RNF216 Chromosome 7
Ring finger protein 216
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What This Gene Does
This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Ring finger proteins|RBR E3 ubiquitin ligases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
7p22.1
Ensembl
ENSG00000011275
Associated Conditions (3)
Cerebellar ataxia-hypogonadism syndrome
Leukodystrophy
Hypogonadotropic hypogonadism 7 with or without anosmia
Key Variants
RS147871230
Conflicting classifications of pathogenicity
Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
Health Risk
RS536794545
Conflicting classifications of pathogenicity
Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
Health Risk
RS1420326474
Likely pathogenic
Health Risk
RS200769983
Likely pathogenic
Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
Health Risk
RS2128629356
Likely pathogenic
Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
Health Risk
RS730882248
Likely pathogenic
Leukodystrophy, Hypogonadotropic hypogonadism 7 with or without anosmia, Leukodystrophy
Health Risk
RS1335215379
Pathogenic
Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
Health Risk
RS1419567670
Pathogenic
Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
Health Risk
RS1562451985
Pathogenic
Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome
Health Risk
RS1584549575
Pathogenic
Health Risk
RS1793398163
Pathogenic
Health Risk
RS2128632948
Pathogenic
Health Risk
All Variants (21)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147871230 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |
| RS536794545 | Health Risk | Conflicting classifications of pathogenicity | Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |
| RS1420326474 | Health Risk | Likely pathogenic | — |
| RS200769983 | Health Risk | Likely pathogenic | Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |
| RS2128629356 | Health Risk | Likely pathogenic | Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |
| RS730882248 | Health Risk | Likely pathogenic | Leukodystrophy, Hypogonadotropic hypogonadism 7 with or without anosmia, Leukodystrophy |
| RS1335215379 | Health Risk | Pathogenic | Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |
| RS1419567670 | Health Risk | Pathogenic | Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |
| RS1562451985 | Health Risk | Pathogenic | Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |
| RS1584549575 | Health Risk | Pathogenic | — |
| RS1793398163 | Health Risk | Pathogenic | — |
| RS2128632948 | Health Risk | Pathogenic | — |
| RS2534123200 | Health Risk | Pathogenic | — |
| RS2534249263 | Health Risk | Pathogenic | Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |
| RS373785974 | Health Risk | Pathogenic | Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |
| RS387907368 | Health Risk | Pathogenic | Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |
| RS387907369 | Health Risk | Pathogenic | Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |
| RS387907370 | Health Risk | Pathogenic | Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |
| RS794728000 | Health Risk | Pathogenic | Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |
| RS1186852853 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |
| RS374351343 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar ataxia-hypogonadism syndrome, Cerebellar ataxia-hypogonadism syndrome |