• Gene id: 54476

Gene Summary

• Gene Symbol: RNF216   Gene   UCSC   Ensembl
• Aliases: CAHH, TRIAD3, U7I1, UBCE7IP1, ZIN
• Gene name: ring finger protein 216
• Alternate names: E3 ubiquitin-protein ligase RNF216, 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,
• Gene location: 7p22.1 (5781720: 5620046)     Exons: 20     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 617163

Protein Summary

• Protein general information: Q9NWF9  
  • 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)
  • Length: 866  
  • Mass: 99406
  • Tissue specificity: Ubiquitous, with the highest levels of expression in testis and peripheral blood leukocytes.
• Sequence:

  MEEGNNNEEVIHLNNFHCHRGQEWINLRDGPITISDSSDEERIPMLVTPAPQQHEEEDLDDDVILTEDDSEDDYG
  EFLDLGPPGISEFTKPSGQTEREPKPGPSHNQAANDIVNPRSEQKVIILEEGSLLYTESDPLETQNQSSEDSETE
  LLSNLGESAALADDQAIEEDCWLDHPYFQSLNQQPREITNQVVPQERQPEAELGRLLFQHEFPGPAFPRPEPQQG
  GISGPSSPQPAHPLGEFEDQQLASDDEEPGPAFPMQESQEPNLENIWGQEAAEVDQELVELLVKETEARFPDVAN
  GFIEEIIHFKNYYDLNVLCNFLLENPDYPKREDRIIINPSSSLLASQDETKLPKIDFFDYSKLTPLDQRCFIQAA
  DLLMADFKVLSSQDIKWALHELKGHYAITRKALSDAIKKWQELSPETSGKRKKRKQMNQYSYIDFKFEQGDIKIE
  KRMFFLENKRRHCRSYDRRALLPAVQQEQEFYEQKIKEMAEHEDFLLALQMNEEQYQKDGQLIECRCCYGEFPFE
  ELTQCADAHLFCKECLIRYAQEAVFGSGKLELSCMEGSCTCSFPTSELEKVLPQTILYKYYERKAEEEVAAAYAD
  ELVRCPSCSFPALLDSDVKRFSCPNPHCRKETCRKCQGLWKEHNGLTCEELAEKDDIKYRTSIEEKMTAARIRKC
  HKCGTGLIKSEGCNRMSCRCGAQMCYLCRVSINGYDHFCQHPRSPGAPCQECSRCSLWTDPTEDDEKLIEEIQKE
  AEEEQKRKNGENTFKRIGPPLEKPVEKVQRVEALPRPVPQNLPQPQMPPYAFAHPPFPLPPVRPVFNNFPLNMGP
  IPAPYVPPLPNVRVNYDFGPIHMPLEHNLPMHFGPQPRHRF

• Structural information:
  • Interpro: IPR002867  IPR013083  
  • Prosite: PS51873
  • STRING: ENSP00000374552
• Other Databases: GeneCards:  RNF216  Malacards:  RNF216

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070936	protein K48-linked ubiquitination	IDA	biological process
GO:0032648	regulation of interferon-beta production	IDA	biological process
GO:0050691	regulation of defense response to virus by host	IDA	biological process
GO:0043161	proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0061630	ubiquitin protein ligase activity	EXP	molecular function
GO:0032480	negative regulation of type I interferon production	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0099546	protein catabolic process, modulating synaptic transmission	IEA	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0098685	Schaffer collateral - CA1 synapse	IEA	cellular component
GO:0098843	postsynaptic endocytic zone	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0016567	protein ubiquitination	IEA	biological process

Diseases

Associated diseases	References
Gordon Holmes syndrome	KEGG:H02144
Gordon Holmes syndrome	KEGG:H02144
Cryptorchidism	MIK: 28606200
Spermatogenesis defects, Male infertility	MIK: 30649198

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
30649198	Spermatogenesis defects, Male infertility				Male infertility