ATXN8 (ataxin 8)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
724066
Gene name Gene Name - the full gene name approved by the HGNC.
Ataxin 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATXN8
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q21
Summary Summary of gene provided in NCBI Entrez Gene.
Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directi
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
GO ID Ontology Definition Evidence Reference
GO:0005634 Component Nucleus IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613289 32925 HGNC
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q156A1
Protein name Ataxin-8 (Protein 1C2)
Family and domains
Tissue specificity TISSUE SPECIFICITY: Specifically found in brains from SCA8 patients (at protein level). {ECO:0000269|PubMed:16804541}.
Sequence 
MQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQQ
QQQQQQQQQQQQQQQQQQQQ
Sequence length 80
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Cerebellar ataxia Progressive cerebellar ataxia rs28936415, rs199476133, rs540331226, rs797046006, rs863224069, rs138358708, rs1057519429, rs750959420, rs1568440440, rs1597846084, rs759460806, rs761486324, rs1240335250, rs1596489887
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Spinocerebellar ataxia SPINOCEREBELLAR ATAXIA 8, Spinocerebellar ataxia type 8 rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926
View all (203 more)		 10192387
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Show/Hide Text Mining Associations (10)
Associations from Text Mining
Disease Name Relationship Type References
Aphasia Broca Associate 12545428
Ataxia Associate 10712199, 34600502
Breast Neoplasms Associate 31173245
Cerebellar Ataxia Associate 12545428
Disease Associate 34372915
Frontotemporal Dementia Associate 37146135
Neuromuscular Diseases Associate 24269018
Parkinson Disease Secondary Associate 30788857
Spinocerebellar Ataxias Associate 12545428, 24040107, 26112709, 26374734, 29316893, 37482381
Spinocerebellar Degenerations Associate 26374734