Home
GeneCards Guide
Suite
- GeneALaCart
- GeneDecks
- GeneIP
- GeneNote
- GeneAnnot
- GeneLoc
- GeneTide
Terms and Conditions
- Terms of Use
- 3rd Party Notice
About Us
User Feedback
Mirror sites

Set Analyses:

Generates a file of GeneCards annotations for your list of genes

Advanced Search

ATXN3 Gene

protein-coding GIFtS: 63

GC14M072705

ataxin 3
(Previous names: Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3) )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: SCA3, MJD)

		Products

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

Aliases & Descriptions
ataxin 3¹ ²		Machado-Joseph disease protein 1² ³
ATX3¹ ² ³		olivopontocerebellar ataxia 3²
SCA3² ³ ⁵		josephin²
MJD² ³ ⁵		AT3²
JOS¹ ²		ataxin-3²
Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)¹ ²		OTTHUMP00000221584²
Spinocerebellar ataxia type 3 protein² ³		EC 3.4.19.12³
MJD1² ³

External Ids:	HGNC: 7106¹	Entrez Gene: 4287²	Ensembl: ENSG00000066427⁷	UniProtKB: P54252³

Export aliases for ATXN3 gene to outside databases

Previous GC identifers: GC14M091599 GC14M092524

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

Entrez Gene summary for ATXN3:

Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The

protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the

normal 13-36 to 68-79 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset

and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for

this gene. (provided by RefSeq)

UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252

Function: Interacts with key regulators (CBP, p300 and PCAF) of transcription and represses transcription. Acts as a

histone-binding protein that regulates transcription. Acts as a deubiquitinating enzyme

Gene Wiki entry for ATXN3 (Ataxin 3)

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ATXN3 gene promoter:
         p300   TBP   Sp1   TFIID   USF1   RP58   FOXL1   SREBP-1b   SREBP-1a   SREBP-1c
         Other transcription factors

Search SABiosciences Chromatin IP Primers for ATXN3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for ATXN3

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

Entrez Gene cytogenetic band: 14q21 Ensembl cytogenetic band: 14q32.12 HGNC cytogenetic band: 14q21

ATXN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATXN3 gene location

GeneLoc gene densities for chromosome 14 GeneLoc Exon Structure

GeneLoc location for GC14M072705: view genomic region (about GC identifiers)

Start:	72,705,822 bp from pter
End:	72,754,183 bp from pter
Size:	48,362 bases
Orientation:	minus strand

1 alternative location:

Chr14- 92,524,896-92,572,965

RefSeq DNA sequence:

NC_000014.8 NT_026437.12

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252 (See protein sequence)

Recommended Name: Ataxin-3

Size: 364 amino acids; 41781 Da

Subunit: Interacts with DNA repair proteins RAD23A and RAD23B

Subcellular location: Nucleus matrix. Note=Predominantly nuclear, but not exclusively, inner nuclear matrix

PDB structures from and Proteopedia :

1YZB (3D)

2AGA (3D)

2DOS (3D)

2JRI (3D)

2KLZ (3D)

Secondary accessions: A7LFZ5 O15284 O15285 O15286 Q8N189 Q96TC3 Q96TC4 Q9H3N0

Alternative splicing: 3 isoforms: P54252-1 P54252-2 P54252-3

Explore the universe of human proteins at neXtProt for ATXN3: NX_P54252

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (12 alternative transcripts):

NP_001121168.1 NP_001121169.2 NP_001158246.1 NP_001158248.1 NP_001158249.1 NP_001158250.1 NP_001158251.1 NP_001158252.1

NP_001158253.1 NP_001158254.1 NP_004984.2 NP_109376.1

ENSEMBL proteins:

ENSP00000387442 ENSP00000352324 ENSP00000389376 ENSP00000376965 ENSP00000425322 ENSP00000422073

ENSP00000426697 ENSP00000352872 ENSP00000376967 ENSP00000339110

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates
	GenScript Custom Purified and Recombinant Proteins Services for ATXN3
	Novus Biologicals Proteins for ATXN3
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for ATXN3

4 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IEA	--
GO:0005654	nucleoplasm	TAS	9580663
GO:0005737	cytoplasm	TAS	9124802
GO:0016363	nuclear matrix	IEA	--

About this table

ATXN3 for ontologies About GeneDecksing

Antibodies for ATXN3:

	Millipore Mono- and Polyclonal Antibodies for the study of ATXN3
	Sigma-Aldrich Antibodies for ATXN3
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies
	GenScript Custom Superior Antibodies Services for ATXN3
	Novus Biologicals Antibody for ATXN3
	Epitomics antibodies for ATXN3

Assays for ATXN3:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for ATXN3
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for ATXN3

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

ATXN3 for domains About GeneDecksing

2 InterPro domains/families:

IPR006155 Josephin

IPR003903 Ubiquitin-int_motif

Graphical View of Domain Structure for InterPro Entry P54252

ProtoNet protein and cluster: P54252

2 Blocks protein families:

IPB003903 Ubiquitin interacting motif

IPB006155 Josephin signature

UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252

Similarity: Contains 1 Josephin domain

Similarity: Contains 3 UIM (ubiquitin-interacting motif) repeats

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252

Function: Interacts with key regulators (CBP, p300 and PCAF) of transcription and represses transcription. Acts as a

histone-binding protein that regulates transcription. Acts as a deubiquitinating enzyme

Catalytic activity: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by the

C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal)

Enzyme Number (IUBMB): EC 3.4.19.12

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for ATXN3 Sigma-Aldrich shRNA Panels and shRNA for ATXN3
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 33): ATXN3 OriGene shRNA RFP (see all 33): ATXN3 OriGene basic RS shRNA (see all 33): ATXN3 OriGene siRNA (see all 33): ATXN3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ATXN3

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ATXN3
		8/12 SABiosciences Assays for microRNAs that regulate ATXN3 (see all 12):
		hsa-miR-92a hsa-miR-181c hsa-miR-409-3p hsa-miR-25 hsa-miR-548o hsa-miR-32 hsa-miR-181a hsa-miR-181d

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector (see all 11): ATXN3 OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 13): ATXN3 OriGene untagged cDNA clones in CMV expression vector (see all 4): ATXN3 OriGene 3'-UTR clone (see all 12): ATXN3 Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for ATXN3
		Browse Sino Biological Human cDNA Clones

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for ATXN3

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004221	ubiquitin thiolesterase activity	IEA	--
GO:0005515	protein binding	IPI	16525503
GO:0008233	peptidase activity	IEA	--
GO:0008234	cysteine-type peptidase activity	IEA	--

About this table

ATXN3 for ontologies About GeneDecksing

Animal Models: 1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Atxn3):

behavior/neurological

ATXN3 for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

ATXN3 for pathways About GeneDecksing

1 Millipore Pathway for ATXN3

Proteolysis Putative ubiquitin pathway

1 Kegg Pathway (Kegg details for ATXN3):

hsa04141 Protein processing in endoplasmic reticulum

SABiosciences Pathway-Focused PCR Arrays including ATXN3: PAHS-042A PAHS-089A

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ATXN3

5/17 Interacting proteins for ATXN3 (ENSP00000352872³ P54252^{1, 2}) via UniProtKB, MINT, and/or STRING (see all 17)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
VCP	P55072¹^,²	STRING: ENSP00000351777 EBI-946046,EBI-355164 MINT-2837662 MINT-2837891 MINT-2837871 MINT-2837641 MINT-2838376 MINT-2837835 MINT-7903973 MINT-2838443 MINT-7904025 MINT-2838413 MINT-2837781 MINT-50296 MINT-2837757 MINT-7904005 MINT-50299
C16orf70	Q9BSU1¹^,²	EBI-946046,EBI-946080 MINT-2855422 MINT-2876621
RAD23B	P54727²	STRING: ENSP00000350708 MINT-2790957 MINT-2862523
PSMD7	P51665²	MINT-50298 MINT-50300
SYVN1	Q86TM6²	MINT-7903973 MINT-7904005

About this table

5 Gene Ontology (GO) biological process terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006289	nucleotide-excision repair	TAS	10915768
GO:0007268	synaptic transmission	TAS	7655453
GO:0007399	nervous system development	TAS	9124802
GO:0008219	cell death	IEA	--
GO:0045449	regulation of transcription	IEA	--

About this table

ATXN3 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

ATXN3 for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ATXN3
4 Novoseek chemical compound relationships for ATXN3 gene

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glutamine	86.3	153	10556285 (6), 14659761 (5), 10993685 (3), 11561037 (3) (see all 77)
polyacrylamide	21	2	10465503 (1), 20334689 (1)
cysteine	16.8	9	16020535 (2), 10085113 (1), 14559776 (1), 17079677 (1) (see all 6)
testosterone	0	2	9535906 (1), 11356158 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for ATXN3 Sigma-Aldrich shRNA Panels and shRNA for ATXN3
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 33): ATXN3 OriGene shRNA RFP (see all 33): ATXN3 OriGene basic RS shRNA (see all 33): ATXN3 OriGene siRNA (see all 33): ATXN3
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ATXN3

miRNA:		Browse microRNA Mimics at Sigma-Aldrich Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ATXN3
		8/12 SABiosciences Assays for microRNAs that regulate ATXN3 (see all 12):
		hsa-miR-92a hsa-miR-181c hsa-miR-409-3p hsa-miR-25 hsa-miR-548o hsa-miR-32 hsa-miR-181a hsa-miR-181d

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector (see all 11): ATXN3 OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 13): ATXN3 OriGene untagged cDNA clones in CMV expression vector (see all 4): ATXN3 OriGene 3'-UTR Clone (see all 12): ATXN3 Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for ATXN3

Primers:		OriGene genome-wide validated SYBR primer pairs: ATXN3 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for ATXN3: PPH19855A

REFSEQ mRNAs for ATXN3 gene (12 alternative transcripts):

NM_001127696.1 NM_001127697.2 NM_001164774.1 NM_001164776.1 NM_001164777.1 NM_001164778.1 NM_001164779.1 NM_001164780.1

NM_001164781.1 NM_001164782.1 NM_004993.5 NM_030660.4

Additional cDNA sequence:

AB050194.1 AB209309.1 AK021920.1 AK225884.1 AK307720.1 AK314919.1 BC033711.1 BC095402.1

CR602562.1 GQ176433.1 GQ176434.1 GQ176435.1 GQ176436.1 GQ176437.1 GQ176438.1 GQ176439.1

GQ176440.1 GQ176441.1 GQ176442.1 GQ176443.1 GQ176444.1 GQ176445.1 GQ176446.1 GQ176447.1

GQ176448.1 GQ176449.1 GQ176450.1 GQ176451.1 GQ176452.1 GQ176453.1 GQ176454.1 GQ176455.1

GQ176456.1 GQ176457.1 GQ176458.1 GQ176459.1 GQ176460.1 GQ176461.1 GQ176462.1 GQ176463.1

GQ176464.1 GQ176465.1 GQ176466.1 GQ176467.1 GQ176468.1 GQ176469.1 GQ176470.1 GQ176471.1

GQ176472.1 GQ176473.1 GQ176474.1 GQ176475.1 GQ176476.1 GQ176477.1 GQ176478.1 GQ176479.1

GQ176480.1 GQ176481.1 GQ176482.1 GQ176483.1 GQ176484.1 GQ176485.1 GQ176486.1 GQ176487.1

GQ176488.1 GQ176489.1 GQ176490.1 GQ176491.1 GQ176492.1 GQ176493.1 GQ176494.1 GQ176495.1

GQ176496.1 GQ176497.1 GQ176498.1 GQ176499.1 GQ176500.1 GQ176501.1 GQ176502.1 GQ176503.1

GQ176504.1 GQ176505.1 GQ176506.1 GQ176507.1 GQ176508.1 GQ176509.1 GQ176510.1 GQ176511.1

GQ176512.1 GQ176513.1 GQ176514.1 GQ176515.1 GQ176516.1 GQ176517.1 GQ176518.1 GQ176519.1

GQ176520.1 GQ176521.1 GQ176522.1 GQ176523.1 GQ176524.1 GQ176525.1 GQ176526.1 GQ176527.1

GQ176528.1 GQ176529.1 GQ176530.1 GQ176531.1 GQ176532.1 GQ176533.1 GQ176534.1 GQ176535.1

GQ176536.1 GQ176537.1 GQ176538.1 GQ176539.1 GQ176540.1 GQ176541.1 GQ176542.1 GQ176543.1

GQ176544.1 GQ176545.1 GQ176546.1 GQ176547.1 GQ176548.1 GQ176549.1 GQ176550.1 GQ176551.1

GQ176552.1 GQ176553.1 GQ176554.1 GQ176555.1 GQ176556.1 GQ176557.1 GQ176558.1 GQ176559.1

GQ176560.1 GQ176561.1 GQ176562.1 GQ176563.1 GQ176564.1 GQ176565.1 GQ176566.1 GQ176567.1

GQ176568.1 GQ176569.1 GQ176570.1 GQ176571.1 GQ176572.1 GQ176573.1 GQ176574.1 GQ176575.1

GQ176576.1 GQ176577.1 GQ176578.1 GQ176579.1 GQ176580.1 GQ176581.1 GQ176582.1 GQ176583.1

GQ176584.1 GQ176585.1 GQ176586.1 GQ176587.1 GQ176588.1 GQ176589.1 GQ176590.1 GQ176591.1

GQ176592.1 GQ176593.1 GQ176594.1 GQ176595.1 GQ176596.1 GQ176597.1 GQ176598.1 GQ176599.1

GQ176600.1 GQ176601.1 GQ176602.1 GQ176603.1 GQ176604.1 GQ176605.1 GQ176606.1 GQ176607.1

GQ176608.1 GQ176609.1 GQ176610.1 GQ176611.1 GQ176612.1 GQ176613.1 GQ176614.1 GQ176615.1

GQ176616.1 GQ176617.1 GQ176618.1 GQ176619.1 GQ176620.1 GQ176621.1 GQ176622.1 GQ176623.1

GQ176624.1 GQ176625.1 GQ176626.1 GQ176627.1 GQ176628.1 GQ176629.1 GQ176630.1 GQ176631.1

GQ176632.1 GQ176633.1 GQ176634.1 GQ176635.1 GQ176636.1 GQ176637.1 GQ176638.1 GQ176639.1

GQ176640.1 GQ176641.1 GQ176642.1 GQ176643.1 GQ176644.1 GQ176645.1 GQ176646.1 GQ176647.1

GQ176648.1 GQ176649.1 GQ176650.1 GQ176651.1 GQ176652.1 GQ176653.1 GQ176654.1 GQ176655.1

GQ176656.1 GQ176657.1 GQ176658.1 GQ176659.1 GQ176660.1 GQ176661.1 GQ176662.1 GQ176663.1

GQ176664.1 GQ176665.1 GQ176666.1 GQ176667.1 GQ176668.1 GQ176669.1 GQ176670.1 GQ176671.1

GQ176672.1 GQ176673.1 GQ176674.1 GQ176675.1 GQ176676.1 GQ176677.1 GQ176678.1 GQ176679.1

GQ176680.1 GQ176681.1 GQ176682.1 GQ176683.1 GQ176684.1 GQ176685.1 GQ176686.1 GQ176687.1

GQ176688.1 GQ176689.1 GQ176690.1 GQ176691.1 GQ176692.1 GQ176693.1 GQ176694.1 GQ176695.1

GQ176696.1 GQ176697.1 GQ176698.1 GQ176699.1 GQ176700.1 GQ176701.1 GQ176702.1 GQ176703.1

GQ176704.1 GQ176705.1 GQ176706.1 GQ176707.1 GQ176708.1 GQ176709.1 GQ176710.1 GQ176711.1

GQ176712.1 GQ176713.1 GQ176714.1 GQ176715.1 GQ176716.1 GQ176717.1 GQ176718.1 GQ176719.1

GQ176720.1 GQ176721.1 GQ176722.1 GQ176723.1 GQ176724.1 GQ176725.1 GQ176726.1 GQ176727.1

GQ176728.1 GQ176729.1 GQ176730.1 GQ176731.1 GQ176732.1 GQ176733.1 GQ176734.1 GQ176735.1

GQ176736.1 GQ176737.1 GQ176738.1 GQ176739.1 GQ176740.1 GQ176741.1 GQ176742.1 GQ176743.1

GQ176744.1 GQ176745.1 GQ176746.1 GQ176747.1 GQ176748.1 GQ176749.1 GQ176750.1 GQ176751.1

GQ176752.1 GQ176753.1 GQ176754.1 GQ176755.1 GQ176756.1 GQ176757.1 GQ176758.1 GQ176759.1

GQ176760.1 GQ176761.1 GQ176762.1 GQ176763.1 GQ176764.1 GQ176765.1 GQ176766.1 GQ176767.1

GQ176768.1 GQ176769.1 GQ176770.1 GQ176771.1 GQ176772.1 GQ176773.1 GQ176774.1 GQ176775.1

GQ176776.1 GQ176777.1 GQ176778.1 GQ176779.1 GQ176780.1 GQ176781.1 GQ176782.1 GQ176783.1

GQ176784.1 GQ176785.1 GQ176786.1 GQ176787.1 GQ176788.1 GQ176789.1 GQ176790.1 GQ176791.1

GQ176792.1 GQ176793.1 GQ176794.1 GQ176795.1 GQ176796.1 GQ176797.1 GQ176798.1 GQ176799.1

GQ176800.1 GQ176801.1 GQ176802.1 GQ176803.1 GQ176804.1 GQ176805.1 GQ176806.1 GQ176807.1

GQ176808.1 GQ176809.1 GQ176810.1 GQ176811.1 GQ176812.1 GQ176813.1 GQ176814.1 GQ176815.1

GQ176816.1 GQ176817.1 GQ176818.1 GQ176819.1 GQ176820.1 GQ176821.1 GQ176822.1 GQ176823.1

GQ176824.1 GQ176825.1 GQ176826.1 GQ176827.1 GQ176828.1 GQ176829.1 GQ176830.1 GQ176831.1

GQ176832.1 GQ176833.1 GQ176834.1 GQ176835.1 GQ176836.1 GQ176837.1 GQ176838.1 GQ176839.1

GQ176840.1 GQ176841.1 GQ176842.1 GQ176843.1 GQ176844.1 GQ176845.1 GQ176846.1 GQ176847.1

S75313.1 U63332.1 U64820.1 U64822.1

19 DOTS entries:

DT.425017 DT.443649 DT.87015142 DT.100891031 DT.456211 DT.92425329 DT.92425333 DT.100726270

DT.204093 DT.91732227 DT.95161774 DT.95258069 DT.95261469 DT.100009304 DT.100041932 DT.100009305

DT.92425330 DT.100671959 DT.75139018

24/117 AceView cDNA sequences (see all 117):

BX439196 AB050194 BU153544 BU190081 BE018570 BU663113 AI292001 AA737644

AA905251 BU684328 NM_030660 AA768286 AA961624 BQ775895 BC022245 NM_004993

AA677999 AA352543 D20589 CA425099 CR602562 CD367728 AK021920 AL709144

highest scoring ESTs for ATXN3:

U64820 AB050194 AL709144 BC022245 BC033711 BG434106 BG939925 BM848444 BM851671 BQ269281

Unigene Cluster for ATXN3:

Ataxin 3

Hs.532632 [show with all ESTs]

Unigene Representative Sequence: NM_004993

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for ATXN3 (see all 10)

ExUns:	1	^	2a	·	2b	^	3a	·	3b	^	4a	·	4b	^	5a	·	5b	^	6	^	7	^	8	^	9	^	10a	·	10b	·	10c	^	11a	·	11b
SP1:									-				-				-		-
SP2:									-		-		-				-		-
SP3:			-		-				-				-				-		-
SP4:							-		-				-				-		-
SP5:							-		-		-		-		-		-		-

About this scheme

ECgene alternative splicing isoforms for ATXN3
16 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000506845 ENST00000447800 ENST00000359366 ENST00000429774 ENST00000507965

ENST00000506466 ENST00000393287 ENST00000502250 ENST00000454964 ENST00000515746

ENST00000503767 ENST00000359819(uc001yac.3 uc010aug.2 uc001yad.3 uc010auh.2 uc001yae.3 uc010twl.1)

ENST00000393289 ENST00000504047 ENST00000511362 ENST00000340660

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

ATXN3 expression in normal and diseased human tissues

¹ / ² / ³

13 probe-sets matching ATXN3 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
36819_at²^{, 3}	U95-A	1	1.00	1.00	0.77	0.52	U64820	1.00	1.00	1.00	1
82526_at²^{, 3}	U95-E	1	0.88	1.00	0.79	0.65	AW001014	0.60	1.00	0.82	1
56787_at²^{, 3}	U95-C	1	0.81	1.00	0.92	0.95	W72774	0.20	1.00	0.72	1
60073_f_at²	U95-C	1872	0.69	0.00	0.39	1.89	--	--	--	--	--
36820_r_at²^{, 3}	U95-A	1	0.44	1.00	-0.21	0.22	S75313	0.80	1.00	0.91	1
205415_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AI888099	0.40	1.00	0.76	1
205416_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_004993	0.60	1.00	0.82	1
238723_at²^{, 3}	U133-B	1	0.91	1.00	--	--	AW083849	0.40	1.00	0.76	1
235240_at²^{, 3}	U133-B	1	0.82	1.00	--	--	N51479	0.20	1.00	0.72	1
205415_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
205416_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
238723_at²	U133Plus2	1	0.91	1.00	--	--	--	--	--	--	--
235240_at²	U133Plus2	1	0.82	1.00	--	--	--	--	--	--	--

About this table

ATXN3 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

ATXN3 gene electronic northern expression

About these images

CGAP SAGE TAG: ATACAAGTGC

SOURCE GeneReport for Unigene cluster: Hs.532632

UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252

Tissue specificity: Ubiquitous

Primers:		OriGene genome-wide validated SYBR primer pairs: ATXN3 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for ATXN3: PPH19855A

SABiosciences Expression via Pathway-Focused PCR Arrays including ATXN3: PAHS-042A PAHS-089A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for ATXN3 gene from 5/12 species (see all 12)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	ATXN3¹	--	ataxin 3	93.22(n) 95.93(a)	480229 XM_537352.2 XP_537352.2
chimpanzee (Pan troglodytes)	ATXN3¹	--	ataxin 3	98.98(n) 98.89(a)	738729 XM_001146850.1 XP_001146850.1
cow (Bos taurus)	ATXN3¹	--	ataxin 3	90.72(n) 91.48(a)	790880 XM_001257248.1 XP_001257249.1
rat (Rattus norvegicus)	Atxn3¹	--	ataxin 3	85.69(n) 87.01(a)	60331 NM_021702.1 NP_067734.1
mouse (Mus musculus)	Atxn3^{1 , 5}	12 (51.32 cM)⁵	ataxin 3^{1, 5}	88.14(n)¹ 87.01(a)¹	110616¹ NM_029705.2¹ NP_083981.1¹ AA175228⁵ AF537188⁵ (see all 16)

About this table Species with no ortholog for ATXN3

ENSEMBL Gene Tree for ATXN3 (if available)

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

Paralogs for ATXN3 gene

ATXN3L²

ATXN3 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252

Polymorphism: The poly-Gln region of ATXN3 is highly polymorphic (14 to 41 repeats) in the normal population and is

expanded to about 55-82 repeats in spinocerebellar ataxia 3 (SCA3) patients

Polymorphism: The MJD1a allele carries a single nucleotide substitution in codon 349 generating a stop codon instead of

a Tyr. In the Japanese population, the MJD1a allele seems to be significantly associated with Gln expansion

SNP ID	Valid	Chr 14 pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs709930^1,2	C,F,A,	92530513(+)	`ACCGAC/TGCATT`	11	--	ut3¹		26	MN NS EA NA WA	1990
rs761551^1,2	C,F,A,	92547145(+)	`AAACTG/TCTAGC`	11	--	int¹		6	NS WA	234
rs761552^1,2	C,F,A,	92547176(+)	`TGCCCG/ATCCTA`	11	--	int¹		12	NS EA NA WA	686
rs761553^1,2	C,F,A,	92547425(+)	`CAACAC/GAACAA`	11	--	int¹		9	NS NA EA WA	396
rs872756^1,2	C,F,O,	92547924(-)	`TCCATA/GTGGTG`	11	--	int¹		12	NA NS EA WA	534
rs910369^1,2	C,F,O,A,	92530282(+)	`GCCAAC/ATTACC`	11	--	ut3¹		28	NA MN NS EA WA	1958
rs978219^1,2	C,F,O,	92557977(+)	`CATTTT/AAAAAA`	11	--	int¹		3	NA EA WA	210
rs978220^1,2	C,F,A,H,	92558135(+)	`ctctgT/Ggctcc`	11	--	int¹		7	NS EA NA WA	532
rs1047795^1,2	C,F,O,	92525145(-)	`TGTTGT/CTTGGC`	11	--	ut3¹		12	MN NA NS EA WA	952
rs1048755^1,2	C,F,O,	92548785(-)	`AACGAG/ATGTTA`	17	/M /V	mis¹ ref¹ int¹		24	EA MN NS NA WA	3204

About this table

HapMap Linkage Disequilibrium images for ATXN3 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ATXN3: --

QIAGEN SeqTarget long-range PCR primers for resequencing ATXN3

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ATXN3 for disorders About GeneDecksing

OMIM: 607047 disorders: 109150

UniProtKB/Swiss-Prot: ATX3_HUMAN, P54252

Defects in ATXN3 are the cause of spinocerebellar ataxia type 3 (SCA3) [MIM:109150]; also known as

Machado-Joseph disease (MJD). 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 degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA3

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. The molecular defect in SCA3 is the a CAG repeat expansion in ATXN3 coding region.

Longer expansions result in earlier onset and more severe clinical manifestations of the disease

10/25 Novoseek disease relationships for ATXN3 gene (see all 25)

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
machado-joseph disease	98.7	137	10465503 (2), 11446399 (2), 8528200 (2), 8800925 (1) (see all 84)
spinocerebellar ataxias	90.7	20	15140190 (2), 7655453 (1), 15316156 (1), 16791428 (1) (see all 14)
drpla	84.5	18	17650485 (2), 19235102 (2), 10453742 (2), 9613852 (2) (see all 12)
spinocerebellar degenerations	83.7	7	17696782 (1), 17983597 (1), 12857950 (1), 12938149 (1) (see all 5)
neurodegenerative diseases	81.9	46	14659761 (2), 12857950 (2), 8800925 (1), 8659514 (1) (see all 33)
sca12	76	5	19235102 (2), 11914409 (1), 17420317 (1)
sca17	76	5	17650485 (2), 19235102 (1), 17420317 (1)
spinocerebellar ataxia type 2	75.1	4	19672991 (1), 15265035 (1), 17440947 (1)
facial myokymia	69.4	1	9562258 (1)
ataxias hereditary	66.5	2	18042234 (1), 17420317 (1)

About this table

GeneTests: ATXN3

Spinocerebellar Ataxia Type 3

Human Gene Mutation Database (HGMD): ATXN3
Genetic Association Database (GAD): ATXN3
Human Genome Epidemiology (HuGE) Navigator: ATXN3 (20 documents)

Export disorders and mutations for ATXN3 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section

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

10/254 PubMed articles for ATXN3 gene, integrated from 7 sources (see all 254):
(articles sorted by number of sources associating them with ATXN3)

Structural modeling of ataxin-3 reveals distant homology to adaptins. (PubMed id 12486728)^{1, 2, 7} Albrecht M....Lengauer T. (2003)
Deubiquitinating function of ataxin-3: insights from the solution structure of the Josephin domain. (PubMed id 16118278)^{1, 2, 7} Mao Y....De Camilli P. (2005)
Identification of three novel polymorphisms in the MJD1 gene and study of their frequency in the Portuguese population. (PubMed id 12166658)^{1, 4, 7} Costa M.d.o. .C....Maciel P. (2002)
Ataxin-3 is a histone-binding protein with two independent transcriptional corepressor activities. (PubMed id 12297501)^{1, 2, 7} Li F.... Chakravarti D. (2002)
Ataxin-3 is transported into the nucleus and associates with the nuclear matrix. (PubMed id 9580663)^{1, 2, 7} Tait D.... Wanker E.E. (1998)
Machado-Joseph disease gene products carrying different carboxyl termini. (PubMed id 9274833)^{1, 2, 7} Goto J.... Kanazawa I. (1997)
CAG repeats in Restless Legs syndrome. (PubMed id 16389595)^{1, 4} Konieczny M....Schols L. (2006)
Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders. (PubMed id 15210524)^{1, 4} Smith C.O....Bird T.D. (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)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek 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: 4287	HGNC: 7106	AceView: ATXN3	Ensembl:ENSG00000066427	euGenes: HUgn4287
ECgene: ATXN3	Kegg: 4287	H-InvDB: ATXN3

(According to HUGE)
About This Section

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

Name	Description
ATLAS Chromosomes in Cancer entry for ATXN3	Genetics and Cytogenetics in Oncology and Haematology
NIEHS-SNPs	http://egp.gs.washington.edu/data/atxn3/
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATXN3

Intellectual Property for ATXN3 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from XenneX, Inc.)

About This Section

Patent Information for ATXN3 gene:
Search GeneIP for patents involving ATXN3

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
About This Section

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for ATXN3		Antibodies for ATXN3
	Super-pooled esiRNAs for ATXN3		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for ATXN3		Browse microRNA Mimics at Sigma-Aldrich
	"Your Favorite Gene" Pathways and Molecular Interaction Networks		Browse Nano Scale siRNA at Sigma-Aldrich
	Browse iPSC Reprogramming Factors at Sigma-Aldrich		Browse small molecules at Sigma-Aldrich
	Browse FLAG tag genes at Sigma-Aldrich		Browse ELISAs at Sigma-Aldrich
	Browse microRNA Target Validation Systems at Sigma-Aldrich		Browse CompoZr Knockout ZFN at Sigma-Aldrich
	feedback

	Antibodies		Cell Culture Products
	ELISAs		Flow Cytometry Kits
	Primer Pairs		Kinase Activity Assays/Reagents
	ELISpot Kits/Development Modules		TFB/Immunoprecipitation Assays
	Apoptosis Detection Kits/Reagents		Protease Activity Assays/Reagents
	DNA Damage/Repair Kits/Reagents		Multiplex/Array Assay Kits/Reagents
	Cell Selection/Detection Kits/Reagents		ELISA/Assay Development Kits/Reagents
	Phosphatase Activity Assays/Reagents		Recombinant/Natural Proteins

	Tagged/untagged cDNA clones
	Validated SYBR primer pairs
	Purified proteins from HEK293T cells
	Lysates
	Western blot validated antibodies
	shRNA in GFP-retroviral vector
	siRNA
	Custom Immunoassay Development
	Fluorogenic Cell Assay Kits
	miRNA Primers for qPCR Assays
	3' UTR Clones for miRNA Target Studies
	miRNA Expression Plasmids

	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of ATXN3
	SeqTarget long-range PCR primers for resequencing ATXN3
	QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for ATXN3
	QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of ATXN3

	GenScript Custom Purified and Recombinant Proteins Services for ATXN3		GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for ATXN3
	GenScript Custom Assay Services for ATXN3		GenScript Custom Superior Antibodies Services for ATXN3
	GenScript Custom overexpressing Cell Line Services for ATXN3		CloneReady with Over 120,000 Genes
	Gene Synthesis: Any Gene in Any Vector		Vector-based siRNA and miRNA, Ready for Transfection
	Gene Mutant Library, Variants up to 10^11		Plasmid Preparation
	Custom Peptide Services

Search for Antibodies & Assays

	Regulatory tfbs in ATXN3 promoter
	Search Chromatin IP Primers for ATXN3
	RT² qPCR Primer Assay for ATXN3
	GNC Network for ATXN3
	Assays for microRNAs that regulate ATXN3
	SABiosciences PCR Arrays including ATXN3

Search Tocris compounds for ATXN3

	Browse Sino Biological Proteins and Antibodies
	Browse Sino Biological cDNA Clones
	Antibodies/Proteins Production Services
	Rabbit Monoclonal Antibody Platform
	Bulk Purchasing

Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

	Novus Tissue Slides
	Antibodies for ATXN3
	Proteins for ATXN3

Antibodies for ATXN3

Recombinant Protein for ATXN3

ELISAs and CLIAs for ATXN3

GeneCards Homepage - Last full update: 30 Dec 2010 - Incremental updates: 10 Jan 2011 , 10 Jan 2011

View Random Gene

Category
GIFtS Group

The GeneCards human gene database gene index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

ATXN3 gene at Home site.

hostname: www-ab3 db genecards_305 index build: 81e solr: 1.4

Advanced Search

Export list of displayed genes

ATXN3 Gene

protein-coding GIFtS: 63

Aliases &
Descriptions
for ATXN3 gene

Summaries
for ATXN3 gene

Genomic Views
for ATXN3 gene

Proteins
for ATXN3 gene

Protein Domains/
Families
for ATXN3 gene

Gene Function
for ATXN3 gene

Pathways & Interactions
for ATXN3 gene

Drugs & Compounds
for ATXN3 gene

Transcripts
for ATXN3 gene

Expression
for ATXN3 gene

Orthologs
for ATXN3 gene

Paralogs
for ATXN3 gene

Genomic Variants
for ATXN3 gene

Disorders & Mutations
for ATXN3 gene

Medical News
for ATXN3 gene

Publications
for ATXN3 gene

External Searches for ATXN3 gene

Genome Databases showing ATXN3 gene

Other Databases showing ATXN3 gene

Specialized Databases showing ATXN3 gene

Intellectual Property
for ATXN3 gene

Products
for ATXN3 gene

View Random Gene

Spinocerebellar Ataxias
Friedreich Ataxia
Neurodegenerative Diseases
Spinocerebellar Ataxia Type 1
Machado-Joseph Disease
DRPLA
Neurological Disorders
Shock
Spinocerebellar Ataxia Type 2
Facial Myokymia
promyelocytic leukemia
Hepatic Encephalopathy
OBESITY
Narcolepsy
SCA17
Atrophy
Ataxias Hereditary
neurodegeneration
Brain Diseases
Spinocerebellar Degenerations
Spinocerebellar Ataxia Type 3
SCA12
Neuropathology
Huntington Disease
Parkinsonism
Dysphagia

Advanced Search

Export list of displayed genes

ATXN3 Gene

protein-coding GIFtS: 63

Aliases & Descriptionsfor ATXN3 gene

Summariesfor ATXN3 gene

Genomic Viewsfor ATXN3 gene

Proteinsfor ATXN3 gene

Protein Domains/Familiesfor ATXN3 gene

Gene Functionfor ATXN3 gene

Pathways & Interactionsfor ATXN3 gene

Drugs & Compoundsfor ATXN3 gene

Transcriptsfor ATXN3 gene

Expression for ATXN3 gene

Orthologsfor ATXN3 gene

Paralogsfor ATXN3 gene

Genomic Variantsfor ATXN3 gene

Disorders & Mutationsfor ATXN3 gene

Medical Newsfor ATXN3 gene

Publicationsfor ATXN3 gene

External Searches for ATXN3 gene

Genome Databases showing ATXN3 gene

Other Databases showing ATXN3 gene

Specialized Databases showing ATXN3 gene

Intellectual Propertyfor ATXN3 gene

Productsfor ATXN3 gene

View Random Gene

Aliases &
Descriptions
for ATXN3 gene

Summaries
for ATXN3 gene

Genomic Views
for ATXN3 gene

Proteins
for ATXN3 gene

Protein Domains/
Families
for ATXN3 gene

Gene Function
for ATXN3 gene

Pathways & Interactions
for ATXN3 gene

Drugs & Compounds
for ATXN3 gene

Transcripts
for ATXN3 gene

Expression
for ATXN3 gene

Orthologs
for ATXN3 gene

Paralogs
for ATXN3 gene

Genomic Variants
for ATXN3 gene

Disorders & Mutations
for ATXN3 gene

Medical News
for ATXN3 gene

Publications
for ATXN3 gene

Intellectual Property
for ATXN3 gene

Products
for ATXN3 gene