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RNF213 (lymphoma oligomerization partner on chromosome 17)

Written2003-08Jean-Loup Huret, Sylvie Senon
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)ALO17 (ALK lymphoma oligomerization partner on chromosome 17)
HGNC (Hugo) RNF213
HGNC Alias symbKIAA1554
NET57
ALO17
HGNC Alias namemysterin
 ALK lymphoma oligomerization partner on chromosome 17
HGNC Previous nameC17orf27
 KIAA1618
 MYMY2
HGNC Previous namechromosome 17 open reading frame 27
 KIAA1618
 Moyamoya disease 2
LocusID (NCBI) 57674
Atlas_Id 480
Location 17q25.3  [Link to chromosome band 17q25]
Location_base_pair Starts at 80260852 and ends at 80321462 bp from pter ( according to GRCh38/hg38-Dec_2013)  [Mapping RNF213.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARHGDIA (17q25.3)::RNF213 (17q25.3)FRA10AC1 (10q23.33)::RNF213 (17q25.3)NELFE (6p21.33)::RNF213 (17q25.3)
RNF213 (17q25.3)::ALK (2p23.2)RNF213 (17q25.3)::BAIAP2 (17q25.3)RNF213 (17q25.3)::CA11 (19q13.33)
RNF213 (17q25.3)::ETV5 (3q27.2)RNF213 (17q25.3)::IL22RA1 (1p36.11)RNF213 (17q25.3)::MYC (8q24.21)
RNF213 (17q25.3)::PPM1L (3q25.33)RNF213 (17q25.3)::PRPF38B (1p13.3)RNF213 (17q25.3)::PSAP (10q22.1)
RNF213 (17q25.3)::RNF213 (17q25.3)RNF213 (17q25.3)::SIT1 (9p13.3)RNF213 (17q25.3)::SLC26A11 (17q25.3)
RNF213 (17q25.3)::SLC37A1 (21q22.3)RNF213 (17q25.3)::TPP1 (11p15.4)RPL10 (Xq28)::RNF213 (17q25.3)
RPS6KB1 (17q23.1)::RNF213 (17q25.3)RPTOR (17q25.3)::RNF213 (17q25.3)SLC16A3 (17q25.3)::RNF213 (17q25.3)
TBC1D16 (17q25.3)::RNF213 (17q25.3)UBE2O (17q25.1)::RNF213 (17q25.3)

DNA/RNA

Transcription alternate spicing; 5185 and 5332 bp cDNA

Protein

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

Note
  
Entity Anaplasic large cell lymphoma (ALCL) with --> 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/Mutated Gene 5' ALO17 - 3' ALK
Abnormal Protein NH2 ALO17 - COOH ALK
  

Bibliography

Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor.
Cools J, Wlodarska I, Somers R, Mentens N, Pedeutour F, Maes B, De Wolf-Peeters C, Pauwels P, Hagemeijer A, Marynen P
Genes, chromosomes & cancer. 2002 ; 34 (4) : 354-362.
PMID 12112524
 

Citation

This paper should be referenced as such :
Huret, JL ; Senon, S
ALO17 (ALK lymphoma oligomerization partner on chromosome 17)
Atlas Genet Cytogenet Oncol Haematol. 2003;7(4):220-220.
Free journal version : [ pdf ]   [ DOI ]


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 5 ]
  Anaplastic large cell lymphoma (ALCL)
t(2;17)(p23;q25) RNF213::ALK
t(8;17)(q24;q25) RNF213::MYC
t(17;17)(q25;q25) RNF213::SLC26A11
t(17;17)(q25;q25) TBC1D16::RNF213


External links

Nomenclature
HGNC (Hugo)RNF213   14539
Cards
AtlasALO17ID480
Atlas Explorer : (Salamanque)RNF213
Entrez_Gene (NCBI)RNF213    ring finger protein 213
AliasesALO17; C17orf27; KIAA1618; MYMY2; 
MYSTR; NET57
GeneCards (Weizmann)RNF213
Ensembl hg19 (Hinxton)ENSG00000173821 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000173821 [Gene_View]  ENSG00000173821 [Sequence]  chr17:80260852-80321462 [Contig_View]  RNF213 [Vega]
ICGC DataPortalENSG00000173821
TCGA cBioPortalRNF213
AceView (NCBI)RNF213
Genatlas (Paris)RNF213
SOURCE (Princeton)RNF213
Genetics Home Reference (NIH)RNF213
Genomic and cartography
GoldenPath hg38 (UCSC)RNF213  -     chr17:80260852-80321462 +  17q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RNF213  -     17q25.3   [Description]    (hg19-Feb_2009)
GoldenPathRNF213 - 17q25.3 [CytoView hg19]  RNF213 - 17q25.3 [CytoView hg38]
ImmunoBaseENSG00000173821
Genome Data Viewer NCBIRNF213 [Mapview hg19]  
OMIM607151   613768   
Gene and transcription
Genbank (Entrez)AB046774 AB046838 AB537889 AF397204 AF397205
RefSeq transcript (Entrez)NM_001256071 NM_020914 NM_020954
Consensus coding sequences : CCDS (NCBI)RNF213
Gene ExpressionRNF213 [ NCBI-GEO ]   RNF213 [ EBI - ARRAY_EXPRESS ]   RNF213 [ SEEK ]   RNF213 [ MEM ]
Gene Expression Viewer (FireBrowse)RNF213 [ Firebrowse - Broad ]
GenevisibleExpression of RNF213 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57674
GTEX Portal (Tissue expression)RNF213
Human Protein AtlasENSG00000173821-RNF213 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)RNF213
Human Protein Atlas [tissue]ENSG00000173821-RNF213 [tissue]
HPRD10716
Protein Interaction databases
BioGRIDRNF213
STRING (EMBL)RNF213
ZODIACRNF213
Ontologies - Pathways
Litterature
PubMed160 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRNF213
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Thu Jan 20 14:01:46 CET 2022

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