Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4287
Gene name Gene Name - the full gene name approved by the HGNC.
Ataxin 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATXN3
Synonyms (NCBI Gene) Gene synonyms aliases
AT3, ATX3, JOS, MJD, MJD1, SCA3
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q32.12
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607047 7106 ENSG00000066427
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis N/A N/A GWAS
Parkinson disease parkinson disease, late-onset N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 33477953
Adenylate Kinase Deficiency Hemolytic Anemia Due To Associate 10855623
Alzheimer Disease Inhibit 32745980
Amyotrophic Lateral Sclerosis Associate 33541344, 36737438
Aphasia Broca Associate 22023810
Apraxia oculomotor Cogan type Associate 30920184
Ataxia Associate 11804332, 18160752, 30920184, 33106888, 34087977, 37592453
Ataxia Stimulate 20069235
Autonomic Nervous System Diseases Associate 38233440
Brain Diseases Associate 36737438, 39456985