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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ATXN7 Gene

protein-coding GIFtS: 60
GCID: GC03P063825

ataxin 7

(Previous name: spinocerebellar ataxia 7 (olivopontocerebellar atrophy...)
(Previous symbol: SCA7)

Explore 26 diseases affiliated with
ATXN7 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 7¹ ²		Spinocerebellar Ataxia Type 7 Protein² ³
SCA7¹ ² ³ ⁵		Spinocerebellar Ataxia 7 (Olivopontocerebellar Atrophy With Retinal Degeneration)¹
OPCA3¹ ² ⁵		Ataxin-7¹
ADCAII¹ ²

External Ids:	HGNC: 10560¹	Entrez Gene: 6314²	Ensembl: ENSG00000163635⁷	OMIM: 607640⁵	UniProtKB: O15265³

Export aliases for ATXN7 gene to outside databases

(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 ATXN7:

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. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar

ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with

retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely

homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions.

ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding

protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to

successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased

allele associated with spinocerebellar ataxia-7 contains 38-130 CAG repeats (near the N-terminus), compared to 7-17 in

the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free

TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation.

Alternative splicing results in multiple transcript variants. (provided by RefSeq, Apr 2010)

UniProtKB/Swiss-Prot: ATX7_HUMAN, O15265

Function: Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA

complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton

stabilization

(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_000003.11 NC_018914.1 NT_022517.18

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ATXN7 gene promoter:
TBP TFIID PPAR-gamma2 FOXL1 GATA-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ATXN7 promoter sequence

Search SABiosciences Chromatin IP Primers for ATXN7

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ATXN7

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

Entrez Gene cytogenetic band: 3p21.1-p12 Ensembl cytogenetic band: 3p14.1 HGNC cytogenetic band: 3p21.1-p12

ATXN7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ATXN7 gene location

GeneLoc information about chromosome 3 GeneLoc Exon Structure

GeneLoc location for GC03P063825: view genomic region (about GC identifiers)

Start:	63,850,233 bp from pter	End:	63,989,138 bp from pter
Size:	138,906 bases	Orientation:	plus 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: ATX7_HUMAN, O15265 (See protein sequence)

Recommended Name: Ataxin-7

Size: 892 amino acids; 95451 Da

Subunit: Component of the STAGA transcription coactivator-HAT complex, at least composed of SUPT3H, GCN5L2, TAF5L,

TAF6L, SUPT7L, TADA3L, TAD1L, TAF10, TAF12, TRRAP, TAF9 and ATXN7. The STAGA core complex is associated with a

subcomplex required for histone deubiquitination composed of ATXN7L3, ENY2 and USP22. Interacts with SORBS1, PSMC1 and

CRX. Interacts with TRRAP, GCN5L2 and TAF10. Interacts with alpha tubulin

Subcellular location: Isoform a: Nucleus. Nucleus, nucleolus. Nucleus matrix. Cytoplasm, cytoskeleton. Note=In addition

to a diffuse distribution throughout the nucleus, it is associated with the nuclear matrix and the nucleolus. It is

able to shuttle between the nucleus and cytoplasm

Subcellular location: Isoform b: Cytoplasm

1 PDB 3D structure from and Proteopedia for ATXN7:

2KKR (3D)

Secondary accessions: B4E207 E9PHP9 O75328 O75329 Q9Y6P8

Alternative splicing: 3 isoforms: O15265-1 O15265-2 O15265-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ATXN7: NX_O15265

Post-translational modifications:

Proteolytically cleaved. The cleavage may be involved in SCA7 degeneration: the isoform fragments may exert distinct

toxic influences that could contribute to selective neurodegeneration¹

Sumoylation decreases the aggregation propensity and cellular toxicity of forms with an expanded poly-Gln region but

has no effect on subcellular location or interaction with components of the STAGA complex¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O15265

ATXN7 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_000324.1 NP_001121621.2 NP_001170858.1

ENSEMBL proteins:

ENSP00000418203 ENSP00000295900 ENSP00000420234 ENSP00000428277 ENSP00000428067

ENSP00000381590 ENSP00000439585

Human Recombinant Protein Products for ATXN7:

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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for ATXN7

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): 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:0015630	microtubule cytoskeleton	IDA	--
GO:0016363	nuclear matrix	IEA	--

ATXN7 for ontologies About GeneDecksing

ATXN7 Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of ATXN7
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	Uscn Antibodies for ATXN7
	ThermoFisher Antibody for ATXN7

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	Uscn ELISAs and CLIAs for ATXN7

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

ATXN7 for domains About GeneDecksing

2 InterPro domains/families:

IPR015880 Znf_C2H2-like

IPR013243 SCA7_dom

Graphical View of Domain Structure for InterPro Entry O15265

ProtoNet protein and cluster: O15265

UniProtKB/Swiss-Prot: ATX7_HUMAN, O15265

Similarity: Belongs to the ataxin-7 family

Similarity: Contains 1 SCA7 domain

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: ATX7_HUMAN, O15265

Function: Acts as component of the STAGA transcription coactivator-HAT complex. Mediates the interaction of STAGA

complex with the CRX and is involved in CRX-dependent gene activation. Necessary for microtubule cytoskeleton

stabilization

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003682	chromatin binding	IEA	--
GO:0005515	protein binding	IPI	--
GO:0008270	zinc ion binding	IEA	--

ATXN7 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for ATXN7:

Increased HPV18 LCR reporter a

8 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Atxn7):

behavior/neurological	growth/size	mortality/aging	muscle	nervous system
reproductive system	skeleton	vision/eye

ATXN7 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ATXN7

miRNA Products:		miRTarBase miRNAs that target ATXN7: hsa-mir-192 (MIRT004157)

		OriGene 3'-UTR Clone (see all 2): ATXN7 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATXN7
		8/104 QIAGEN miScript miRNA Assays for microRNAs that regulate ATXN7 (see all 104):
		hsa-miR-548j hsa-miR-520f hsa-miR-607 hsa-miR-361-5p hsa-miR-640 hsa-miR-188-5p hsa-miR-200a hsa-miR-374a

		SwitchGear 3'UTR luciferase reporter plasmid: ATXN7 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for ATXN7
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN7 (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ATXN7 (see all 3) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN7

(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

Signal transduction Activin A signaling regulation

Histone modification

0.31

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for ATXN7

Histone modification

ATXN7 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ATXN7

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

5/95 Interacting proteins for ATXN7 (O15265^{1, 2, 3} ENSP00000381590⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 95)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H3H	P68431³, ENSP00000358160⁴	I2D: score=1 STRING: ENSP00000358160
HIST1H3A	P68431³	I2D: score=1
HIST1H3B	P68431³	I2D: score=1
HIST1H3C	P68431³	I2D: score=1
HIST1H3D	P68431³	I2D: score=1

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000226	microtubule cytoskeleton organization	IMP	--
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0006997	nucleus organization	TAS	10441328
GO:0007601	visual perception	TAS	9288099

ATXN7 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

ATXN7 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ATXN7
2 Novoseek chemical compound relationships for ATXN7 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
glutamine	78.1	43	14571264 (3), 16626296 (3), 19843541 (3), 9536097 (3) (see all 16)
polyacrylamide	28.9	1	11030806 (1)

Search CenterWatch for drugs/clinical trials and news about ATXN7 / ATX7

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
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 ATXN7 gene (3 alternative transcripts):

NM_000333.3 NM_001128149.2 NM_001177387.1

Unigene Cluster for ATXN7:

Ataxin 7

Hs.476595 [show with all ESTs]

Unigene Representative Sequence: NM_000333

14 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000474513 ENST00000474112(uc010hnu.1 uc003dlv.3) ENST00000295900(uc003dlw.4 uc011bfn.2)

ENST00000487717 ENST00000484332 ENST00000475897(uc010hnw.3) ENST00000488239

ENST00000466529 ENST00000472569 ENST00000484668 ENST00000477516 ENST00000522345

ENST00000398590(uc021wzy.1) ENST00000538065

miRNA Products:		OriGene 3'-UTR Clone (see all 2): ATXN7 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ATXN7
		8/104 QIAGEN miScript miRNA Assays for microRNAs that regulate ATXN7 (see all 104):
		hsa-miR-548j hsa-miR-520f hsa-miR-607 hsa-miR-361-5p hsa-miR-640 hsa-miR-188-5p hsa-miR-200a hsa-miR-374a

		SwitchGear 3'UTR luciferase reporter plasmid: ATXN7 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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		Sirion Biotech Custom design and validation of potent shRNA sequences against ATXN7

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ATXN7
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN7

Additional cDNA sequence:

AF032104.1 AJ000517.1 AK125125.1 AK304062.1 AK310745.1

14 DOTS entries:

DT.453149 DT.452437 DT.75174471 DT.120916135 DT.92422885 DT.100746852 DT.92422886 DT.112612

DT.120916097 DT.95124250 DT.97800834 DT.91805687 DT.91922826 DT.92007727

24/145 AceView cDNA sequences (see all 145):

AA865939 CK822890 BX505228 CB217122 AA019806 NM_000333 BQ421037 CA440076

AI436357 AL043992 AL704346 CB161882 AA469964 AW189337 AA019679 BF510366

BX099664 AA352207 F11650 AK125125 AA904018 AA745252 BQ086167 BG568889

GeneLoc Exon Structure

5/8 Alternative Splicing Database (ASD) splice patterns (SP) for ATXN7 (see all 8) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7	^	8a	·	8b	^	9a	·	9b	·	9c	^	10a	·	10b	^	11	^	12a	·	12b	^	13	^	14	^	15	^	16a	·	16b	^	17	^	18a	·	18b
SP1:															-		-						-										-
SP2:
SP3:															-		-
SP4:																							-
SP5:

ECgene alternative splicing isoforms for ATXN7

(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

ATXN7 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AACAAATGTC

About this image

ATXN7 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

9 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Spinal Cord

Spinal Dorsal Columns

Dorsal Spinal Cord Progenitor Cells

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Brain

Medulla Oblongata

Brain

Neural Tube

Diencephalic Ventricular Zone

Neural Tube

Mesencephalic Ventricular Zone

Neural Tube

Metencephalon

Neural Tube

Telencephalon

Neural Tube

Spinal Cord

Spinal Dorsal Columns

Spinal Cord

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ATXN7 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ATXN7

SOURCE GeneReport for Unigene cluster: Hs.476595

UniProtKB/Swiss-Prot: ATX7_HUMAN, O15265

Tissue specificity: Isoform a and isoform b are expressed in CNS, but isoform a is expressed predominantly in the

peripherical tissues. Isoform b is also highly expressed in the frontal lobe, skeletal muscle and spinal cord and is

expressed at a lower level in the lung, lymphoblast and intestine

SABiosciences Custom PCR Arrays for ATXN7

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ATXN7

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ATXN7

(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 animals.

Orthologs for ATXN7 gene from 6/16 species (see all 16) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Atxn7^{1 , 5}	ataxin 7^{1, 5}	87.64(n)¹ 86.95(a)¹		14 (7.08 cM)⁵ 246103¹ NM_139227.4¹ NP_631973.3¹ 14012491⁵
chicken (Gallus gallus)	Aves	ATXN7¹	ataxin 7	78.72(n) 75.41(a)		416078 XM_414415.3 XP_414415.2
lizard (Anolis carolinensis)	Reptilia	ATXN7⁶	--	73(a)	1 ↔ 1	GL343210.1(1882830-1896039)
African clawed frog (Xenopus laevis)	Amphibia	Xl.21192²	Xenopus laevis transcribed sequence with weak similarity more	78.22(n)		BX849063.1
zebrafish (Danio rerio)	Actinopterygii	LOC100001490¹	ataxin-7-like	59.25(n) 55.03(a)		100001490 XM_001341439.4 XP_001341475.4
honey bee (Apis mellifera)	Insecta	--	--	20(a)	1 → many	Group2.11(691755-696425)

ENSEMBL Gene Tree for ATXN7 (if available)
TreeFam Gene Tree for ATXN7 (if available)

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

Paralogs for ATXN7 gene

ATXN7L2² ATXN7L1²

3 SIMAP similar genes for ATXN7 using alignment to 2 protein entries: ATX7_HUMAN (see all proteins):

SCA7 MGC33190 ATXN7L1

ATXN7 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: ATX7_HUMAN, O15265

Polymorphism: The poly-Gln region of ATXN7 is highly polymorphic (4 to 18 repeats) in the normal population and is

expanded to about 38-130 repeats in SCA7 patients. Intermediate alleles with 28 to 35 repeats are prone to further

expansion

SNP ID	Valid	Clinical significance	Chr 3 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs191029591^1,2		--	63848258(+)	`AAGTTC/TCTGGG`	2	--	us2k¹ int¹		0	--	--	--	--
rs183296337^1,2		--	63848658(+)	`ACACAC/TACACA`	2	--	int¹ us2k¹		0	--	--	--	--
rs187430164^1,2		--	63848675(+)	`TTTTAC/TCGTCC`	2	--	us2k¹ int¹		0	--	--	--	--
rs190689560^1,2		--	63848723(+)	`CTCCTC/TACCCC`	2	--	int¹ us2k¹		0	--	--	--	--
rs183309602^1,2		--	63848754(+)	`TTCCTA/GATCAC`	2	--	int¹ us2k¹		0	--	--	--	--
rs149562653^1,2		--	63848816(+)	`CTCCTC/TCTCAC`	2	--	int¹ us2k¹		0	--	--	--	--
rs144231143^1,2		--	63848850(+)	`GCCTCA/GTTGCC`	2	--	us2k¹ int¹		0	--	--	--	--
rs2276863^1,2	C,F,H	--	63849043(-)	`CGAAGG/TGTGGA`	2	--	int¹ us2k¹		6		EA NS NA	1960
rs148334967^1,2		--	63849127(+)	`CTAGCC/TGTCTC`	2	--	int¹ us2k¹		0	--	--	--	--
rs142023103^1,2		--	63849172(+)	`GCTCCC/GGGCAC`	2	--	us2k¹ int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for ATXN7 (63850233 - 63989138 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for ATXN7
1 Indel: 11226
Human Gene Mutation Database (HGMD): ATXN7

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ATXN7

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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

ATXN7 for disorders           About GeneDecksing

OMIM gene information: 607640
OMIM disorders: 164500
UniProtKB/Swiss-Prot: ATX7_HUMAN, O15265

Defects in ATXN7 are the cause of spinocerebellar ataxia type 7 (SCA7) [MIM:164500]; also known as

olivopontocerebellar atrophy III (OPCA III or OPCA3) or olivopontocerebellar atrophy with retinal degeneration.

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. SCA7 belongs to the autosomal dominant

cerebellar ataxias type II (ADCA II) which are characterized by cerebellar ataxia with retinal degeneration and

pigmentary macular dystrophy

20/26 diseases for ATXN7 (see all 26): About MalaCards

spinocerebellar ataxia retinal degeneration spinocerebellar ataxia type 7 ataxia

olivopontocerebellar atrophy cerebellar ataxia retinitis machado-joseph disease

kearns-sayre syndrome intestinal pseudo-obstruction cone-rod dystrophy restless legs syndrome

multiple system atrophy macular degeneration neurodegenerative disease macular dystrophy

huntington's disease hereditary ataxia cerebellar disease neurodegeneration

4 diseases from the University of Copenhagen DISEASES database for ATXN7:

Cerebellar ataxia Retinal degeneration Neurodegenerative disease Ophthalmoplegia

10/13 Novoseek disease relationships for ATXN7 gene (see all 13) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
spinocerebellar ataxia type 7	99.1	43	10602364 (2), 11175279 (2), 10598805 (2), 11354830 (2) (see all 25)
spinocerebellar ataxias	89.5	5	18325672 (2), 19953482 (1), 10369884 (1), 10453742 (1)
sca12	88.9	7	19235102 (2), 11914409 (1), 19953482 (1), 17420317 (1)
sca17	85.6	7	17650485 (2), 19235102 (1), 19953482 (1), 17420317 (1)
drpla	81.9	13	17650485 (2), 19235102 (2), 10453742 (2), 11914409 (1) (see all 7)
ataxias hereditary	78.5	3	11175279 (1), 17420317 (1)
neurodegenerative diseases	74.6	22	10602364 (1), 9736784 (1), 15115762 (1), 16626296 (1) (see all 13)
machado-joseph disease	70.1	4	19953482 (1), 9613852 (1), 17420317 (1)
retinal degeneration	69	4	10598805 (2), 14571264 (1), 9425224 (1)
neurodegeneration	56.8	9	18418675 (2), 12533095 (2), 16962040 (1), 10885657 (1) (see all 6)

GeneTests: ATXN7

Spinocerebellar Ataxia Type 7

Genetic Association Database (GAD): ATXN7
Human Genome Epidemiology (HuGE) Navigator: ATXN7 (7 documents)

Export disorders for ATXN7 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 ATXN7 gene, integrated from 9 sources (see all 104):
(articles sorted by number of sources associating them with ATXN7)

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

Ataxin-7 interacts with a Cbl-associated protein that it recruits into neuronal intranuclear inclusions. (PubMed id 11371513)^{1, 2, 9} Lebre A.-S.... Brice A. (2001)
Association of ataxin-7 with the proteasome subunit S4 of the 19S regulatory complex. (PubMed id 11734547)^{1, 2, 9} Matilla A.... Fu Y.H. (2001)
Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. (PubMed id 15115762)^{1, 2, 9} Helmlinger D.... Devys D. (2004)
Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. (PubMed id 9425224)^{1, 2, 9} Del-Favero J.... Van Broeckhoven C. (1998)
SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7. (PubMed id 19843541)^{1, 2, 9} Janer A.... Sittler A. (2010)
A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. (PubMed id 12533095)^{1, 2, 9} Einum D.D.... Fu Y.H. (2003)
Genomic organisation of the spinocerebellar ataxia type 7 (SCA7) gene responsible for autosomal dominant cerebellar ataxia with retinal degeneration. (PubMed id 10598805)^{1, 3, 9} Michalik A....Van Broeckhoven C. (1999)
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. (PubMed id 9288099)^{1, 2, 9} David G....Brice A. (1997)
Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network. (PubMed id 22100762)^{1, 2} Nakamura Y.... Okazawa H. (2012)
A TFTC/STAGA module mediates histone H2A and H2B deubiquitination, coactivates nuclear receptors, and counteracts heterochromatin silencing. (PubMed id 18206972)^{1, 2} Zhao Y.... Devys D. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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: 6314	HGNC: 10560	AceView: ATXN7	Ensembl:ENSG00000163635	euGenes: HUgn6314
ECgene: ATXN7	H-InvDB: ATXN7

(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 ATXN7	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ATXN7

Intellectual Property for ATXN7 gene
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Patent Information for ATXN7 gene:
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GeneCards and IP:
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