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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ATXN2 Gene

protein-coding GIFtS: 56
GCID: GC12M111890

ataxin 2

(Previous names: spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2,...)
(Previous symbols: SCA2, TNRC13)

Explore 44 diseases affiliated with
ATXN2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Ataxin 2¹ ²		Trinucleotide Repeat-Containing Gene 13 Protein² ³
ATX2¹ ² ³ ⁵		Spinocerebellar Ataxia 2 (Olivopontocerebellar Ataxia 2, Autosomal Dominant, Ataxin 2)¹
SCA2¹ ² ³ ⁵		ASL13²
TNRC13¹ ² ³		Ataxin-2¹
Spinocerebellar Ataxia Type 2 Protein² ³		Trinucleotide Repeat Containing 13²

External Ids:	HGNC: 10555¹	Entrez Gene: 6311²	Ensembl: ENSG00000204842⁷	OMIM: 601517⁵	UniProtKB: Q99700³

Export aliases for ATXN2 gene to outside databases

Previous GC identifers: GC12M110352 GC12M108904

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ATXN2:

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized

by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into

three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2

belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in

combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs,

peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene.

This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG

repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease.

Alternatively spliced transcript variants encoding different isoforms have been identified but their full length

sequence has not been determined. (provided by RefSeq, Jan 2010)

UniProtKB/Swiss-Prot: ATX2_HUMAN, Q99700

Function: Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma

membrane

Gene Wiki entry for ATXN2

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000012.11 NC_018923.1 NT_009775.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ATXN2 gene promoter:
TBP TFIID
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ATXN2 promoter sequence

Search SABiosciences Chromatin IP Primers for ATXN2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12q24.1 Ensembl cytogenetic band: 12q24.12 HGNC cytogenetic band: 12q23-q24.1

ATXN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATXN2 gene location

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M111890: view genomic region (about GC identifiers)

Start:	111,890,018 bp from pter	End:	112,037,480 bp from pter
Size:	147,463 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ATX2_HUMAN, Q99700 (See protein sequence)

Recommended Name: Ataxin-2

Size: 1313 amino acids; 140283 Da

Subunit: Monomer (By similarity). Can also form homodimers (By similarity). Interacts with TARDBP; the interaction is

RNA-dependent. Interacts with RBFOX1. Interacts with polyribosomes. Interacts with SH3GL2 and SH3GL3. Interacts with

SH3KBP1 and CBL (By similarity). Interacts with EGFR

Subcellular location: Cytoplasm (By similarity)

1 PDB 3D structure from and Proteopedia for ATXN2:

3KTR (3D)

Secondary accessions: A6NLD4 Q6ZQZ7 Q99493

Alternative splicing: 4 isoforms: Q99700-1 Q99700-2 Q99700-3 Q99700-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATXN2: NX_Q99700

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q99700

ATXN2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_002964.3

ENSEMBL proteins:

ENSP00000373806 ENSP00000373805 ENSP00000366843 ENSP00000446512 ENSP00000448848

ENSP00000439338 ENSP00000445583 ENSP00000447741 ENSP00000449162 ENSP00000447225

ENSP00000447693 ENSP00000448640 ENSP00000449850 ENSP00000450141 ENSP00000449566

ENSP00000446576

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	Uscn Proteins for ATXN2

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005730	NOT nucleolus	IDA	--
GO:0005737	cytoplasm	IDA	--
GO:0005794	Golgi apparatus	IDA	12812977
GO:0005802	trans-Golgi network	IDA	10814712

ATXN2 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for ATXN2

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ATXN2 for domains About GeneDecksing

4 InterPro domains/families:

IPR009604 LsmAD_domain

IPR025852 SM_dom_ATX

IPR009818 Ataxin-2_C

IPR010920 LSM_dom

Graphical View of Domain Structure for InterPro Entry Q99700

ProtoNet protein and cluster: Q99700

2 Blocks protein families:

IPB009604 Ataxin-2

IPB009818 Ataxin-2

UniProtKB/Swiss-Prot: ATX2_HUMAN, Q99700

Similarity: Belongs to the ataxin-2 family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: ATX2_HUMAN, Q99700

Function: Involved in EGFR trafficking, acting as negative regulator of endocytic EGFR internalization at the plasma

membrane

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATXN2
		8/46 QIAGEN miScript miRNA Assays for microRNAs that regulate ATXN2 (see all 46):
		hsa-miR-548j hsa-miR-4328 hsa-miR-15a hsa-miR-1245 hsa-miR-503 hsa-miR-218 hsa-miR-424 hsa-miR-548a-5p

		SwitchGear 3'UTR luciferase reporter plasmid: ATXN2 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN2

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003723	RNA binding	NAS	10814712
GO:0005154	epidermal growth factor receptor binding	IPI	18602463
GO:0005515	protein binding	IPI	16713569
GO:0008022	protein C-terminus binding	IPI	15663938

ATXN2 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for ATXN2: Atxn2^tm1.1Aub Atxn2^tm1Plt
     9 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Atxn2):

adipose tissue	behavior/neurological	endocrine/exocrine gland	growth/size	homeostasis/metabolism
liver/biliary system	mortality/aging	nervous system	reproductive system

ATXN2 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Parkinsons Disease Pathway

Parkinsons Disease Pathway

1.00

1 BioSystems Pathway for ATXN2

Parkinsons Disease Pathway

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ATXN2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/46 Interacting proteins for ATXN2 (Q99700^{1, 2, 3} ENSP00000366843⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 46)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ACTN2	P35609²^,³, ENSP00000355537⁴	MINT-2856709 MINT-2856690 I2D: score=3 STRING: ENSP00000355537
BAG6	P46379²^,³, ENSP00000365131⁴	MINT-2864613 I2D: score=3 STRING: ENSP00000365131
GFI1B	Q5VTD9²^,³, ENSP00000344782⁴	MINT-2862941 I2D: score=3 STRING: ENSP00000344782
PABPC1	P11940¹^,³, ENSP00000313007⁴	EBI-697691,EBI-81531 I2D: score=3 STRING: ENSP00000313007
TDRD7	Q8NHU6²^,³, ENSP00000347444⁴	MINT-2871018 I2D: score=3 STRING: ENSP00000347444

About this table

Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002091	negative regulation of receptor internalization	IMP	18602463
GO:0006417	regulation of translation	NAS	16835262
GO:0008219	cell death	IEA	--
GO:0016070	RNA metabolic process	NAS	15663938
GO:0021702	cerebellar Purkinje cell differentiation	IEA	--

ATXN2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ATXN2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ATXN2
2 Novoseek chemical compound relationships for ATXN2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glutamine	75.1	45	16835262 (2), 11305872 (2), 12524342 (2), 10478584 (1) (see all 25)
polyacrylamide	28.3	1	12490063 (1)

Search CenterWatch for drugs/clinical trials and news about ATXN2 / ATX2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ATXN2 gene:

NM_002973.3

Unigene Cluster for ATXN2:

Ataxin 2

Hs.76253 [show with all ESTs]

Unigene Representative Sequence: NM_002973

18/25 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 25):

ENST00000389154 ENST00000389153 ENST00000377617(uc001tsh.3 uc001tsi.3 uc001tsj.3 uc001tsk.3)

ENST00000483311 ENST00000484991 ENST00000482777(uc001tsl.1) ENST00000535949

ENST00000542287 ENST00000475132 ENST00000550844 ENST00000468920 ENST00000551551

ENST00000550889 ENST00000495342 ENST00000551755 ENST00000552323 ENST00000492467

ENST00000546483

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATXN2
		8/46 QIAGEN miScript miRNA Assays for microRNAs that regulate ATXN2 (see all 46):
		hsa-miR-548j hsa-miR-4328 hsa-miR-15a hsa-miR-1245 hsa-miR-503 hsa-miR-218 hsa-miR-424 hsa-miR-548a-5p

		SwitchGear 3'UTR luciferase reporter plasmid: ATXN2 3' UTR sequence

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Additional cDNA sequence:

AK126309.1 AK128613.1 AK307803.1 BC111757.1 BC114546.1 U70323.1 Y08262.1

22 DOTS entries:

DT.217220 DT.95368853 DT.100018610 DT.92407277 DT.100823502 DT.97764588 DT.99933699 DT.100823501

DT.99940468 DT.121138937 DT.121139012 DT.91768009 DT.92055268 DT.86835853 DT.91768008 DT.92038863

DT.92346440 DT.100737619 DT.40116252 DT.40261339 DT.91645976 DT.92326445

1 AceView cDNA sequence:

AA872973

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ATXN2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AACACATCAG

About this image
See ATXN2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATXN2

SOURCE GeneReport for Unigene cluster: Hs.76253

UniProtKB/Swiss-Prot: ATX2_HUMAN, Q99700

Tissue specificity: Expressed in the brain, heart, liver, skeletal muscle, pancreas and placenta. Isoform 1 is

predominant in the brain and spinal cord. Isoform 4 is more abundant in the cerebellum. In the brain, broadly

expressed in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic

nucleus and thalamus

SABiosciences Expression via Pathway-Focused PCR Array including ATXN2:

Parkinson's Disease in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN2

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATXN2 gene from 9/25 species (see all 25) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Atxn2^{1 , 5}	ataxin 2^{1, 5}	89.02(n)¹ 90.85(a)¹		5 (61.93 cM)⁵ 20239¹ NM_009125.2¹ NP_033151.2¹ 121711337⁵
chicken (Gallus gallus)	Aves	ATXN2¹	ataxin 2	84.54(n) 89.41(a)		416877 XM_415169.2 XP_415169.2
lizard (Anolis carolinensis)	Reptilia	ATXN2⁶	--	82(a)	1 ↔ 1	GL343423.1(755331-793294)
African clawed frog (Xenopus laevis)	Amphibia	Xl.7312²	Xenopus laevis transcribed sequence with moderate similarity more	76.64(n)		BX846533.1
zebrafish (Danio rerio)	Actinopterygii	atxn2¹	ataxin 2	64.98(n) 66.17(a)		569210 NM_001128349.1 NP_001121821.1
fruit fly (Drosophila melanogaster)	Insecta	Atx2¹	Ataxin-2	40.55(n) 30.19(a)		41883 NM_169657.2 NP_732033.1
worm (Caenorhabditis elegans)	Secernentea	atx-2¹	Protein ATX-2	39.14(n) 26.24(a)		176465 NM_001129218.1 NP_001122690.1
thale cress (Arabidopsis thaliana)	eudicotyledons	CID3⁶ CID4⁶	CTC-interacting domain 4 protein	18(a) 17(a)	many ↔ many many ↔ many	1(20221060-20225948) 3(4636254-4640981)
rice (Oryza sativa)	Liliopsida	--	ataxin-2 related protein, putative, expressed	18(a)	1 → many	2(16531342-16539876)

ENSEMBL Gene Tree for ATXN2 (if available)
TreeFam Gene Tree for ATXN2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ATXN2 gene

ATXN2L²

1 SIMAP similar gene for ATXN2 using alignment to 15 protein entries: ATX2_HUMAN (see all proteins):

ATXN2L

ATXN2 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

UniProtKB/Swiss-Prot: ATX2_HUMAN, Q99700

Polymorphism: The poly-Gln region of ATXN2 is polymorphic: 17 to 29 repeats are found in the normal population. Higher

numbers of repeats result in different disease phenotypes depending on the length of the expansion

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs181321990^1,2		--	111889530(+)	`TTGCAA/GTCTGG`	2	--	ds500¹		0	--	--	--	--
rs7311116^1,2	C,F,A,H,	--	111889541(+)	`GAATAC/TTAACA`	2	--	ds500¹		21		NS EA NA WA	1556
rs186769121^1,2		--	111889609(+)	`AGCCTC/TCATGC`	2	--	ds500¹		0	--	--	--	--
rs190066094^1,2		--	111889673(+)	`GTAAAC/GTAGAA`	2	--	ds500¹		0	--	--	--	--
rs182242509^1,2		--	111889707(+)	`AGCTAA/TTGACA`	2	--	ds500¹		0	--	--	--	--
rs139241784^1,2		--	111889913(+)	`AATCAC/TTTCAC`	2	--	ds500¹		0	--	--	--	--
rs117066377^1,2	C,F,	--	111890146(+)	`CAAACT/CTGATT`	1	--	ut3¹		1		EA	120
rs191226454^1,2	C,	--	111890287(+)	`TGTTAC/TTTCTT`	1	--	ut3¹		0	--	--	--	--
rs141258927^1,2		--	111890377(+)	`ACCTGC/TGGGAC`	1	--	ut3¹		0	--	--	--	--
rs150319790^1,2		--	111890434(+)	`TGCCTC/GTACTC`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ATXN2 (111890018 - 112037480 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for ATXN2
2 CNVs: 66332 66331
1 Indel: 66330
Human Gene Mutation Database (HGMD): ATXN2

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATXN2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ATXN2 for disorders           About GeneDecksing

OMIM gene information: 601517
OMIM disorders: 183090
UniProtKB/Swiss-Prot: ATX2_HUMAN, Q99700

Defects in ATXN2 are the cause of spinocerebellar ataxia type 2 (SCA2) [MIM:183090]; also known as

olivopontocerebellar atrophy II (OPCA II or OPCA2). Spinocerebellar ataxia is a clinically and genetically

heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor

coordination of hands, speech and eye movements, due to cerebellum degeneration with variable involvement of the

brainstem and spinal cord. SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are

characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy,

ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is characterized by

hyporeflexia, myoclonus and action tremor and dopamine-responsive parkinsonism. Note=SCA2 is caused by expansion of a

CAG repeat resulting in about 36 to 52 repeats in some patients. Longer expansions result in earlier the expansion,

onset of the disease

Defects in ATXN2 are a cause of susceptibility to amyotrophic lateral sclerosis type 13 (ALS13) [MIM:183090].

It is a neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain

stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to

5 years. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and

environmental factors. The disease is inherited in 5-10% of the cases. Note=An increased risk for developing

amyotrophic lateral sclerosis is seems to be conferred by CAG repeat intermediate expansions greater than 23 but below

the threshold for developing spinocerebellar ataxia

20/44 diseases for ATXN2 (see all 44): About MalaCards

spinocerebellar ataxia ataxia cerebellar ataxia optic atrophy

peripheral neuropathy machado-joseph disease dentatorubral-pallidoluysian atrophy ophthalmoplegia

spinocerebellar ataxia type 7 dementia neuropathy olivopontocerebellar atrophy

restless legs syndrome friedreich ataxia spinocerebellar degeneration cerebellar degeneration

corpus callosum autonomic dysfunction amyotrophic lateral sclerosis essential tremor

4 diseases from the University of Copenhagen DISEASES database for ATXN2:

Spinocerebellar ataxia Amyotrophic lateral sclerosis dentatorubral-pallidoluysian atrophy Cerebellar ataxia

10/21 Novoseek disease relationships for ATXN2 gene (see all 21) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
spinocerebellar ataxia type 2	98.8	67	10090679 (2), 20016785 (2), 9989626 (2), 9480749 (2) (see all 44)
spinocerebellar ataxias	90.6	8	9339681 (1), 10090679 (1), 11563629 (1), 9339711 (1) (see all 8)
sca12	88.8	5	11914409 (1), 19235102 (1), 17420317 (1)
drpla	87.8	17	9613852 (3), 17650485 (2), 10453742 (2), 9109985 (1) (see all 10)
sca17	85.4	7	17650485 (2), 19235102 (2), 17420317 (1)
ataxias hereditary	81.2	5	17420317 (1), 19473475 (1)
machado-joseph disease	80.2	6	9109985 (1), 9613852 (1), 17420317 (1), 9225982 (1)
spinocerebellar degenerations	76.9	4	20016785 (1), 18602463 (1), 17392519 (1), 15342467 (1)
spinocerebellar ataxia type 7	75.1	1	8968739 (1)
neurodegenerative diseases	73.1	25	10222771 (1), 16128876 (1), 11872620 (1), 15265035 (1) (see all 17)

GeneTests: ATXN2

Spinocerebellar Ataxia Type 2

Genetic Association Database (GAD): ATXN2
Human Genome Epidemiology (HuGE) Navigator: ATXN2 (20 documents)

Export disorders for ATXN2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ATXN2 gene, integrated from 9 sources (see all 188):
(articles sorted by number of sources associating them with ATXN2)

Utopia: connect your pdf to the dynamic
world of online information

Ataxin-2 and its Drosophila homolog, ATX2, physically assemble with polyribosomes. (PubMed id 16835262)^{1, 2, 9} Satterfield T.F. and Pallanck L.J. (2006)
Ataxin-2 associates with the endocytosis complex and affects EGF receptor trafficking. (PubMed id 18602463)^{1, 2, 9} Nonis D....Auburger G. (2008)
A novel protein with RNA-binding motifs interacts with ataxin-2. (PubMed id 10814712)^{1, 2, 9} Shibata H.... Pulst S.-M. (2000)
Genomic structure of the human gene for spinocerebellar ataxia type 2 (SCA2) on chromosome 12q24.1. (PubMed id 9480749)^{1, 2, 9} Sahba S.... Pulst S.-M. (1998)
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. (PubMed id 8896556)^{1, 2, 9} Sanpei K....Tsuji S. (1996)
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. (PubMed id 15148151)^{1, 4, 9} Brusco A....Taroni F. (2004)
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. (PubMed id 20740007)^{1, 2} Elden A.C.... Gitler A.D. (2010)
CAG repeats in Restless Legs syndrome. (PubMed id 16389595)^{1, 4} Konieczny M....Schols L. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease. (PubMed id 14756671)^{1, 4} Wu Y.R....Lee-Chen G.J. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 6311	HGNC: 10555	AceView: ATXN2.3	Ensembl:ENSG00000204842	euGenes: HUgn6311
ECgene: ATXN2	H-InvDB: ATXN2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ATXN2	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATXN2

Intellectual Property for ATXN2 gene
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Patent Information for ATXN2 gene:
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GeneCards and IP:
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Spinocerebellar Ataxias
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ATXN2 Gene

ataxin 2

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