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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]

CIViC summary for REL Gene

GeneCards Summary for REL Gene

REL (REL Proto-Oncogene, NF-KB Subunit) is a Protein Coding gene. Diseases associated with REL include Reticuloendotheliosis and B-Cell Lymphomas. Among its related pathways are Immune response NFAT in immune response and Development_TGF-beta 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

Additional gene information 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
GH02H060880 1.7 FANTOM5 ENCODE dbSUPER 21 +2.2 2164 7 PKNOX1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 REL PUS10 AHSA2 LOC339803 GC02P060883
GH02H061534 1.7 FANTOM5 ENCODE dbSUPER 20.8 +655.9 655896 5 HNRNPUL1 HDGF PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 CCT4 USP34 XPO1 LOC339803 AHSA2 REL ENSG00000232713 PAPOLG ENSG00000236498 LOC105377633
GH02H060806 1.5 FANTOM5 Ensembl ENCODE 22.8 -74.4 -74391 1 HDAC1 PKNOX1 ATF1 TBL1XR1 ARNT TCF12 GATA2 EGR1 RUNX3 IKZF2 REL LINC01185 PAPOLG GC02M060804
GH02H060525 3.3 VISTA FANTOM5 Ensembl ENCODE dbSUPER 9.9 -349.9 -349889 12 PKNOX1 FOXA2 FEZF1 ZNF2 FOS RUNX3 JUNB TSHZ1 MIER2 NFIL3 ENSG00000233953 USP34 REL LOC105377633 GC02P060545 GC02P060512
GH02H060543 2.9 FANTOM5 Ensembl ENCODE dbSUPER 8.9 -330.7 -330742 14 PKNOX1 ARID4B SIN3A FEZF1 ZNF2 YY1 GLIS2 ZNF143 KLF7 RUNX3 PAPOLG ENSG00000233953 AHSA2 PUS10 MIR4432HG RNU1-32P REL BCL11A GC02P060545
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000117625 1405 5001 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 CBX5 ZNF143

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

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for REL Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

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

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.

Phenotypes From GWAS Catalog for REL Gene

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

CRISPR 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
  • Applied Biological Materials Clones for REL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for REL gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 2
extracellular 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,IBA --
genes like me logo Genes that share ontologies with REL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for REL Gene

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
Triptolide Investigational Pharma IL-2/MMP-3/MMP7/MMP19 inhibitor 7
JSH-23 Pharma NF-κB inhibitor 0
QNZ (EVP4593) Pharma Potent NF-κB inhibitor 0

(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

Drug Products

Transcripts for REL Gene

Unigene Clusters for REL Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for REL
  • Applied Biological Materials Clones for REL
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for REL Gene

  • Intestine(4.4)
  • Blood(3.2)
  • Spleen(3.2)
  • Lymph node(2.6)
  • Lung(2.5)
  • Nervous system(2.5)
  • Heart(2.4)
  • Bone marrow(2.3)
  • Kidney(2.2)
  • Liver(2.2)
  • Muscle(2.2)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with REL: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.66 (n)
dog
(Canis familiaris)
Mammalia REL 33 34
  • 89.69 (n)
cow
(Bos Taurus)
Mammalia REL 33 34
  • 89.46 (n)
mouse
(Mus musculus)
Mammalia Rel 33 16 34
  • 82.22 (n)
rat
(Rattus norvegicus)
Mammalia Rel 33
  • 78.27 (n)
oppossum
(Monodelphis domestica)
Mammalia REL 34
  • 66 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia REL 34
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves REL 33 34
  • 62.79 (n)
lizard
(Anolis carolinensis)
Reptilia REL 34
  • 49 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia rel-A 33
zebrafish
(Danio rerio)
Actinopterygii rel 34
  • 43 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Rel 35
  • 37 (a)
dl 34 35
  • 16 (a)
ManyToMany
Dif 34 35
  • 15 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.770 33
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
rs1000056584 -- 60,908,877(+) TGAAA(A/G)GGAAT intron-variant
rs1000079605 -- 60,914,977(+) TAGGC(A/G)CCCGC intron-variant
rs1000119842 -- 60,908,611(+) AAAAA(A/G)TTTGT intron-variant
rs1000168436 -- 60,924,943(+) TGGTA(A/C)TTCTG utr-variant-3-prime
rs1000343602 -- 60,919,805(+) ATCCA(A/C)CTGCC 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

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

Disorder Aliases PubMed IDs
reticuloendotheliosis
  • reticuloendotheliosis, x-linked
b-cell lymphomas
  • b-cell lymphoma
diffuse large b-cell lymphoma
  • dlbcl
hodgkin lymphoma
  • hodgkin's lymphoma
lymphoma
  • lymphoid cancer
- 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 (The Journal of investigative dermatology 2012) 3 45 60
  2. Multiple common variants for celiac disease influencing immune gene expression. (PMID: 20190752) Dubois PC … van Heel DA (Nature genetics 2010) 3 45 60
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 45 60
  4. Common single nucleotide polymorphisms in immunoregulatory genes and multiple myeloma risk among women in Connecticut. (PMID: 20568250) Lee KM … Lan Q (American journal of hematology 2010) 3 45 60
  5. Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. (PMID: 20453842) Stahl EA … Plenge RM (Nature genetics 2010) 3 45 60

Products for REL Gene

  • Addgene plasmids for REL

Sources for REL Gene

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