RNF216 - ring finger protein 216 Gene

Homo sapiens

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

Gene ID: 54476 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12080	RNF216 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

Name
Email *

	Sorry, but the email address you supplied was invalid.