Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alte... See more...

Aliases for ATXN3 Gene

Aliases for ATXN3 Gene

  • Ataxin 3 2 3 5
  • ATX3 2 3 4
  • Spinocerebellar Ataxia Type 3 Protein 3 4
  • Machado-Joseph Disease Protein 1 3 4
  • Ataxin-3 3 4
  • MJD1 3 4
  • SCA3 3 4
  • JOS 2 3
  • MJD 3 4
  • Machado-Joseph Disease (Spinocerebellar Ataxia 3, Olivopontocerebellar Ataxia 3, Autosomal Dominant, Ataxin 3) 2
  • Olivopontocerebellar Ataxia 3 3
  • EC 3.4.19.12 4
  • EC 3.4.22 50
  • Josephin 3
  • ATXN3 5
  • AT3 3

External Ids for ATXN3 Gene

Previous HGNC Symbols for ATXN3 Gene

  • SCA3
  • MJD

Previous GeneCards Identifiers for ATXN3 Gene

  • GC14M091599
  • GC14M092524
  • GC14M072705
  • GC14M092040
  • GC14M092334
  • GC14M092430
  • GC14M092452
  • GC14M093534
  • GC14M092041
  • GC14M092156
  • GC14M092241
  • GC14M094059
  • GC14M094580

Summaries for ATXN3 Gene

Entrez Gene Summary for ATXN3 Gene

  • Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]

GeneCards Summary for ATXN3 Gene

ATXN3 (Ataxin 3) is a Protein Coding gene. Diseases associated with ATXN3 include Machado-Joseph Disease and Machado-Joseph Disease Type 1. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Akt Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and thiol-dependent ubiquitin-specific protease activity. An important paralog of this gene is ATXN3L.

UniProtKB/Swiss-Prot Summary for ATXN3 Gene

  • Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:17696782, PubMed:23625928, PubMed:28445460, PubMed:16118278). Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins (PubMed:17696782). Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (By similarity). Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription (PubMed:12297501). Regulates autophagy via the deubiquitination of 'Lys-402' of BECN1 leading to the stabilization of BECN1 (PubMed:28445460).

Gene Wiki entry for ATXN3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATXN3 Gene

Genomics for ATXN3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATXN3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J092105 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 276.7 +0.7 668 2.7 BCLAF1 SP1 ZNF654 ZNF600 IKZF1 SSRP1 POLR2A ZIC2 ZBTB10 CTCF ATXN3 lnc-NDUFB1-1 PPP4R3A CPSF2 NDUFB1 TRIP11 RIN3 SLC24A4 CATSPERB piR-35674-152
GH14J092107 Promoter/Enhancer 1 Ensembl ENCODE 264.8 -1.9 -1922 1.4 POLR2A SMAD5 TBP HOMEZ SAP130 YY1 EBF1 DRAP1 PRDM10 GTF2F1 ATXN3 lnc-NDUFB1-1 RF00017-1499 NDUFB1
GH14J092116 Promoter/Enhancer 0.6 EPDnew Ensembl 261.5 -9.9 -9880 1 SPI1 ATXN3 RF00017-1499 CPSF2 NDUFB1 TRIP11 lnc-ATXN3-2 lnc-NDUFB1-1
GH14J092038 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 30.7 +66.8 66821 4 BCLAF1 ZNF207 MYC ZNF600 POLR2A YY1 MXD4 SMAD5 KLF11 SIN3A TRIP11 lnc-CPSF2-5 lnc-ATXN3-4 piR-43843 ATXN3 PPP4R3A CPSF2 GOLGA5 TC2N CATSPERB
GH14J092792 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 28.2 -687.8 -687779 3.6 BCLAF1 SP1 ZNF207 MYC SSRP1 KLF9 POLR2A CEBPA BRCA1 ZIC2 GOLGA5 ATXN3 CPSF2 BTBD7 TRIP11 HSALNG0103285 CHGA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATXN3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATXN3

Top Transcription factor binding sites by QIAGEN in the ATXN3 gene promoter:
  • TBP
  • TFIID

Genomic Locations for ATXN3 Gene

Latest Assembly
chr14:92,044,496-92,106,621
(GRCh38/hg38)
Size:
62,126 bases
Orientation:
Minus strand

Previous Assembly
chr14:92,524,896-92,572,926
(GRCh37/hg19 by Entrez Gene)
Size:
48,031 bases
Orientation:
Minus strand

chr14:92,524,896-92,572,965
(GRCh37/hg19 by Ensembl)
Size:
48,070 bases
Orientation:
Minus strand

Genomic View for ATXN3 Gene

Genes around ATXN3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATXN3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATXN3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATXN3 Gene

Proteins for ATXN3 Gene

  • Protein details for ATXN3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54252-ATX3_HUMAN
    Recommended name:
    Ataxin-3
    Protein Accession:
    P54252
    Secondary Accessions:
    • A7LFZ5
    • D6RDL9
    • E9PB63
    • O15284
    • O15285
    • O15286
    • Q8N189
    • Q96TC3
    • Q96TC4
    • Q9H3N0

    Protein attributes for ATXN3 Gene

    Size:
    361 amino acids
    Molecular mass:
    41250 Da
    Quaternary structure:
    • Interacts with STUB1/CHIP (when monoubiquitinated) (By similarity). Interacts with DNA repair proteins RAD23A and RAD23B (PubMed:16020535, PubMed:30455355). Interacts with BECN1 (via its poly-Gln domain) (PubMed:28445460). Interacts with PRKN, UBR2, VCP and tubulin. Short isoform 1 interacts with CASP7 (PubMed:30455355).

    Three dimensional structures from OCA and Proteopedia for ATXN3 Gene

    Alternative splice isoforms for ATXN3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ATXN3 Gene

Selected DME Specific Peptides for ATXN3 Gene

P54252:
  • RPKLIGEE
  • EGYSIFVV
  • LCAQHCLNNLLQGEYFSPVEL
  • IFHEKQEG
  • FVVKGDLPDCEADQLLQ
  • GPELISDT
  • NMDDSGFFSIQVISNALKVWGLELILFNSPEYQRL
  • WFNLNSLL

Post-translational modifications for ATXN3 Gene

  • Monoubiquitinated N-terminally by UBE2W, possibly leading to activate the deubiquitinating enzyme activity (PubMed:23696636).
  • Ubiquitination at Lys190, Lys200, Lys117, and Lys291
  • Modification sites at PhosphoSitePlus

Antibodies for research

  • Boster Bio Antibodies for ATXN3

Domains & Families for ATXN3 Gene

Gene Families for ATXN3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ATXN3 Gene

InterPro:
Blocks:
  • Ubiquitin interacting motif
  • Josephin signature

Suggested Antigen Peptide Sequences for ATXN3 Gene

GenScript: Design optimal peptide antigens:
  • Spinocerebellar ataxia type 3 protein (ATX3_HUMAN)
  • Ataxin 3 (B9W0P3_HUMAN)
  • Ataxin 3 variant ref (D3VVA7_HUMAN)
  • Ataxin 3 variant ref (D3VVA8_HUMAN)
  • Ataxin 3 variant ref (D3VVA9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P54252

UniProtKB/Swiss-Prot:

ATX3_HUMAN :
  • The UIM domains bind ubiquitin and interact with various E3 ubiquitin-protein ligase, such as STUB1/CHIP. They are essential to limit the length of ubiquitin chains (By similarity).
Domain:
  • The UIM domains bind ubiquitin and interact with various E3 ubiquitin-protein ligase, such as STUB1/CHIP. They are essential to limit the length of ubiquitin chains (By similarity).
  • The poly-Gln domain is involved in the interaction with BECN1 and subsequent starvation-induced autophagy (PubMed:28445460).
genes like me logo Genes that share domains with ATXN3: view

Function for ATXN3 Gene

Molecular function for ATXN3 Gene

UniProtKB/Swiss-Prot Function:
Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:17696782, PubMed:23625928, PubMed:28445460, PubMed:16118278). Binds long polyubiquitin chains and trims them, while it has weak or no activity against chains of 4 or less ubiquitins (PubMed:17696782). Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP: recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension (By similarity). Interacts with key regulators of transcription and represses transcription: acts as a histone-binding protein that regulates transcription (PubMed:12297501). Regulates autophagy via the deubiquitination of 'Lys-402' of BECN1 leading to the stabilization of BECN1 (PubMed:28445460).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal).; EC=3.4.19.12; Evidence={ECO:0000269|PubMed:17696782};.

Enzyme Numbers (IUBMB) for ATXN3 Gene

Phenotypes From GWAS Catalog for ATXN3 Gene

Gene Ontology (GO) - Molecular Function for ATXN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA --
GO:0004407 histone deacetylase activity IEA --
GO:0004843 thiol-dependent ubiquitin-specific protease activity IEA,ISS --
GO:0005515 protein binding IPI 16525503
GO:0008233 peptidase activity IEA --
genes like me logo Genes that share ontologies with ATXN3: view
genes like me logo Genes that share phenotypes with ATXN3: view

Human Phenotype Ontology for ATXN3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATXN3 Gene

MGI Knock Outs for ATXN3:
  • Atxn3 Atxn3<tm1.1(ATXN3)Mfig>
  • Atxn3 Atxn3<tm1a(KOMP)Wtsi>
  • Atxn3 Atxn3<tm1Isch>

miRNA for ATXN3 Gene

miRTarBase miRNAs that target ATXN3

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN3

Clone products for research

  • Addgene plasmids for ATXN3

No data available for Transcription Factor Targets and HOMER Transcription for ATXN3 Gene

Localization for ATXN3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATXN3 Gene

Nucleus matrix. Nucleus. Note=Predominantly nuclear, but not exclusively, inner nuclear matrix.

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 ATXN3 gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 4
mitochondrion 4
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ATXN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 24548080
GO:0005654 nucleoplasm IDA,TAS --
GO:0005730 nucleolus IDA --
GO:0005737 cytoplasm TAS 9124802
GO:0005759 mitochondrial matrix ISS --
genes like me logo Genes that share ontologies with ATXN3: view

Pathways & Interactions for ATXN3 Gene

genes like me logo Genes that share pathways with ATXN3: view

Pathways by source for ATXN3 Gene

3 GeneGo (Thomson Reuters) pathways for ATXN3 Gene
  • Proteolysis_Putative ubiquitin pathway
  • Regulation of degradation of deltaF508 CFTR in CF
  • Regulation of degradation of wt-CFTR
2 Qiagen pathways for ATXN3 Gene
  • Akt Signaling
  • Parkinson's Disease Pathway

Gene Ontology (GO) - Biological Process for ATXN3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IMP 20637808
GO:0006289 nucleotide-excision repair TAS 10915768
GO:0006508 proteolysis IEA --
GO:0006511 ubiquitin-dependent protein catabolic process ISS --
GO:0006515 protein quality control for misfolded or incompletely synthesized proteins ISS --
genes like me logo Genes that share ontologies with ATXN3: view

No data available for SIGNOR curated interactions for ATXN3 Gene

Drugs & Compounds for ATXN3 Gene

(3) Drugs for ATXN3 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for ATXN3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ATXN3: view

Transcripts for ATXN3 Gene

mRNA/cDNA for ATXN3 Gene

13 REFSEQ mRNAs :
422 NCBI additional mRNA sequence :
57 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 ATXN3

Clone products for research

  • Addgene plasmids for ATXN3

Alternative Splicing Database (ASD) splice patterns (SP) for ATXN3 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b
SP1: - - - -
SP2: - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - - - - - -
SP6: - - -
SP7: - - - - - - -
SP8: -
SP9: - - -
SP10:

Relevant External Links for ATXN3 Gene

GeneLoc Exon Structure for
ATXN3

Expression for ATXN3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATXN3 Gene

Protein differential expression in normal tissues from HIPED for ATXN3 Gene

This gene is overexpressed in Heart (17.0), Testis (10.9), and Peripheral blood mononuclear cells (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ATXN3 Gene



Protein tissue co-expression partners for ATXN3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATXN3

SOURCE GeneReport for Unigene cluster for ATXN3 Gene:

Hs.532632

mRNA Expression by UniProt/SwissProt for ATXN3 Gene:

P54252-ATX3_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for ATXN3 Gene

  • Nervous system(4.6)
  • Skin(2.4)
  • Kidney(2.3)
  • Muscle(2.2)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATXN3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • mouth
  • pharynx
  • tongue
Thorax:
  • esophagus
  • heart
  • heart valve
Abdomen:
  • stomach
Pelvis:
  • urinary bladder
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with ATXN3: 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 ATXN3 Gene

Orthologs for ATXN3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ATXN3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATXN3 29 30
  • 99.33 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia -- 30
  • 94 (a)
ManyToMany
ATXN3 29
  • 91.93 (n)
-- 30
  • 89 (a)
ManyToMany
-- 30
  • 85 (a)
ManyToMany
Cow
(Bos Taurus)
Mammalia ATXN3 29 30
  • 92.51 (n)
OneToMany
Mouse
(Mus musculus)
Mammalia Atxn3 29 16 30
  • 87.61 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Atxn3 29
  • 85.45 (n)
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 85 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 80 (a)
OneToMany
Chicken
(Gallus gallus)
Aves ATXN3 29 30
  • 78.77 (n)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 74 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atxn3 29
  • 72.1 (n)
Str.4713 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.3069 29
Zebrafish
(Danio rerio)
Actinopterygii atxn3 29
  • 64 (n)
ATXN3 30
  • 60 (a)
OneToMany
zgc56323 29
Worm
(Caenorhabditis elegans)
Secernentea atx-3 29 30
  • 51.07 (n)
OneToMany
Species where no ortholog for ATXN3 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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 ATXN3 Gene

ENSEMBL:
Gene Tree for ATXN3 (if available)
TreeFam:
Gene Tree for ATXN3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATXN3: view image
Alliance of Genome Resources:
Additional Orthologs for ATXN3

Paralogs for ATXN3 Gene

Paralogs for ATXN3 Gene

(1) SIMAP similar genes for ATXN3 Gene using alignment to 201 proteins:

  • ATX3_HUMAN
  • B9W0P3_HUMAN
  • C9JQV6_HUMAN
  • D3VVA7_HUMAN
  • D3VVA8_HUMAN
  • D3VVA9_HUMAN
  • D3VVB0_HUMAN
  • D3VVB1_HUMAN
  • D3VVB2_HUMAN
  • D3VVB3_HUMAN
  • D3VVB4_HUMAN
  • D3VVB5_HUMAN
  • D3VVB6_HUMAN
  • D3VVB8_HUMAN
  • D3VVB9_HUMAN
  • D3VVC0_HUMAN
  • D3VVC1_HUMAN
  • D3VVC2_HUMAN
  • D3VVC3_HUMAN
  • D3VVC4_HUMAN
  • D3VVC5_HUMAN
  • D3VVC6_HUMAN
  • D3VVC7_HUMAN
  • D3VVC8_HUMAN
  • D3VVC9_HUMAN
  • D3VVD0_HUMAN
  • D3VVD1_HUMAN
  • D3VVD2_HUMAN
  • D3VVD3_HUMAN
  • D3VVD4_HUMAN
  • D3VVD5_HUMAN
  • D3VVD6_HUMAN
  • D3VVD7_HUMAN
  • D3VVD8_HUMAN
  • D3VVD9_HUMAN
  • D3VVE0_HUMAN
  • D3VVE1_HUMAN
  • D3VVE2_HUMAN
  • D3VVE3_HUMAN
  • D3VVE4_HUMAN
  • D3VVE5_HUMAN
  • D3VVE6_HUMAN
  • D3VVE7_HUMAN
  • D3VVE8_HUMAN
  • D3VVE9_HUMAN
  • D3VVF0_HUMAN
  • D3VVF1_HUMAN
  • D3VVF2_HUMAN
  • D3VVF3_HUMAN
  • D3VVF4_HUMAN
  • D3VVF5_HUMAN
  • D3VVF6_HUMAN
  • D3VVF7_HUMAN
  • D3VVF8_HUMAN
  • D3VVF9_HUMAN
  • D3VVG0_HUMAN
  • D3VVG1_HUMAN
  • D3VVG2_HUMAN
  • D3VVG3_HUMAN
  • D3VVG4_HUMAN
  • D3VVG5_HUMAN
  • D3VVG6_HUMAN
  • D3VVG7_HUMAN
  • D3VVG8_HUMAN
  • D3VVG9_HUMAN
  • D3VVH0_HUMAN
  • D3VVH1_HUMAN
  • D3VVH2_HUMAN
  • D3VVH3_HUMAN
  • D3VVH4_HUMAN
  • D3VVH5_HUMAN
  • D3VVH6_HUMAN
  • D3VVH7_HUMAN
  • D3VVH8_HUMAN
  • D3VVH9_HUMAN
  • D3VVI0_HUMAN
  • D3VVI1_HUMAN
  • D3VVI2_HUMAN
  • D3VVI3_HUMAN
  • D3VVI4_HUMAN
  • D3VVI5_HUMAN
  • D3VVI6_HUMAN
  • D3VVI7_HUMAN
  • D3VVI8_HUMAN
  • D3VVI9_HUMAN
  • D3VVJ0_HUMAN
  • D3VVJ1_HUMAN
  • D3VVJ2_HUMAN
  • D3VVJ3_HUMAN
  • D3VVJ4_HUMAN
  • D3VVJ5_HUMAN
  • D3VVJ6_HUMAN
  • D3VVJ7_HUMAN
  • D3VVJ8_HUMAN
  • D3VVJ9_HUMAN
  • D3VVK0_HUMAN
  • D3VVK1_HUMAN
  • D3VVK2_HUMAN
  • D3VVK3_HUMAN
  • D3VVK4_HUMAN
  • D3VVK5_HUMAN
  • D3VVK6_HUMAN
  • D3VVK7_HUMAN
  • D3VVK8_HUMAN
  • D3VVK9_HUMAN
  • D3VVL0_HUMAN
  • D3VVL1_HUMAN
  • D3VVL2_HUMAN
  • D3VVL3_HUMAN
  • D3VVL4_HUMAN
  • D3VVL5_HUMAN
  • D3VVL6_HUMAN
  • D3VVL7_HUMAN
  • D3VVL8_HUMAN
  • D3VVL9_HUMAN
  • D3VVM0_HUMAN
  • D3VVM1_HUMAN
  • D3VVM2_HUMAN
  • D3VVM3_HUMAN
  • D3VVM4_HUMAN
  • D3VVM5_HUMAN
  • D3VVM6_HUMAN
  • D3VVM7_HUMAN
  • D3VVM8_HUMAN
  • D3VVM9_HUMAN
  • D3VVN0_HUMAN
  • D3VVN1_HUMAN
  • D3VVN2_HUMAN
  • D3VVN3_HUMAN
  • D3VVN4_HUMAN
  • D3VVN5_HUMAN
  • D3VVN6_HUMAN
  • D3VVN7_HUMAN
  • D3VVN8_HUMAN
  • D3VVN9_HUMAN
  • D3VVP0_HUMAN
  • D3VVP1_HUMAN
  • D3VVP2_HUMAN
  • D3VVP3_HUMAN
  • D3VVP4_HUMAN
  • D3VVP5_HUMAN
  • D3VVP6_HUMAN
  • D3VVP7_HUMAN
  • D3VVP8_HUMAN
  • D3VVP9_HUMAN
  • D3VVQ0_HUMAN
  • D3VVQ1_HUMAN
  • D3VVQ2_HUMAN
  • D3VVQ3_HUMAN
  • D3VVQ4_HUMAN
  • D3VVQ5_HUMAN
  • D3VVQ6_HUMAN
  • D3VVQ7_HUMAN
  • D3VVQ8_HUMAN
  • D3VVQ9_HUMAN
  • D3VVR0_HUMAN
  • D3VVR1_HUMAN
  • D3VVR2_HUMAN
  • D3VVR3_HUMAN
  • D3VVR4_HUMAN
  • D3VVR5_HUMAN
  • D3VVR6_HUMAN
  • D3VVR7_HUMAN
  • D3VVR8_HUMAN
  • D3VVR9_HUMAN
  • D3VVS0_HUMAN
  • D3VVS1_HUMAN
  • D3VVS2_HUMAN
  • D3VVS3_HUMAN
  • D3VVS4_HUMAN
  • D3VVS5_HUMAN
  • D3VVS6_HUMAN
  • D3VVS7_HUMAN
  • D3VVS8_HUMAN
  • D3VVS9_HUMAN
  • D3VVT0_HUMAN
  • D3VVT1_HUMAN
  • D3VVT2_HUMAN
  • D3VVT4_HUMAN
  • D3VVT5_HUMAN
  • D3VVT6_HUMAN
  • D6R9I5_HUMAN
  • E9PJN5_HUMAN
  • F5H211_HUMAN
  • G3V2G1_HUMAN
  • G3V2G2_HUMAN
  • G3V328_HUMAN
  • G3V390_HUMAN
  • G3V3A6_HUMAN
  • G3V3R7_HUMAN
  • G3V3S5_HUMAN
  • G3V3T0_HUMAN
  • G3V3T6_HUMAN
  • G3V4B1_HUMAN
  • G3V4F4_HUMAN
  • G3V4F5_HUMAN
  • G3V4U9_HUMAN
  • G3V526_HUMAN
  • G3V5H3_HUMAN
  • Q4VBR4_HUMAN
  • S4R399_HUMAN

Pseudogenes.org Pseudogenes for ATXN3 Gene

genes like me logo Genes that share paralogs with ATXN3: view

Variants for ATXN3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN3 Gene

ATX3_HUMAN-P54252
The poly-Gln region of ATXN3 is highly polymorphic (14 to 41 repeats) in the normal population and is expanded to about 55-82 repeats in spinocerebellar ataxia 3 (SCA3) patients (PubMed:7874163, PubMed:9274833).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATXN3 Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
1032281 Pathogenic: Azorean disease 92,071,052(-) G/GCTGCTGCTGCTGC
NM_004993.6(ATXN3):c.873_874insGCAGCAGCAGCAG (p.Gln292fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
1032282 Pathogenic: Azorean disease 92,071,042(-) T/TGC
NM_004993.6(ATXN3):c.883_884insGC (p.Lys295fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
1032283 Pathogenic: Azorean disease 92,071,010(-) C/CGCTGTTGCTGCTG
NM_004993.6(ATXN3):c.915_916insCAGCAGCAACAGC (p.Gly306fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT
931861 Benign: Azorean disease 92,071,010(-) C/CCTGCTGCTGCTG
NM_004993.6(ATXN3):c.892CAG[12] (p.Gln302_Gln305dup)
NON_CODING_TRANSCRIPT_VARIANT,INFRAME_INSERTION
998254 Pathogenic: Azorean disease 92,071,052(-) GT/G
NM_004993.6(ATXN3):c.873del (p.Lys291fs)
FRAMESHIFT_VARIANT,NON_CODING_TRANSCRIPT

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ATXN3 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 ATXN3 Gene

Variant ID Type Subtype PubMed ID
dgv1956n100 CNV gain 25217958
nsv1045760 CNV gain 25217958
nsv1116040 CNV deletion 24896259
nsv1122926 CNV deletion 24896259
nsv1122927 CNV deletion 24896259
nsv456395 CNV loss 19166990
nsv527458 CNV loss 19592680
nsv565519 CNV loss 21841781
nsv85878 CNV insertion 16902084

Variation tolerance for ATXN3 Gene

Residual Variation Intolerance Score: 41.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.92; 94.89% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATXN3 Gene

Human Gene Mutation Database (HGMD)
ATXN3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATXN3
Leiden Open Variation Database (LOVD)
ATXN3

SNP Genotyping and Copy Number Assays for research

Disorders for ATXN3 Gene

MalaCards: The human disease database

(39) MalaCards diseases for ATXN3 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
machado-joseph disease
  • mjd
machado-joseph disease type 1
  • sca3, joseph type
machado-joseph disease type 3
  • sca3, machado type
machado-joseph disease type 2
  • sca3, thomas type
spinocerebellar ataxia 2
  • sca2
- elite association - COSMIC cancer census association via MalaCards
Search ATXN3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ATX3_HUMAN
  • Spinocerebellar ataxia 3 (SCA3) [MIM:109150]: 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. SCA3 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. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease. {ECO:0000269 PubMed:7874163}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ATXN3

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 ATXN3: view

No data available for Genatlas for ATXN3 Gene

Publications for ATXN3 Gene

  1. [Detection of the CAG trinucleotide repeats of MJD1 gene by recombinant DNA technology]. (PMID: 20017304) Zhang S … Tang BS (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2009) 3 22 40
  2. 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
  3. 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 40
  4. Josephin domain-containing proteins from a variety of species are active de-ubiquitination enzymes. (PMID: 17696782) Tzvetkov N … Breuer P (Biological chemistry 2007) 3 4 22
  5. Deubiquitinating function of ataxin-3: insights from the solution structure of the Josephin domain. (PMID: 16118278) Mao Y … De Camilli P (Proceedings of the National Academy of Sciences of the United States of America 2005) 3 4 22

Products for ATXN3 Gene

Sources for ATXN3 Gene