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REL REL proto-oncogene, NF-kB subunit [ Homo sapiens (human) ]

Gene ID: 5966, updated on 11-Oct-2020

Summary

Official Symbol
RELprovided by HGNC
Official Full Name
REL proto-oncogene, NF-kB subunitprovided by HGNC
Primary source
HGNC:HGNC:9954
See related
Ensembl:ENSG00000162924 MIM:164910
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
C-Rel
Summary
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]
Expression
Ubiquitous expression in bone marrow (RPKM 13.2), appendix (RPKM 8.6) and 25 other tissues See more
Orthologs

Genomic context

See REL in Genome Data Viewer
Location:
2p16.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (60881521..60931612)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (61108709..61171410)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, 7SL, cytoplasmic 632, pseudogene Neighboring gene long intergenic non-protein coding RNA 1185 Neighboring gene ribosomal protein L21 pseudogene 33 Neighboring gene RNA, U4 small nuclear 51, pseudogene Neighboring gene ribosomal protein S12 pseudogene 3 Neighboring gene non-POU domain containing, octamer-binding pseudogene 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
GeneReviews: Not available
A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).
GeneReviews: Not available
A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
GeneReviews: Not available
A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.
GeneReviews: Not available
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
GeneReviews: Not available
Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
GeneReviews: Not available
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
GeneReviews: Not available
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
GeneReviews: Not available
Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus at REL.
GeneReviews: Not available
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
GeneReviews: Not available
Multiple common variants for celiac disease influencing immune gene expression.
GeneReviews: Not available
REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.
GeneReviews: Not available

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat specifically associates with c-Rel promoter to downregulate c-Rel expression in T cells PubMed
tat HIV-1 Tat upregulates c-rel and RelA transcription factor binding to the CD28-responsive element in the IL-8 promoter, leading to super-induction of IL-8 PubMed
tat HIV-1 Tat interacts with the cooperative rel/AP1 complex, downregulating its transactivation activity and leading to a decrease in IL-2 gene transcription PubMed
tat The c-rel protein is a strong activator of HIV-1 gene expression suggesting a possible interaction with HIV-1 Tat, however results from co-expression experiments did not detect synergy with Tat activation PubMed
Vpr vpr Overexpression of REL is induced by HIV-1 Vpr in the transfected 293T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
I-kappaB kinase/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
NIK/NF-kappaB signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to stress IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inflammatory response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
innate immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of gene expression IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of interferon-beta production IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of neuron death IEA
Inferred from Electronic Annotation
more info
 
negative regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of I-kappaB kinase/NF-kappaB signaling IEP
Inferred from Expression Pattern
more info
PubMed 
positive regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
response to cytokine IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IMP
Inferred from Mutant Phenotype
more info
PubMed 
transcription factor complex IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
proto-oncogene c-Rel
Names
oncogene REL, avian reticuloendotheliosis
v-rel avian reticuloendotheliosis viral oncogene homolog

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001291746.2NP_001278675.1  proto-oncogene c-Rel isoform 2

    See identical proteins and their annotated locations for NP_001278675.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an in-frame exon in the central coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.
    Source sequence(s)
    AC010733, BC143885, BG036646, HY123671
    Consensus CDS
    CCDS74515.1
    UniProtKB/Swiss-Prot
    Q04864
    Related
    ENSP00000377989.3, ENST00000394479.3
    Conserved Domains (2) summary
    cd07933
    Location:8179
    RHD-n_c-Rel; N-terminal sub-domain of the Rel homology domain (RHD) of c-Rel
    pfam16179
    Location:187282
    RHD_dimer; Rel homology dimerisation domain
  2. NM_002908.4NP_002899.1  proto-oncogene c-Rel isoform 1

    See identical proteins and their annotated locations for NP_002899.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
    Source sequence(s)
    AC010733, BG036646, HY123671, X75042
    Consensus CDS
    CCDS1864.1
    UniProtKB/Swiss-Prot
    Q04864
    Related
    ENSP00000295025.7, ENST00000295025.12
    Conserved Domains (2) summary
    cd07933
    Location:8179
    RHD-n_c-Rel; N-terminal sub-domain of the Rel homology domain (RHD) of c-Rel
    pfam16179
    Location:187282
    RHD_dimer; Rel homology dimerization domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    60881521..60931612
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017004627.2XP_016860116.1  proto-oncogene c-Rel isoform X1

  2. XM_011533010.3XP_011531312.1  proto-oncogene c-Rel isoform X2

    Conserved Domains (2) summary
    pfam16179
    Location:89184
    RHD_dimer; Rel homology dimerization domain
    cl08275
    Location:281
    RHD-n; N-terminal sub-domain of the Rel homology domain (RHD)
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