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
380500712024Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review.0
388534692024Ring finger protein 216 loss-of-function induces white matter hyperintensities by inhibiting oligodendroglia proliferation.0
380500712024Clinical and genetic spectrum of RNF216-related disorder: a new case and literature review.0
388534692024Ring finger protein 216 loss-of-function induces white matter hyperintensities by inhibiting oligodendroglia proliferation.0
374391482023RNF216 affects the stability of STAU2 in the hypothalamus.0
374391482023RNF216 affects the stability of STAU2 in the hypothalamus.0
349984532022Structural basis of K63-ubiquitin chain formation by the Gordon-Holmes syndrome RBR E3 ubiquitin ligase RNF216.11
350882402022Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome.2
349984532022Structural basis of K63-ubiquitin chain formation by the Gordon-Holmes syndrome RBR E3 ubiquitin ligase RNF216.11
350882402022Whole-Exome Sequencing Identified a Novel Mutation in RNF216 in a Family with Gordon Holmes Syndrome.2
337245542021RNF216 regulates meiosis and PKA stability in the testes.4
342473652021[Screening of interacting proteins of idiopathic gonadotropin-releasing hormone deficiency pathogenic gene RNF216].0
337245542021RNF216 regulates meiosis and PKA stability in the testes.4
342473652021[Screening of interacting proteins of idiopathic gonadotropin-releasing hormone deficiency pathogenic gene RNF216].0
313857132020Toll-like Receptor 8 Stability Is Regulated by Ring Finger 216 in Response to Circulating MicroRNAs.10

Citation

Dessen P

RNF216 (ring finger protein 216)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53038/gene-fusions-explorer/case-report-explorer/tumors-explorer/