Gene table of ATXN7 : ataxin 7

Gene-disease associations table

Disease ID	Disease name	Source of annotation with ATXN7	OMIM link	Number of associated genes	genes
PS164400	SPINOCEREBELLAR ATAXIA	ClinVar, OMIM	link to OMIM	31	ATXN10, ATXN2, SCYL1, PDYN, ELOVL5, PRKCG, 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 ATXN7

Associated genes in ENSEMBL

ENSG00000163635

Associated proteins - SwissProt Accession ID

O15265

Associated PDB IDs

2kkr

Cytogenetic Band

3p14.1

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

It is regulated by the following TF:

CTCF

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
HATs acetylate histones	R-HSA-3214847	6.23
Chromatin organization	R-HSA-4839726	5.19
Chromatin modifying enzymes	R-HSA-3247509	5.19

Associated GO terms for Molecular function

GO term	GO ID	GO IC
chromatin binding	GO:0003682	3.64
macromolecular complex binding	GO:0044877	2.61
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46