RNF217 Chromosome 6

Ring finger protein 217
1 variant 1 Health Risk

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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
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