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Aliases for ATXN2 Gene

Aliases for ATXN2 Gene

  • Ataxin 2 2 3
  • SCA2 3 4 6
  • ATX2 3 4 6
  • Trinucleotide Repeat-Containing Gene 13 Protein 3 4
  • Spinocerebellar Ataxia Type 2 Protein 3 4
  • TNRC13 3 4
  • ASL13 3 6
  • Spinocerebellar Ataxia 2 (Olivopontocerebellar Ataxia 2, Autosomal Dominant, Ataxin 2) 2
  • Trinucleotide Repeat Containing 13 2
  • Ataxin-2 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

  • The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). 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 caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010]

GeneCards Summary for ATXN2 Gene

ATXN2 (Ataxin 2) is a Protein Coding gene. Diseases associated with ATXN2 include spinocerebellar ataxia 2 and olivopontocerebellar atrophy. Among its related pathways are Akt Signaling and Parkinsons Disease Pathway. GO annotations related to this gene include RNA binding and epidermal growth factor receptor 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

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for ATXN2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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. Interacts with RBFOX1. Interacts with polyribosomes. Interacts with SH3GL2 and SH3GL3. Interacts with SH3KBP1 and CBL (By similarity). Interacts with EGFR.

    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

No data available for DME Specific Peptides for ATXN2 Gene

Domains for ATXN2 Gene

Gene Families for ATXN2 Gene

HGNC:

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 :
  • Q99700
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:0003723 RNA binding NAS 10814712
GO:0005154 epidermal growth factor receptor binding IPI 18602463
GO:0005515 protein binding IPI 10814712
GO:0008022 protein C-terminus binding IPI 15663938
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with ATXN2: view
genes like me logo Genes that share phenotypes with ATXN2: view

Animal Models for ATXN2 Gene

MGI Knock Outs for ATXN2:

Animal Model Products

CRISPR Products

miRNA for ATXN2 Gene

miRTarBase miRNAs that target ATXN2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATXN2

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting 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 4
cytosol 3
mitochondrion 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ATXN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA --
GO:0005794 Golgi apparatus IDA 12812977
GO:0005802 trans-Golgi network IDA 10814712
genes like me logo Genes that share ontologies with ATXN2: view

Pathways for ATXN2 Gene

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

Pathways by source for ATXN2 Gene

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

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for ATXN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002091 negative regulation of receptor internalization IMP 18602463
GO:0006417 regulation of translation NAS 16835262
GO:0008219 cell death --
GO:0010603 regulation of cytoplasmic mRNA processing body assembly IBA --
GO:0016070 RNA metabolic process NAS 15663938
genes like me logo Genes that share ontologies with ATXN2: view

Compounds for ATXN2 Gene

(2) Novoseek inferred chemical compound relationships for ATXN2 Gene

Compound -log(P) Hits PubMed IDs
glutamine 75.1 28
polyacrylamide 28.3 1
genes like me logo Genes that share compounds with ATXN2: view

Transcripts for ATXN2 Gene

mRNA/cDNA for ATXN2 Gene

(7) Additional mRNA sequences :
(1) REFSEQ mRNAs :
(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:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ATXN2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for ATXN2

Flow Cytometry Products

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

Integrated Proteomics: protein expression 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 expressions with ATXN2: view

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 35
  • 92.45 (n)
  • 93.66 (a)
ATXN2 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ATXN2 35
  • 92.76 (n)
  • 92.94 (a)
ATXN2 36
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Atxn2 35
  • 89.2 (n)
  • 91.82 (a)
Atxn2 16
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 35
  • 84.52 (n)
  • 89.38 (a)
ATXN2 36
  • 87 (a)
OneToOne
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 35
  • 64.24 (n)
  • 65.44 (a)
atxn2 36
  • 62 (a)
OneToOne
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 MAF
rs10661 -- 111,452,717(-) atttt(G/T)ttttt utr-variant-3-prime
rs583140 -- 111,548,150(-) agtgg(C/T)gtgat intron-variant
rs587914 -- 111,505,200(-) acaga(A/G)tctcg intron-variant
rs587949 -- 111,511,784(-) AAAAA(A/T)TTTAA intron-variant
rs593226 -- 111,556,082(-) GTGCA(C/T)AGGTA 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

Relevant External Links for ATXN2 Gene

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

Disorders for ATXN2 Gene

(1) OMIM Diseases for ATXN2 Gene (601517)

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.

(21) Novoseek inferred disease relationships for ATXN2 Gene

Disease -log(P) Hits PubMed IDs
spinocerebellar ataxia type 2 98.8 49
spinocerebellar ataxias 90.6 8
sca12 88.8 3
drpla 87.8 14
sca17 85.4 5

Relevant External Links for ATXN2

GeneTests
ATXN2
GeneReviews
ATXN2
Genetic Association Database (GAD)
ATXN2
Human Genome Epidemiology (HuGE) Navigator
ATXN2
genes like me logo Genes that share disorders with ATXN2: view

Publications for ATXN2 Gene

  1. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. (PMID: 8896556) Sanpei K. … Tsuji S. (Nat. Genet. 1996) 3 4 23
  2. Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1. (PMID: 9480749) Sahba S. … Pulst S.-M. (Genomics 1998) 3 4 23
  3. A novel protein with RNA-binding motifs interacts with ataxin-2. (PMID: 10814712) Shibata H. … Pulst S.-M. (Hum. Mol. Genet. 2000) 3 4 23
  4. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. (PMID: 15148151) Brusco A. … Taroni F. (Arch. Neurol. 2004) 3 23 48
  5. 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

Products for ATXN2 Gene

Sources for ATXN2 Gene

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