RNF213 (lymphoma oligomerization partner on chromosome 17)
2003-08-01 Jean-Loup Huret , Sylvie Senon AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
17q25.3
LOCUSID
ALIAS
ALO17,C17orf27,KIAA1618,MYMY2,MYSTR,NET57
FUSION GENES
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
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
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12112524 | 2002 | Identification 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 ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000173821 | ENST00000508628 | A0A0A0MTC1 |
| ENSG00000173821 | ENST00000573038 | I3L3H9 |
| ENSG00000173821 | ENST00000582970 | A0A0A0MTR7 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37698787 | 2024 | Arg4810Lys mutation in RNF213 among Eastern Indian non-MMD ischemic stroke patients: a genotype-phenotype correlation. | 0 |
| 37924258 | 2024 | De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke. | 2 |
| 38057092 | 2024 | Synergistic Interaction of Thyroid Autoantibodies and Ring Finger Protein 213 Variant in Moyamoya Disease. | 0 |
| 38141320 | 2024 | Posterior cerebral artery involvement in unilateral moyamoya disease is exclusively ipsilateral and influenced by RNF213 mutation gene dose: The SUPRA Japan study: PCA involvement in unilateral moyamoya. | 1 |
| 38147552 | 2024 | Genome-wide and targeted CRISPR screens identify RNF213 as a mediator of interferon gamma-dependent pathogen restriction in human cells. | 3 |
| 38811382 | 2024 | Knockdown the moyamoya disease susceptibility gene, RNF213, upregulates the expression of basic fibroblast growth factor and matrix metalloproteinase-9 in bone marrow derived mesenchymal stem cells. | 0 |
| 38927660 | 2024 | RNF213 Polymorphisms in Intracranial Artery Dissection. | 0 |
| 37698787 | 2024 | Arg4810Lys mutation in RNF213 among Eastern Indian non-MMD ischemic stroke patients: a genotype-phenotype correlation. | 0 |
| 37924258 | 2024 | De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke. | 2 |
| 38057092 | 2024 | Synergistic Interaction of Thyroid Autoantibodies and Ring Finger Protein 213 Variant in Moyamoya Disease. | 0 |
| 38141320 | 2024 | Posterior cerebral artery involvement in unilateral moyamoya disease is exclusively ipsilateral and influenced by RNF213 mutation gene dose: The SUPRA Japan study: PCA involvement in unilateral moyamoya. | 1 |
| 38147552 | 2024 | Genome-wide and targeted CRISPR screens identify RNF213 as a mediator of interferon gamma-dependent pathogen restriction in human cells. | 3 |
| 38811382 | 2024 | Knockdown the moyamoya disease susceptibility gene, RNF213, upregulates the expression of basic fibroblast growth factor and matrix metalloproteinase-9 in bone marrow derived mesenchymal stem cells. | 0 |
| 38927660 | 2024 | RNF213 Polymorphisms in Intracranial Artery Dissection. | 0 |
| 35642380 | 2023 | Different phenotypes of moyamoya disease in a Chinese familial case involving heterozygous c.14429G>a variant in RNF213. | 0 |
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
