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ATXN2 ataxin 2 [ Homo sapiens (human) ]

Gene ID: 6311, updated on 3-Nov-2024

Summary

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Official Symbol
ATXN2provided by HGNC
Official Full Name
ataxin 2provided by HGNC
Primary source
HGNC:HGNC:10555
See related
Ensembl:ENSG00000204842 MIM:601517; AllianceGenome:HGNC:10555
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ATX2; SCA2; TNRC13
Summary
This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]
Expression
Ubiquitous expression in testis (RPKM 11.3), brain (RPKM 9.4) and 25 other tissues See more
Orthologs
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Genomic context

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See ATXN2 in Genome Data Viewer
Location:
12q24.12
Exon count:
27
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (111452214..111599673, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (111432772..111576594, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (111890018..112037477, complement)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2356 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 14 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4866 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4867 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:111851003-111851850 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:111855471-111856170 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:111863315-111863890 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7032 Neighboring gene uncharacterized LOC124903019 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7033 Neighboring gene SH2B adaptor protein 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:111873559-111874138 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7034 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:111874139-111874718 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:111876422-111876935 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:111877948-111878492 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:111880447-111880633 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7035 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7036 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7037 Neighboring gene U7 small nuclear RNA Neighboring gene ReSE screen-validated silencer GRCh37_chr12:112008371-112008568 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4869 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:112029875-112030049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4870 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4871 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4873 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4872 Neighboring gene IFITM3 pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7038 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:112049467-112049966 Neighboring gene ATXN2 antisense RNA Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:112073223-112073826 Neighboring gene uncharacterized LOC124903020 Neighboring gene BRCA1 associated protein Neighboring gene PEST containing nuclear protein pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Large normal alleles and SCA2 prevalence: lessons from a nationwide study and analysis of the literature. Laffita-Mesa JM, et al. Clin Genet, 2014 Jul. PMID 23865735
  2. Direct binding of Ataxin-2 to distinct elements in 3' UTRs promotes mRNA stability and protein expression. Yokoshi M, et al. Mol Cell, 2014 Jul 17. PMID 24954906
  3. ATXN2 intermediate repeat expansions influence the clinical phenotype in frontotemporal dementia. Rubino E, et al. Neurobiol Aging, 2019 Jan. PMID 30342763
  4. Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients. Santos D, et al. Ann Neurol, 2019 Feb. PMID 30615214
  5. 12q24 locus association with type 1 diabetes: SH2B3 or ATXN2? Auburger G, et al. World J Diabetes, 2014 Jun 15. PMID 24936253, Free PMC Article

See all (282) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Abnormal open states patterns in the ATXN2 DNA sequence depends on the CAG repeats length.
    Title: Abnormal open states patterns in the ATXN2 DNA sequence depends on the CAG repeats length.
  2. Concerted action of ataxin-2 and PABPC1-bound mRNA poly(A) tail in the formation of stress granules.
    Title: Concerted action of ataxin-2 and PABPC1-bound mRNA poly(A) tail in the formation of stress granules.
  3. Clinical features, disease progression, and nuclear imaging in ATXN2-related parkinsonism in a longitudinal cohort.
    Title: Clinical features, disease progression, and nuclear imaging in ATXN2-related parkinsonism in a longitudinal cohort.
  4. Structured and disordered regions of Ataxin-2 contribute differently to the specificity and efficiency of mRNP granule formation.
    Title: Structured and disordered regions of Ataxin-2 contribute differently to the specificity and efficiency of mRNP granule formation.
  5. ATXN2 is a target of N-terminal proteolysis.
    Title: ATXN2 is a target of N-terminal proteolysis.
  6. ATXN2-Mediated PI3K/AKT Activation Confers Gastric Cancer Chemoresistance and Attenuates CD8(+) T Cell Cytotoxicity.
    Title: ATXN2-Mediated PI3K/AKT Activation Confers Gastric Cancer Chemoresistance and Attenuates CD8(+) T Cell Cytotoxicity.
  7. ATXN2 intermediate expansions in amyotrophic lateral sclerosis.
    Title: ATXN2 intermediate expansions in amyotrophic lateral sclerosis.
  8. ATXN2-mediated translation of TNFR1 promotes esophageal squamous cell carcinoma via m(6)A-dependent manner.
    Title: ATXN2-mediated translation of TNFR1 promotes esophageal squamous cell carcinoma via m(6)A-dependent manner.
  9. VNTR (CAG)n polymorphism of the ATXN2 gene and metabolic parameters of cardiovascular risk associated with the degree of obesity in the Amerindian population of Oaxaca.
    Title: VNTR (CAG)n polymorphism of the ATXN2 gene and metabolic parameters of cardiovascular risk associated with the degree of obesity in the Amerindian population of Oaxaca.
  10. Spinocerebellar ataxia type 2 from an evolutionary perspective: Systematic review and meta-analysis.
    Title: Spinocerebellar ataxia type 2 from an evolutionary perspective: Systematic review and meta-analysis.
Submit: New GeneRIF Correction See all GeneRIFs (137)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
EBI GWAS Catalog
Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.
EBI GWAS Catalog
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
EBI GWAS Catalog
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
EBI GWAS Catalog
Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.
EBI GWAS Catalog
Genome-wide association study identifies eight loci associated with blood pressure.
EBI GWAS Catalog
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
EBI GWAS Catalog
Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.
EBI GWAS Catalog
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
EBI GWAS Catalog
Multiple common variants for celiac disease influencing immune gene expression.
EBI GWAS Catalog
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
EBI GWAS Catalog
New loci associated with kidney function and chronic kidney disease.
EBI GWAS Catalog
Newly identified genetic risk variants for celiac disease related to the immune response.
EBI GWAS Catalog
Novel associations for hypothyroidism include known autoimmune risk loci.
EBI GWAS Catalog
Seventy-five genetic loci influencing the human red blood cell.
EBI GWAS Catalog
The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of ataxin 2 (ATXN2) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ46772

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables RNA binding HDA PubMed 
enables RNA binding NAS
Non-traceable Author Statement
more info
 PubMed 
enables epidermal growth factor receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables mRNA binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in P-body assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in RNA metabolic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in RNA transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in negative regulation of receptor internalization IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of translation NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in stress granule assembly IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in stress granule assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
is_active_in cytoplasmic stress granule IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in cytoplasmic stress granule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytosol IDA
Inferred from Direct Assay
more info
  
located_in membrane HDA PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
 PubMed 
part_of ribonucleoprotein complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in trans-Golgi network IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
ataxin-2
Names
spinocerebellar ataxia type 2 protein
trinucleotide repeat-containing gene 13 protein

NCBI Reference Sequences (RefSeq)

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NEW Try the new Transcript table

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.

Genomic

  1. NG_011572.3 RefSeqGene

    Range
    5362..152463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_864

mRNA and Protein(s)

  1. NM_001310121.1 → NP_001297050.1  ataxin-2 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, uses alternate splice sites in the 5' coding region, which results in use of a downstream start codon, and contains an alternate in-frame exon in the 3' coding region compared to variant 1. It encodes isoform 2, which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AA731027, AI668891, BC111757, BM671308
    Consensus CDS
    CCDS81739.1
    UniProtKB/TrEMBL
    F8VQP2, Q2M2R5
    Related
    ENSP00000445583.2, ENST00000542287.6
    Conserved Domains (4) summary
    pfam06741
    Location:144 → 205
    LsmAD; LsmAD domain
    pfam14438
    Location:3 → 76
    SM-ATX; Ataxin 2 SM domain
    cl26386
    Location:303 → 494
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
    cl26464
    Location:664 → 988
    Atrophin-1; Atrophin-1 family

  2. NM_001310123.1 → NP_001297052.1  ataxin-2 isoform 3

    See identical proteins and their annotated locations for NP_001297052.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and has multiple coding region differences, one of which results in use of a downstream start codon compared to variant 1. It encodes isoform 3, which has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AA731027, AI668891, BC114546, BM671308
    Consensus CDS
    CCDS81738.1
    UniProtKB/TrEMBL
    Q2M2R5
    Related
    ENSP00000439338.1, ENST00000535949.5
    Conserved Domains (4) summary
    pfam06741
    Location:120 → 181
    LsmAD; LsmAD domain
    cl00259
    Location:12 → 52
    Sm_like; Sm and related proteins
    cl25764
    Location:641 → 829
    PAT1; Topoisomerase II-associated protein PAT1
    cl26464
    Location:316 → 864
    Atrophin-1; Atrophin-1 family

  3. NM_001372574.1 → NP_001359503.1  ataxin-2 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC002395, AC137055
    Consensus CDS
    CCDS91750.1
    UniProtKB/TrEMBL
    A0A5F9ZI57, Q2M2R5
    Related
    ENSP00000500925.1, ENST00000673436.1
    Conserved Domains (6) summary
    PHA03247
    Location:769 → 1087
    PHA03247; large tegument protein UL36; Provisional
    COG5180
    Location:194 → 339
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    PRK12323
    Location:408 → 599
    PRK12323; DNA polymerase III subunit gamma/tau
    pfam07145
    Location:750 → 765
    PAM2; Ataxin-2 C-terminal region
    pfam06741
    Location:249 → 310
    LsmAD; LsmAD domain
    pfam14438
    Location:105 → 181
    SM-ATX; Ataxin 2 SM domain

  4. NM_002973.4 → NP_002964.4  ataxin-2 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC002395, AC137055
    Consensus CDS
    CCDS31902.2
    UniProtKB/TrEMBL
    Q2M2R5, V9GY86
    Related
    ENSP00000500649.1, ENST00000672613.1
    Conserved Domains (6) summary
    PHA03247
    Location:769 → 1085
    PHA03247; large tegument protein UL36; Provisional
    COG5180
    Location:194 → 339
    PBP1; PAB1-binding protein PBP1, interacts with poly(A)-binding protein [RNA processing and modification]
    PRK12323
    Location:408 → 599
    PRK12323; DNA polymerase III subunits gamma and tau; Provisional
    pfam06741
    Location:249 → 316
    LsmAD; LsmAD domain
    pfam07145
    Location:750 → 765
    PAM2; Ataxin-2 C-terminal region
    pfam14438
    Location:105 → 181
    SM-ATX; Ataxin 2 SM domain

RNA

  1. NR_132311.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an internal exon compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA731027, AC137055, AI668891, DA796951, U70323, Y08262
    Related
    ENST00000483311.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p14 Primary Assembly

    Range
    111452214..111599673 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060936.1 Alternate T2T-CHM13v2.0

    Range
    111432772..111576594 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q99700.2 GenPept UniProtKB/Swiss-Prot:Q99700

Gene LinkOut

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Chemical Information
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