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Ataxin 2 (ATXN2)

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SCA2; ATX2; TNRC13; Spinocerebellar Ataxia 2; Olivopontocerebellar Ataxia 2; Autosomal Dominant; Trinucleotide Repeat Containing 13

Ataxin 2 (ATXN2)
CCC C306
HGNC 10555
MGI 1277223
PubMed 20740007
RGD 1306637
UniProt Q99700
Wiki ATXN2
Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ataxin 2 (ATXN2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ataxin 2 (ATXN2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ataxin 2 (ATXN2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ataxin 2 (ATXN2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ataxin 2 (ATXN2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ataxin 2 (ATXN2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ataxin 2 (ATXN2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ataxin 2 (ATXN2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ataxin 2 (ATXN2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ataxin 2 (ATXN2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Ataxin 2 (ATXN2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Ataxin 2 (ATXN2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Ataxin 2 (ATXN2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Ataxin 2 (ATXN2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Ataxin 2 (ATXN2) ELISA Kit Customized Service Offer
  1. "Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2."Nat. Genet. 14:269-276(1996) [PubMed] [Europe PMC] [Abstract]
  2. "Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT." Nat. Genet. 14:277-284(1996) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The finished DNA sequence of human chromosome 12." Nature 440:346-351(2006) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats."Nat. Genet. 14:285-291(1996) [PubMed] [Europe PMC] [Abstract]
  7. "Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1."Genomics 47:359-364(1998) [PubMed] [Europe PMC] [Abstract]
  8. "A novel protein with RNA-binding motifs interacts with ataxin-2."Hum. Mol. Genet. 9:1303-1313(2000) [PubMed] [Europe PMC] [Abstract]
  9. "Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes."Hum. Mol. Genet. 15:2523-2532(2006) [PubMed] [Europe PMC] [Abstract]
  10. "A probability-based approach for high-throughput protein phosphorylation analysis and site localization."Nat. Biotechnol. 24:1285-1292(2006) [PubMed] [Europe PMC] [Abstract]
  11. "Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking."Cell. Signal. 20:1725-1739(2008) [PubMed] [Europe PMC] [Abstract]
  12. "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient phosphoproteomic analysis."J. Proteome Res. 7:1346-1351(2008) [PubMed] [Europe PMC] [Abstract]
  13. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  14. "Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach."Anal. Chem. 81:4493-4501(2009) [PubMed] [Europe PMC] [Abstract]
  15. "Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
  16. "Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS." Nature 466:1069-1075(2010) [PubMed] [Europe PMC] [Abstract]
  17. "Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
  18. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  19. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  20. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]