Aliases for ATXN2 Gene
Aliases for ATXN2 Gene
External Ids for ATXN2 Gene
- HGNC: 10555
- Entrez Gene: 6311
- Ensembl: ENSG00000204842
- OMIM: 601517
- UniProtKB: Q99700
Previous HGNC Symbols for ATXN2 Gene
- SCA2
- TNRC13
Previous GeneCards Identifiers for ATXN2 Gene
- GC12M110352
- GC12M111890
- GC12M108904
- GC12M111452
Summaries 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 Akt Signaling and EGF/EGFR Signaling Pathway. Gene Ontology (GO) annotations related to this gene include 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.
Additional gene information for ATXN2 Gene
- Monarch Initiative
- Search for ATXN2 at DataMed
- Search for ATXN2 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ATXN2 Gene
Genomics for ATXN2 Gene
GeneHancer (GH) Regulatory Elements for ATXN2 Gene
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 UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the ATXN2 gene promoter:
-
- TBP
- TFIID
Regulatory Element Products
Genomic Locations for ATXN2 Gene
Genomic Locations for ATXN2 Gene
- chr12:111,443,485-111,599,676
- (GRCh38/hg38)
- Size:
- 156,192 bases
- Orientation:
- Minus strand
- chr12:111,890,018-112,037,480
- (GRCh37/hg19)
- 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:
-
- 12q24.12 by Entrez Gene
- 12q24.12 by HGNC
- 12q24.12 by Ensembl
ATXN2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for ATXN2 Gene
Post-translational modifications for ATXN2 Gene
Other Protein References for ATXN2 Gene
- ENSEMBL proteins:
-
- ENSP00000481448
- ENSP00000447225
- ENSP00000373805
- ENSP00000496329
- ENSP00000373806
- ENSP00000474442
- ENSP00000474645
- ENSP00000366843
- ENSP00000495833
- ENSP00000448640
- ENSP00000496055
- ENSP00000447741
- ENSP00000446512
- ENSP00000476504
- ENSP00000446576
- ENSP00000496279
- ENSP00000493566
- ENSP00000493897
- ENSP00000439338
- ENSP00000449566
- ENSP00000494663
- ENSP00000445583
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for ATXN2
- Novus Biologicals Antibodies for ATXN2
- Invitrogen Antibodies for ATXN2 (AFLGC-ATXN2)
- GeneTex ATXN2 Antibody for ATXN2
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATXN2
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for ATXN2
- Origene Custom Protein Services for ATXN2
- Novus Biologicals proteins for ATXN2
- Search GeneTex for Proteins for ATXN2
-
Abcam proteins for ATXN2
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
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ATXN2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q99700- Family:
-
- Belongs to the ataxin-2 family.
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.
Phenotypes From GWAS Catalog for ATXN2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003723 | RNA binding | NAS,IBA | 10814712 |
| GO:0005154 | epidermal growth factor receptor binding | IPI | 18602463 |
| GO:0005515 | protein binding | IPI | 10814712 |
| GO:0008022 | protein C-terminus binding | IPI | 15663938 |
Phenotypes for ATXN2 Gene
- MGI mutant phenotypes for ATXN2:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ATXN2:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for ATXN2
-
CRISPR Products
-
OriGene CRISPR knockouts for ATXN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATXN2
- genomics-online: gRNA clones - Search results for 77 available Ataxin 2 gene related products
- Overview of 77 available Ataxin 2 gene related products
- Applied Biological Materials CRISPR for ATXN2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATXN2
- GenScript: Design CRISPR guide RNA sequences for ATXN2
miRNA for ATXN2 Gene
- miRTarBase miRNAs that target ATXN2
-
- hsa-mir-1226-3p (MIRT036445)
- hsa-let-7b-5p (MIRT052164)
- hsa-mir-374b-3p (MIRT624624)
- hsa-mir-4524b-5p (MIRT624625)
- hsa-mir-4524a-5p (MIRT624626)
- hsa-mir-4519 (MIRT624627)
- hsa-mir-4274 (MIRT624628)
- hsa-mir-6796-5p (MIRT689699)
- hsa-mir-4507 (MIRT689700)
- hsa-mir-3940-5p (MIRT689701)
- hsa-mir-6819-5p (MIRT689702)
- hsa-mir-6812-5p (MIRT689703)
- hsa-mir-6737-5p (MIRT689704)
- hsa-mir-6793-5p (MIRT689705)
- hsa-mir-6742-5p (MIRT689706)
- hsa-mir-4472 (MIRT689707)
- hsa-mir-4447 (MIRT689708)
- hsa-mir-3151-5p (MIRT689709)
- hsa-mir-491-5p (MIRT689710)
- hsa-mir-6769b-5p (MIRT689711)
- hsa-mir-6769a-5p (MIRT689712)
- hsa-mir-6766-5p (MIRT689713)
- hsa-mir-6756-5p (MIRT689714)
- hsa-mir-6747-5p (MIRT689715)
- hsa-mir-608 (MIRT689716)
- hsa-mir-4651 (MIRT689717)
- hsa-mir-4664-5p (MIRT689718)
- hsa-mir-342-5p (MIRT689719)
- hsa-mir-6508-3p (MIRT689720)
- hsa-mir-4726-5p (MIRT689721)
- hsa-mir-4640-5p (MIRT689722)
- hsa-mir-202-3p (MIRT689723)
- hsa-mir-98-5p (MIRT689724)
- hsa-mir-4500 (MIRT689725)
- hsa-mir-4458 (MIRT689726)
- hsa-let-7i-5p (MIRT689727)
- hsa-let-7g-5p (MIRT689728)
- hsa-let-7f-5p (MIRT689729)
- hsa-let-7e-5p (MIRT689730)
- hsa-let-7d-5p (MIRT689731)
- hsa-let-7c-5p (MIRT689732)
- hsa-let-7a-5p (MIRT689733)
- hsa-mir-6823-3p (MIRT689734)
- hsa-mir-2114-3p (MIRT689735)
- hsa-mir-7162-3p (MIRT689736)
- hsa-mir-544b (MIRT689737)
- hsa-mir-299-3p (MIRT689738)
- hsa-mir-4293 (MIRT689739)
- hsa-mir-1273g-3p (MIRT783327)
- hsa-mir-141-5p (MIRT783789)
- hsa-mir-181a-2-3p (MIRT783942)
- hsa-mir-2682-3p (MIRT784353)
- hsa-mir-3691-3p (MIRT785282)
- hsa-mir-4436b-5p (MIRT785871)
- hsa-mir-4746-5p (MIRT786600)
- hsa-mir-6509-3p (MIRT788264)
- hsa-mir-6781-3p (MIRT788706)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATXN2
- Browse OriGene Inhibitory RNA Products For ATXN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN2
- genomics-online: shRNA clones - Search results for 77 available Ataxin 2 gene related products
- Overview of 77 available Ataxin 2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ATXN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATXN2
- Applied Biological Materials Clones for ATXN2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| golgi apparatus | 5 |
| cytosol | 4 |
| mitochondrion | 3 |
| nucleus | 3 |
| endoplasmic reticulum | 1 |
- Cytosol (4)
| 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 |
Pathways & Interactions for ATXN2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Akt Signaling |
.60
|
|
| 2 | Chks in Checkpoint Regulation | ||
| 3 | EGF/EGFR Signaling Pathway | ||
| 4 | Parkinsons Disease Pathway | ||
Pathways by source for ATXN2 Gene
2 BioSystems pathways for ATXN2 Gene
2 Qiagen pathways for ATXN2 Gene
Interacting Proteins for ATXN2 Gene
Selected Interacting proteins:
Q99700-ATX2_HUMAN
ENSP00000366843
for ATXN2 Gene via
UniProtKB
STRING
MINT
IID
GPS-Prot Interaction Network for ATXN2
| 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 | -- |
| GO:0016070 | RNA metabolic process | NAS | 15663938 |
| GO:0033962 | cytoplasmic mRNA processing body assembly | IMP | 17392519 |
Transcripts for ATXN2 Gene
mRNA/cDNA for ATXN2 Gene
- (3) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (236) Selected AceView cDNA sequences:
- (35) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000642389 2167 bps
- ENST00000389154 1794 bps (uc058tgz.1)
- ENST00000389153 3854 bps (uc058tha.1)
- ENST00000608853 4376 bps (uc058thb.1)
- ENST00000377617 4702 bps (uc001tsj.3)
CRISPR Products
-
OriGene CRISPR knockouts for ATXN2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATXN2
- genomics-online: gRNA clones - Search results for 77 available Ataxin 2 gene related products
- Overview of 77 available Ataxin 2 gene related products
- Applied Biological Materials CRISPR for ATXN2
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATXN2
- GenScript: Design CRISPR guide RNA sequences for ATXN2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATXN2
- Browse OriGene Inhibitory RNA Products For ATXN2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN2
- genomics-online: shRNA clones - Search results for 77 available Ataxin 2 gene related products
- Overview of 77 available Ataxin 2 gene related products
Clone Products
- Sino Biological Human cDNA Clone for ATXN2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATXN2
- Applied Biological Materials Clones for ATXN2
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression 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
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ATXN2 Gene:
ATXN2SOURCE GeneReport for Unigene cluster for ATXN2 Gene:
Hs.76253mRNA 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
- Nervous system(4.3)
- Liver(4.2)
- 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
Primer Products
-
OriGene qPCR primer pairs for ATXN2
- genomics-online: primer clones - Search results for 77 available Ataxin 2 gene related products
- Overview of 77 available Ataxin 2 gene related products
Gene Expression 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ATXN2 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | ATXN2 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | ATXN2 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | ATXN2 34 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Atxn2 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Atxn2 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ATXN2 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ATXN2 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | ATXN2 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | atxn2 33 |
|
||
| Str.4025 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7312 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | atxn2 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | Atx2 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | atx-2 34 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | PBP1 36 34 |
|
- Species where no ortholog for ATXN2 was found in the sources mined by GeneCards:
-
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATXN2: view image
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
Variants for ATXN2 Gene
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.
| SNP ID | Clin | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs4098854 | likely-benign, not specified | 111,598,993(-) | C/T | coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant | |
| rs695871 | likely-benign, not specified | 111,599,196(-) | G/C | coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant | |
| rs695872 | likely-benign, not specified | 111,599,125(-) | G/A | coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant | |
| rs140262591 | uncertain-significance, not specified | 111,470,741(-) | T/C | coding_sequence_variant, non_coding_transcript_variant, synonymous_variant | |
| rs148325045 | uncertain-significance, not specified | 111,519,925(-) | C/T | coding_sequence_variant, missense_variant, non_coding_transcript_variant |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
Disorders for ATXN2 Gene
(20) MalaCards diseases for ATXN2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinocerebellar ataxia 2 |
|
|
| parkinson disease, late-onset |
|
|
| machado-joseph disease |
|
|
| dentatorubral-pallidoluysian atrophy |
|
|
| olivopontocerebellar atrophy |
|
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.
Additional Disease Information for ATXN2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for ATXN2 Gene
Publications for ATXN2 Gene
- 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 44 58
- Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. (PMID: 18602463) Nonis D … Auburger G (Cellular signalling 2008) 3 4 22 58
- 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 44 58
- Lack of mutations in spinocerebellar ataxia type 2 and 3 genes in a Taiwanese (ethnic Chinese) cohort of familial and early-onset parkinsonism. (PMID: 17440947) Lin CH … Wu RM (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2007) 3 22 44 58
- Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes. (PMID: 16835262) Satterfield TF … Pallanck LJ (Human molecular genetics 2006) 3 4 22 58
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