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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... See more...
Aliases for ATXN7 Gene
Aliases for ATXN7 Gene
External Ids for ATXN7 Gene
- HGNC: 10560
- NCBI Entrez Gene: 6314
- Ensembl: ENSG00000163635
- OMIM®: 607640
- UniProtKB/Swiss-Prot: O15265
Previous HGNC Symbols for ATXN7 Gene
- SCA7
Previous GeneCards Identifiers for ATXN7 Gene
- GC03P063825
Summaries for ATXN7 Gene
-
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 37-306 CAG repeats (near the N-terminus), compared to 4-35 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, Jul 2016]
GeneCards Summary for ATXN7 Gene
ATXN7 (Ataxin 7) is a Protein Coding gene. Diseases associated with ATXN7 include Spinocerebellar Ataxia 7 and Retinal Degeneration. Among its related pathways are Chromatin organization and Akt Signaling. Gene Ontology (GO) annotations related to this gene include chromatin binding. An important paralog of this gene is ATXN7L1.
UniProtKB/Swiss-Prot Summary for ATXN7 Gene
-
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.
Additional gene information for ATXN7 Gene
No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATXN7 Gene
Genomics for ATXN7 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ATXN7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around ATXN7 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATXN7
- Top Transcription factor binding sites by QIAGEN in the ATXN7 gene promoter:
-
- FOXL1
- GATA-1
- PPAR-gamma2
- TBP
- TFIID
Genomic Locations for ATXN7 Gene
Latest Assembly
- chr3:63,863,144-64,003,462
- (GRCh38/hg38)
- Size:
- 140,319 bases
- Orientation:
- Plus strand
Previous Assembly
- chr3:63,848,820-63,989,138
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 140,319 bases
- Orientation:
- Plus strand
Genomic View for ATXN7 Gene
Genes around ATXN7 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p14.1 by HGNC
- 3p14.1 by Entrez Gene
- 3p14.1 by Ensembl
ATXN7 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ATXN7 Gene
Proteins for ATXN7 Gene
-
Protein details for ATXN7 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O15265-ATX7_HUMAN
- Recommended name:
- Ataxin-7
- Protein Accession:
- O15265
- B4E207
- E9PHP9
- O75328
- O75329
- Q9Y6P8
Protein attributes for ATXN7 Gene
- Size:
- 892 amino acids
- Molecular mass:
- 95451 Da
- Quaternary structure:
-
- 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.
Protein Expression for ATXN7 Gene
Post-translational modifications for ATXN7 Gene
- Proteolytically cleaved. The cleavage may be involved in SCA7 degeneration: the isoform fragments may exert distinct toxic influences that could contribute to selective neurodegeneration.
- 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 complex.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for ATXN7 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- G Biosciences Immunotag™ ATXN7 Antibody
-
Custom Antibody ServicesOriGene Antibodies for ATXN7
- Novus Biologicals Antibodies for ATXN7
-
Abcam antibodies for ATXN7
- Invitrogen Antibodies for ATXN7 (AFLGC-ATXN7)
-
Boster Bio Antibodies for ATXN7
-
Custom Antibody ServicesProSci Antibodies for ATXN7
Protein products for research
-
OriGene Purified Proteins for ATXN7
- Search Origene for MassSpec and Protein Over-expression Lysates for ATXN7
- Origene Custom Protein Services for ATXN7
-
Abcam proteins for ATXN7
Assay products for research
No data available for DME Specific Peptides for ATXN7 Gene
Domains & Families for ATXN7 Gene
Gene Families for ATXN7 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
Suggested Antigen Peptide Sequences for ATXN7 Gene
- GenScript: Design optimal peptide antigens:
-
- Spinocerebellar ataxia type 7 protein (ATX7_HUMAN)
- Spinocerebellar ataxia 7 (O43180_HUMAN)
- Spinocerebellar ataxia type 7 (Q8TEZ8_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O15265- Family:
-
- Belongs to the ataxin-7 family.
Function for ATXN7 Gene
Molecular function for ATXN7 Gene
- UniProtKB/Swiss-Prot 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.
Phenotypes From GWAS Catalog for ATXN7 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 11371513 |
Phenotypes for ATXN7 Gene
- MGI mutant phenotypes for ATXN7:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for ATXN7:
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATXN7 - Starting at $85 >
- * ATXN7 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ATXN7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATXN7
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATXN7
miRNA for ATXN7 Gene
- miRTarBase miRNAs that target ATXN7
-
- hsa-miR-192-5p (MIRT004157)
- mmu-miR-340-5p (MIRT010723)
- hsa-miR-423-3p (MIRT016681)
- hsa-miR-342-3p (MIRT043675)
- hsa-miR-92a-3p (MIRT049634)
- hsa-miR-17-5p (MIRT050978)
- hsa-miR-3978 (MIRT447213)
- hsa-miR-4753-3p (MIRT447214)
- hsa-miR-452-3p (MIRT447215)
- hsa-miR-5093 (MIRT447216)
- hsa-miR-9-5p (MIRT447217)
- hsa-miR-130b-5p (MIRT447218)
- hsa-miR-4635 (MIRT450293)
- mmu-miR-466f-3p (MIRT584704)
- mmu-miR-329-3p (MIRT584705)
- mmu-miR-362-3p (MIRT584706)
- mmu-miR-466i-3p (MIRT584707)
- mmu-miR-342-3p (MIRT584708)
- mmu-miR-377-3p (MIRT584709)
- mmu-miR-3473c (MIRT593236)
- hsa-miR-6833-3p (MIRT641306)
- hsa-miR-4768-5p (MIRT641307)
- hsa-miR-6873-3p (MIRT641308)
- hsa-miR-519e-5p (MIRT641309)
- hsa-miR-515-5p (MIRT641310)
- hsa-miR-502-5p (MIRT641311)
- hsa-miR-211-5p (MIRT641312)
- hsa-miR-204-5p (MIRT641313)
- hsa-miR-3124-3p (MIRT641314)
- hsa-miR-6845-3p (MIRT641315)
- hsa-miR-4685-3p (MIRT641316)
- hsa-miR-4287 (MIRT641317)
- hsa-miR-5695 (MIRT641318)
- hsa-miR-519d-5p (MIRT641319)
- hsa-miR-6832-3p (MIRT641320)
- hsa-miR-4262 (MIRT641321)
- hsa-miR-181d-5p (MIRT641322)
- hsa-miR-181c-5p (MIRT641323)
- hsa-miR-181b-5p (MIRT641324)
- hsa-miR-181a-5p (MIRT641325)
- hsa-miR-19a-3p (MIRT728245)
- hsa-miR-19b-3p (MIRT728246)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATXN7
- Browse OriGene Inhibitory RNA Products For ATXN7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN7
Clone products for research
- Applied Biological Materials (abm): Clones for ATXN7 - Starting at $45 >
- * ATXN7 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ATXN7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATXN7
Cell Lines for research
-
Horizon Cell Lines for ATXN7
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ATXN7 Gene
Localization for ATXN7 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ATXN7 Gene
- [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.
- [Isoform b]: Cytoplasm.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 2 |
| mitochondrion | 2 |
| plasma membrane | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (2)
- Cytosol (2)
- Nucleoplasm (2)
- Nucleoplasm (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | TAS,IDA | 22100762 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005730 | nucleolus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for ATXN7 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Chromatin organization | ||
| 2 | Deubiquitination |
.74
|
|
| 3 | Metabolism of proteins | ||
| 4 | Akt Signaling |
Akt Signaling
.60
|
|
| 5 | Chks in Checkpoint Regulation |
Parkinson's Disease Pathway
.31
|
|
Pathways by source for ATXN7 Gene
7 Reactome pathways for ATXN7 Gene
2 Qiagen pathways for ATXN7 Gene
- Akt Signaling
- Parkinson's Disease Pathway
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000226 | microtubule cytoskeleton organization | IMP | 22100762 |
| GO:0006997 | nucleus organization | TAS | 10441328 |
| GO:0007026 | negative regulation of microtubule depolymerization | IMP | 22100762 |
| GO:0007601 | visual perception | TAS | 9288099 |
| GO:0016578 | histone deubiquitination | IDA | 18206972 |
Transcripts for ATXN7 Gene
mRNA/cDNA for ATXN7 Gene
- 5 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000295900 7224 nts (view in UCSC)
- ENST00000466529 758 nts (view in UCSC)
- ENST00000472569 536 nts (view in UCSC)
- ENST00000474112 3367 nts (view in UCSC)
- ENST00000474513 728 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATXN7 - Starting at $85 >
- * ATXN7 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ATXN7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATXN7
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATXN7
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATXN7
- Browse OriGene Inhibitory RNA Products For ATXN7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN7
Clone products for research
- Applied Biological Materials (abm): Clones for ATXN7 - Starting at $45 >
- * ATXN7 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ATXN7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATXN7
| 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: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - |
Relevant External Links for ATXN7 Gene
- GeneLoc Exon Structure for
- ATXN7
Expression for ATXN7 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
- Brain (Nervous System)
-
Colon (Gastrointestinal Tract)
This gene is overexpressed in Adipocyte (39.7) and Pancreatic juice (26.8).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATXN7 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATXN7
SOURCE GeneReport for Unigene cluster for ATXN7 Gene:
Hs.476595mRNA Expression by UniProt/SwissProt for ATXN7 Gene:
O15265-ATX7_HUMAN
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.
Evidence on tissue expression from TISSUES for ATXN7 Gene
- Blood(4.4)
- Intestine(4.3)
- Nervous system(2.9)
- Eye(2.2)
- Skin(2.2)
- Muscle(2.1)
- Kidney(2.1)
- Liver(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ATXN7 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- nervous
- skeletal muscle
Regions:
Head and neck:
- brain
- cerebellum
- cranial nerve
- eye
- face
- head
- mouth
- pharynx
Thorax:
- esophagus
Abdomen:
- stomach
Limb:
- foot
- lower limb
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer products for research
-
OriGene qPCR primer pairs for ATXN7
Gene Expression Assays for research
No data available for mRNA differential expression in normal tissues for ATXN7 Gene
Orthologs for ATXN7 Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ATXN7 29 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ATXN7 29 30 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ATXN7 29 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Atxn7 29 16 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Atxn7 29 |
|
||
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 30 |
|
OneToMany | |
| -- 30 |
|
OneToMany | |||
| -- 30 |
|
OneToMany | |||
| Oppossum (Monodelphis domestica) |
Mammalia | ATXN7 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ATXN7 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ATXN7 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atxn7 29 |
|
||
| Str.19360 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.21192 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | LOC100001490 29 |
|
||
| ATXN7 30 |
|
OneToOne | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 30 |
|
OneToMany |
- Species where no ortholog for ATXN7 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Fruit Fly (Drosophila melanogaster)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
Evolution for ATXN7 Gene
- ENSEMBL:
- Gene Tree for ATXN7 (if available)
- TreeFam:
- Gene Tree for ATXN7 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATXN7: view image
- Alliance of Genome Resources:
- Additional Orthologs for ATXN7
Paralogs for ATXN7 Gene
Variants for ATXN7 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN7 Gene
- ATX7_HUMAN-O15265
- 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.
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATXN7 Gene
| SNP ID | Clinical significance and condition | Chr 03 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 931863 | Benign: Spinocerebellar ataxia 7 | 63,996,474(+) |
CCTT/C NM_001377405.1(ATXN7):c.2654_2656del (p.Leu885del) |
INFRAME_DELETION | |
| rs1053338 | Likely Benign: not specified | 63,982,224(+) |
A/Gp.Lys264Arg NM_000333.3(ATXN7):c.791A>G (p.Lys264Arg) |
MISSENSE | |
| rs1216716369 | Uncertain Significance: Spinocerebellar ataxia 7 | 63,912,708(+) |
A/AGCCGCC NM_000333.3(ATXN7):c.112_113insCGCCGC (p.Gln38_Gln39insProPro) |
INFRAME_INSERTION | |
| rs1575997996 | Uncertain Significance: not provided | 63,990,815(+) |
C/A NM_001377405.1(ATXN7):c.1638C>A (p.Ala546=) |
SYNONYMOUS | |
| rs180696871 | Likely Benign: not specified | 63,999,481(+) |
C/A NM_001177387.1(ATXN7):c.2760C>A (p.Ser920Arg) |
MISSENSE_VARIANT,THREE_PRIME_UTR |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2725348 | CNV | deletion | 23290073 |
| esv32871 | CNV | loss | 17666407 |
| nsv1072697 | CNV | deletion | 25765185 |
| nsv1118974 | CNV | deletion | 24896259 |
| nsv3850 | CNV | deletion | 18451855 |
| nsv509828 | OTHER | sequence alteration | 20534489 |
| nsv954873 | CNV | duplication | 24416366 |
Residual Variation Intolerance Score:
13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
12.38;
94.22% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ATXN7 Gene
SNP Genotyping and Copy Number Assays for research
Disorders for ATXN7 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinocerebellar ataxia 7 |
|
|
| retinal degeneration |
|
|
| hereditary ataxia |
|
|
| machado-joseph disease |
|
|
| spinocerebellar ataxia 12 |
|
|
Search ATXN7 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ATX7_HUMAN- Spinocerebellar ataxia 7 (SCA7) [MIM:164500]: 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. {ECO:0000269 PubMed:9288099}. Note=The disease is caused by variants affecting the gene represented in this entry.
Additional Disease Information for ATXN7
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Publications for ATXN7 Gene
- Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. (PMID: 9288099) David G … Brice A (Nature genetics 1997) 3 4 22 72
- SUMOylation attenuates the aggregation propensity and cellular toxicity of the polyglutamine expanded ataxin-7. (PMID: 19843541) Janer A … Sittler A (Human molecular genetics 2010) 3 4 22
- Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. (PMID: 19235102) Rajkiewicz M … Zaremba J (Neurologia i neurochirurgia polska 2008) 3 22 40
- Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. (PMID: 15115762) Helmlinger D … Devys D (Human molecular genetics 2004) 3 4 22
- A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. (PMID: 12533095) Einum DD … Fu YH (Archives of neurology 2003) 3 4 22
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