Gene Gene information from NCBI Gene database.
Entrez ID 4287
Gene name Ataxin 3
Gene symbol ATXN3
Synonyms (NCBI Gene)
AT3ATX3JOSMJDMJD1SCA3
Chromosome 14
Chromosome location 14q32.12
Summary 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
miRNA miRNA information provided by mirtarbase database.
868
miRTarBase ID miRNA Experiments Reference
MIRT720560 hsa-miR-377-5p HITS-CLIP 19536157
MIRT720559 hsa-miR-6086 HITS-CLIP 19536157
MIRT720558 hsa-miR-6499-3p HITS-CLIP 19536157
MIRT512227 hsa-miR-3689d HITS-CLIP 19536157
MIRT512226 hsa-miR-6851-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
83
GO ID Ontology Definition Evidence Reference
GO:0000226 Process Microtubule cytoskeleton organization IMP 20637808
GO:0002181 Process Cytoplasmic translation IDA 8706699, 34314702
GO:0004843 Function Cysteine-type deubiquitinase activity IBA
GO:0004843 Function Cysteine-type deubiquitinase activity IDA 33157014
GO:0004843 Function Cysteine-type deubiquitinase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607047 7106 ENSG00000066427
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P54252
Protein name Ataxin-3 (EC 3.4.19.12) (Machado-Joseph disease protein 1) (Spinocerebellar ataxia type 3 protein)
Protein function Deubiquitinating enzyme involved in protein homeostasis maintenance, transcription, cytoskeleton regulation, myogenesis and degradation of misfolded chaperone substrates (PubMed:12297501, PubMed:16118278, PubMed:17696782, PubMed:23625928, PubMed
PDB 1YZB , 2AGA , 2DOS , 2JRI , 2KLZ , 4WTH , 4YS9
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02099 Josephin 9 166 Josephin Family
PF02809 UIM 224 239 Ubiquitin interaction motif Motif
PF02809 UIM 244 260 Ubiquitin interaction motif Motif
PF16619 SUIM_assoc 263 329 Disordered
PF02809 UIM 335 350 Ubiquitin interaction motif Motif
Tissue specificity TISSUE SPECIFICITY: Ubiquitous.
Sequence
Sequence length 361
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein processing in endoplasmic reticulum
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
  Josephin domain DUBs
FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Azorean disease Pathogenic rs193922928 RCV000003729
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parkinson disease, late-onset Pathogenic rs193922928 RCV000003730
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATXN3-related disorder Uncertain significance; Benign; Likely benign; Conflicting classifications of pathogenicity ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT LATE ONSET PARKINSON DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Activated Protein C Resistance Activated Protein C Resistance BEFREE 15609280, 9158617, 9555645
★☆☆☆☆
Found in Text Mining only
Adenylate Kinase Deficiency Hemolytic Anemia Due To Hemolytic anemia Pubtator 10855623 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 32745980 Inhibit
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 21889984, 30190267
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis GWASCAT_DG 29566793
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 33541344, 36737438 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial Amyotrophic lateral sclerosis BEFREE 19661182
★☆☆☆☆
Found in Text Mining only
Antithrombin III Deficiency Antithrombin Deficiency BEFREE 15338392
★☆☆☆☆
Found in Text Mining only
Apraxia oculomotor Cogan type Apraxia Pubtator 30920184 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia Ataxia Pubtator 11804332, 18160752, 30920184, 33106888, 34087977, 37592453 Associate
★☆☆☆☆
Found in Text Mining only