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Human Gene Set: KEGG_MEDICUS_VARIANT_MUTATION_CAUSED
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| Standard name | KEGG_MEDICUS_VARIANT_MUTATION_CAUSED_ABBERANT_ATXN2_3_TO_MGLUR5_CA2_APOPTOTIC_PATHWAY |
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| Systematic name | M47658 |
| Brief description | Pathway Definition from KEGG: Glutamate -> GRM1 -> GNAQ -> PLCB -> IP3 -> (ITPR1+(ATXN2*,ATXN3*)) -> Ca2+ -- MCU -> Ca2+(mito) -- MPTP -> CYCS |
| Full description or abstract | Mutation-caused abberant ATXN2/3 to mGluR5-Ca2+ -apoptotic pathway. Pathway ID: N00957. Pathway type: Variant. Pathway class: nt06462 Spinocerebellar ataxia. |
| Collection | C2: Curated CP: Canonical Pathways CP:KEGG_MEDICUS: KEGG Medicus Pathways |
| Source publication | |
| Exact source | N00957 |
| Related gene sets | |
| External links | https://www.kegg.jp/entry/N00957 |
| Filtered by similarity ? | |
| Source species | Homo sapiens |
| Contributed by | KEGG (Kyoto Encyclopedia of Genes and Genomes) |
| Source platform or identifier namespace |
Human_NCBI_Gene_ID |
| Dataset references | |
| Download gene set | format: grp | gmt | xml | json | TSV metadata |
| Compute overlaps ? |
(show collections to investigate for overlap with this gene set)
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| Compendia expression profiles ? |
NG-CHM interactive heatmaps (Please note that clustering takes a few seconds) Legacy heatmaps (PNG) |
| Advanced query | Further investigate these 18 genes |
| Gene families ? | Categorize these 18 genes by gene family |
| Show members |
(show 18 source identifiers mapped to 18 genes)
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| Version history | 2023.2.Hs: First Introduced. |
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