Gene Gene information from NCBI Gene database.
Entrez ID 54476
Gene name Ring finger protein 216
Gene symbol RNF216
Synonyms (NCBI Gene)
CAHHTRIAD3U7I1UBCE7IP1ZIN
Chromosome 7
Chromosome location 7p22.1
Summary 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
SNPs SNP information provided by dbSNP.
9
SNP ID Visualize variation Clinical significance Consequence
rs141050143 G>A Conflicting-interpretations-of-pathogenicity 5 prime UTR variant, coding sequence variant, missense variant
rs148642312 T>A,C Pathogenic Coding sequence variant, missense variant
rs373785974 G>A,C Pathogenic 5 prime UTR variant, missense variant, coding sequence variant, stop gained
rs387907368 G>A Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
rs387907369 A>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
580
miRTarBase ID miRNA Experiments Reference
MIRT044679 hsa-miR-320a CLASH 23622248
MIRT037895 hsa-miR-455-3p CLASH 23622248
MIRT706668 hsa-miR-3155a HITS-CLIP 21572407
MIRT706667 hsa-miR-3155b HITS-CLIP 21572407
MIRT706666 hsa-miR-484 HITS-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12600646, 15367624, 19893624, 32296183
GO:0005634 Component Nucleus IDA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609948 21698 ENSG00000011275
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NWF9
Protein name E3 ubiquitin-protein ligase RNF216 (EC 2.3.2.27) (RING finger protein 216) (RING-type E3 ubiquitin transferase RNF216) (Triad domain-containing protein 3) (Ubiquitin-conjugating enzyme 7-interacting protein 1) (Zinc finger protein inhibiting NF-kappa-B)
Protein function [Isoform 1]: E3 ubiquitin ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their ubiquitination (PubMed:34998453). Plays a role in the regulation of antiviral responses
PDB 7M4M , 7M4N , 7M4O , 8EB0
Family and domains
Tissue specificity TISSUE SPECIFICITY: Ubiquitous, with the highest levels of expression in testis and peripheral blood leukocytes.
Sequence
MEEGNNNEEVIHLNNFHCHRGQEWINLRDGPITISDSSDEERIPMLVTPAPQQHEEEDLD
DDVILTEDDSEDDYGEFLDLGPPGISEFTKPSGQTEREPKPGPSHNQAANDIVNPRSEQK
VIILEEGSLLYTESDPLETQNQSSEDSETELLSNLGESAALADDQAIEEDCWLDHPYFQS
LNQQPREITNQVVPQERQPEAELGRLLFQHEFPGPAFPRPEPQQGGISGPSSPQPAHPLG
EFEDQQLASDDEEPGPAFPMQESQEPNLENIWGQEAAEVDQELVELLVKETEARFPDVAN
GFIEEIIHFKNYYDLNVLCNFLLENPDYPKREDRIIINPSSSLLASQDETKLPKIDFFDY
SKLTPLDQRCFIQAADLLMADFKVLSSQDIKWALHELKGHYAITRKALSDAIKKWQELSP
ETSGKRKKRKQMNQYSYIDFKFEQGDIKIEKRMFFLENKRRHCRSYDRRALLPAVQQEQE
FYEQKIKEMAEHEDFLLALQMNEEQYQKDGQLIECRCCYGEFPFEELTQCADAHLFCKEC
LIRYAQEAVFGSGKLELSCMEGSCTCSFPTSELEKVLPQTILYKYYERKAEEEVAAAYAD
ELVRCPSCSFPALLDSDVKRFSCPNPHCRKETCRKCQGLWKEHNGLTCEELAEKDDIKYR
TSIEEKMTAARIRKCHKCGTGLIKSEGCNRMSCRCGAQMCYLCRVSINGYDHFCQHPRSP
GAPCQECSRCSLWTDPTEDDEKLIEEIQKEAEEEQKRKNGENTFKRIGPPLEKPVEKVQR
VEALPRPVPQNLPQPQMPPYAFAHPPFPLPPVRPVFNNFPLNMGPIPAPYVPPLPNVRVN
YDFGPIHMPLEHNLPMHFGPQPRHRF
Sequence length 866
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Negative regulators of DDX58/IFIH1 signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
54
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cerebellar ataxia-hypogonadism syndrome Likely pathogenic; Pathogenic rs2128629356, rs200769983, rs374351343, rs1335215379, rs2534249263, rs794728000, rs373785974, rs1419567670, rs1562451985, rs387907368, rs387907369, rs387907370, rs1186852853 RCV001647236
RCV001647237
RCV005257986
RCV001845028
RCV002468775
RCV000180793
RCV000180794
RCV003153225
RCV000714821
RCV000043627
RCV000043628
RCV000043629
RCV006449380
Hypogonadotropic hypogonadism 7 with or without anosmia Likely pathogenic rs730882248 RCV000162188
Leukodystrophy Likely pathogenic rs730882248 RCV000162188
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Familial cancer of breast Benign rs138122142 RCV005907481
Gastric cancer Benign rs548642903 RCV005926726
Malignant tumor of esophagus Uncertain significance rs200838092 RCV005928487
Ovarian cancer Likely benign rs374263582 RCV005932071
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 35820682
Anodontia Associate 37161390
Ataxia Associate 37161390
Autistic Disorder Associate 20414355
Breast Neoplasms Associate 26070530
Carcinogenesis Associate 24690483
Cerebellar Ataxia and Hypogonadotropic Hypogonadism Associate 32982993, 34998453, 37161390, 38377650
Cognition Disorders Associate 37161390
Colitis Ulcerative Stimulate 27037036
Demyelinating Diseases Associate 37161390