Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ATXN10 Gene

protein-coding   GIFtS: 54
GCID: GC22P046067

ataxin 10

(Previous name: spinocerebellar ataxia 10 )
(Previous symbol: SCA10)
 Explore 10 diseases affiliated with
ATXN10 via our new
 Human Malady Compendium 
Biological research products
for ATXN10
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Ataxin 101 2     FLJ379901
SCA101 2 3 5     Spinocerebellar Ataxia 101
E46L1 2     HUMEEP2
Brain Protein E46 Homolog2 3     Ataxin-101
Spinocerebellar Ataxia Type 10 Protein2 3     

External Ids:    HGNC: 105491   Entrez Gene: 258142   Ensembl: ENSG000001306387   OMIM: 6111505   UniProtKB: Q9UBB43   

Export aliases for ATXN10 gene to outside databases

Previous GC identifers: GC22P044388 GC22P029013


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATXN10:
This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These
roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of a
pentanucleotide repeat in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10.
Alternatively spliced transcript variants have been described.(provided by RefSeq, Nov 2009)

UniProtKB/Swiss-Prot: ATX10_HUMAN, Q9UBB4
Function: Necessary for the survival of cerebellar neurons (By similarity). Induces neuritogenesis by activating the
Ras-MAP kinase pathway (By similarity). May play a role in the maintenance of a critical intracellular glycosylation
level and homeostasis (By similarity)

Gene Wiki entry for ATXN10


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011520.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ATXN10 gene promoter:
         MEF-2A   Bach1   TBP   AML1a   aMEF-2   CUTL1   Nkx5-1   FOXL1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidATXN10 promoter sequence
   Search SABiosciences Chromatin IP Primers for ATXN10

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN10


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

Entrez Gene cytogenetic band: 22q13.31   Ensembl cytogenetic band:  22q13.31   HGNC cytogenetic band: 22q13

ATXN10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATXN10 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P046067:  view genomic region     (about GC identifiers)

Start:
46,067,678 bp from pter      End:
46,241,187 bp from pter
Size:
173,510 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ATX10_HUMAN, Q9UBB4 (See protein sequence)
Recommended Name: Ataxin-10  
Size: 475 amino acids; 53489 Da
Subunit: Homooligomer (By similarity). Interacts with OGT (By similarity). Interacts with GNB2. Interacts with IQCB1
Subcellular location: Cytoplasm, perinuclear region
Secondary accessions: A6NLC4 B4DG05 O14998 O15009 Q6I9X4
Alternative splicing: 2 isoforms:  Q9UBB4-1   Q9UBB4-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATXN10: NX_Q9UBB4

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9UBB4

  • ATXN10 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001161093.1  NP_037368.1  

    ENSEMBL proteins: 
     ENSP00000252934   ENSP00000391117   ENSP00000414080   ENSP00000385624   ENSP00000370449  

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein: ATXN10
    OriGene Protein Over-expression Lysate (see all 2): ATXN10
    OriGene Custom Protein Services for ATXN10 
    GenScript Custom Purified and Recombinant Proteins Services for ATXN10
    Novus Biologicals ATXN10 Protein
    Novus Biologicals ATXN10 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ATXN10

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol IEA--
    GO:0030425dendrite IDA15201271
    GO:0043025neuronal cell body IDA15201271
    GO:0048471perinuclear region of cytoplasm IDA16498633


    ATXN10 for ontologies           About GeneDecksing



    ATXN10 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for ATXN10 
    GenScript Custom Superior Antibodies Services for ATXN10
    Novus Biologicals ATXN10 Antibodies
    Search for Antibodies for ATXN10 at Abcam  
    Uscn Antibodies for ATXN10
    ThermoFisher Antibodies for ATXN10

    Assay Products for ATXN10: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ATXN10
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for ATXN10


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ATXN10 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR011989 ARM-like
     IPR016024 ARM-type_fold
     IPR019156 Ataxin-10_domain

    Graphical View of Domain Structure for InterPro Entry Q9UBB4

    ProtoNet protein and cluster: Q9UBB4

    UniProtKB/Swiss-Prot: ATX10_HUMAN, Q9UBB4
    Similarity: Belongs to the ataxin-10 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ATX10_HUMAN, Q9UBB4
    Function: Necessary for the survival of cerebellar neurons (By similarity). Induces neuritogenesis by activating the
    Ras-MAP kinase pathway (By similarity). May play a role in the maintenance of a critical intracellular glycosylation
    level and homeostasis (By similarity)

    miRNA
    Products:
        
    OriGene 3'-UTR Clone: ATXN10
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATXN10
    8/43 QIAGEN miScript miRNA Assays for microRNAs that regulate ATXN10 (see all 43):
    hsa-miR-582-3p hsa-miR-2052 hsa-miR-4307 hsa-miR-19b-2* hsa-miR-3655 hsa-miR-25 hsa-miR-128 hsa-miR-16-1*
    SwitchGear 3'UTR luciferase reporter plasmidATXN10 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATXN10 (see all 7)
    OriGene shRNA RFP: ATXN10
    OriGene siRNA: ATXN10
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATXN10

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ATXN10

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN10 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN10 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): ATXN10 (NM_013236)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATXN10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATXN10 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ATXN10
    Search LifeMap BioReagents cell lines for ATXN10

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN10

    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0042802identical protein binding IEA--


    ATXN10 for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for ATXN10:
     Decreased viability of wild-ty  Increased G2M DNA content 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ATXN10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/21 Interacting proteins for ATXN10 (Q9UBB43 ENSP000002529344) via UniProtKB, MINT, STRING, and/or I2D (see all 21)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BSGP356133, ENSP000003337694I2D: score=2 STRING: ENSP00000333769
    MAGED1Q9Y5V33, ENSP000003648474I2D: score=2 STRING: ENSP00000364847
    STYXL1Q9Y6J83, ENSP000002486004I2D: score=2 STRING: ENSP00000248600
    C20orf24Q9BUV83, ENSP000003412134I2D: score=1 STRING: ENSP00000341213
    SAP18O004223, ENSP000003719734I2D: score=1 STRING: ENSP00000371973
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007399nervous system development IMP16385455
    GO:0008219cell death IEA--
    GO:0031175neuron projection development IDA16498633


    ATXN10 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ATXN10
    Search CenterWatch for drugs/clinical trials and news about ATXN10 / ATX10 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ATXN10 gene (2 alternative transcripts): 
    NM_001167621.1  NM_013236.3  

    Unigene Cluster for ATXN10:

    Ataxin 10
    Hs.475125  [show with all ESTs]
    Unigene Representative Sequence: NM_013236
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000252934(uc003bgm.2 uc011aqt.2 uc003bgn.2) ENST00000498009
    ENST00000470722 ENST00000476998 ENST00000483549 ENST00000435026 ENST00000493643
    ENST00000451241 ENST00000464482 ENST00000402380 ENST00000381061

    miRNA
    Products:
         
    OriGene 3'-UTR Clone: ATXN10
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATXN10
    8/43 QIAGEN miScript miRNA Assays for microRNAs that regulate ATXN10 (see all 43):
    hsa-miR-582-3p hsa-miR-2052 hsa-miR-4307 hsa-miR-19b-2* hsa-miR-3655 hsa-miR-25 hsa-miR-128 hsa-miR-16-1*
    SwitchGear 3'UTR luciferase reporter plasmidATXN10 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATXN10 (see all 7)
    OriGene shRNA RFP: ATXN10
    OriGene siRNA: ATXN10
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATXN10
    Clone
    Products:
         
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN10 (see all 4)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN10 (see all 2)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): ATXN10 (NM_013236)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ATXN10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATXN10 
    Primer
    Products:
        
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATXN10
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATXN10
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN10
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN10

    Additional cDNA sequence: 

    AF086923.1 AF119662.1 AK025734.1 AK095309.1 AK294348.1 AL050282.1 AL137374.1 BC007508.2 
    CR456568.1 CR457381.1 

    20 DOTS entries:

    DT.100880152  DT.456354  DT.100880156  DT.75109620  DT.95170888  DT.95323192  DT.100880150  DT.100880151 
    DT.120631131  DT.92447311  DT.100649620  DT.100732184  DT.100804958  DT.100880155  DT.100880163  DT.120631138 
    DT.92447307  DT.95170867  DT.95170885  DT.95170887 

    24/561 AceView cDNA sequences (see all 561):

    BX356494 CR611700 CR456568 BE744432 BM765004 BU607829 AA256224 BX326910 
    F08300 AA574351 BM763685 BU848652 CR598962 AK095309 BM848220 BM740042 
    AU102829 BM726512 F02480 AA514875 CB142033 AA258662 CN483289 BM838036 

    GeneLoc Exon Structure

    5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ATXN10 (see all 10)    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18a ·
    SP1:        -     -     -                                                           -                       -     -     -     -           -     -               
    SP2:              -     -                                                           -                       -     -     -     -           -     -               
    SP3:                                                                                                                                      -     -               
    SP4:                                                  -                                                                                                         
    SP5:                                                                                                        -     -     -     -           -     -               

    ExUns: 18b · 18c · 18d
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for ATXN10

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ATXN10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TAGCTGGAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See ATXN10 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ATXN10

    SOURCE GeneReport for Unigene cluster: Hs.475125

    UniProtKB/Swiss-Prot: ATX10_HUMAN, Q9UBB4
    Tissue specificity: Expressed in the central nervous system

        SABiosciences Custom PCR Arrays for ATXN10
    Primer
    Products:
    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATXN10
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ATXN10
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN10
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN10
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN10

    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ATXN10 gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Atxn101 , 5 ataxin 101, 5 83.23(n)1
    82.95(a)1
      15 (40.32 cM)5
    541381  NM_016843.31  NP_058539.21 
     853363815 
    chicken
    (Gallus gallus)
    Aves ATXN101 ataxin 10 65.59(n)
    55.48(a)
      418245  XM_416469.3  XP_416469.2 
    lizard
    (Anolis carolinensis)
    Reptilia ATXN106
    --
    50(a)
    1 ↔ 1
    5(83769629-83798324)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.63732 Xenopus laevis transcribed sequence with weak similarity more 73.8(n)    AW633068.1 
    zebrafish
    (Danio rerio)
    Actinopterygii atxn101 ataxin 10 51.86(n)
    40.4(a)
      100034473  NM_001130612.1  NP_001124084.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG49756
    --
    18(a)
    1 ↔ 1
    2R(13614443-13620492)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons MEE501 maternal effect embryo arrest 50 protein 43.64(n)
    28.8(a)
      826583  NM_116241.3  NP_567156.1 
    rice
    (Oryza sativa)
    Liliopsida Os03g01189001 hypothetical protein 39.38(n)
    24(a)
      4331419  NM_001055310.1  NP_001048775.1 


    ENSEMBL Gene Tree for ATXN10 (if available)
    TreeFam Gene Tree for ATXN10 (if available) 

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

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3022 NCBI SNPs in ATXN10 are shown (see all 3022    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs57655731,2
    H--29011904(+) GGTGGT/GGTTTA 2 -- us2k1 tfbs34Minor allele frequency- G:0.00NS EA 416
    rs57655741,2
    H--29012021(+) AGTGGT/GCCCAC 2 -- us2k14Minor allele frequency- G:0.00NS EA 418
    rs96264221,2
    H--29012168(+) GCTTAG/ACAACA 2 -- us2k14Minor allele frequency- A:0.00NS EA 418
    rs119120361,2
    C,F,H,--29012266(+) GATTCC/ATGTGA 2 -- us2k110Minor allele frequency- A:0.12NS EA NA WA 1318
    rs1131566491,2
    --29012708(+) AGGGCC/TCCTCT 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1120122171,2
    C,--29012763(+) AGACCC/TTGTTA 2 -- us2k11Minor allele frequency- T:0.50NA 2
    rs130587051,2
    C--29013432(+) GAGCAG/ACGGAA 4 /Q syn1 ese31Minor allele frequency- A:0.00NA 2
    rs20718721,2
    C,F,--29013525(+) GCGCCG/ACCCCC 2 -- int11Minor allele frequency- A:0.25EA 120
    rs786657221,2
    C,--29013949(+) ATCTGC/GCCTGG 2 -- int10--------
    rs738864871,2
    C,--29014007(+) GTCCAG/ATCCTG 2 -- int12Minor allele frequency- A:0.04WA 120

    HapMap Linkage Disequilibrium report for ATXN10 (46067678 - 46241187 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ATXN10: --
    Human Gene Mutation Database (HGMD): ATXN10

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATXN10
    DNA2.0 Custom Variant and Variant Library Synthesis for ATXN10

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ATXN10 for disorders           About GeneDecksing

    OMIM gene information: 611150   
    OMIM disorders: 603516  
    UniProtKB/Swiss-Prot: ATX10_HUMAN, Q9UBB4
  • Defects in ATXN10 are the cause of spinocerebellar ataxia type 10 (SCA10) [MIM:603516]. Spinocerebellar ataxia
  • is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination
    of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with
    variable involvement of the brainstem and spinal cord. SCA10 is an autosomal dominant cerebellar ataxia (ADCA)
  • Note=Defects in ATXN1 may be a cause of nephronophthisis a chronic tubulo-interstitial nephropathy taht leads
  • to anemia, polyuria, polydipsia, isosthenuria and death in uremia

    10 diseases for ATXN10:    About MalaCards
    spinocerebellar ataxia type 10    spinocerebellar ataxia    ataxia    spinocerebellar ataxia type10
    neuronitis    cerebellar ataxia    neurodegenerative disease    nephronophthisis
    uremia    influenza

    3 diseases from the University of Copenhagen DISEASES database for ATXN10:
    Spinocerebellar ataxia     Cerebellar ataxia     dentatorubral-pallidoluysian atrophy

    2 Novoseek disease relationships for ATXN10 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    spinocerebellar ataxias 93.3 11 15201271 (1), 15505178 (1), 17846122 (1), 18386626 (1) (see all 9)
    neurodegenerative diseases 61.3 4 15201271 (1), 18386626 (1), 19198092 (1)

    GeneTests: ATXN10
    Spinocerebellar Ataxia Type10

    Genetic Association Database (GAD): ATXN10
    Human Genome Epidemiology (HuGE) Navigator: ATXN10 (3 documents)

    Export disorders for ATXN10 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)
    About This Section

    PubMed articles for ATXN10 gene, integrated from 9 sources (see all 55):
    (articles sorted by number of sources associating them with ATXN10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit. (PubMed id 16498633)1, 2, 9 Waragai M.... Ashizawa T. (2006)
    2. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. (PubMed id 11017075)1, 2, 9 Matsuura T....Ashizawa T. (2000)
    3. Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons. (PubMed id 15201271)1, 2, 9 Maerz P....Ozbek S. (2004)
    4. Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. (PubMed id 21565611)1, 2 Sang L.... Jackson P.K. (2011)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. (PubMed id 15148151)1, 4 Brusco A....Taroni F. (2004)
    7. 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. (2004)
    8. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (2004)
    9. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2 Wiemann S.... Poustka A. (2001)
    10. Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. (PubMed id 9973298)1, 3 Zu L....Pulst S.M. (1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 25814 HGNC: 10549 AceView: ATXN10 Ensembl:ENSG00000130638 euGenes: HUgn25814
    ECgene: ATXN10 H-InvDB: ATXN10

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ATXN10 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATXN10

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ATXN10 gene:
    Search GeneIP for patents involving ATXN10

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Phosphatase Activity Assays/Reagents   Browse Recombinant/Natural Proteins  
     Browse OriGene Antibodies   OriGene shRNA RFP for ATXN10  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ATXN10   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ATXN10  
     OriGene Protein Over-expression Lysate for ATXN10   Browse OriGene Fluorogenic Cell Assay Kits  
     OriGene siRNA for ATXN10   OriGene 3'-UTR Clone for ATXN10  
     OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN10   OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN10  
     Browse OriGene GFP tagged cDNA clones in CMV expression vector   Browse OriGene MicroRNA Expression Plasmids  
     Browse OriGene basic RS shRNAs   Browse OriGene validated miRNA SYBR primer pairs  
     OriGene Purified Protein for ATXN10   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for ATXN10   OriGene Custom Protein Services for ATXN10  
     OriGene Custom Immunoassay Development  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ATXN10
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATXN10
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN10
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ATXN10
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN10
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN10
     GenScript Custom Purified and Recombinant Proteins Services for ATXN10 GenScript cDNA clones with any tag delivered in your preferred vector for ATXN10
     GenScript Custom Assay Services for ATXN10 GenScript Custom Superior Antibodies Services for ATXN10
     GenScript Custom overexpressing Cell Line Services for ATXN10 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in ATXN10 promoter
     Search Chromatin IP Primers for ATXN10
     RT2 qPCR Primer Assay in human, mouse, rat ATXN10
     Search GNC Networks for ATXN10
     SABiosciences Custom PCR Arrays for ATXN10
     Search Tocris compounds for ATXN10
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     ATXN10 antibodies
     ATXN10 proteins
     ATXN10 lysates
     Search for Antibodies for ATXN10 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for ATXN10
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     ATXN10 Proteins, Antibodies, CLIAs, and ELISAs
     Search LifeMap BioReagents cell lines for ATXN10
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN10
     SwitchGear 3'UTR luciferase reporter plasmids for ATXN10
     SwitchGear Promoter luciferase reporter plasmids for ATXN10
     ThermoFisher Antibodies for ATXN10
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ATXN10
           
    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

    View Random Gene

    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      ATXN10 gene at Home site.
    hostname: 356980-web2.xennexinc.com index build: 100 solr: 1.4