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    atxn2 ataxin 2 [ Danio rerio (zebrafish) ]

    Gene ID: 569210, updated on 4-Jan-2025

    Summary

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    Official Symbol
    atxn2provided by ZNC
    Official Full Name
    ataxin 2provided by ZNC
    Primary source
    ZFIN:ZDB-GENE-060526-217
    See related
    Ensembl:ENSDARG00000052897 AllianceGenome:ZFIN:ZDB-GENE-060526-217
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Danio rerio
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Actinopterygii; Neopterygii; Teleostei; Ostariophysi; Cypriniformes; Danionidae; Danioninae; Danio
    Also known as
    si:dkey-165i4.1
    Summary
    Predicted to enable mRNA binding activity. Predicted to be involved in stress granule assembly. Predicted to be active in cytoplasmic stress granule. Is expressed in gut; motor neurons; and spinal cord. 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, Jan 2025]
    Orthologs
    human mouse all
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    Genomic context

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    See atxn2 in Genome Data Viewer
    Location:
    chromosome: 5
    Exon count:
    25
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCz11 (GCF_000002035.6) 5 NC_007116.7 (41645308..41709250, complement)
    105 previous assembly GRCz10 (GCF_000002035.5) 5 NC_007116.6 (41045200..41109129, complement)

    Chromosome 5 - NC_007116.7Genomic Context describing neighboring genes Neighboring gene ectopic P-granules autophagy protein 5 homolog (C. elegans) Neighboring gene RIO kinase 2 (yeast) Neighboring gene uncharacterized LOC108190180 Neighboring gene uncharacterized LOC100334916

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • Description: Sequencing the Zebrafish transcriptome from a range of tissues and developmental stages
    • BioProject: PRJEB1986
    • Analysis date: Fri Dec 8 19:48:10 2017

    Bibliography

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    Related articles in PubMed

    1. The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway. Ciura S, et al. Autophagy, 2016 Aug 2. PMID 27245636, Free PMC Article
    2. ALS-associated genes display CNS expression in the developing zebrafish. Laboissonniere LA, et al. Gene Expr Patterns, 2018 Dec. PMID 30165106
    3. Hematopoietic gene expression profile in zebrafish kidney marrow. Song HD, et al. Proc Natl Acad Sci U S A, 2004 Nov 16. PMID 15520368, Free PMC Article
    4. 15000 unique zebrafish EST clusters and their future use in microarray for profiling gene expression patterns during embryogenesis. Lo J, et al. Genome Res, 2003 Mar. PMID 12618376, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. C9orf72 plays an important role in the autophagy pathway while genetically interacting with another major genetic risk factor, ATXN2, to contribute to ALS-FTD pathogenesis
      Title: The most prevalent genetic cause of ALS-FTD, C9orf72 synergizes the toxicity of ATXN2 intermediate polyglutamine repeats through the autophagy pathway.
    Submit: New GeneRIF Correction

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by ZFIN

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in stress granule assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasmic stress granule IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    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_001128349.1 → NP_001121821.1  ataxin-2

      Status: PROVISIONAL

      Source sequence(s)
      CR753867, CR854992
      UniProtKB/TrEMBL
      A0A8M1NHE2, A2CF31
      Related
      ENSDARP00000078091.4, ENSDART00000083656.5
      Conserved Domains (3) summary
      pfam06741
      Location:204 → 265
      LsmAD; LsmAD domain
      pfam07145
      Location:708 → 724
      PAM2; Ataxin-2 C-terminal region
      pfam14438
      Location:62 → 131
      SM-ATX; Ataxin 2 SM domain

    RefSeqs of Annotated Genomes: GCF_000002035.6-RS_2024_08

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

    Reference GRCz11 Primary Assembly

    Genomic

    1. NC_007116.7 Reference GRCz11 Primary Assembly

      Range
      41645308..41709250 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_009301668.4 → XP_009299943.1  ataxin-2 isoform X7

      UniProtKB/TrEMBL
      A0A8M3B2P7
      Conserved Domains (3) summary
      pfam06741
      Location:204 → 265
      LsmAD; LsmAD domain
      pfam07145
      Location:708 → 724
      PAM2; Ataxin-2 C-terminal region
      pfam14438
      Location:62 → 131
      SM-ATX; Ataxin 2 SM domain

    2. XM_009301665.4 → XP_009299940.1  ataxin-2 isoform X3

      UniProtKB/TrEMBL
      A0A8M3ASJ0
      Conserved Domains (3) summary
      pfam06741
      Location:204 → 265
      LsmAD; LsmAD domain
      pfam07145
      Location:708 → 724
      PAM2; Ataxin-2 C-terminal region
      pfam14438
      Location:62 → 131
      SM-ATX; Ataxin 2 SM domain

    3. XM_005165355.5 → XP_005165412.1  ataxin-2 isoform X8

      UniProtKB/TrEMBL
      A0A8M2BCN9
      Conserved Domains (3) summary
      pfam06741
      Location:209 → 270
      LsmAD; LsmAD domain
      pfam07145
      Location:641 → 657
      PAM2; Ataxin-2 C-terminal region
      pfam14438
      Location:62 → 131
      SM-ATX; Ataxin 2 SM domain

    4. XM_009301667.4 → XP_009299942.1  ataxin-2 isoform X5

      UniProtKB/TrEMBL
      A0A8M3ASN5
      Conserved Domains (3) summary
      pfam06741
      Location:209 → 270
      LsmAD; LsmAD domain
      pfam07145
      Location:713 → 729
      PAM2; Ataxin-2 C-terminal region
      pfam14438
      Location:62 → 131
      SM-ATX; Ataxin 2 SM domain

    5. XM_009301666.4 → XP_009299941.1  ataxin-2 isoform X4

      UniProtKB/TrEMBL
      A0A8M3B9T7
      Conserved Domains (3) summary
      pfam06741
      Location:209 → 270
      LsmAD; LsmAD domain
      pfam07145
      Location:713 → 729
      PAM2; Ataxin-2 C-terminal region
      pfam14438
      Location:62 → 131
      SM-ATX; Ataxin 2 SM domain

    6. XM_009301664.4 → XP_009299939.1  ataxin-2 isoform X2

      UniProtKB/TrEMBL
      A0A8M3AZT8
      Conserved Domains (3) summary
      pfam06741
      Location:209 → 270
      LsmAD; LsmAD domain
      pfam07145
      Location:713 → 729
      PAM2; Ataxin-2 C-terminal region
      pfam14438
      Location:62 → 131
      SM-ATX; Ataxin 2 SM domain

    7. XM_017356154.3 → XP_017211643.1  ataxin-2 isoform X6

      UniProtKB/TrEMBL
      A0A8M6Z6Y6

    8. XM_009301663.4 → XP_009299938.1  ataxin-2 isoform X1

      UniProtKB/TrEMBL
      A0A8M3B2P4
      Conserved Domains (3) summary
      pfam06741
      Location:209 → 270
      LsmAD; LsmAD domain
      pfam07145
      Location:713 → 729
      PAM2; Ataxin-2 C-terminal region
      pfam14438
      Location:62 → 131
      SM-ATX; Ataxin 2 SM domain

    9. XM_017356155.3 → XP_017211644.1  ataxin-2 isoform X10

      UniProtKB/TrEMBL
      A0A8M6YYA8

    10. XM_009301669.4 → XP_009299944.1  ataxin-2 isoform X9

      UniProtKB/TrEMBL
      A0A8M3AZU1
      Conserved Domains (3) summary
      pfam06741
      Location:204 → 265
      LsmAD; LsmAD domain
      pfam07145
      Location:708 → 724
      PAM2; Ataxin-2 C-terminal region
      pfam14438
      Location:62 → 131
      SM-ATX; Ataxin 2 SM domain

    Reference GRCz11 ALT_DRER_TU_2

    Genomic

    1. NW_018395242.1 Reference GRCz11 ALT_DRER_TU_2

      Range
      409899..469517 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein Strain
    Heading Accession and Version

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