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

    Gene ID: 5966, updated on 11-Apr-2024

    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; AllianceGenome:HGNC:9954
    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; IMD92; HIVEN86A
    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
    NEW
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    Try the new Transcript table

    Genomic context

    See REL in Genome Data Viewer
    Location:
    2p16.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (60881574..60931612)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (60887420..60937448)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (61108709..61158747)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15820 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15821 Neighboring gene RNA, 7SL, cytoplasmic 632, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15822 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15823 Neighboring gene REL divergent transcript Neighboring gene ribosomal protein L21 pseudogene 33 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15824 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15825 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:61108452-61109121 Neighboring gene Sharpr-MPRA regulatory region 13586 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
    Immunodeficiency 92
    MedGen: C5562039 OMIM: 619652 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1.
    EBI GWAS Catalog
    A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3).
    EBI GWAS Catalog
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    EBI GWAS Catalog
    A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus.
    EBI GWAS Catalog
    Genetics of rheumatoid arthritis contributes to biology and drug discovery.
    EBI GWAS Catalog
    Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
    EBI GWAS Catalog
    Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Genome-wide meta-analysis of psoriatic arthritis identifies susceptibility locus at REL.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    EBI GWAS Catalog
    REL, encoding a member of the NF-kappaB family of transcription factors, is a newly defined risk locus for rheumatoid arthritis.
    EBI GWAS Catalog

    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

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of NF-kappaB complex NAS
    Non-traceable Author Statement
    more info
    PubMed 
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    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)

    NEW Try the new Transcript table

    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/TrEMBL
      B4E1P2
      Related
      ENSP00000377989.4, ENST00000394479.4
      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, Q17RU2, Q2PNZ7, Q6LDY0
      UniProtKB/TrEMBL
      B4E1P2
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      60881574..60931612
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004627.3XP_016860116.1  proto-oncogene c-Rel isoform X1

      UniProtKB/TrEMBL
      A0A8V8TMU9, A0A8V8TPL7
      Related
      ENSP00000514191.1, ENST00000699191.1
    2. XM_011533010.4XP_011531312.1  proto-oncogene c-Rel isoform X2

      UniProtKB/TrEMBL
      B4E1P2
      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)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      60887420..60937448
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343267.1XP_054199242.1  proto-oncogene c-Rel isoform X1

      UniProtKB/TrEMBL
      A0A8V8TPL7
    2. XM_054343268.1XP_054199243.1  proto-oncogene c-Rel isoform X2