Human Gene REL (ENST00000394479.4_7) from GENCODE V47lift37
  Description: REL proto-oncogene, NF-kB subunit, transcript variant 2 (from RefSeq NM_001291746.2)
Gencode Transcript: ENST00000394479.4_7
Gencode Gene: ENSG00000162924.16_14
Transcript (Including UTRs)
   Position: hg19 chr2:61,108,709-61,158,747 Size: 50,039 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr2:61,108,976-61,149,670 Size: 40,695 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr2:61,108,709-61,158,747)mRNA (may differ from genome)Protein (587 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: REL_HUMAN
DESCRIPTION: RecName: Full=Proto-oncogene c-Rel;
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.
SUBUNIT: 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.
INTERACTION: Q8N668:COMMD1; NbExp=3; IntAct=EBI-307352, EBI-1550112;
SUBCELLULAR LOCATION: Nucleus (By similarity).
SIMILARITY: Contains 1 RHD (Rel-like) domain.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/RELID322.html";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: REL
Diseases sorted by gene-association score: reticuloendotheliosis (44), b-cell lymphomas (24), diffuse large b-cell lymphoma (18), hodgkin lymphoma (12), lymphoma (6), chromosome 2p16.1-p15 deletion syndrome (6), mediastinal malignant lymphoma (5), mediastinal gray zone lymphoma (5), colitis (4), ulcerative colitis (4), rheumatoid arthritis (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 12.17 RPKM in Cells - EBV-transformed lymphocytes
Total median expression: 103.40 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -138.60267-0.519 Picture PostScript Text
3' UTR -2196.009077-0.242 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013783 - Ig-like_fold
IPR014756 - Ig_E-set
IPR002909 - IPT_TIG_rcpt
IPR000451 - NF_Rel_dor
IPR008967 - p53-like_TF_DNA-bd
IPR011539 - RHD

Pfam Domains:
PF00554 - Rel homology DNA-binding domain
PF16179 - Rel homology dimerisation domain

SCOP Domains:
81296 - E set domains
49417 - p53-like transcription factors

ModBase Predicted Comparative 3D Structure on Q04864
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006954 inflammatory response
GO:0007249 I-kappaB kinase/NF-kappaB signaling
GO:0010629 negative regulation of gene expression
GO:0032688 negative regulation of interferon-beta production
GO:0034097 response to cytokine
GO:0038061 NIK/NF-kappaB signaling
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0045087 innate immune response
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:1901215 negative regulation of neuron death

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0033256 I-kappaB/NF-kappaB complex


-  Descriptions from all associated GenBank mRNAs
  AK303926 - Homo sapiens cDNA FLJ59223 complete cds, highly similar to C-Rel proto-oncogene protein.
BC051005 - Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog (avian), mRNA (cDNA clone IMAGE:6304569), partial cds.
BC143885 - Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog (avian), mRNA (cDNA clone MGC:177418 IMAGE:9052401), complete cds.
BC117191 - Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog (avian), mRNA (cDNA clone MGC:150800 IMAGE:40125742), complete cds.
JD141321 - Sequence 122345 from Patent EP1572962.
X75042 - H.sapiens rel proto-oncogene mRNA.
JD036829 - Sequence 17853 from Patent EP1572962.
JD336716 - Sequence 317740 from Patent EP1572962.
JD186462 - Sequence 167486 from Patent EP1572962.
JD078659 - Sequence 59683 from Patent EP1572962.
JD059261 - Sequence 40285 from Patent EP1572962.
JD420643 - Sequence 401667 from Patent EP1572962.
AB464350 - Synthetic construct DNA, clone: pF1KB7844, Homo sapiens REL gene for v-rel reticuloendotheliosis viral oncogene homolog, without stop codon, in Flexi system.
HQ258627 - Synthetic construct Homo sapiens clone IMAGE:100073181 Unknown protein gene, encodes complete protein.
KJ901700 - Synthetic construct Homo sapiens clone ccsbBroadEn_11094 REL gene, encodes complete protein.
AK123369 - Homo sapiens cDNA FLJ41375 fis, clone BRCAN2007700.
LF213595 - JP 2014500723-A/21098: Polycomb-Associated Non-Coding RNAs.
LF213593 - JP 2014500723-A/21096: Polycomb-Associated Non-Coding RNAs.
MA449172 - JP 2018138019-A/21098: Polycomb-Associated Non-Coding RNAs.
MA449170 - JP 2018138019-A/21096: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q04864 (Reactome details) participates in the following event(s):

R-HSA-1168638 Activated IKK phosphorylates I-kappaB
R-HSA-1168642 SCF with beta-TrCP1 or beta-TrCP2 binds NF-kappaB:phospho-IkB
R-HSA-1169091 Activation of NF-kappaB in B cells
R-HSA-1168372 Downstream signaling events of B Cell Receptor (BCR)
R-HSA-983705 Signaling by the B Cell Receptor (BCR)
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000394479.1, ENST00000394479.2, ENST00000394479.3, NM_001291746, Q04864, Q17RU2, Q2PNZ7, Q6LDY0, REL_HUMAN, uc318wrh.1, uc318wrh.2
UCSC ID: ENST00000394479.4_7
RefSeq Accession: NM_001291746.2
Protein: Q04864 (aka REL_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.