ADHDgene Database

Hot Results

Quick Search

Keyword:
Type:

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, -1
External Links	HGNC: 10555 Entrez Gene: 6311 Ensembl: ENSG00000204842 UCSC: uc001tsj.3
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; 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)	intron_variant; nc_transcript_variant; NMD_transcript_variant	1(0/0/1)

LD-proxies (count: 33)

rs_ID	Location	Functional Annotation
rs657197	chr12:111965658(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant
rs607316	chr12:111969448(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant
rs625093	chr12:111988432(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant
rs638791	chr12:111989236(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant
rs848132	chr12:111989979(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant
rs616559	chr12:112003350(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant
rs616513	chr12:112003383(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant
rs7398705	chr12:112016016(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant
rs12369009	chr12:112019799(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant
rs10774631	chr12:112023001(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant
rs2239197	chr12:111892685(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs4766577	chr12:111894287(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant
rs10849952	chr12:111911285(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant
rs12230853	chr12:111912584(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant
rs2285518	chr12:111923417(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant
rs3858705	chr12:111967002(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant
rs3815021	chr12:111962692(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant
rs610769	chr12:111999570(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant
rs11065941	chr12:111972924(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant
rs7301040	chr12:112025475(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant
rs6490162	chr12:111941120(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant
rs628825	chr12:111951850(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant
rs630512	chr12:111952167(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant
rs688812	chr12:111962581(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant
rs2339816	chr12:111912188(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant
rs7965040	chr12:111920295(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant
rs1029388	chr12:111926901(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant
rs7134740	chr12:111927739(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant
rs10849949	chr12:111893537(Fwd)	3_prime_UTR_variant; downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs2073950	chr12:111894072(Fwd)	downstream_gene_variant; intron_variant; nc_transcript_variant; NMD_transcript_variant; upstream_gene_variant
rs2301622	chr12:111895203(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs2301621	chr12:111895272(Fwd)	intron_variant; nc_transcript_variant; NMD_transcript_variant; non_coding_exon_variant; upstream_gene_variant
rs739496	chr12:111887659(Fwd)	3_prime_UTR_variant; downstream_gene_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:0048471	perinuclear region of cytoplasm	cellular component	IDA[17097639]	99
GO:0010494	cytoplasmic stress granule	cellular component	IDA[17392519]	6
GO:0016070	RNA metabolic process	biological process	NAS[15663938]	54
GO:0050905	neuromuscular process	biological process	IEA	3
GO:0033962	cytoplasmic mRNA processing body assembly	biological process	IMP[17392519]	4
GO:0002091	negative regulation of receptor internalization	biological process	IMP[18602463]	2
GO:0005794	Golgi apparatus	cellular component	IDA[12812977]	174
GO:0003723	RNA binding	molecular function	NAS[10814712]	115
GO:0048872	homeostasis of number of cells	biological process	IEA	4
GO:0005730	nucleolus	cellular component	IDA	271
GO:0005802	trans-Golgi network	cellular component	IDA[10814712]	29
GO:0005844	polysome	cellular component	IDA[16835262]	1
GO:0005154	epidermal growth factor receptor binding	molecular function	IPI[18602463]	4
GO:0008022	protein C-terminus binding	molecular function	IPI[15663938]	42
GO:0034063	stress granule assembly	biological process	IMP[17392519]	3
GO:0021702	cerebellar Purkinje cell differentiation	biological process	IEA	4
GO:0006417	regulation of translation	biological process	NAS[16835262]	10
GO:0005515	protein binding	molecular function	IPI[16713569]	1015
GO:0048812	neuron projection morphogenesis	biological process	IEA	8
GO:0005634	nucleus	cellular component	IDA	877
GO:0005737	cytoplasm	cellular component	IDA	781
GO:0008219	cell death	biological process	IEA	33
GO:0040015	negative regulation of multicellular organism growth	biological process	IEA	6
GO:0030529	ribonucleoprotein complex	cellular component	IDA[16835262]	24
GO:0050658	RNA transport	biological process	NAS[10814712]	4

Gene related KEGG pathways (count: 0)

Genes shared at least 5 GO terms with ATXN2 (count: 50)

Gene Symbol	Pathway Count	Pathway List
OPTN	7	perinuclear region of cytoplasm; Golgi apparatus; trans-Golgi network; protein C-terminus binding; protein binding; cytoplasm; cell death;
HNRNPA2B1	7	RNA binding; nucleolus; protein binding; nucleus; cytoplasm; ribonucleoprotein complex; RNA transport;
RBFOX1	7	RNA binding; trans-Golgi network; protein C-terminus binding; protein binding; nucleus; cytoplasm; RNA transport;
PARK2	6	perinuclear region of cytoplasm; Golgi apparatus; protein binding; nucleus; cytoplasm; cell death;
GSK3B	6	perinuclear region of cytoplasm; nucleolus; protein binding; nucleus; cytoplasm; ribonucleoprotein complex;
AXIN1	6	perinuclear region of cytoplasm; protein C-terminus binding; protein binding; nucleus; cytoplasm; cell death;
KLHL20	6	perinuclear region of cytoplasm; Golgi apparatus; nucleolus; protein binding; nucleus; cytoplasm;
RBM4	6	cytoplasmic stress granule; RNA binding; nucleolus; protein binding; nucleus; cytoplasm;
PDCD4	6	RNA metabolic process; RNA binding; nucleolus; protein binding; nucleus; cytoplasm;
RPS9	6	RNA metabolic process; nucleolus; regulation of translation; protein binding; cytoplasm; ribonucleoprotein complex;
XPO1	6	RNA metabolic process; RNA binding; nucleolus; protein binding; cytoplasm; ribonucleoprotein complex;
FUS	6	RNA binding; nucleolus; protein binding; nucleus; cytoplasm; cell death;
NCL	6	RNA binding; nucleolus; protein C-terminus binding; protein binding; nucleus; ribonucleoprotein complex;
IGHMBP2	6	RNA binding; protein binding; nucleus; cytoplasm; cell death; ribonucleoprotein complex;
ATXN1	6	nucleolus; protein C-terminus binding; protein binding; nucleus; cytoplasm; cell death;
PSMC3	5	perinuclear region of cytoplasm; RNA metabolic process; protein binding; nucleus; cytoplasm;
MALT1	5	perinuclear region of cytoplasm; nucleolus; protein binding; nucleus; cytoplasm;
SNCA	5	perinuclear region of cytoplasm; Golgi apparatus; protein binding; nucleus; cytoplasm;
PAFAH1B1	5	perinuclear region of cytoplasm; nucleolus; protein binding; nucleus; cytoplasm;
PICK1	5	perinuclear region of cytoplasm; Golgi apparatus; protein C-terminus binding; protein binding; cytoplasm;
TSC2	5	perinuclear region of cytoplasm; Golgi apparatus; protein binding; nucleus; cytoplasm;
NF2	5	perinuclear region of cytoplasm; nucleolus; protein binding; nucleus; cytoplasm;
PDE2A	5	perinuclear region of cytoplasm; Golgi apparatus; protein binding; nucleus; cytoplasm;
DDX6	5	cytoplasmic stress granule; RNA metabolic process; cytoplasmic mRNA processing body assembly; RNA binding; protein binding;
CIRBP	5	cytoplasmic stress granule; stress granule assembly; protein binding; nucleus; cytoplasm;
DCPS	5	RNA metabolic process; nucleolus; protein binding; nucleus; cytoplasm;
HSPA8	5	RNA metabolic process; nucleolus; protein binding; nucleus; ribonucleoprotein complex;
PARN	5	RNA metabolic process; nucleolus; protein binding; nucleus; cytoplasm;
NCBP1	5	RNA metabolic process; RNA binding; protein binding; nucleus; ribonucleoprotein complex;
RPS3	5	RNA metabolic process; protein binding; nucleus; cytoplasm; ribonucleoprotein complex;
RNPS1	5	RNA metabolic process; RNA binding; protein binding; nucleus; cytoplasm;
SART1	5	Golgi apparatus; nucleolus; protein binding; nucleus; cytoplasm;
PRKD1	5	Golgi apparatus; trans-Golgi network; protein binding; nucleus; cytoplasm;
MAPK1	5	Golgi apparatus; nucleolus; protein binding; nucleus; cytoplasm;
AATF	5	Golgi apparatus; nucleolus; protein binding; nucleus; cytoplasm;
CEP57	5	Golgi apparatus; nucleolus; protein binding; nucleus; cytoplasm;
TRIM5	5	Golgi apparatus; nucleolus; protein binding; nucleus; cytoplasm;
COG3	5	Golgi apparatus; nucleolus; protein binding; nucleus; cytoplasm;
ALKBH8	5	RNA binding; nucleolus; protein binding; nucleus; cytoplasm;
PSPC1	5	RNA binding; nucleolus; protein binding; nucleus; cytoplasm;
HNRNPA1	5	RNA binding; nucleolus; nucleus; cytoplasm; ribonucleoprotein complex;
RBM14	5	RNA binding; nucleolus; protein binding; nucleus; ribonucleoprotein complex;
CELF1	5	RNA binding; protein binding; nucleus; cytoplasm; ribonucleoprotein complex;
HNRNPH1	5	RNA binding; nucleolus; protein binding; nucleus; cytoplasm;
ZFR	5	RNA binding; nucleolus; protein binding; nucleus; cytoplasm;
NOL8	5	RNA binding; nucleolus; protein binding; nucleus; cytoplasm;
MPHOSPH6	5	RNA binding; nucleolus; protein binding; nucleus; cytoplasm;
XRCC5	5	nucleolus; protein C-terminus binding; protein binding; nucleus; cytoplasm;
DHX9	5	nucleolus; protein binding; nucleus; cytoplasm; ribonucleoprotein complex;
BAIAP2	5	nucleolus; protein C-terminus binding; protein binding; nucleus; cytoplasm;

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

View in gBrowse

Region: chr12:111890018..112037480 View in gBrowse