Free for academic non-profit institutions. Other users need a Commercial license

Aliases for REL Gene

Aliases for REL Gene

  • REL Proto-Oncogene, NF-KB Subunit 2 3 5
  • V-Rel Avian Reticuloendotheliosis Viral Oncogene Homolog 2 3
  • Oncogene REL, Avian Reticuloendotheliosis 3
  • Proto-Oncogene C-Rel 3
  • C-Rel 3

External Ids for REL Gene

Previous GeneCards Identifiers for REL Gene

  • GC02P061237
  • GC02P061067
  • GC02P061083
  • GC02P061020
  • GC02P061108
  • GC02P060851

Summaries for REL Gene

Entrez Gene Summary for REL Gene

  • This gene encodes a protein that belongs to the Rel homology domain/immunoglobulin-like fold, plexin, transcription factor (RHD/IPT) family. Members of this family regulate genes involved in apoptosis, inflammation, the immune response, and oncogenic processes. This proto-oncogene plays a role in the survival and proliferation of B lymphocytes. Mutation or amplification of this gene is associated with B-cell lymphomas, including Hodgkin's lymphoma. Single nucleotide polymorphisms in this gene are associated with susceptibility to ulcerative colitis and rheumatoid arthritis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2014]

GeneCards Summary for REL Gene

REL (REL Proto-Oncogene, NF-KB Subunit) is a Protein Coding gene. Diseases associated with REL include B-Cell Lymphomas and Diffuse Large B-Cell Lymphoma. Among its related pathways are Development_Glucocorticoid receptor signaling and Development A3 receptor signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and chromatin binding. An important paralog of this gene is RELA.

UniProtKB/Swiss-Prot for REL Gene

  • Proto-oncogene that may play a role in differentiation and lymphopoiesis. NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. The NF-kappa-B heterodimer RELA/p65-c-Rel is a transcriptional activator.

Gene Wiki entry for REL Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for REL Gene

Genomics for REL Gene

Regulatory Elements for REL Gene

Enhancers for REL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02F060805 1.3 FANTOM5 Ensembl ENCODE 22.8 -74.7 -74718 2.5 HDAC1 ATF1 PKNOX1 ARNT ZBTB40 RAD21 GATA2 EGR2 JUNB ELF1 REL LINC01185 PAPOLG GC02M060804
GH02F060880 1.3 FANTOM5 ENCODE 21 +2.2 2164 7.2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 FOS ZNF263 REL PUS10 AHSA2 LOC339803 GC02P060883
GH02F060899 1.2 FANTOM5 Ensembl ENCODE 15.5 +18.2 18212 1.0 BMI1 RELA ZNF316 POLR2A CBX5 EGR1 EED CREM MAFK MTA2 REL PAPOLG AHSA2 GC02P060912 GC02P060883
GH02F060853 0.3 FANTOM5 15.2 -27.7 -27710 0.5 ZBTB33 SPI1 REL LINC01185 PAPOLG GC02P060853 GC02P060859
GH02F060837 1.1 FANTOM5 ENCODE 13.8 -41.7 -41655 4.3 HDGF PKNOX1 ATF1 ARID4B SIN3A DMAP1 ZNF48 ZNF121 GLIS2 KLF13 PAPOLG REL LINC01185 KIAA1841 AHSA2 PUS10 ENSG00000232713 C2orf74 PEX13 RN7SL632P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around REL on UCSC Golden Path with GeneCards custom track

Promoters for REL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000591128 1805 5801 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 FOS ZNF263 SP3

Genomic Location for REL Gene

Chromosome:
2
Start:
60,881,495 bp from pter
End:
60,931,610 bp from pter
Size:
50,116 bases
Orientation:
Plus strand

Genomic View for REL Gene

Genes around REL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
REL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for REL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for REL Gene

Proteins for REL Gene

  • Protein details for REL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q04864-REL_HUMAN
    Recommended name:
    Proto-oncogene c-Rel
    Protein Accession:
    Q04864
    Secondary Accessions:
    • Q17RU2
    • Q2PNZ7
    • Q6LDY0

    Protein attributes for REL Gene

    Size:
    619 amino acids
    Molecular mass:
    68520 Da
    Quaternary structure:
    • Component of the NF-kappa-B p65-c-Rel complex. Component of the NF-kappa-B p50-c-Rel complex. Component of the NF-kappa-B p52-c-Rel complex. Homodimer; component of the NF-kappa-B c-Rel-c-Rel complex (By similarity). Interacts with NKIRAS1. Interacts with NFKBIB (By similarity). Interacts with NFKBIE.

    Alternative splice isoforms for REL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for REL Gene

Post-translational modifications for REL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for REL Gene

No data available for DME Specific Peptides for REL Gene

Domains & Families for REL Gene

Gene Families for REL Gene

Suggested Antigen Peptide Sequences for REL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q04864

UniProtKB/Swiss-Prot:

REL_HUMAN :
  • Contains 1 RHD (Rel-like) domain.
Domain:
  • Contains 1 RHD (Rel-like) domain.
genes like me logo Genes that share domains with REL: view

Function for REL Gene

Molecular function for REL Gene

GENATLAS Biochemistry:
avian reticuloendotheliosis viral (v-rel) oncogene homolog,involved in lymphomagenesis (diffuse large B cell lymphoma)
UniProtKB/Swiss-Prot Function:
Proto-oncogene that may play a role in differentiation and lymphopoiesis. NF-kappa-B is a pleiotropic transcription factor which is present in almost all cell types and is involved in many biological processed such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. The NF-kappa-B heterodimer RELA/p65-c-Rel is a transcriptional activator.

Gene Ontology (GO) - Molecular Function for REL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IDA 1406630
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding IDA 1406630
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA --
GO:0003700 transcription factor activity, sequence-specific DNA binding NAS 8423996
genes like me logo Genes that share ontologies with REL: view
genes like me logo Genes that share phenotypes with REL: view

Animal Models for REL Gene

MGI Knock Outs for REL:

Animal Model Products

miRNA for REL Gene

miRTarBase miRNAs that target REL

Transcription Factor Targets for REL Gene

Selected GeneGlobe predicted Target genes for REL

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for REL

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and HOMER Transcription for REL Gene

Localization for REL Gene

Subcellular locations from UniProtKB/Swiss-Prot for REL Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for REL Gene COMPARTMENTS Subcellular localization image for REL gene
Compartment Confidence
cytosol 5
nucleus 5
extracellular 2
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for REL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IMP 22065573
GO:0005654 nucleoplasm TAS --
GO:0005667 transcription factor complex IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with REL: view

Pathways & Interactions for REL Gene

genes like me logo Genes that share pathways with REL: view

SIGNOR curated interactions for REL Gene

Is activated by:

Gene Ontology (GO) - Biological Process for REL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IBA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IEA --
GO:0006954 inflammatory response IBA --
genes like me logo Genes that share ontologies with REL: view

Drugs & Compounds for REL Gene

(17) Drugs for REL Gene - From: ApexBio and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
JSH-23 Pharma NF-κB inhibitor 0
QNZ (EVP4593) Pharma Potent NF-κB inhibitor 0
Triptolide Pharma IL-2/MMP-3/MMP7/MMP19 inhibitor 6

(7) Additional Compounds for REL Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) ApexBio Compounds for REL Gene

Compound Action Cas Number
JSH-23 NF-κB inhibitor 749886-87-1
QNZ (EVP4593) Potent NF-κB inhibitor 545380-34-5
Triptolide IL-2/MMP-3/MMP7/MMP19 inhibitor 38748-32-2
genes like me logo Genes that share compounds with REL: view

Transcripts for REL Gene

Unigene Clusters for REL Gene

V-rel reticuloendotheliosis viral oncogene homolog (avian):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for REL

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for REL Gene

No ASD Table

Relevant External Links for REL Gene

GeneLoc Exon Structure for
REL
ECgene alternative splicing isoforms for
REL

Expression for REL Gene

mRNA expression in normal human tissues for REL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for REL Gene

This gene is overexpressed in Whole Blood (x4.4).

Protein differential expression in normal tissues from HIPED for REL Gene

This gene is overexpressed in Peripheral blood mononuclear cells (18.6) and Monocytes (11.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for REL Gene



Protein tissue co-expression partners for REL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of REL Gene:

REL

SOURCE GeneReport for Unigene cluster for REL Gene:

Hs.631886
genes like me logo Genes that share expression patterns with REL: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for REL Gene

Orthologs for REL Gene

This gene was present in the common ancestor of animals.

Orthologs for REL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia REL 34 35
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia REL 34 35
  • 89.69 (n)
cow
(Bos Taurus)
Mammalia REL 34 35
  • 89.46 (n)
mouse
(Mus musculus)
Mammalia Rel 34 16 35
  • 82.22 (n)
rat
(Rattus norvegicus)
Mammalia Rel 34
  • 78.27 (n)
oppossum
(Monodelphis domestica)
Mammalia REL 35
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia REL 35
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves REL 34 35
  • 62.79 (n)
lizard
(Anolis carolinensis)
Reptilia REL 35
  • 49 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia rel-A 34
zebrafish
(Danio rerio)
Actinopterygii rel 35
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta dl 36 35
  • 46 (a)
Dif 36 35
  • 39 (a)
Rel 36
  • 37 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.770 34
Species where no ortholog for REL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for REL Gene

ENSEMBL:
Gene Tree for REL (if available)
TreeFam:
Gene Tree for REL (if available)

Paralogs for REL Gene

Paralogs for REL Gene

(3) SIMAP similar genes for REL Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with REL: view

Variants for REL Gene

Sequence variations from dbSNP and Humsavar for REL Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs10153605 -- 60,900,593(+) atctc(A/G)gctta intron-variant, upstream-variant-2KB
rs10168495 -- 60,914,900(+) acaat(C/G/T)tcggc intron-variant
rs10171095 -- 60,893,998(+) TATGT(A/G)CTATC intron-variant
rs10172912 -- 60,912,907(+) GTCGG(A/T)Ttccc intron-variant
rs10185028 -- 60,891,604(+) GTTAT(A/G)AAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for REL Gene

Variant ID Type Subtype PubMed ID
dgv6908n54 CNV gain 21841781
nsv1127728 CNV deletion 24896259
nsv1134866 CNV deletion 24896259
nsv2749 CNV insertion 18451855
nsv524802 CNV loss 19592680
nsv834215 CNV loss 17160897
nsv953131 CNV duplication 24416366

Variation tolerance for REL Gene

Residual Variation Intolerance Score: 28% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.84; 34.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for REL Gene

Human Gene Mutation Database (HGMD)
REL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
REL

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for REL Gene

Disorders for REL Gene

MalaCards: The human disease database

(13) MalaCards diseases for REL Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
b-cell lymphomas
  • b-cell lymphoma
diffuse large b-cell lymphoma
  • dlbcl
histoplasmosis
  • reticuloendothelial hyperplasia
hodgkin lymphoma
  • hodgkin's lymphoma
nodular lymphocyte predominant hodgkin lymphoma
  • nlphl
- elite association - COSMIC cancer census association via MalaCards
Search REL in MalaCards View complete list of genes associated with diseases

Relevant External Links for REL

Genetic Association Database (GAD)
REL
Human Genome Epidemiology (HuGE) Navigator
REL
Tumor Gene Database (TGDB):
REL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
REL
genes like me logo Genes that share disorders with REL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for REL Gene

Publications for REL Gene

  1. Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus at REL. (PMID: 22170493) Ellinghaus E. … Franke A. (J. Invest. Dermatol. 2012) 3 46 64
  2. Confirmation of association of the REL locus with rheumatoid arthritis susceptibility in the UK population. (PMID: 19945995) Eyre S. … Barton A. (Ann. Rheum. Dis. 2010) 3 46 64
  3. Multiple common variants for celiac disease influencing immune gene expression. (PMID: 20190752) Dubois P.C. … van Heel D.A. (Nat. Genet. 2010) 3 46 64
  4. Genome-wide association identifies multiple ulcerative colitis susceptibility loci. (PMID: 20228799) McGovern D.P. … Seielstad M. (Nat. Genet. 2010) 3 46 64
  5. Association between anti-tumour necrosis factor treatment response and genetic variants within the TLR and NF{kappa}B signalling pathways. (PMID: 20448286) Potter C. … Isaacs J.D. (Ann. Rheum. Dis. 2010) 3 46 64

Products for REL Gene

Sources for REL Gene

Content
Loading form....