RNF213 - ring finger protein 213 Gene

Also Known as ALO17; MYMY2; MYSTR; NET57; C17orf27; KIAA1618

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57674

About RNF213

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:80,260,852-80,398,794 (from NCBI)

This gene has 20 transcripts (splice variants), 278 orthologues and is associated with 110 phenotypes. Ubiquitous expression in spleen (RPKM 11.7), appendix (RPKM 11.6) and 25 other tissues.

Summary

This gene encodes a protein containing a C3HC4-type RING finger domain, which is a specialized type of Zn-finger that binds two atoms of zinc and is thought to be involved in mediating protein-protein interactions. The protein also contains an AAA domain, which is associated with ATPase activity. This gene is a susceptibility gene for Moyamoya disease, a vascular disorder of intracranial arteries. This gene is also a translocation partner in anaplastic large cell lymphoma and inflammatory myofibroblastic tumor cases, where a t(2;17)(p23;q25) translocation has been identified with the anaplastic lymphoma kinase (ALK) gene on chromosome 2, and a t(8;17)(q24;q25) translocation has been identified with the MYC gene on chromosome 8. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]

RNF213 Products (4)

mRNA	Protein	Name
NM_001256071.3	NP_001243000.2	E3 ubiquitin-protein ligase RNF213 isoform 3
NM_001410195.1	NP_001397124.1	E3 ubiquitin-protein ligase RNF213 isoform 1
NM_020914.5	NP_065965.5	protein ALO17 isoform 1
NM_020954.4	NP_066005.2	E3 ubiquitin-protein ligase RNF213 isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	21799892	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables ubiquitin protein ligase activity	IDA IDA: Inferred from direct assay	32139119	GOA
enables ubiquitin-protein transferase activity	IDA IDA: Inferred from direct assay	21799892	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in angiogenesis	IMP IMP: Inferred from mutant phenotype	26126547	GOA
involved in defense response to bacterium	IDA IDA: Inferred from direct assay	34012115	GOA
involved in lipid droplet formation	IDA IDA: Inferred from direct assay	30705059	GOA
involved in lipid ubiquitination	IDA IDA: Inferred from direct assay	34012115	GOA
involved in negative regulation of non-canonical Wnt signaling pathway	IMP IMP: Inferred from mutant phenotype	26766444	GOA
involved in protein K63-linked ubiquitination	IDA IDA: Inferred from direct assay	32139119	GOA
involved in protein autoubiquitination	IDA IDA: Inferred from direct assay	21799892	GOA
involved in protein ubiquitination	IDA IDA: Inferred from direct assay	21799892	GOA
involved in regulation of lipid metabolic process	IDA IDA: Inferred from direct assay	30705059	GOA
involved in sprouting angiogenesis	IMP IMP: Inferred from mutant phenotype	26766444	GOA
involved in ubiquitin-dependent protein catabolic process	IMP IMP: Inferred from mutant phenotype	26766444	GOA
involved in xenophagy	IDA IDA: Inferred from direct assay	34012115	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	21799892	GOA
is active in cytosol	IDA IDA: Inferred from direct assay	34012115	GOA
located in cytosol	IDA IDA: Inferred from direct assay	30705059	GOA
located in lipid droplet	IDA IDA: Inferred from direct assay	30705059	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

RNF213 Protein Structure

zf-C3HC4

0
900
1800
2700
3600
4500
5207 a.a.

Protein Preferred Names	Protein Names
protein ALO17 E3 ubiquitin-protein ligase RNF213	ALK lymphoma oligomerization partner on chromosome 17

Protein Preferred Names

Protein Names

protein ALO17

E3 ubiquitin-protein ligase RNF213

ALK lymphoma oligomerization partner on chromosome 17

RNF213 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P810041	RNF213 Antibody (YA9385)	WB, IP, ELISA	human

Related Diseases

Diseases	Alias
Moyamoya Disease 2	MYMY2 Moyamoya Disease 2, Susceptibility To Moyamoya Disease, Type 2
Moyamoya Disease 1	Moyamoya Disease Spontaneous Occlusion Of The Circle Of Willis Mymy Progressive Intracranial Arterial Occlusion Moyamoya Syndrome MYMY1 Cerebrovascular Moyamoya Disease Moya-Moya Disease Progressive Intracranial Occlusive Arteropathy Idiopathic Moyamoya Disease
Anaplastic Large Cell Lymphoma	Alcl Cd30 Positive Anaplastic Large Cell Lymphoma Ki-1 Positive Anaplastic Large Cell Lymphoma Primary Systemic Alcl Sacl Ki-1+ Anaplastic Large Cell Lymphoma
Atypical Coarctation Of Aorta	Middle Aortic Syndrome Coarctation Of The Abdominal Aorta Mid-Aortic Dysplastic Syndrome Mid-Aortic Syndrome Midaortic Syndrome Takayasu Arteritis
Cerebral Arterial Disease	Cerebral Arterial Diseases
Inflammatory Myofibroblastic Tumor	Inflammatory Fibrosarcoma
Lymphoma	Lymphoid Cancer Lymphomas Lymphoid Cancers Lymphoid Neoplasm Lymphoma Nos Nhl - [Non-Hodgkin Lymphoma] Non-Hodgkin Lymphoma Non-Hodgkin Lymphoma, Nos Non-Hodgkin Malignant Lymphoma Nos
Median Arcuate Ligament Syndrome	Celiac Artery Compression Syndrome Dunbar Syndrome Mals Harjola-Marable Syndrome Marable'S Syndrome Celiac Axis Syndrome
Hemiplegia	Infantile Hemiplegia Postnatal Infantile Hemiplegia Hemiplegia, Infantile
Fibromuscular Dysplasia
Asymptomatic Neurosyphilis	Neurosyphilis Neurosyphilis, Asymptomatic
Gerstmann Syndrome	Aphasia-Angular Gyrus Syndrome Developmental Gerstmann Syndrome Gs Gerstmann Badal Syndrome Gerstmann Tetrad Gerstmann'S Syndrome Developmental Gerstmann'S Syndrome
Cerebral Atherosclerosis	Intracranial Arteriosclerosis
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Microcephalic Osteodysplastic Primordial Dwarfism Type Ii Majewski Osteodysplastic Primordial Dwarfism Type Ii MOPD2 Mopd Ii Osteodysplastic Primordial Dwarfism Type Ii Mopdii Osteodysplastic Primordial Dwarfism Type 2 Osteodysplastic Primordial Dwarfism, Type Ii Pcnt-Related Microcephalic Osteodysplastic Primordial Dwarfism Microcephalic Osteodysplastic Primordial Dwarfism Type 2 Mopd 2 Microcephalic Osteodysplastic Primordial Dwarfism With Tooth Abnormalities Mopd Type Ii Microcephalic Osteodysplastic Primordial Dwarfism 2 Dwarfism, Primordial, Osteodysplastic, Microcephalic Type Ii
Neurofibromatosis, Type I	Von Recklinghausen Disease Neurofibromatosis 1 Neurofibromatosis, Type 1 NF1 Neurofibromatosis, Peripheral Type Neurofibromatosis Type I Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion Familial Spinal Neurofibromatosis Fsnf Peripheral Neurofibromatosis Von Recklinghausen'S Neurofibromatosis Von Recklinghausen Disease Due To Nf1 Mutation Or Intragenic Deletion Neurofibromatosis Peripheral Type Von Recklinghausen Syndrome Neurofibromatosis Type 1 Von Recklinghausen Neuropathy Nf1 - [Neurofibromatosis Type 1] Recklinghausen Disease
Aortic Aneurysm, Familial Thoracic 1	Thoracic Aortic Aneurysm Annuloaortic Ectasia Familial Thoracic Aortic Aneurysm And Aortic Dissection Familial Aortic Dissection Familial Taad Familial Thoracic Aortic Aneurysm Congenital Aneurysm Of Ascending Aorta Familial Aortic Aneurysm Familial Thoracic Aortic Aneurysm And Dissection Aortic Aneurysm, Thoracic AAT1 Faa1 Aortic Dissection, Familial Aortic Aneurysm, Familial Thoracic Aneurysm, Thoracic Aortic Faa Ftaad Taa Taad Cystic Medial Necrosis Of Aorta Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection Aortic Aneurysm Thoracic Familial Aortic Aneurysms Aneurysm, Aortic, Thoracic, Familial, Type 1 Aneurysm Of Thoracic Aorta Intrathoracic Aneurysm Thoracic Aorta Aneurysm Thoracic Aortic Aneurysm Without Rupture Thoracic Aneurysm Thorax Arterial Aneurysm Thoracic Artery Aneurysm Thoracic Arterial Aneurysm Thorax Aneurysm Thorax Aortic Aneurysm Dissection Of Thoracic Aorta

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS21923	Rnf213 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-184598	CYB-5067		/	Unkown
HY-RS12078	RNF213 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28439	Rnf213 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	RNF213	VGNC	VGNC:99433
Rattus norvegicus	RNF213	RGD	RGD:1308168
Macaca mulatta	RNF213	VGNC	VGNC:76734
Canis familiaris	RNF213	VGNC	VGNC:45657
Mus musculus	RNF213	MGD	MGI:1289196
Others	RNF213	NCBI