Details for Gene ATXN2

GENE NAME ATXN2
CHROMOSOME 12
ENSEMBL ID ENSG00000204842
ENTREZ ID 6311
UNIPROT ACCESSION NUMBER Q99700
GO MOLECULAR FUNCTION RNA binding; protein C-terminus binding; protein binding; epidermal growth factor receptor binding
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa05014; hsa05017; hsa05022
12 combinations linked to ATXN2 OLI281; OLI784; OLI958; OLI278; OLI955; OLI275; OLI956; OLI786; OLI785; OLI624; OLI957; OLI578
8 variants linked to ATXN2 Copy Number Variant repeat on chromosome 12 repeating CAG at least 29 times and at most 33 times; Copy Number Variant repeat on chromosome 12 of the CAG in the gene ATXN2; Copy Number Variant repeat on chromosome 12 repeating CAG at least 29 times and at most 39 times; Copy Number Variant repeat on chromosome 12 repeating CAG at least 27 times and at most 32 times; Copy Number Variant repeat on chromosome 12 repeating CAG at least 32 times; Copy Number Variant repeat on chromosome 12 repeating CAG at least 28 times; Copy Number Variant repeat on chromosome 12 repeating CAG at least 30 times; Copy Number Variant repeat on chromosome 12 repeating CAG at least 31 times
2 diseases linked to ATXN2 Frontotemporal dementia; Amyotrophic lateral sclerosis
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