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Atxn2 ataxin 2 [ Rattus norvegicus (Norway rat) ]

Gene ID: 288663, updated on 10-Oct-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 RNA binding activity; epidermal growth factor receptor binding activity; and protein C-terminus 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 polysome. 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, Apr 2022]
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. Generation and characterization of Sca2 (ataxin-2) knockout mice. Kiehl TR, et al. Biochem Biophys Res Commun, 2006 Jan 6. PMID 16293225
  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. The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression. Nechiporuk T, et al. Hum Mol Genet, 1998 Aug. PMID 9668173
  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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