029161,2
    --26702205(+) CAACAA/GGCCGT 12 Q syn10--------
    rs11401311,2
    C,F--26702331(+) GTGGCC/TGCTGC 12 A syn1 ese32Minor allele frequency- T:0.00NA 4
    rs2001059181,2
    ----26702180(+) CCAGCC/TCCAGC 12 P L mis11Minor allele frequency- T:0.00EU 435
    rs3714602521,2
    ----26702214(+) GTGGCC/TCGTCG 12 A syn10--------
    rs3751199881,2
    ----26702170(+) AACAGC/TCCTCC 12 P S mis10--------
    rs3686139511,2
    ----26702190(+) CAGCCG/TCCCCC 12 P syn10--------
    rs3688327171,2
    ----26702199(+) CCCACA/GCAACA 12 T syn10--------
    rs3728292161,2
    ----26702194(+) CGCCCA/CCCACG 12 T P mis10--------

    HapMap Linkage Disequilibrium report for ATXN2L (28834356 - 28848558 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ATXN2L (see all 11):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv905700CNV Loss21882294
    esv26988CNV Loss19812545
    nsv905701CNV Loss21882294
    nsv905703CNV Loss21882294
    nsv518648CNV Loss19592680
    nsv905698CNV Gain21882294
    nsv519100CNV Gain19592680
    nsv905702CNV Gain+Loss21882294
    dgv842e1CNV Complex17122850
    dgv844e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ATXN2L
    DNA2.0 Custom Variant and Variant Library Synthesis for ATXN2L

    (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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    OMIM gene information: 607931    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for ATXN2L:
    Spinocerebellar ataxia

    Find genes that share disorders with ATXN2L           About GenesLikeMe

    Genetic Association Database (GAD): ATXN2L
    Human Genome Epidemiology (HuGE) Navigator: ATXN2L (1 document)

    Export disorders for ATXN2L 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 ATXN2L gene, integrated from 10 sources (see all 53):
    (articles sorted by number of sources associating them with ATXN2L)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and expression of the gene for human ataxin-2-related protein on chromosome 16. (PubMed id 14769358)1, 2, 3, 9 Figueroa K.P. and Pulst S.M. (Exp. Neurol. 2003)
    2. Cloning and characterization of a family of proteins associated with Mpl. (PubMed id 11784712)1, 2, 3, 9 Meunier C.F....Courtois G. (J. Biol. Chem. 2002)
    3. Association between genome-wide association studies reported SNPs and pediatric-onset Crohn's disease in Canadian children. (PubMed id 20473688)1, 4 Amre D.K....Levy E. (Hum. Genet. 2010)
    4. Common variants at five new loci associated with early-onset inflammatory bowel disease. (PubMed id 19915574)1, 4 Imielinski M....Hakonarson H. (Nat. Genet. 2009)
    5. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    7. Robust phosphoproteomic profiling of tyrosine phosphorylation sites from human T cells using immobilized metal affinity chromatography and tandem mass spectrometry. (PubMed id 15144186)1, 2 Brill L.M....Peters E.C. (Anal. Chem. 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. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. (PubMed id 8896555)1, 2 Pulst S.-M....Sahba S. (Nat. Genet. 1996)
    10. A Proteomics Strategy for the Identification of FAT10-Modified Sites by Mass Spectrometry. (PubMed id 23862649)1 Leng L....Wang J. (J. Proteome Res. 2014)

    (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: 11273 HGNC: 31326 AceView: ATXN2L Ensembl:ENSG00000168488 euGenes: HUgn11273
    ECgene: ATXN2L H-InvDB: ATXN2L

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for ATXN2L 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 ATXN2L gene:
    Search GeneIP for patents involving ATXN2L

    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, eBioscience, antibodies-online, 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
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