Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54476
Gene name Gene Name - the full gene name approved by the HGNC.
Ring finger protein 216
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RNF216
Synonyms (NCBI Gene) Gene synonyms aliases
CAHH, TRIAD3, U7I1, UBCE7IP1, ZIN
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 19893624, 32296183
GO:0005634 Component Nucleus IDA
GO:0005654 Component Nucleoplasm IDA
GO:0005829 Component Cytosol IDA
GO:0005829 Component Cytosol TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609948 21698 ENSG00000011275
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cerebellar ataxia-hypogonadism syndrome Cerebellar ataxia-hypogonadism syndrome rs387907368, rs387907369, rs387907370, rs794728000, rs373785974, rs1562451985
Hypogonadotropic hypogonadism Hypogonadotropic hypogonadism, Idiopathic hypogonadotropic hypogonadism rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139
Leukodystrophy Leukodystrophy rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604
View all (6 more)
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Unknown
Disease term Disease name Evidence References Source
Psoriasis Psoriasis GWAS
Associations from Text Mining
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