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    Atxn2 ataxin 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 288663, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Atxn2provided by RGD
    Official Full Name
    ataxin 2provided by RGD
    Primary source
    RGD:1306637
    See related
    EnsemblRapid:ENSRNOG00000001256 AllianceGenome:RGD:1306637
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Sca2
    Summary
    Predicted to enable epidermal growth factor receptor binding activity and mRNA binding activity. Predicted to be involved in P-body assembly; negative regulation of receptor internalization; and stress granule assembly. Predicted to act upstream of or within several processes, including homeostasis of number of cells; neuromuscular process; and neuron differentiation. Predicted to be located in cytosol; perinuclear region of cytoplasm; and trans-Golgi network. Predicted to be part of ribonucleoprotein complex. Predicted to be active in cytoplasmic stress granule. Human ortholog(s) of this gene implicated in late onset Parkinson's disease and spinocerebellar ataxia type 2. Orthologous to human ATXN2 (ataxin 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in Spleen (RPKM 101.8), Heart (RPKM 98.0) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Atxn2 in Genome Data Viewer
    Location:
    12q16
    Exon count:
    28
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 12 NC_086030.1 (40413657..40509895, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 12 NC_051347.1 (34754132..34851175, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 12 NC_005111.4 (40264601..40335637, complement)

    Chromosome 12 - NC_086030.1Genomic Context describing neighboring genes Neighboring gene cut-like homeobox 2 Neighboring gene uncharacterized LOC134481298 Neighboring gene PH domain containing endocytic trafficking adaptor 1 Neighboring gene SH2B adaptor protein 3 Neighboring gene F-box protein 22, pseudogene 1 Neighboring gene BRCA1 associated protein Neighboring gene acyl-CoA dehydrogenase family, member 10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. Partial resistance of ataxin-2-containing olivary and pontine neurons to axotomy-induced degeneration. Viscomi MT, et al. Brain Res Bull, 2005 Aug 15. PMID 16023918
    2. The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression. Nechiporuk T, et al. Hum Mol Genet, 1998 Aug. PMID 9668173
    3. Expansion of the polyQ repeat in ataxin-2 alters its Golgi localization, disrupts the Golgi complex and causes cell death. Huynh DP, et al. Hum Mol Genet, 2003 Jul 1. PMID 12812977
    4. Generation and characterization of Sca2 (ataxin-2) knockout mice. Kiehl TR, et al. Biochem Biophys Res Commun, 2006 Jan 6. PMID 16293225
    5. Parkin is an E3 ubiquitin-ligase for normal and mutant ataxin-2 and prevents ataxin-2-induced cell death. Huynh DP, et al. Exp Neurol, 2007 Feb. PMID 17097639, Free PMC Article

    See all (19) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. ataxin-2 is involved in resistance to degeneration phenomena which may be lost after mutation
      Title: Partial resistance of ataxin-2-containing olivary and pontine neurons to axotomy-induced degeneration.
    Submit: New GeneRIF Correction

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    NOT enables DNA binding domain binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables epidermal growth factor receptor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in P-body assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in biological_process ND
    No biological Data available
    more info
    		  
    acts_upstream_of_or_within cerebellar Purkinje cell differentiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within homeostasis of number of cells ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within negative regulation of multicellular organism growth ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in negative regulation of receptor internalization ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neuromuscular process ISO
    Inferred from Sequence Orthology
    more info
    		  
    acts_upstream_of_or_within neuron projection morphogenesis ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in stress granule assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in stress granule assembly ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    located_in Golgi apparatus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in cytoplasmic stress granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasmic stress granule ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in perinuclear region of cytoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    part_of ribonucleoprotein complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in trans-Golgi network ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    ataxin-2
    Names
    spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001419737.1 → NP_001406666.1  ataxin-2

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000012
      Related
      ENSRNOP00000079599.2, ENSRNOT00000115112.2

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCr8

    Genomic

    1. NC_086030.1 Reference GRCr8

      Range
      40413657..40509895 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063271189.1 → XP_063127259.1  ataxin-2 isoform X10

    2. XM_063271185.1 → XP_063127255.1  ataxin-2 isoform X6

    3. XM_063271199.1 → XP_063127269.1  ataxin-2 isoform X22

      Related
      ENSRNOP00000101057.1, ENSRNOT00000173364.1

    4. XM_063271193.1 → XP_063127263.1  ataxin-2 isoform X14

    5. XM_063271203.1 → XP_063127273.1  ataxin-2 isoform X26

    6. XM_063271197.1 → XP_063127267.1  ataxin-2 isoform X19

    7. XM_063271194.1 → XP_063127264.1  ataxin-2 isoform X16

    8. XM_063271186.1 → XP_063127256.1  ataxin-2 isoform X7

    9. XM_063271204.1 → XP_063127274.1  ataxin-2 isoform X27

    10. XM_039090155.2 → XP_038946083.2  ataxin-2 isoform X21

    11. XM_063271181.1 → XP_063127251.1  ataxin-2 isoform X1

    12. XM_063271205.1 → XP_063127275.1  ataxin-2 isoform X28

    13. XM_063271183.1 → XP_063127253.1  ataxin-2 isoform X3

    14. XM_063271182.1 → XP_063127252.1  ataxin-2 isoform X2

    15. XM_063271202.1 → XP_063127272.1  ataxin-2 isoform X25

    16. XM_063271206.1 → XP_063127276.1  ataxin-2 isoform X29

    17. XM_063271192.1 → XP_063127262.1  ataxin-2 isoform X13

    18. XM_063271184.1 → XP_063127254.1  ataxin-2 isoform X4

    19. XM_063271207.1 → XP_063127277.1  ataxin-2 isoform X30

    20. XM_063271200.1 → XP_063127270.1  ataxin-2 isoform X23

    21. XM_039090144.2 → XP_038946072.1  ataxin-2 isoform X5

      UniProtKB/TrEMBL
      F1M049
      Conserved Domains (5) summary
      PHA03247
      Location:891 → 1251
      PHA03247; large tegument protein UL36; Provisional
      COG5180
      Location:322 → 467
      PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
      pfam06741
      Location:377 → 438
      LsmAD; LsmAD domain
      pfam07145
      Location:879 → 893
      PAM2; Ataxin-2 C-terminal region
      pfam14438
      Location:236 → 309
      SM-ATX; Ataxin 2 SM domain

    22. XM_063271187.1 → XP_063127257.1  ataxin-2 isoform X8

    23. XM_063271190.1 → XP_063127260.1  ataxin-2 isoform X11

      Related
      ENSRNOP00000089697.2, ENSRNOT00000108093.2

    24. XM_063271196.1 → XP_063127266.1  ataxin-2 isoform X18

    25. XM_063271198.1 → XP_063127268.1  ataxin-2 isoform X20

    26. XM_039090153.2 → XP_038946081.1  ataxin-2 isoform X15

      UniProtKB/TrEMBL
      F1M049
      Conserved Domains (5) summary
      PHA03247
      Location:897 → 1214
      PHA03247; large tegument protein UL36; Provisional
      COG5180
      Location:322 → 467
      PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
      pfam06741
      Location:377 → 438
      LsmAD; LsmAD domain
      pfam07145
      Location:879 → 893
      PAM2; Ataxin-2 C-terminal region
      pfam14438
      Location:236 → 309
      SM-ATX; Ataxin 2 SM domain

    27. XM_063271201.1 → XP_063127271.1  ataxin-2 isoform X24

    28. XM_039090149.2 → XP_038946077.1  ataxin-2 isoform X9

      UniProtKB/TrEMBL
      F1M049
      Conserved Domains (5) summary
      PHA03247
      Location:891 → 1246
      PHA03247; large tegument protein UL36; Provisional
      COG5180
      Location:322 → 467
      PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
      pfam06741
      Location:377 → 438
      LsmAD; LsmAD domain
      pfam07145
      Location:879 → 893
      PAM2; Ataxin-2 C-terminal region
      pfam14438
      Location:236 → 309
      SM-ATX; Ataxin 2 SM domain

    29. XM_063271191.1 → XP_063127261.1  ataxin-2 isoform X12

      Related
      ENSRNOP00000099398.1, ENSRNOT00000159226.1

    30. XM_063271195.1 → XP_063127265.1  ataxin-2 isoform X17

      Related
      ENSRNOP00000112601.1, ENSRNOT00000131024.1

    31. XM_063271209.1 → XP_063127279.1  ataxin-2 isoform X32

    32. XM_063271208.1 → XP_063127278.1  ataxin-2 isoform X31

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001105930.1: Suppressed sequence

      Description
      NM_001105930.1: This RefSeq was temporarily suppressed because the CDS was partial.
    Nucleotide Protein Strain
    Heading Accession and Version

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