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Aliases for ATXN2 Gene

Aliases for ATXN2 Gene

  • Ataxin 2 2 3 5
  • Trinucleotide Repeat-Containing Gene 13 Protein 3 4
  • Spinocerebellar Ataxia Type 2 Protein 3 4
  • TNRC13 3 4
  • SCA2 3 4
  • ATX2 3 4
  • Spinocerebellar Ataxia 2 (Olivopontocerebellar Ataxia 2, Autosomal Dominant, Ataxin 2) 2
  • Trinucleotide Repeat Containing 13 2
  • ASL13 3

External Ids for ATXN2 Gene

Previous HGNC Symbols for ATXN2 Gene

  • SCA2
  • TNRC13

Previous GeneCards Identifiers for ATXN2 Gene

  • GC12M110352
  • GC12M111890
  • GC12M108904

Summaries for ATXN2 Gene

Entrez Gene Summary for ATXN2 Gene

  • 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 protein is primarily localized to the Golgi apparatus, with deletion of the Golgi and endoplasmic reticulum signals resulting in abnormal subcellular localization. In addition, the N-terminal region contains a polyglutamine tract. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2015]

GeneCards Summary for ATXN2 Gene

ATXN2 (Ataxin 2) is a Protein Coding gene. Diseases associated with ATXN2 include spinocerebellar ataxia 2 and parkinson disease, late-onset. Among its related pathways are Akt Signaling and Parkinsons Disease Pathway. GO annotations related to this gene include poly(A) RNA binding and protein C-terminus binding. An important paralog of this gene is ATXN2L.

UniProtKB/Swiss-Prot for ATXN2 Gene

  • Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.

Gene Wiki entry for ATXN2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATXN2 Gene

Genomics for ATXN2 Gene

Regulatory Elements for ATXN2 Gene

Promoters for ATXN2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ATXN2 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ATXN2 gene promoter:

Genomic Location for ATXN2 Gene

Chromosome:
12
Start:
111,452,214 bp from pter
End:
111,599,676 bp from pter
Size:
147,463 bases
Orientation:
Minus strand

Genomic View for ATXN2 Gene

Genes around ATXN2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATXN2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATXN2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN2 Gene

Proteins for ATXN2 Gene

  • Protein details for ATXN2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99700-ATX2_HUMAN
    Recommended name:
    Ataxin-2
    Protein Accession:
    Q99700
    Secondary Accessions:
    • A6NLD4
    • Q24JQ7
    • Q6ZQZ7
    • Q99493

    Protein attributes for ATXN2 Gene

    Size:
    1313 amino acids
    Molecular mass:
    140283 Da
    Quaternary structure:
    • Monomer (By similarity). Can also form homodimers (By similarity). Interacts with TARDBP; the interaction is RNA-dependent (PubMed:20740007). Interacts with RBFOX1 (PubMed:10814712). Interacts with polyribosomes (PubMed:16835262). Interacts with SH3GL2 and SH3GL3 (PubMed:18602463). Interacts with SH3KBP1 and CBL (By similarity). Interacts with EGFR (PubMed:18602463). Interacts with ATXN2L (PubMed:23209657).

    Three dimensional structures from OCA and Proteopedia for ATXN2 Gene

    Alternative splice isoforms for ATXN2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATXN2 Gene

Proteomics data for ATXN2 Gene at MOPED

Post-translational modifications for ATXN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for ATXN2 Gene

Domains & Families for ATXN2 Gene

Gene Families for ATXN2 Gene

Protein Domains for ATXN2 Gene

Suggested Antigen Peptide Sequences for ATXN2 Gene

Graphical View of Domain Structure for InterPro Entry

Q99700

UniProtKB/Swiss-Prot:

ATX2_HUMAN :
  • Belongs to the ataxin-2 family.
Family:
  • Belongs to the ataxin-2 family.
genes like me logo Genes that share domains with ATXN2: view

Function for ATXN2 Gene

Molecular function for ATXN2 Gene

UniProtKB/Swiss-Prot Function:
Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma membrane.

Gene Ontology (GO) - Molecular Function for ATXN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10814712
genes like me logo Genes that share ontologies with ATXN2: view
genes like me logo Genes that share phenotypes with ATXN2: view

Human Phenotype Ontology for ATXN2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATXN2 Gene

MGI Knock Outs for ATXN2:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ATXN2 Gene

Localization for ATXN2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATXN2 Gene

Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ATXN2 Gene COMPARTMENTS Subcellular localization image for ATXN2 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
cytosol 4
mitochondrion 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ATXN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 10814712
GO:0005802 trans-Golgi network IDA 10814712
genes like me logo Genes that share ontologies with ATXN2: view

Pathways & Interactions for ATXN2 Gene

genes like me logo Genes that share pathways with ATXN2: view

Pathways by source for ATXN2 Gene

1 BioSystems pathway for ATXN2 Gene
2 Qiagen pathways for ATXN2 Gene

SIGNOR curated interactions for ATXN2 Gene

Other effect:

Gene Ontology (GO) - Biological Process for ATXN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016070 RNA metabolic process NAS 15663938
GO:0050658 RNA transport NAS 10814712
genes like me logo Genes that share ontologies with ATXN2: view

Drugs & Compounds for ATXN2 Gene

(1) Drugs for ATXN2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for ATXN2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ATXN2: view

Transcripts for ATXN2 Gene

mRNA/cDNA for ATXN2 Gene

(3) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(1) Selected AceView cDNA sequences:
(27) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ATXN2 Gene

Ataxin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ATXN2 Gene

No ASD Table

Relevant External Links for ATXN2 Gene

GeneLoc Exon Structure for
ATXN2
ECgene alternative splicing isoforms for
ATXN2

Expression for ATXN2 Gene

mRNA expression in normal human tissues for ATXN2 Gene

Protein differential expression in normal tissues from HIPED for ATXN2 Gene

This gene is overexpressed in Testis (11.1), Fetal Brain (10.9), Plasma (9.6), Peripheral blood mononuclear cells (6.6), and Pancreas (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ATXN2 Gene



SOURCE GeneReport for Unigene cluster for ATXN2 Gene Hs.76253

mRNA Expression by UniProt/SwissProt for ATXN2 Gene

Q99700-ATX2_HUMAN
Tissue specificity: Expressed in the brain, heart, liver, skeletal muscle, pancreas and placenta. Isoform 1 is predominant in the brain and spinal cord. Isoform 4 is more abundant in the cerebellum. In the brain, broadly expressed in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus and thalamus.
genes like me logo Genes that share expression patterns with ATXN2: view

Protein tissue co-expression partners for ATXN2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for ATXN2 Gene

Orthologs for ATXN2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ATXN2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ATXN2 35
  • 99.7 (n)
  • 99.84 (a)
ATXN2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ATXN2 36
  • 94 (a)
OneToOne
ATXN2 35
  • 92.45 (n)
  • 93.66 (a)
dog
(Canis familiaris)
Mammalia ATXN2 35
  • 92.76 (n)
  • 92.94 (a)
ATXN2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atxn2 16
Atxn2 35
  • 89.2 (n)
  • 91.82 (a)
Atxn2 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ATXN2 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ATXN2 36
  • 92 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Atxn2 35
  • 89.82 (n)
  • 94.28 (a)
chicken
(Gallus gallus)
Aves ATXN2 36
  • 87 (a)
OneToOne
ATXN2 35
  • 84.52 (n)
  • 89.38 (a)
lizard
(Anolis carolinensis)
Reptilia ATXN2 36
  • 82 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7312 35
tropical clawed frog
(Silurana tropicalis)
Amphibia atxn2 35
  • 76.25 (n)
  • 80.91 (a)
Str.4025 35
zebrafish
(Danio rerio)
Actinopterygii atxn2 36
  • 62 (a)
OneToOne
atxn2 35
  • 64.24 (n)
  • 65.44 (a)
fruit fly
(Drosophila melanogaster)
Insecta Atx2 36
  • 14 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea atx-2 36
  • 18 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PBP1 36
  • 18 (a)
OneToMany
PBP1 38
Species with no ortholog for ATXN2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ATXN2 Gene

ENSEMBL:
Gene Tree for ATXN2 (if available)
TreeFam:
Gene Tree for ATXN2 (if available)

Paralogs for ATXN2 Gene

Paralogs for ATXN2 Gene

genes like me logo Genes that share paralogs with ATXN2: view

Variants for ATXN2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN2 Gene

Q99700-ATX2_HUMAN
The poly-Gln region of ATXN2 is polymorphic: 17 to 29 repeats are found in the normal population. Higher numbers of repeats result in different disease phenotypes depending on the length of the expansion.

Sequence variations from dbSNP and Humsavar for ATXN2 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
VAR_047629 -
rs7969300 - 111,555,908(+) TGTTA(C/T)TGTTT intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs10661 -- 111,452,717(-) atttt(G/T)ttttt nc-transcript-variant, utr-variant-3-prime
rs587914 -- 111,505,200(-) acaga(A/G)tctcg intron-variant
rs587949 -- 111,511,784(-) AAAAA(A/T)TTTAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ATXN2 Gene

Variant ID Type Subtype PubMed ID
nsv832513 CNV Gain 17160897
nsv899519 CNV Gain 21882294
nsv899521 CNV Loss 21882294
nsv510319 CNV Loss 20534489
esv26285 CNV Loss 19812545
dgv313e199 CNV Deletion 23128226
esv27842 CNV Loss 19812545
esv2660345 CNV Deletion 23128226
esv28414 CNV Loss 19812545

Variation tolerance for ATXN2 Gene

Residual Variation Intolerance Score: 10.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.09; 96.90% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ATXN2 Gene

HapMap Linkage Disequilibrium report
ATXN2
Human Gene Mutation Database (HGMD)
ATXN2

Disorders for ATXN2 Gene

MalaCards: The human disease database

(21) MalaCards diseases for ATXN2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
spinocerebellar ataxia 2
  • amyotrophic lateral sclerosis 13
parkinson disease, late-onset
  • parkinson disease
atxn2-related parkinson disease susceptibility
  • parkinson disease, late-onset, susceptibility
parkinson disease susceptibility
spinocerebellar ataxia 7
  • spinocerebellar ataxia type 7
- elite association - COSMIC cancer census association via MalaCards
Search ATXN2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATX2_HUMAN
  • Spinocerebellar ataxia 2 (SCA2) [MIM:183090]: Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the brainstem and spinal cord. 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 characterized by hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. In some patients, SCA2 presents as pure familial parkinsonism without cerebellar signs. {ECO:0000269 PubMed:8896555, ECO:0000269 PubMed:8896556, ECO:0000269 PubMed:8896557}. Note=The disease is caused by mutations affecting the gene represented in this entry. SCA2 is caused by expansion of a CAG repeat resulting in about 36 to 52 repeats in some patients. Longer expansions result in earlier the expansion, onset of the disease.
  • Amyotrophic lateral sclerosis 13 (ALS13) [MIM:183090]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:20740007}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. An increased risk for developing amyotrophic lateral sclerosis seems to be conferred by CAG repeat intermediate expansions greater than 23 but below the threshold for developing spinocerebellar ataxia.

Relevant External Links for ATXN2

Genetic Association Database (GAD)
ATXN2
Human Genome Epidemiology (HuGE) Navigator
ATXN2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ATXN2
genes like me logo Genes that share disorders with ATXN2: view

No data available for Genatlas for ATXN2 Gene

Publications for ATXN2 Gene

  1. Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes. (PMID: 16835262) Satterfield T.F. … Pallanck L.J. (Hum. Mol. Genet. 2006) 3 4 23 67
  2. Structural basis of binding of P-body-associated proteins GW182 and ataxin-2 by the Mlle domain of poly(A)-binding protein. (PMID: 20181956) Kozlov G. … Gehring K. (J. Biol. Chem. 2010) 3 23
  3. Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity. (PMID: 20016785) Figueroa K.P. … Pulst S.M. (PLoS ONE 2009) 3 23
  4. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PMID: 19235102) Rajkiewicz M. … Zaremba J. (Neurol. Neurochir. Pol. 2008) 3 23
  5. Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. (PMID: 18602463) Nonis D. … Auburger G. (Cell. Signal. 2008) 3 23

Products for ATXN2 Gene

Sources for ATXN2 Gene

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