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REL v-rel reticuloendotheliosis viral oncogene homolog (avian)

Written2002-01Fei Chen
Health Effects Laboratory Division, NIOSH, 1095 Willowdale Rd, Morgantown, WV 26505, USA

(Note : for Links provided by Atlas : click)

Identity

Other namesc-rel
HGNC (Hugo) REL
LocusID (NCBI) 5966
Atlas_Id 322
Location 2p16.1  [Link to chromosome band 2p16]
Location_base_pair Starts at 61108630 and ends at 61155291 bp from pter ( according to hg19-Feb_2009)  [Mapping REL.png]
Fusion genes
(updated 2016)
IGL (22q11.22) / REL (2p16.1)IGLV3-10 () / REL (2p16.1)REL (2p16.1) / MAN1A2 (1p12)
REL (2p16.1) / MVP (16p11.2)
Note see also, in the Deep Insight section: Upstream Signal Transduction of NF-kB Activation

DNA/RNA

Description The gene encoding human Rel has 11 exons spanning ~ 40 kb. The promoter region of rel gene contains five NF-kB binding sites and six Sp1 binding sites, and a number of AP2 sites. Thus, the expression of rel gene might be through autoregulation along with certain stress signals.

Protein

Description The human rel gene encodes a protein composed 619 amino acids with an approximately molecular weight of 68 - 70 kDa. The Rel protein is structurally similar with other Rel family members containing RHD, NLS and TA domain. However, analysis of X-ray crystal structure revealed that the Rel homodimer preferentially binds to the CD28RE with higher affinity as compared to other canonical kB sequences.
Expression wide.
Localisation cytosol, nuclei after activation.
Function regulation of the genes involved in cell-to-cell interaction, intercellular communication, cell recruitment or transmigration, amplification or spreading of primary pathogenic signals, cell apoptosis, and initiation or acceleration of tumorigenesis. Interaction with: members of IkB family and Rel family; MKK4; c-Fos; c-Jun; UBE2; PPP4C.

Implicated in

Note
Entity cancer, autoimmune arthritis, glomerulonephritis, asthma, inflammatory bowel disease, septic shock, lung fibrosis, HTLV-1 infection, and AIDS.
Note Only one report suggested the rearrangement of rel gene in certain type of lymphomas. This rearrangement of rel gene resulted in the deletion of the C-terminal domain of Rel and the fusion of the RHD of Rel with Nrg.
Oncogenesis Amplification of rel locus was frequently noted in a number of lymphomas.
  

Bibliography

The NF-kappa B and I kappa B proteins: new discoveries and insights.
Baldwin AS Jr
Annual review of immunology. 1996 ; 14 : 649-683.
PMID 8717528
 
Genomic organization of the gene encoding the p65 subunit of NF-kappa B: multiple variants of the p65 protein may be generated by alternative splicing.
Deloukas P, van Loon AP
Human molecular genetics. 1993 ; 2 (11) : 1895-1900.
PMID 8281153
 
NF-kappa B and Rel proteins: evolutionarily conserved mediators of immune responses.
Ghosh S, May MJ, Kopp EB
Annual review of immunology. 1998 ; 16 : 225-260.
PMID 9597130
 
Alterations at the rel locus in human lymphoma.
Lu D, Thompson JD, Gorski GK, Rice NR, Mayer MG, Yunis JJ
Oncogene. 1991 ; 6 (7) : 1235-1241.
PMID 1650444
 
Aberrant rel/nfkb genes and activity in human cancer.
Rayet B, Gélinas C
Oncogene. 1999 ; 18 (49) : 6938-6947.
PMID 10602468
 
Phosphorylation of NF-kappa B p65 by PKA stimulates transcriptional activity by promoting a novel bivalent interaction with the coactivator CBP/p300.
Zhong H, Voll RE, Ghosh S
Molecular cell. 1998 ; 1 (5) : 661-671.
PMID 9660950
 

Citation

This paper should be referenced as such :
Chen, F
REL (v-rel reticuloendotheliosis viral oncogene homolog (avian))
Atlas Genet Cytogenet Oncol Haematol. 2002;6(2):104-105.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/RELID322.html


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  Hodgkin lymphoma
t(2;14)(p13-16;q32) IGH/BCL11A

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 0 ]
  Lung: Translocations in Squamous Cell Carcinoma

External links

Nomenclature
HGNC (Hugo)REL   9954
Cards
AtlasRELID322
Entrez_Gene (NCBI)REL  5966  v-rel avian reticuloendotheliosis viral oncogene homolog
AliasesC-Rel
GeneCards (Weizmann)REL
Ensembl hg19 (Hinxton)ENSG00000162924 [Gene_View]  chr2:61108630-61155291 [Contig_View]  REL [Vega]
Ensembl hg38 (Hinxton)ENSG00000162924 [Gene_View]  chr2:61108630-61155291 [Contig_View]  REL [Vega]
ICGC DataPortalENSG00000162924
TCGA cBioPortalREL
AceView (NCBI)REL
Genatlas (Paris)REL
WikiGenes5966
SOURCE (Princeton)REL
Genomic and cartography
GoldenPath hg19 (UCSC)REL  -     chr2:61108630-61155291 +  2p13-p12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)REL  -     2p13-p12   [Description]    (hg38-Dec_2013)
EnsemblREL - 2p13-p12 [CytoView hg19]  REL - 2p13-p12 [CytoView hg38]
Mapping of homologs : NCBIREL [Mapview hg19]  REL [Mapview hg38]
OMIM164910   
Gene and transcription
Genbank (Entrez)AA279919 AK123369 AK303926 BC051005 BC117191
RefSeq transcript (Entrez)NM_001291746 NM_002908
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_022184 NW_004929300
Consensus coding sequences : CCDS (NCBI)REL
Cluster EST : UnigeneHs.633256 [ NCBI ]
CGAP (NCI)Hs.633256
Alternative Splicing GalleryENSG00000162924
Gene ExpressionREL [ NCBI-GEO ]   REL [ EBI - ARRAY_EXPRESS ]   REL [ SEEK ]   REL [ MEM ]
Gene Expression Viewer (FireBrowse)REL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5966
GTEX Portal (Tissue expression)REL
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ04864 (Uniprot)
NextProtQ04864  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ04864
Splice isoforms : SwissVarQ04864 (Swissvar)
PhosPhoSitePlusQ04864
Domaine pattern : Prosite (Expaxy)REL_1 (PS01204)    REL_2 (PS50254)   
Domains : Interpro (EBI)c-Rel    Ig-like_fold    Ig_E-set    IPT    NFkB/Dor    p53-like_TF_DNA-bd    RHD_CS    RHD_dimer    RHD_DNA_bind_dom   
Domain families : Pfam (Sanger)RHD_dimer (PF16179)    RHD_DNA_bind (PF00554)   
Domain families : Pfam (NCBI)pfam16179    pfam00554   
Domain families : Smart (EMBL)IPT (SM00429)  
DMDM Disease mutations5966
Blocks (Seattle)REL
SuperfamilyQ04864
Human Protein AtlasENSG00000162924
Peptide AtlasQ04864
HPRD01286
IPIIPI00029773   IPI00784297   
Protein Interaction databases
DIP (DOE-UCLA)Q04864
IntAct (EBI)Q04864
FunCoupENSG00000162924
BioGRIDREL
STRING (EMBL)REL
ZODIACREL
Ontologies - Pathways
QuickGOQ04864
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  transcription factor complex  cytosol  cytosol  transcription from RNA polymerase II promoter  inflammatory response  I-kappaB kinase/NF-kappaB signaling  negative regulation of gene expression  negative regulation of interferon-beta production  I-kappaB/NF-kappaB complex  response to cytokine  NIK/NF-kappaB signaling  positive regulation of I-kappaB kinase/NF-kappaB signaling  innate immune response  positive regulation of transcription from RNA polymerase II promoter  negative regulation of neuron death  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II distal enhancer sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding  chromatin binding  transcription factor activity, sequence-specific DNA binding  protein binding  nucleus  nucleoplasm  transcription factor complex  cytosol  cytosol  transcription from RNA polymerase II promoter  inflammatory response  I-kappaB kinase/NF-kappaB signaling  negative regulation of gene expression  negative regulation of interferon-beta production  I-kappaB/NF-kappaB complex  response to cytokine  NIK/NF-kappaB signaling  positive regulation of I-kappaB kinase/NF-kappaB signaling  innate immune response  positive regulation of transcription from RNA polymerase II promoter  negative regulation of neuron death  
Pathways : KEGGRas signaling pathway    Transcriptional misregulation in cancer    Viral carcinogenesis   
REACTOMEQ04864 [protein]
REACTOME PathwaysR-HSA-1169091 Activation of NF-kappaB in B cells [pathway]
NDEx Network
Atlas of Cancer Signalling NetworkREL
Wikipedia pathwaysREL
Orthology - Evolution
OrthoDB5966
GeneTree (enSembl)ENSG00000162924
Phylogenetic Trees/Animal Genes : TreeFamREL
Homologs : HomoloGeneREL
Homology/Alignments : Family Browser (UCSC)REL
Gene fusions - Rearrangements
Fusion : MitelmanIGL/REL [22q11.22/2p16.1]  [t(2;22)(p16;q11)]  
Fusion : MitelmanREL/MAN1A2 [2p16.1/1p12]  [t(1;2)(p12;p16)]  
Fusion : MitelmanREL/MVP [2p16.1/16p11.2]  [t(2;16)(p16;p11)]  
Fusion: TCGAREL 2p16.1 MAN1A2 1p12 LUSC
Fusion: TCGAREL 2p16.1 MVP 16p11.2 LUAD
Polymorphisms : SNP, variants
NCBI Variation ViewerREL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)REL
dbVarREL
ClinVarREL
1000_GenomesREL 
Exome Variant ServerREL
ExAC (Exome Aggregation Consortium)REL (select the gene name)
Genetic variants : HAPMAP5966
Genomic Variants (DGV)REL [DGVbeta]
Mutations
ICGC Data PortalREL 
TCGA Data PortalREL 
Broad Tumor PortalREL
OASIS PortalREL [ Somatic mutations - Copy number]
Cancer Gene: CensusREL 
Somatic Mutations in Cancer : COSMICREL 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch REL
DgiDB (Drug Gene Interaction Database)REL
DoCM (Curated mutations)REL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)REL (select a term)
intoGenREL
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)2:61108630-61155291  ENSG00000162924
CONAN: Copy Number AnalysisREL 
Mutations and Diseases : HGMDREL
OMIM164910   
MedgenREL
Genetic Testing Registry REL
NextProtQ04864 [Medical]
TSGene5966
GENETestsREL
Huge Navigator REL [HugePedia]
snp3D : Map Gene to Disease5966
BioCentury BCIQREL
ClinGenREL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5966
Chemical/Pharm GKB GenePA34321
Clinical trialREL
Miscellaneous
canSAR (ICR)REL (select the gene name)
Probes
Litterature
PubMed153 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineREL
EVEXREL
GoPubMedREL
iHOPREL
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Aug 10 18:45:15 CEST 2016

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