Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
25814
Gene name Gene Name - the full gene name approved by the HGNC.
Ataxin 10
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ATXN10
Synonyms (NCBI Gene) Gene synonyms aliases
ATX10, E46L, HUMEEP, SCA10
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SCA10
Chromosome Chromosome number
22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
22q13.31
Summary Summary of gene provided in NCBI Entrez 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 8
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020830 hsa-miR-155-5p Proteomics 18668040
MIRT028592 hsa-miR-30a-5p Proteomics 18668040
MIRT046248 hsa-miR-23b-3p CLASH 23622248
MIRT158763 hsa-miR-21-5p HITS-CLIP 22473208
MIRT158763 hsa-miR-21-5p HITS-CLIP 22473208
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16498633, 21565611, 26496610, 32814053
GO:0005615 Component Extracellular space HDA 23580065
GO:0005737 Component Cytoplasm IDA 15201271
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611150 10549 ENSG00000130638
Protein
UniProt ID Q9UBB4
Protein name Ataxin-10 (Brain protein E46 homolog) (Spinocerebellar ataxia type 10 protein)
Protein function May play a role in the regulation of cytokinesis (PubMed:21857149, PubMed:25666058). May play a role in signaling by stimulating protein glycosylation. Induces neuritogenesis by activating the Ras-MAP kinase pathway and is necessary for the surv
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09759 Atx10homo_assoc 370 467 Spinocerebellar ataxia type 10 protein domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in the central nervous system. {ECO:0000269|PubMed:15201271}.
Sequence
MAAPRPPPARLSGVMVPAPIQDLEALRALTALFKEQRNRETAPRTIFQRVLDILKKSSHA
VELACRDPSQVENLASSLQLITECFRCLRNACIECSVNQNSIRNLDTIGVAVDLILLFRE
LRVEQESLLTAFRCGLQFLGNIASRNEDSQSIVWVHAFPELFLSCLNHPDKKIVAYSSMI
LFTSLNHERMKELEENLNIAIDVIDAYQKHPESEWPFLIITDLFLKSPELVQAMFPKLNN
QERVTLLDLMIAKITSDEPLTKDDIPVFLRHAELIASTFVDQCKTVLKLASEEPPDDEEA
LATIRLLDVLCEMTVNTELLGYLQVFPGLLERVIDLLRVIHVAGKETTNIFSNCGCVRAE
GDISNVANGFKSHLIRLIGNLCYKNKDNQDKVNELDGIPLILDNCNISDSNPFLTQWVIY
AIRNLTEDNSQNQDLIAKMEEQGLADASLLKKVGFEVEKKGEKLILK
STRDTPKP
Sequence length 475
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Spinocerebellar ataxia  
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
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
Epilepsy Epilepsy, Partial, Motor rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670
View all (165 more)
Nephronophthisis Nephronophthisis rs62635288, rs267607116, rs201893408, rs267607117, rs202149403, rs118204032, rs121918244, rs750962965, rs1474058708, rs119456959, rs119456960, rs119456961, rs119456962, rs267606916, rs137852856
View all (190 more)
21565611
Nystagmus Nystagmus, Nystagmus, End-Position rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Diabetes Diabetes GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Apraxia oculomotor Cogan type Associate 25630585
Ataxia Associate 9973298
Atherosclerosis Associate 34858081
Colorectal Neoplasms Associate 35247911
Communicable Diseases Associate 31061469
Epilepsy Associate 24935856
Friedreich Ataxia Associate 15096564
Glioma Associate 40214613
Immunoglobulin G4 Related Disease Stimulate 32745980
Inflammation Inhibit 34858081