ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	ATXN2
Previous Symbol	SCA2, TNRC13
Symbol Alias	ATX2
Approved Name	ataxin 2
Previous Name	spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)
Name Alias	trinucleotide repeat containing 13
Location	12q23-q24.1
Position	chr12:111890018-112037480, -
External Links	HGNC: 10555 Entrez Gene: 6311 Ensembl: ENSG00000204842 UCSC: uc001tsj.2
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Stergiakouli E., 2012	One of the top 20 independent SNPs with P=0.00000862 locates intronic relative to this gene.	Trend

Gene related SNPs (count: 34)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs616668	Chr12:111974280(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant	1(0/0/1)

LD-proxies (count: 33)

rs_ID	Location	Functional Annotation
rs7301040	Chr12:112025475(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs2073950	Chr12:111894072(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs848132	Chr12:111989979(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs638791	Chr12:111989236(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs688812	Chr12:111962581(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs7134740	Chr12:111927739(Fwd)	NMD_transcript_variant; intron_variant; upstream_gene_variant
rs2301621	Chr12:111895272(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs739496	Chr12:111887659(Fwd)	3_prime_UTR_variant; downstream_gene_variant
rs10849949	Chr12:111893537(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs2301622	Chr12:111895203(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs2339816	Chr12:111912188(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs630512	Chr12:111952167(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs657197	Chr12:111965658(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs607316	Chr12:111969448(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs625093	Chr12:111988432(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs7965040	Chr12:111920295(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs1029388	Chr12:111926901(Fwd)	NMD_transcript_variant; intron_variant; upstream_gene_variant
rs6490162	Chr12:111941120(Fwd)	NMD_transcript_variant; intron_variant
rs628825	Chr12:111951850(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs10774631	Chr12:112023001(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs4766577	Chr12:111894287(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs2239197	Chr12:111892685(Fwd)	3_prime_UTR_variant; NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs616513	Chr12:112003383(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs616559	Chr12:112003350(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs12369009	Chr12:112019799(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs7398705	Chr12:112016016(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs11065941	Chr12:111972924(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs3858705	Chr12:111967002(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs610769	Chr12:111999570(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant
rs12230853	Chr12:111912584(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs10849952	Chr12:111911285(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs3815021	Chr12:111962692(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant; upstream_gene_variant
rs2285518	Chr12:111923417(Fwd)	NMD_transcript_variant; downstream_gene_variant; intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 25)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 25)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0050905	neuromuscular process	Biological Process		2
GO:0048812	neuron projection morphogenesis	Biological Process		7
GO:0048471	perinuclear region of cytoplasm	Cellular Component	IDA[17097639]	87
GO:0050658	RNA transport	Biological Process	NAS[10814712]	4
GO:0048872	homeostasis of number of cells	Biological Process		4
GO:0005515	protein binding	Molecular Function	IPI[16713569]	910
GO:0005154	epidermal growth factor receptor binding	Molecular Function	IPI[18602463]	4
GO:0003723	RNA binding	Molecular Function	NAS[10814712]	104
GO:0002091	negative regulation of receptor internalization	Biological Process	IMP[18602463]	2
GO:0034063	stress granule assembly	Biological Process	IMP[17392519]	1
GO:0040015	negative regulation of multicellular organism growth	Biological Process		6
GO:0030529	ribonucleoprotein complex	Cellular Component	IDA[16835262]	23
GO:0033962	cytoplasmic mRNA processing body assembly	Biological Process	IMP[17392519]	4
GO:0016070	RNA metabolic process	Biological Process	NAS[15663938]	46
GO:0021702	cerebellar Purkinje cell differentiation	Biological Process		3
GO:0008219	cell death	Biological Process		33
GO:0010494	cytoplasmic stress granule	Cellular Component	IDA[17392519]	4
GO:0006417	regulation of translation	Biological Process	NAS[16835262]	10
GO:0008022	protein C-terminus binding	Molecular Function	IPI[15663938]	32
GO:0005802	trans-Golgi network	Cellular Component	IDA[10814712]	28
GO:0005844	polysome	Cellular Component	IDA[16835262]	1
GO:0005737	cytoplasm	Cellular Component		690
GO:0005794	Golgi apparatus	Cellular Component	IDA[12812977]	157
GO:0005634	nucleus	Cellular Component		770
GO:0005730	nucleolus	Cellular Component		243

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with ATXN2 (count: 45)

Gene Symbol	Pathway Count	Pathway List
OPTN	7	perinuclear region of cytoplasm; protein binding; cell death; protein C-terminus binding; trans-Golgi network; cytoplasm; Golgi apparatus;
HNRNPA2B1	7	RNA transport; protein binding; RNA binding; ribonucleoprotein complex; cytoplasm; nucleus; nucleolus;
RBFOX1	7	RNA transport; protein binding; RNA binding; protein C-terminus binding; trans-Golgi network; cytoplasm; nucleus;
GSK3B	6	perinuclear region of cytoplasm; protein binding; ribonucleoprotein complex; cytoplasm; nucleus; nucleolus;
KLHL20	6	perinuclear region of cytoplasm; protein binding; cytoplasm; Golgi apparatus; nucleus; nucleolus;
PARK2	6	perinuclear region of cytoplasm; protein binding; cell death; cytoplasm; Golgi apparatus; nucleus;
ATXN1	6	protein binding; cell death; protein C-terminus binding; cytoplasm; nucleus; nucleolus;
FUS	6	protein binding; RNA binding; cell death; cytoplasm; nucleus; nucleolus;
IGHMBP2	6	protein binding; RNA binding; ribonucleoprotein complex; cell death; cytoplasm; nucleus;
PDCD4	6	protein binding; RNA binding; RNA metabolic process; cytoplasm; nucleus; nucleolus;
RBM4	6	protein binding; RNA binding; cytoplasmic stress granule; cytoplasm; nucleus; nucleolus;
RPS9	6	protein binding; ribonucleoprotein complex; RNA metabolic process; regulation of translation; cytoplasm; nucleolus;
XPO1	6	protein binding; RNA binding; ribonucleoprotein complex; RNA metabolic process; cytoplasm; nucleolus;
MALT1	5	perinuclear region of cytoplasm; protein binding; cytoplasm; nucleus; nucleolus;
NF2	5	perinuclear region of cytoplasm; protein binding; cytoplasm; nucleus; nucleolus;
PAFAH1B1	5	perinuclear region of cytoplasm; protein binding; cytoplasm; nucleus; nucleolus;
PDE2A	5	perinuclear region of cytoplasm; protein binding; cytoplasm; Golgi apparatus; nucleus;
PSMC3	5	perinuclear region of cytoplasm; protein binding; RNA metabolic process; cytoplasm; nucleus;
SNCA	5	perinuclear region of cytoplasm; protein binding; cytoplasm; Golgi apparatus; nucleus;
AATF	5	protein binding; cytoplasm; Golgi apparatus; nucleus; nucleolus;
ALKBH8	5	protein binding; RNA binding; cytoplasm; nucleus; nucleolus;
BAIAP2	5	protein binding; protein C-terminus binding; cytoplasm; nucleus; nucleolus;
CELF1	5	protein binding; RNA binding; ribonucleoprotein complex; cytoplasm; nucleus;
CEP57	5	protein binding; cytoplasm; Golgi apparatus; nucleus; nucleolus;
COG3	5	protein binding; cytoplasm; Golgi apparatus; nucleus; nucleolus;
DCPS	5	protein binding; RNA metabolic process; cytoplasm; nucleus; nucleolus;
DDX6	5	protein binding; RNA binding; cytoplasmic mRNA processing body assembly; RNA metabolic process; cytoplasmic stress granule;
DHX9	5	protein binding; ribonucleoprotein complex; cytoplasm; nucleus; nucleolus;
HNRNPH1	5	protein binding; RNA binding; cytoplasm; nucleus; nucleolus;
HSPA8	5	protein binding; ribonucleoprotein complex; RNA metabolic process; nucleus; nucleolus;
MAPK1	5	protein binding; cytoplasm; Golgi apparatus; nucleus; nucleolus;
MPHOSPH6	5	protein binding; RNA binding; cytoplasm; nucleus; nucleolus;
NCBP1	5	protein binding; RNA binding; ribonucleoprotein complex; RNA metabolic process; nucleus;
NOL8	5	protein binding; RNA binding; cytoplasm; nucleus; nucleolus;
PRKD1	5	protein binding; trans-Golgi network; cytoplasm; Golgi apparatus; nucleus;
PSPC1	5	protein binding; RNA binding; cytoplasm; nucleus; nucleolus;
RBM14	5	protein binding; RNA binding; ribonucleoprotein complex; nucleus; nucleolus;
RPS3	5	protein binding; ribonucleoprotein complex; RNA metabolic process; cytoplasm; nucleus;
SART1	5	protein binding; cytoplasm; Golgi apparatus; nucleus; nucleolus;
TARDBP	5	protein binding; RNA binding; cell death; nucleus; nucleolus;
TFAP2A	5	protein binding; cytoplasm; Golgi apparatus; nucleus; nucleolus;
TRIM5	5	protein binding; cytoplasm; Golgi apparatus; nucleus; nucleolus;
XRCC5	5	protein binding; protein C-terminus binding; cytoplasm; nucleus; nucleolus;
ZFR	5	protein binding; RNA binding; cytoplasm; nucleus; nucleolus;
HNRNPA1	5	RNA binding; ribonucleoprotein complex; cytoplasm; nucleus; nucleolus;

Genes shared at least 2 KEGG pathways with ATXN2 (count: 0)

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Region: chr12:111890018..112037480 View in gBrowse