Gene table of ATXN3 : ataxin 3

Gene-disease associations table

Disease IDDisease nameSource of annotation with ATXN3OMIM linkNumber of associated genesgenes
PS168600PARKINSON DISEASEClinVar link to OMIM 30ATP13A2, FGF20, VPS13C, DNAJC13, ATXN2, PINK1, CHCHD2, ADH1C, UCHL1, GIGYF2, SYNJ1, PODXL, HTRA2, LRRK2, TBP, PARK2, ATXN8OS, SNCAIP, GBA, SNCA, NR4A2, PLA2G6, GLUD2, PARK7, ATXN3, MAPT, DNAJC6, EIF4G1, FBXO7, VPS35
PS164400SPINOCEREBELLAR ATAXIAClinVar, OMIM link to OMIM 31PRKCG, ATXN2, SCYL1, PDYN, ELOVL5, ATXN10, TRPC3, ATXN8OS, NOP56, ATXN8, TBP, PPP2R2B, ELOVL4, PLEKHG4, ATXN7, AFG3L2, BEAN1, CACNA1A, ATXN1, TTBK2, KCND3, CACNA1G, TMEM240, ATXN3, KCNC3, SPTBN2, TGM6, CCDC88C, FGF14, ITPR1, EEF2

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Annotation of the gene ATXN3

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Protein processing in endoplasmic reticulumhsa041415.35
Associated REACTOME pathways
Associated GO terms for Molecular function
GO termGO IDGO IC
ubiquitin-like protein ligase bindingGO:00443894.15
ubiquitinyl hydrolase activityGO:01010055.07
RNA polymerase II regulatory region DNA bindingGO:00010123.36
enzyme bindingGO:00198992.27
Lys63-specific deubiquitinase activityGO:00615788.64
exopeptidase activityGO:00082385.07
bindingGO:00054880.18
nucleic acid bindingGO:00036761.44
DNA bindingGO:00036771.92
peptidase activityGO:00082333.23
cysteine-type peptidase activityGO:00082344.51
ubiquitin-like protein-specific protease activityGO:00197834.97
histone deacetylase activityGO:00044076.0
Lys48-specific deubiquitinase activityGO:19903808.35
heterocyclic compound bindingGO:19013631.06
identical protein bindingGO:00428022.63
hydrolase activityGO:00167871.9
deacetylase activityGO:00192135.7
ATPase bindingGO:00511175.41
omega peptidase activityGO:00082426.91
regulatory region nucleic acid bindingGO:00010673.03
catalytic activityGO:00038241.05
thiol-dependent ubiquitin-specific protease activityGO:00048435.43
transcription regulatory region DNA bindingGO:00442123.03
ubiquitin protein ligase bindingGO:00316254.17
organic cyclic compound bindingGO:00971591.05
hydrolase activity, acting on carbon-nitrogen (but not peptide) bondsGO:00168104.76
hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amidesGO:00168115.28
thiol-dependent ubiquitinyl hydrolase activityGO:00364595.07
peptidase activity, acting on L-amino acid peptidesGO:00700113.26
protein bindingGO:00055150.46
regulatory region DNA bindingGO:00009753.03
protein deacetylase activityGO:00335585.95