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RNF216 (ring finger protein 216)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
54476
Gene nameGene Name - the full gene name approved by the HGNC.
Ring finger protein 216
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
RNF216
SynonymsGene synonyms aliases
CAHH, TRIAD3, U7I1, UBCE7IP1, ZIN
ChromosomeChromosome number
7
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7p22.1
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
Sequence
MEEGNNNEEVIHLNNFHCHRGQEWINLRDGPITISDSSDEERIPMLVTPAPQQHEEEDLD
DDVILTEDDSEDDYGEFLDLGPPGISEFTKPSGQTEREPKPGPSHNQAANDIVNPRSEQK
VIILEEGSLLYTESDPLETQNQSSEDSETELLSNLGESAALADDQAIEEDCWLDHPYFQS
LNQQPREITNQVVPQERQPEAELGRLLFQHEFPGPAFPRPEPQQGGISGPSSPQPAHPLG
EFEDQQLASDDEEPGPAFPMQESQEPNLENIWGQEAAEVDQELVELLVKETEARFPDVAN
GFIEEIIHFKNYYDLNVLCNFLLENPDYPKREDRIIINPSSSLLASQDETKLPKIDFFDY
SKLTPLDQRCFIQAADLLMADFKVLSSQDIKWALHELKGHYAITRKALSDAIKKWQELSP
ETSGKRKKRKQMNQYSYIDFKFEQGDIKIEKRMFFLENKRRHCRSYDRRALLPAVQQEQE
FYEQKIKEMAEHEDFLLALQMNEEQYQKDGQLIECRCCYGEFPFEELTQCADAHLFCKEC
LIRYAQEAVFGSGKLELSCMEGSCTCSFPTSELEKVLPQTILYKYYERKAEEEVAAAYAD
ELVRCPSCSFPALLDSDVKRFSCPNPHCRKETCRKCQGLWKEHNGLTCEELAEKDDIKYR
TSIEEKMTAARIRKCHKCGTGLIKSEGCNRMSCRCGAQMCYLCRVSINGYDHFCQHPRSP
GAPCQECSRCSLWTDPTEDDEKLIEEIQKEAEEEQKRKNGENTFKRIGPPLEKPVEKVQR
VEALPRPVPQNLPQPQMPPYAFAHPPFPLPPVRPVFNNFPLNMGPIPAPYVPPLPNVRVN
YDFGPIHMPLEHNLPMHFGPQPRHRF
Sequence length 866
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Negative regulators of DDX58/IFIH1 signaling
Associated diseases
Causal
Disease name Disease term 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, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417
Nystagmus Nystagmus rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Unknown
Disease name Disease term dbSNP ID References
Accessory nipple Accessory nipple
Brachycephaly Brachycephaly
Camptodactyly of fingers Clinodactyly of the 5th finger
Cerebellar atrophy Cerebellar atrophy

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