RNF217 Chromosome 6
Ring finger protein 217
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What This Gene Does
This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]
Gene Info
Gene Group
"Ring finger proteins|RBR E3 ubiquitin ligases"
Locus Type
gene with protein product
Location
6q22.31
Ensembl
ENSG00000146373
Associated Conditions (2)
Multiple sclerosis
susceptibility to
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS73580047 | Health Risk | risk factor | Multiple sclerosis, susceptibility to, Multiple sclerosis |