RNF213 (lymphoma oligomerization partner on chromosome 17)

2003-08-01   Jean-Loup Huret , Sylvie Senon 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Identity

HGNC
RNF213
LOCATION
17q25.3
LOCUSID
57674
ALIAS
ALO17,C17orf27,KIAA1618,MYMY2,MYSTR,NET57
FUSION GENES
Show Gene Fusions

DNA/RNA

Transcription

alternate spicing; 5185 and 5332 bp cDNA

Proteins

Description

1550 and 1599 amino acids if the sequence is complete; putative zinc finger in the N term, and AraC motif in the C term

Implicated in

Entity name
Anaplasic large cell lymphoma (ALCL) with t(2;17)(p23;q25) --> ALK- RNF213
Disease
ALCL are high grade non Hodgkin lymphomas; ALK+ ALCL are ALCL where ALK is involved in a fusion gene; ALK+ ALCL represent 50 to 60 % of ALCL cases (they are CD30+, ALK+;); belong to the "cytoplasmic ALK+" subset.
Prognosis
Althouth presenting as a high grade tumour, a 80% five yr survival is associated with this anomaly
Hybrid gene
5 ALO17 - 3 ALK
Fusion protein
NH2 ALO17 - COOH ALK

Bibliography

Pubmed IDLast YearTitleAuthors
121125242002Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor.Cools J et al

Other Information

Locus ID:

NCBI: 57674
MIM: 613768
HGNC: 14539
Ensembl: ENSG00000173821

Variants:

dbSNP: 57674
ClinVar: 57674
TCGA: ENSG00000173821
COSMIC: RNF213

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000173821ENST00000508628A0A0A0MTC1
ENSG00000173821ENST00000573038I3L3H9
ENSG00000173821ENST00000582970A0A0A0MTR7

Expression (GTEx)

0
10
20
30
40
50
60
70
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
217998922011Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development.110
210487832011A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.107
121125242002Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor.58
223778132012Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease.57
239707892013Genetic variant RNF213 c.14576G>A in various phenotypes of intracranial major artery stenosis/occlusion.37
231102052012Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population.35
252785572014RNF213 rare variants in an ethnically diverse population with Moyamoya disease.34
238506182013Downregulation of Securin by the variant RNF213 R4810K (rs112735431, G>A) reduces angiogenic activity of induced pluripotent stem cell-derived vascular endothelial cells from moyamoya patients.33
230106772012Identification of a genetic variant common to moyamoya disease and intracranial major artery stenosis/occlusion.30
246580802014Moyamoya disease-associated protein mysterin/RNF213 is a novel AAA+ ATPase, which dynamically changes its oligomeric state.27

Citation

Jean-Loup Huret ; Sylvie Senon

RNF213 (lymphoma oligomerization partner on chromosome 17)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/480/rnf213