RNF213 - ring finger protein 213 Gene

Homo sapiens

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

Gene ID: 57674 | Gene type: protein coding

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

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12078	RNF213 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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