RNF216 (ring finger protein 216)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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54476 |
Gene nameGene Name - the full gene name approved by the HGNC.
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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.
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RNF216 |
SynonymsGene synonyms aliases
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CAHH, TRIAD3, U7I1, UBCE7IP1, ZIN |
ChromosomeChromosome number
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7 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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7p22.1 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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.
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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 |
rs387907370 |
CT>- |
Pathogenic |
5 prime UTR variant, frameshift variant, coding sequence variant |
rs794728000 |
C>T |
Pathogenic |
Coding sequence variant, missense variant |
rs1562451985 |
C>G |
Pathogenic |
Splice acceptor variant, intron variant |
rs1584549575 |
C>- |
Pathogenic |
5 prime UTR variant, coding sequence variant, frameshift variant |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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
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Family and domains |
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Sequence |
MEEGNNNEEVIHLNNFHCHRGQEWINLRDGPITISDSSDEERIPMLVTPAPQQHEEEDLD DDVILTEDDSEDDYGEFLDLGPPGISEFTKPSGQTEREPKPGPSHNQAANDIVNPRSEQK VIILEEGSLLYTESDPLETQNQSSEDSETELLSNLGESAALADDQAIEEDCWLDHPYFQS LNQQPREITNQVVPQERQPEAELGRLLFQHEFPGPAFPRPEPQQGGISGPSSPQPAHPLG EFEDQQLASDDEEPGPAFPMQESQEPNLENIWGQEAAEVDQELVELLVKETEARFPDVAN GFIEEIIHFKNYYDLNVLCNFLLENPDYPKREDRIIINPSSSLLASQDETKLPKIDFFDY SKLTPLDQRCFIQAADLLMADFKVLSSQDIKWALHELKGHYAITRKALSDAIKKWQELSP ETSGKRKKRKQMNQYSYIDFKFEQGDIKIEKRMFFLENKRRHCRSYDRRALLPAVQQEQE FYEQKIKEMAEHEDFLLALQMNEEQYQKDGQLIECRCCYGEFPFEELTQCADAHLFCKEC LIRYAQEAVFGSGKLELSCMEGSCTCSFPTSELEKVLPQTILYKYYERKAEEEVAAAYAD ELVRCPSCSFPALLDSDVKRFSCPNPHCRKETCRKCQGLWKEHNGLTCEELAEKDDIKYR TSIEEKMTAARIRKCHKCGTGLIKSEGCNRMSCRCGAQMCYLCRVSINGYDHFCQHPRSP GAPCQECSRCSLWTDPTEDDEKLIEEIQKEAEEEQKRKNGENTFKRIGPPLEKPVEKVQR VEALPRPVPQNLPQPQMPPYAFAHPPFPLPPVRPVFNNFPLNMGPIPAPYVPPLPNVRVN YDFGPIHMPLEHNLPMHFGPQPRHRF
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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.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Cerebellar ataxia-hypogonadism syndrome |
Cerebellar ataxia-hypogonadism syndrome |
rs387907368, rs387907369, rs387907370, rs794728000, rs373785974, rs1562451985 |
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Hypogonadotropic hypogonadism |
Hypogonadotropic hypogonadism, Idiopathic hypogonadotropic hypogonadism |
rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139 |
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Leukodystrophy |
Leukodystrophy |
rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417 |
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Nystagmus |
Nystagmus |
rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896 |
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Optic atrophy |
Optic Atrophy |
rs121434508, rs267607017, rs80356524, rs80356525, rs879255560, rs104893753, rs80356529, rs397515360, rs104893620, rs199476104, rs199476112, rs199476118, rs398124298, rs770066665, rs398124299, rs61750185, rs672601379, rs727504060, rs786204830, rs794727804, rs199946797, rs863224127, rs863224131, rs863224134, rs863224906, rs372054380, rs886037828, rs764791523, rs145639028, rs1057519312, rs1064794257, rs1064794656, rs1064797303, rs774265764, rs760337383, rs1553784985, rs72653786, rs1555229948, rs1555119216, rs761743852, rs1553785338, rs1020764190, rs782581701, rs1560408865, rs761460379, rs773022324, rs782740998, rs1560327427, rs80356528, rs1734162973, rs1716524583, rs1057368575 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Accessory nipple |
Accessory nipple |
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Brachycephaly |
Brachycephaly |
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Camptodactyly of fingers |
Clinodactyly of the 5th finger |
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Cerebellar atrophy |
Cerebellar atrophy |
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Cerebral atrophy |
Cerebral atrophy |
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Chorioretinal dystrophy |
Chorioretinal dystrophy |
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Dementia |
Dementia |
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Dwarfism |
Dwarfism |
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Dysarthria |
Dysarthria |
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Gordon holmes syndrome |
Cerebellar Ataxia and Hypogonadotropic Hypogonadism |
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23656588, 24357685 |
Gynecomastia |
Gynecomastia |
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Hemiplegia/hemiparesis |
Hemiplegia/hemiparesis |
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Speech disorders |
Speech Disorders |
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