ATXN2 Gene (Protein Coding)

Ataxin 2

GC12M111443
GIFtS:
43
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... See more...

Aliases for ATXN2 Gene

Aliases for ATXN2 Gene

  • Ataxin 2 2 3 5
  • ATX2 2 3 4
  • Trinucleotide Repeat-Containing Gene 13 Protein 3 4
  • Spinocerebellar Ataxia Type 2 Protein 3 4
  • Ataxin-2 3 4
  • TNRC13 3 4
  • SCA2 3 4
  • Spinocerebellar Ataxia 2 (Olivopontocerebellar Ataxia 2, Autosomal Dominant, Ataxin 2) 2
  • Trinucleotide Repeat Containing 13 2
  • ATXN2 5

External Ids for ATXN2 Gene

Previous HGNC Symbols for ATXN2 Gene

  • SCA2
  • TNRC13

Previous GeneCards Identifiers for ATXN2 Gene

  • GC12M110352
  • GC12M111890
  • GC12M108904
  • GC12M111452

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 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]

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 Pathways of neurodegeneration - multiple diseases and Akt Signaling. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding. An important paralog of this gene is ATXN2L.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for ATXN2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATXN2 Gene

Genomics for ATXN2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ATXN2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATXN2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATXN2

Top Transcription factor binding sites by QIAGEN in the ATXN2 gene promoter:
  • TBP
  • TFIID

Genomic Locations for ATXN2 Gene

Latest Assembly
chr12:111,443,485-111,599,676
(GRCh38/hg38)
Size:
156,192 bases
Orientation:
Minus strand

Previous Assembly
chr12:111,890,018-112,037,477
(GRCh37/hg19 by Entrez Gene)
Size:
147,460 bases
Orientation:
Minus strand

chr12:111,890,018-112,037,480
(GRCh37/hg19 by Ensembl)
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 Structure • Gene Density

RefSeq DNA sequence for ATXN2 Gene

Proteins for ATXN2 Gene

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  • 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

Protein Expression for ATXN2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ATXN2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ATXN2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for ATXN2 Gene

Domains & Families for ATXN2 Gene

Gene Families for ATXN2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for ATXN2 Gene

InterPro:
Blocks:
  • Ataxin-2, C-terminal
  • Ataxin-2, N-terminal

Suggested Antigen Peptide Sequences for ATXN2 Gene

GenScript: Design optimal peptide antigens:
  • Trinucleotide repeat-containing gene 13 protein (ATX2_HUMAN)
  • ATXN2 protein (Q2M2R5_HUMAN)

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

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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.

Phenotypes From GWAS Catalog for ATXN2 Gene

Gene Ontology (GO) - Molecular Function for ATXN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IBA,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
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 Models for research

miRNA for ATXN2 Gene

miRTarBase miRNAs that target ATXN2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN2

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ATXN2 gene
Compartment Confidence
cytosol 5
golgi apparatus 5
nucleus 4
mitochondrion 3
plasma membrane 2
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATXN2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 10814712
GO:0005794 Golgi apparatus IDA 12812977
GO:0005802 trans-Golgi network IDA 10814712
GO:0005829 cytosol IDA --
GO:0005844 polysome IDA 16835262
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

2 BioSystems pathways for ATXN2 Gene
2 Qiagen pathways for ATXN2 Gene
  • Akt Signaling
  • Parkinson's Disease Pathway

SIGNOR curated interactions for ATXN2 Gene

Is inactivated by:
Other effect:

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:0010603 regulation of cytoplasmic mRNA processing body assembly IBA 21873635
GO:0016070 RNA metabolic process NAS 15663938
GO:0033962 cytoplasmic mRNA processing body assembly IMP 17392519
genes like me logo Genes that share ontologies with ATXN2: view

Drugs & Compounds for ATXN2 Gene

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(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

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mRNA/cDNA for ATXN2 Gene

4 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
43 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN2

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

No ASD Table

Relevant External Links for ATXN2 Gene

GeneLoc Exon Structure for
ATXN2

Expression for ATXN2 Gene

Products:

  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATXN2 Gene

mRNA expression in normal human tissues for ATXN2 Gene
mRNA expression by BioGPS for ATXN2 GenemRNA expression by GTEx 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, MaxQB, and MOPED for ATXN2 Gene



Protein tissue co-expression partners for ATXN2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATXN2

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.

Evidence on tissue expression from TISSUES for ATXN2 Gene

  • Liver(4.4)
  • Nervous system(4.3)
  • Eye(2.6)
  • Skin(2.4)
  • Muscle(2.4)
  • Kidney(2.3)
  • Heart(2.2)
  • Blood(2.1)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATXN2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • eye
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • bronchus
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • scapula
  • trachea
Abdomen:
  • biliary tract
  • liver
  • stomach
Pelvis:
  • urinary bladder
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with ATXN2: view

Primer products for research

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 29 30
  • 99.7 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ATXN2 29 30
  • 92.76 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ATXN2 29 30
  • 92.45 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia ATXN2 30
  • 92 (a)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Atxn2 29
  • 89.82 (n)
Mouse
(Mus musculus)
 Mammalia Atxn2 29 16 30
  • 89.2 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ATXN2 30
  • 79 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves ATXN2 29 30
  • 84.52 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ATXN2 30
  • 82 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia atxn2 29
  • 76.25 (n)
Str.4025 29
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7312 29
Zebrafish
(Danio rerio)
 Actinopterygii atxn2 29 30
  • 64.24 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Atx2 30
  • 14 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea atx-2 30
  • 18 (a)
 OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes PBP1 30
  • 18 (a)
 OneToMany
Species where no ortholog for ATXN2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for ATXN2: view image
Alliance of Genome Resources:
Additional Orthologs for ATXN2

Paralogs for ATXN2 Gene

Paralogs for ATXN2 Gene

(1) SIMAP similar genes for ATXN2 Gene using alignment to 14 proteins:

  • ATX2_HUMAN
  • F8VQP2_HUMAN
  • F8VRK6_HUMAN
  • F8VVY6_HUMAN
  • F8VZC1_HUMAN
  • F8W0B5_HUMAN
  • F8WB05_HUMAN
  • F8WB06_HUMAN
  • H0YH87_HUMAN
  • Q24JQ7_HUMAN
  • Q2M2R5_HUMAN
  • S4R3J6_HUMAN
  • S4R3R6_HUMAN
  • V9GY86_HUMAN
genes like me logo Genes that share paralogs with ATXN2: view

Variants for ATXN2 Gene

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Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN2 Gene

ATX2_HUMAN-Q99700
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATXN2 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1033959 Pathogenic: Spinocerebellar ataxia type 2 111,599,058(-) C/A
NM_001372574.1(ATXN2):c.-24G>T 		NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON
1033960 Pathogenic: Spinocerebellar ataxia type 2 111,598,994(-) TGCTGC/T
NM_001372574.1(ATXN2):c.36_40del (p.Gln13fs) 		FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
1033961 Pathogenic: Spinocerebellar ataxia type 2 111,598,976(-) TGTTGCTGCTGC/T
NM_001372574.1(ATXN2):c.48_58del (p.Gln17fs) 		FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
1033962 Pathogenic: Spinocerebellar ataxia type 2 111,598,976(-) TGTTGCTGC/T
NM_001372574.1(ATXN2):c.51_58del (p.Gln18fs) 		FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON
930922 Uncertain Significance: Spinocerebellar ataxia type 2 111,509,563(-) T/G
NM_001372574.1(ATXN2):c.1921A>C (p.Lys641Gln) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATXN2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv2866n54 CNV loss 21841781
dgv2867n54 CNV loss 21841781
dgv2868n54 CNV loss 21841781
dgv2869n54 CNV loss 21841781
dgv2870n54 CNV loss 21841781
dgv2871n54 CNV loss 21841781
dgv2872n54 CNV loss 21841781
dgv2873n54 CNV loss 21841781
dgv313e199 CNV deletion 23128226
dgv869n106 CNV deletion 24896259
esv26285 CNV loss 19812545
esv2660345 CNV deletion 23128226
esv27842 CNV loss 19812545
esv28414 CNV loss 19812545
esv3549772 CNV deletion 23714750
esv3580465 CNV loss 25503493
esv3630756 CNV loss 21293372
esv3630757 CNV loss 21293372
esv3630758 CNV loss 21293372
esv3630759 CNV loss 21293372
nsv1070128 CNV deletion 25765185
nsv1143571 CNV deletion 24896259
nsv510319 OTHER sequence alteration 20534489
nsv832513 CNV gain 17160897
nsv973118 CNV duplication 23825009
nsv983493 CNV duplication 23825009

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)

Additional Variant Information for ATXN2 Gene

Human Gene Mutation Database (HGMD)
ATXN2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATXN2
Leiden Open Variation Database (LOVD)
ATXN2

SNP Genotyping and Copy Number Assays for research

Disorders for ATXN2 Gene

MalaCards: The human disease database

(45) MalaCards diseases for ATXN2 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
spinocerebellar ataxia 2
  • sca2
parkinson disease, late-onset
  • pd
lateral sclerosis
  • adult-onset primary lateral sclerosis
machado-joseph disease
  • mjd
olivopontocerebellar atrophy
  • dejerine-thomas syndrome
- 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 variants 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 variants 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.

Additional Disease Information for ATXN2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ATXN2: view

No data available for Genatlas for ATXN2 Gene

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 (Nature genetics 1996) 3 4 22 72
  2. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. (PMID: 20740007) Elden AC … Gitler AD (Nature 2010) 3 4 72
  3. Genetic variance in the spinocerebellar ataxia type 2 (ATXN2) gene in children with severe early onset obesity. (PMID: 20016785) Figueroa KP … Pulst SM (PloS one 2009) 3 22 40
  4. Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. (PMID: 18602463) Nonis D … Auburger G (Cellular signalling 2008) 3 4 22
  5. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PMID: 19235102) Rajkiewicz M … Zaremba J (Neurologia i neurochirurgia polska 2008) 3 22 40

ExternalLinks

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