Gene table of ATXN2 : ataxin 2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ATXN2	OMIM link	Number of associated genes	genes
PS168600	PARKINSON DISEASE	ClinVar, OMIM	link to OMIM	30	ATP13A2, 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
PS105400	AMYOTROPHIC LATERAL SCLEROSIS	ClinVar, OMIM	link to OMIM	27	CHCHD10, FIG4, ERBB4, SQSTM1, ATXN2, UBQLN2, DCTN1, FUS, NEFH, PFN1, VAPB, MATR3, ALS2, TBK1, SPG11, TARDBP, TUBA4A, SIGMAR1, SOD1, CHMP2B, PRPH, ANG, VCP, OPTN, C9orf72, HNRNPA1, SETX
PS164400	SPINOCEREBELLAR ATAXIA	ClinVar, OMIM	link to OMIM	31	PRKCG, 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

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

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
protein C-terminus binding	GO:0008022	4.5
nucleic acid binding	GO:0003676	1.44
epidermal growth factor receptor binding	GO:0005154	6.34
organic cyclic compound binding	GO:0097159	1.05
poly(A) RNA binding	GO:0044822	2.69
growth factor receptor binding	GO:0070851	4.87
RNA binding	GO:0003723	2.36
protein binding	GO:0005515	0.46
receptor binding	GO:0005102	2.43
heterocyclic compound binding	GO:1901363	1.06
binding	GO:0005488	0.18