RNF216 - ring finger protein 216 Gene

Also Known as ZIN; CAHH; U7I1; TRIAD3; UBCE7IP1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 54476

About RNF216

Cytogenetic location: 7p22.1 Genomic coordinates (GRCh38): 7:5,620,047-5,781,663 (from NCBI)

This gene has 9 transcripts (splice variants), 195 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 16.3), lymph node (RPKM 10.2) and 25 other tissues.

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 inhibition of TNF- and IL1-induced NF-kappa B activation pathways. The encoded protein may also function as an E3 ubiquitin-protein Ligase which accepts ubiquitin from E2 ubiquitin-conjugating Enzymes and transfers it to substrates. Several alternatively spliced transcript variants have been described for this locus but the full-length natures of only some are known. [provided by RefSeq, Jul 2008]

RNF216 Products (3)

mRNA	Protein	Name
NM_001377156.1	NP_001364085.1	E3 ubiquitin-protein ligase RNF216 isoform b
NM_207111.4	NP_996994.1	E3 ubiquitin-protein ligase RNF216 isoform a
NM_207116.3	NP_996999.1	E3 ubiquitin-protein ligase RNF216 isoform b

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Références	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12600646	GOA
enables ubiquitin protein ligase activity	EXP EXP: Inferred from Experiment	19893624	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in proteasome-mediated ubiquitin-dependent protein catabolic process	IDA IDA: Inferred from direct assay	19893624	GOA
involved in protein K48-linked ubiquitination	IDA IDA: Inferred from direct assay	19893624	GOA
involved in regulation of defense response to virus by host	IDA IDA: Inferred from direct assay	19893624	GOA
involved in regulation of interferon-beta production	IDA IDA: Inferred from direct assay	19893624	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
E3 ubiquitin-protein ligase RNF216	RING-type E3 ubiquitin transferase RNF216

RNF216 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	RNF216	Q9NWF9	MTURN	Homo sapiens	Q8N3F0	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Gordon Holmes Syndrome	Cerebellar Ataxia And Hypogonadotropic Hypogonadism Lhrh Deficiency And Ataxia Cerebellar Ataxia-Hypogonadism Syndrome GDHS Cahh Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia Gordon-Holmes Syndrome Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia Cerebellar Ataxia - Hypogonadism Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism
Hypomyelinating Leukodystrophy	Hld Leukodystrophy, Hypomyelinating
Leukodystrophy	Leukodystrophies
Boucher-Neuhauser Syndrome	Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome BNHS Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, And Chorioretinal Dystrophy Boucher-Neuhäuser Syndrome Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism Ataxia - Hypogonadism - Choroidal Dystrophy Chorioretinal Dystrophy, Spinocerebellar Ataxia And Hypogonadotropic Hypogonadism Bns Cerebellar Ataxia With Hypogonadism And Choroidal Dystrophy Syndrome Boucher Neuhauser Syndrome
Bardet-Biedl Syndrome 5	BBS5 Bardet-Biedl Syndrome, Type 5
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	CADASIL2 Cadasil 2 Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 2 Htra1-Related Autosomal Dominant Cerebral Small Vessel Disease Htra1-Related Autosomal Dominant Cerebral Angiopathy Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 2 Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant, 2
Kaufman Oculocerebrofacial Syndrome	KOS Blepharophimosis-Ptosis-Intellectual Disability Syndrome Oculocerebrofacial Syndrome, Kaufman Type Bpids Blepharophimosis Ptosis Intellectual Disability Syndrome Blepharophimosis-Ptosis-Intellectual Disability Syndrome Severe Intellectual Disability, Microcephaly, Long Narrow Face, Ocular Anomalies, And Long Thin Hands And Feet Bpid Syndrome
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Cadasil Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Casil Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Familial Vascular Leukoencephalopathy CADASIL1 Cadasil 1 Hereditary Multi-Infarct Dementia Cadasil Syndrome Dementia, Hereditary Multiinfarct Type Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1 Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1 Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy Dementia, Hereditary Multi-Infarct Type Hereditary Dementia, Multi-Infarct Type Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1 Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant Dementia Hereditary Multiinfarct Type Dementia Hereditary Multi-Infarct Type Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy
Huntington Disease-Like 1	HDL1 Huntington-Like Neurodegenerative Disorder 1 Hln1 Huntington'S Disease-Like 1 Early-Onset Prion Disease With Prominent Psychiatric Features Huntington-Like Neurodegenerative Disorder, Autosomal Dominant Prion Disease, Early-Onset, With Prominent Psychiatric Features Autosomal Dominant Huntington-Like Neurodegenerative Disorder Huntington Disease-Like, Type 1
Spinocerebellar Ataxia, Autosomal Recessive 16	Autosomal Recessive Spinocerebellar Ataxia 16 SCAR16 Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency Spinocerebellar Ataxia Autosomal Recessive Type 16 Spinocerebellar Ataxia, Autosomal Recessive, 16 Ataxia, Spinocerebellar, Autosomal Recessive, Type 16
Noonan Syndrome 1	Noonan Syndrome NS1 Male Turner Syndrome Female Pseudo-Turner Syndrome Turner Phenotype With Normal Karyotype Noonan Syndrome With Pigmented Villonodular Synovitis Turner'S Phenotype, Karyotype Normal Familial Turner Syndrome Noonan'S Syndrome Noonan-Ehmke Syndrome Ns Pseudo-Ullrich-Turner Syndrome Turner Syndrome In Female With X Chromosome Turner-Like Syndrome Ullrich-Noonan Syndrome Noonan-Like/Multiple Giant Cell Lesion Syndrome Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions Pterygium Colli Syndrome Noonan Syndrome, Type 1 Turner Syndrome, Male
Choreatic Disease	Chorea Hereditary Chorea
Kallmann Syndrome	Hypogonadism With Anosmia Kallman'S Syndrome Anosmic Hypogonadism Anosmic Idiopathic Hypogonadotropic Hypogonadism Hypogonadotropic Hypogonadism And Anosmia Hypogonadotropic Hypogonadism-Anosmia Syndrome Olfacto-Genital Pathological Sequence Familial Hypogonadism With Anosmia Kallman Syndrome Dysplasia Olfactogenitalis Of De Morsier Kallmann'S Syndrome Congenital Hypogonadotropic Hypogonadism With Anosmia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS12080	RNF216 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RNF216	MGD	MGI:1344349
Rattus norvegicus	RNF216	RGD	RGD:1565135
Canis familiaris	RNF216	VGNC	VGNC:45659
Felis catus	RNF216	VGNC	VGNC:64695
Macaca mulatta	RNF216	VGNC	VGNC:108435
Bos taurus	RNF216	VGNC	VGNC:34053
Others	RNF216	NCBI