RNF216 (ring finger protein 216)

2012-11-01  

Identity

HGNC
LOCATION
7p22.1
LOCUSID
ALIAS
CAHH,TRIAD3,U7I1,UBCE7IP1,ZIN
FUSION GENES

Other Information

Locus ID:

NCBI: 54476
MIM: 609948
HGNC: 21698
Ensembl: ENSG00000011275

Variants:

dbSNP: 54476
ClinVar: 54476
TCGA: ENSG00000011275
COSMIC: RNF216

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000011275ENST00000389900F8W6D1
ENSG00000011275ENST00000389902Q9NWF9
ENSG00000011275ENST00000411812F8WDI8
ENSG00000011275ENST00000416985C9JIV3
ENSG00000011275ENST00000425013Q9NWF9

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
RIG-I/MDA5 mediated induction of IFN-alpha/beta pathwaysREACTOMER-HSA-168928
Negative regulators of RIG-I/MDA5 signalingREACTOMER-HSA-936440

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
198936242009The E3 ubiquitin ligase Triad3A negatively regulates the RIG-I/MAVS signaling pathway by targeting TRAF3 for degradation.74
236565882013Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.72
249457732014Triad3A regulates synaptic strength by ubiquitination of Arc.35
169687062006Triad3A regulates ubiquitination and proteasomal degradation of RIP1 following disruption of Hsp90 binding.27
258410282015RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder.16
118542712002A novel zinc finger protein interacts with receptor-interacting protein (RIP) and inhibits tumor necrosis factor (TNF)- and IL1-induced NF-kappa B activation.14
212703972011Ubiquitylation of an internalized killer cell Ig-like receptor by Triad3A disrupts sustained NF-κB signaling.14
279957692017TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation.13
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

RNF216 (ring finger protein 216)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53038/rnf216