RNF217 - ring finger protein 217 Gene

Homo sapiens

Also known as OSTL; IBRDC1; C6orf172; dJ84N20.1

Gene ID: 154214 | Gene type: protein coding

About RNF217

Cytogenetic location: 6q22.31 Genomic coordinates (GRCh38): 6:124,962,437-125,092,634 (from NCBI)

This gene has 11 transcripts (splice variants), 198 orthologues and 9 paralogues. Ubiquitous expression in fat (RPKM 3.1), skin (RPKM 2.9) and 25 other tissues.

Summary

This protein encoded by this gene is a member of the RING1-IBR-RING24 (RBR) ubiquitin protein ligase family, and it belongs to a subfamily of these proteins that contain a transmembrane domain. This protein can interact with the HAX1 anti-apoptotic protein via its C-terminal RING finger motif, which suggests a role in Apoptosis signaling. It is thought that deregulation of this gene can be a mechanism in leukemogenesis. Mutations in the region encoding the protein GXXXG motif, which appears to be necessary for protein self-association, have been found in human cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2016]

RNF217 Products(2)

mRNA	Protein	Name
NM_001286398.3	NP_001273327.1	E3 ubiquitin-protein ligase RNF217 isoform a
NM_152553.5	NP_689766.1	E3 ubiquitin-protein ligase RNF217 isoform b

RNF217 Protein Structure

IBR

0
100
200
300
400
500
542 a.a.

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase RNF217

IBR domain containing 1

Related Diseases

Diseases

Alias

Multiple Sclerosis

MS	Multiple Sclerosis, Susceptibility To
Disseminated Sclerosis	Multiple Sclerosis, Disease Progression, Modifier Of
Insular Sclerosis	Multiple Sclerosis Modifier Of Disease Progression
Multiple Sclerosis, Susceptibility To 1	Multiple Sclerosis, Susceptibility To, 1
Multiple Sclerosis 1	Generalized Multiple Sclerosis
Multiple Sclerosis Variant	Multiple Sclerosis Susceptibility To
Cerebrospinal Sclerosis	Generalised Multiple Sclerosis
Ms - [Multiple Sclerosis]	Disseminated Cerebrospinal Sclerosis
Disseminated Multiple Sclerosis	Disseminated Nervous System Myelosclerosis
Multiple Cerebrospinal Sclerosis	Multiple Combined Sclerosis
Multiple Sclerosis Generalised	Disseminated Brain Sclerosis
Disseminated Spinal Sclerosis	Insular Brain Sclerosis
Miliary Brain Sclerosis	Multiple Combined Sclerosis Of Spinal Cord
Multiple Ascending Sclerosis	Multiple Brain Sclerosis
Multiple Sclerosis Of Brain Stem	Multiple Sclerosis Of The Brain Stem
Multiple Sclerosis Of Cord	Sclérose En Plaques
Plaque Sclerosis	Multiple Sclerosis Of The Spinal Cord

Childhood B-Cell Acute Lymphoblastic Leukemia

B-Cell Childhood Acute Lymphoblastic Leukemia

Arthrogryposis, Distal, Type 6

Distal Arthrogryposis Type 6	DA6
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome	Arthrogryposis And Sensorineural Deafness
Familial Hand Abnormality And Sensori-Neural Deafness	Arthrogryposis-Like Hand Anomaly And Sensorineural Deafness
Arthrogryposis-Like Hand Anomaly-Sensorineural Hearing Loss Syndrome

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-RS12081	RNF217 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RNF217	VGNC	VGNC:64696
Rattus norvegicus	RNF217	RGD	RGD:1306836
Bos taurus	RNF217	VGNC	VGNC:53802
Canis familiaris	RNF217	VGNC	VGNC:53762
Mus musculus	RNF217	MGD	MGI:3610311
Macaca mulatta	RNF217	VGNC	VGNC:76801

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