Gene Name	ATXN2
Gene ID	6311
Gene Full Name	ataxin 2
Gene Alias	ATX2|SCA2|TNRC13
Transcripts	ENSG00000204842
Virus	HIV
Gene Type	protein-coding
HPA Location Info	Cytosol;
Membrane Info	Disease related genes, Human disease related genes, Predicted intracellular proteins
Uniport_ID	Q99700
HGNC ID	HGNC:10555
OMIM ID	601517
Summary	This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 residues. Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

Integration Table: if previous studies reported that target gene was altered by virus integration events, the overlap between VISs in this literature and Cistrome factors was listed in this section

DVID	Chromosome	HM	TFBS	CA	Sum of Overlapped Records	Detail
4000776	chr12	34	23	227	284	View
4001326	chr12	146	15	18	179	View
4001502	chr12	143	12	1	156	View
4001547	chr12	26	69	57	152	View
4001863	chr12	122	4	0	126	View
4002516	chr12	89	2	0	91	View
4003518	chr12	0	33	27	60	View
4005354	chr12	22	4	7	33	View

Data ID	Experiment type	Sample number	Platform
C   GSE221688	Chip-seq;scATAC-Seq;scRNA-Seq	12	Illumina NovaSeq 6000 (Homo sapiens)
GSE99737	RNA-seq	9	Illumina HiSeq 2500 (Homo sapiens)
GSE144332	RNA-seq	75	NextSeq 550 (Homo sapiens)
C   GSE165705	Chip-seq	30	Illumina NovaSeq 6000 (Homo sapiens)
GSE164264	RNA-seq	6	BGISEQ-500 (Homo sapiens)
C   GSE30738	Chip-seq	2	Illumina Genome Analyzer II (Homo sapiens)
GSE262621	RNA-seq	70	Illumina NovaSeq 6000 (Homo sapiens)
GSE128121	RNA-seq	16	Illumina HiSeq 4000 (Homo sapiens)
GSE162914	RNA-seq	211	Illumina HiSeq 2500 (Homo sapiens)
GSE279982	Methylation profiling (Array)	576	Infinium MethylationEPIC
C   GSE144329	ATAC-seq	96	NextSeq 550 (Homo sapiens)
GSE205204	RNA-seq	14	Illumina NovaSeq 6000 (Homo sapiens)
GSE125686	RNA-seq	62	Illumina HiSeq 2000 (Homo sapiens);Illumina HiSeq 2500 (Homo sapiens);Illumina NextSeq 500 (Homo sapiens)
GSE198339	scRNA-seq	8	Illumina NovaSeq 6000 (Homo sapiens)
GSE233747	scRNA-seq	40	Illumina NovaSeq 6000 (Homo sapiens)
C   GSE220859	Chip-seq	11	Illumina NovaSeq 6000 (Homo sapiens)
GSE165708	RNA-seq	100	Illumina HiSeq 4000 (Homo sapiens)
C   GSE211651	Chip-seq;RNA-seq;PRO-seq	39	Illumina NextSeq 500 (Homo sapiens);Illumina NovaSeq 6000 (Homo sapiens)
GSE68028	MeDIP-chip	1	NimbleGen Human DNA Methylation 2.1M Deluxe Promoter Array [100929_HG19_Deluxe_Prom_Meth_HX1]
C   GSE100376	ATAC-seq	24	Illumina NextSeq 500 (Homo sapiens)
GSE167211	RNA-seq	1	Illumina HiSeq 2000 (Homo sapiens)
GSE165132	RNA-seq	56	NextSeq 550 (Homo sapiens)
C   GSE100266	ATAC-seq;Chip-seq;RNA-seq	32	Illumina HiSeq 2500 (Homo sapiens)
C   GSE165703	ATAC-seq	82	Illumina HiSeq 4000 (Homo sapiens)
GSE246082	RNA-seq	6	Illumina HiSeq 4000 (Homo sapiens)

• Genome binding/occupancy profiling

When the gene can detect a peak in the dataset, a peak plot will be displayed.

> Dataset: GSE221688 - ATXN2 peak across samples

Peak Plot

> Dataset: GSE165705 - ATXN2 peak across samples

Peak Plot

> Dataset: GSE30738 - ATXN2 peak across samples

Peak Plot

> Dataset: GSE144329 - ATXN2 peak across samples

Peak Plot

> Dataset: GSE220859 - ATXN2 peak across samples

Peak Plot

> Dataset: GSE211651 - ATXN2 peak across samples

Peak Plot

> Dataset: GSE100376 - ATXN2 peak across samples

Peak Plot

> Dataset: GSE100266 - ATXN2 peak across samples

Peak Plot

> Dataset: GSE165703 - ATXN2 peak across samples

Peak Plot