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This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively sp... See more...
Aliases for ATXN10 Gene
Aliases for ATXN10 Gene
External Ids for ATXN10 Gene
- HGNC: 10549
- Entrez Gene: 25814
- Ensembl: ENSG00000130638
- OMIM: 611150
- UniProtKB: Q9UBB4
Previous HGNC Symbols for ATXN10 Gene
- SCA10
Previous GeneCards Identifiers for ATXN10 Gene
- GC22P044388
- GC22P046067
- GC22P029013
Summaries for ATXN10 Gene
-
This gene encodes a protein that may function in neuron survival, neuron differentiation, and neuritogenesis. These roles may be carried out via activation of the mitogen-activated protein kinase cascade. Expansion of an ATTCT repeat from 9-32 copies to 800-4500 copies in an intronic region of this locus has been associated with spinocerebellar ataxia, type 10. Alternatively spliced transcript variants have been described.[provided by RefSeq, Jul 2016]
GeneCards Summary for ATXN10 Gene
ATXN10 (Ataxin 10) is a Protein Coding gene. Diseases associated with ATXN10 include Spinocerebellar Ataxia 10 and Spinocerebellar Ataxia 4. Among its related pathways are Spinocerebellar ataxia and Akt Signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding and binding.
UniProtKB/Swiss-Prot Summary for ATXN10 Gene
-
Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis.
Additional gene information for ATXN10 Gene
- HGNC(10549)
- Entrez Gene(25814)
- Ensembl(ENSG00000130638)
- OMIM(611150)
- UniProtKB(Q9UBB4)
- Open Targets Platform(ENSG00000130638)
- Monarch Initiative
- Search for ATXN10 at DataMed
- Search for ATXN10 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATXN10 Gene
Genomics for ATXN10 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for ATXN10 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 ATXN10 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATXN10
- Top Transcription factor binding sites by QIAGEN in the ATXN10 gene promoter:
-
- aMEF-2
- AML1a
- Bach1
- CUTL1
- FOXL1
- MEF-2A
- Nkx5-1
- TBP
Genomic Locations for ATXN10 Gene
Genomic Locations for ATXN10 Gene
- chr22:45,671,798-45,845,307
- (GRCh38/hg38)
- Size:
- 173,510 bases
- Orientation:
- Plus strand
- chr22:46,067,678-46,241,187
- (GRCh37/hg19)
- Size:
- 173,510 bases
- Orientation:
- Plus strand
Genomic View for ATXN10 Gene
Genes around ATXN10 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 22q13.31 by HGNC
- 22q13.31 by Entrez Gene
- 22q13.31 by Ensembl
ATXN10 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 ATXN10 Gene
Proteins for ATXN10 Gene
-
Protein details for ATXN10 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UBB4-ATX10_HUMAN
- Recommended name:
- Ataxin-10
- Protein Accession:
- Q9UBB4
- A6NLC4
- B4DG05
- O14998
- O15009
- Q6I9X4
Protein attributes for ATXN10 Gene
- Size:
- 475 amino acids
- Molecular mass:
- 53489 Da
- Quaternary structure:
-
- Homooligomer (By similarity). Interacts with OGT (By similarity). Interacts with GNB2. Interacts with IQCB1.
Protein Expression for ATXN10 Gene
Post-translational modifications for ATXN10 Gene
Other Protein References for ATXN10 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- G Biosciences Immunotag™ ATXN10 Antibody
-
Custom Antibody ServicesOriGene Antibodies for ATXN10
- Novus Biologicals Antibodies for ATXN10
-
Abcam antibodies for ATXN10
- Invitrogen Antibodies for ATXN10 (AFLGC-ATXN10)
-
Biorbyt antibodies for ATXN10
-
Boster Bio Antibodies for ATXN10
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATXN10
- Sino Biological Antibodies for ATXN10
Protein Products
-
OriGene Purified Proteins for ATXN10
- Search Origene for MassSpec and Protein Over-expression Lysates for ATXN10
- Origene Custom Protein Services for ATXN10
-
Signalway Proteins for ATXN10
-
Abcam proteins for ATXN10
Assay Products
- G Biosciences Immunotag™ Ataxin-10 ELISA Kit
- antibodies-online: Show 14 available Ataxin 10 Elisa Kits ranked by validation data
- Compare Top Ataxin 10 Elisa Kits
-
Quality Products:
-
Signalway ELISA kits for ATXN10
No data available for DME Specific Peptides for ATXN10 Gene
Domains & Families for ATXN10 Gene
Gene Families for ATXN10 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for ATXN10 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for ATXN10 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ54600, highly similar to Ataxin-10 (A6NLC4_HUMAN)
- Spinocerebellar ataxia type 10 protein (ATX10_HUMAN)
- Ataxin 10 (B1AHE4_HUMAN)
- Ataxin 10 (B1AHE5_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9UBB4- Family:
-
- Belongs to the ataxin-10 family.
Function for ATXN10 Gene
Molecular function for ATXN10 Gene
- UniProtKB/Swiss-Prot Function:
- Necessary for the survival of cerebellar neurons. Induces neuritogenesis by activating the Ras-MAP kinase pathway. May play a role in the maintenance of a critical intracellular glycosylation level and homeostasis.
Phenotypes From GWAS Catalog for ATXN10 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 16498633 |
| GO:0019899 | enzyme binding | IEA | -- |
| GO:0042802 | identical protein binding | IEA | -- |
Phenotypes for ATXN10 Gene
- MGI mutant phenotypes for ATXN10:
- inferred from 3 alleles
- GenomeRNAi human phenotypes for ATXN10:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Decreased viability of wild-type and TP53 knockout cells
- Increased shRNA abundance (Z-score > 2)
- Decreased NF-kappaB reporter expression
- Increased ionizing radiation sensitivity
- Upregulation of RLR pathway after Sendai virus (SeV) infection
- Decreased Salmonella proliferation
- Decreased shRNA abundance (Z-score < -2)
- Decreased IL-8 secretion
- Decreased viability in ovarian lineage
- Increased G2M DNA content
Animal Models for ATXN10 Gene
- MGI Knock Outs for ATXN10:
-
- Atxn10 Atxn10<tm1b(KOMP)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATXN10 - Select products 50% OFF >
- * ATXN10 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ATXN10
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATXN10
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATXN10
miRNA for ATXN10 Gene
- miRTarBase miRNAs that target ATXN10
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATXN10
- Browse OriGene Inhibitory RNA Products For ATXN10
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN10
Clone Products
- Applied Biological Materials (abm): Clones for ATXN10 - Select products 50% OFF >
- * ATXN10 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ATXN10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATXN10
Cell Line Products
-
Horizon Cell Lines for ATXN10
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ATXN10 Gene
Localization for ATXN10 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ATXN10 Gene
- Cytoplasm, perinuclear region.
| Compartment | Confidence |
|---|---|
| cytosol | 5 |
| plasma membrane | 4 |
| extracellular | 4 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytoskeleton | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
| golgi apparatus | 1 |
- Cytosol (3)
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005615 | extracellular space | HDA | 23580065 |
| GO:0005737 | cytoplasm | IEA,IDA | 15201271 |
| GO:0005829 | cytosol | IDA | -- |
| GO:0005886 | plasma membrane | IDA | -- |
| GO:0016020 | membrane | HDA | 19946888 |
Pathways & Interactions for ATXN10 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Spinocerebellar ataxia | ||
| 2 | Akt Signaling |
Akt Signaling
.60
|
|
| 3 | Chks in Checkpoint Regulation |
Parkinson's Disease Pathway
.30
|
|
Pathways by source for ATXN10 Gene
1 KEGG pathway for ATXN10 Gene
2 Qiagen pathways for ATXN10 Gene
- Akt Signaling
- Parkinson's Disease Pathway
Interacting Proteins for ATXN10 Gene
GPS-Prot Interaction Network for ATXN10
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0007399 | nervous system development | IMP | 16385455 |
| GO:0031175 | neuron projection development | IDA | 16498633 |
| GO:0060271 | cilium assembly | IEA | -- |
Transcripts for ATXN10 Gene
mRNA/cDNA for ATXN10 Gene
- 2 REFSEQ mRNAs :
- 14 NCBI additional mRNA sequence :
- 12 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000252934 3294 nts (view in UCSC)
- ENST00000498009 873 nts (view in UCSC)
- ENST00000470722 391 nts (view in UCSC)
- ENST00000476998 482 nts (view in UCSC)
- ENST00000483549 778 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for ATXN10 - Select products 50% OFF >
- * ATXN10 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for ATXN10
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATXN10
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATXN10
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATXN10
- Browse OriGene Inhibitory RNA Products For ATXN10
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATXN10
Clone Products
- Applied Biological Materials (abm): Clones for ATXN10 - Select products 50% OFF >
- * ATXN10 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for ATXN10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATXN10
| ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11a | · | 11b | ^ | 12a | · | 12b | ^ | 13a | · | 13b | ^ | 14 | ^ | 15a | · | 15b | ^ | 16 | ^ | 17 | ^ | 18a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||||
| SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP7: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP9: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - |
| ExUns: | 18b | · | 18c | · | 18d |
|---|---|---|---|---|---|
| SP1: | |||||
| SP2: | |||||
| SP3: | |||||
| SP4: | |||||
| SP5: | |||||
| SP6: | |||||
| SP7: | |||||
| SP8: | |||||
| SP9: | |||||
| SP10: |
Relevant External Links for ATXN10 Gene
- GeneLoc Exon Structure for
- ATXN10
Expression for ATXN10 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Gonad (Reproductive System)
- Primordial Germ Cells Primitive Gonad
- Brain (Nervous System)
- Bone (Muscoskeletal System)
-
Uterus (Reproductive System)
-
Colon (Gastrointestinal Tract)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Kidney (Urinary System)
-
Testis (Reproductive System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
-
Liver (Hepatobiliary System)
-
Pancreas (Endocrine System)
-
Ovary (Reproductive System)
This gene is overexpressed in Bone (46.4).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ATXN10 Gene
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATXN10
SOURCE GeneReport for Unigene cluster for ATXN10 Gene:
Hs.475125mRNA Expression by UniProt/SwissProt for ATXN10 Gene:
Q9UBB4-ATX10_HUMAN
Tissue specificity:
Expressed in the central nervous system.
Evidence on tissue expression from TISSUES for ATXN10 Gene
- Nervous system(5)
- Adrenal gland(4.5)
- Liver(4.5)
- Muscle(3)
- Heart(2.8)
- Skin(2.8)
- Eye(2.7)
- Blood(2.7)
- Kidney(2.6)
- Lung(2.6)
- Thyroid gland(2.4)
- Pancreas(2)
- Intestine(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for ATXN10 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- digestive
- nervous
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- eye
- head
- mouth
- pharynx
Thorax:
- esophagus
Abdomen:
- stomach
Pelvis:
- prostate
- urethra
- urinary bladder
Limb:
- lower limb
- upper limb
General:
- peripheral nerve
- peripheral nervous system
- spinal cord
Primer Products
-
OriGene qPCR primer pairs for ATXN10
-
OriGene qPCR primer pairs and template standards for ATXN10
Gene Expression Assay Products
No data available for mRNA differential expression in normal tissues for ATXN10 Gene
Orthologs for ATXN10 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ATXN10 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ATXN10 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ATXN10 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Atxn10 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Atxn10 30 17 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | ATXN10 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | ATXN10 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | ATXN10 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | ATXN10 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atxn10 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.6373 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | atxn10 30 31 |
|
OneToOne | |
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CTR86 31 33 |
|
OneToOne | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.6792 31 |
|
OneToOne |
- Species where no ortholog for ATXN10 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)
- 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 ATXN10 Gene
- ENSEMBL:
- Gene Tree for ATXN10 (if available)
- TreeFam:
- Gene Tree for ATXN10 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for ATXN10: view image
Paralogs for ATXN10 Gene
(1) SIMAP similar genes for ATXN10 Gene using alignment to 4 proteins:
- ATX10_HUMAN
- B1AHE3_HUMAN
- B1AHE4_HUMAN
- H0Y7N2_HUMAN
No data available for Paralogs for ATXN10 Gene
Variants for ATXN10 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATXN10 Gene
| SNP ID | Clinical significance and condition | Chr 22 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 39007 | Pathogenic: Spinocerebellar ataxia type 10 | 45,795,354(+) | G/GATTCTATTCTATT | INTRON_VARIANT | |
| rs376717467 | Uncertain Significance: not provided | 45,738,744(+) | C/T | MISSENSE_VARIANT | |
| rs61733598 | Likely Benign: not specified | 45,693,008(+) | G/A | SYNONYMOUS_VARIANT | |
| rs772813026 | Uncertain Significance: not provided | 45,738,783(+) | A/AT | FRAMESHIFT_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv2469n106 | OTHER | inversion | 24896259 |
| dgv4588n100 | CNV | gain | 25217958 |
| dgv73n68 | CNV | gain | 17160897 |
| esv2724410 | CNV | deletion | 23290073 |
| esv3568449 | CNV | loss | 25503493 |
| esv3575493 | CNV | gain | 25503493 |
| nsv1058557 | CNV | gain | 25217958 |
| nsv1059671 | CNV | gain | 25217958 |
| nsv1060261 | CNV | loss | 25217958 |
| nsv1064179 | CNV | loss | 25217958 |
| nsv1066204 | CNV | gain | 25217958 |
| nsv1152661 | OTHER | inversion | 26484159 |
| nsv1160778 | CNV | duplication | 26073780 |
| nsv1160779 | CNV | duplication | 26073780 |
| nsv472263 | CNV | novel sequence insertion | 20440878 |
| nsv477251 | CNV | novel sequence insertion | 20440878 |
| nsv527209 | CNV | loss | 19592680 |
| nsv589130 | CNV | loss | 21841781 |
| nsv589131 | CNV | gain | 21841781 |
Residual Variation Intolerance Score:
28.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.21;
24.37% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for ATXN10 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATXN10 Gene
Disorders for ATXN10 Gene
(31) MalaCards diseases for ATXN10 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| spinocerebellar ataxia 10 |
|
|
| spinocerebellar ataxia 4 |
|
|
| hereditary ataxia |
|
|
| autosomal dominant cerebellar ataxia |
|
|
| far eastern spotted fever |
|
|
Search ATXN10 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
ATX10_HUMAN- Spinocerebellar ataxia 10 (SCA10) [MIM:603516]: 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. SCA10 is an autosomal dominant cerebellar ataxia (ADCA). {ECO:0000269 PubMed:11017075}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Note=Defects in ATXN1 may be a cause of nephronophthisis a chronic tubulo-interstitial nephropathy that leads to anemia, polyuria, polydipsia, isosthenuria and death in uremia. {ECO:0000269 PubMed:21565611}.
Additional Disease Information for ATXN10
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for ATXN10 Gene
Publications for ATXN10 Gene
- Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit. (PMID: 16498633) Waragai M … Ashizawa T (Journal of neuroscience research 2006) 3 4 23
- Ataxin-10, the spinocerebellar ataxia type 10 neurodegenerative disorder protein, is essential for survival of cerebellar neurons. (PMID: 15201271) März P … Ozbek S (The Journal of biological chemistry 2004) 3 4 23
- Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. (PMID: 11017075) Matsuura T … Ashizawa T (Nature genetics 2000) 3 4 23
- Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways. (PMID: 21565611) Sang L … Jackson PK (Cell 2011) 3 4
- Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10. (PMID: 19936807) Keren B … Héron D (Neurogenetics 2010) 3 23
ExternalLinks
Products for ATXN10 Gene
- Custom Antibody ServicesOriGene Antibodies for ATXN10
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- antibodies-online: Show 17 available Ataxin 10 Antibodies ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for ATXN10
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Sources for ATXN10 Gene
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