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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
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:0004843 Function Thiol-dependent ubiquitin-specific protease activity IBA 21873635
GO:0004843 Function Thiol-dependent ubiquitin-specific protease activity ISS
GO:0005515 Function Protein binding IPI 16525503, 16713569, 17000876, 20414249, 21386698, 21625540, 22970133, 30455355, 32814053
GO:0005634 Component Nucleus IBA 21873635
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
29566793
Cerebellar ataxia Progressive cerebellar ataxia rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
External ophthalmoplegia External Ophthalmoplegia rs1569484022
Nystagmus Nystagmus, End-Position rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Unknown
Disease term Disease name Evidence References Source
Distal amyotrophy Distal amyotrophy ClinVar
Mental depression Mental Depression, Depressive disorder 21717286, 21437988, 8215926, 25139423, 19811945 ClinVar
Peripheral axonal neuropathy Peripheral axonal neuropathy ClinVar
Progressive external ophthalmoplegia Chronic progressive external ophthalmoplegia ClinVar
Associations from Text Mining
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