Gene

RELA

Species
Homo sapiens
Symbol
RELA
Name
RELA proto-oncogene, NF-kB subunit
Synonyms
  • AIF3BL3
  • CMCU
Biotype
protein coding gene
Automated Description
Enables several functions, including DNA binding activity; DNA-binding transcription factor activity, RNA polymerase II-specific; and enzyme binding activity. Involved in several processes, including cell surface receptor signaling pathway; regulation of DNA-templated transcription; and regulation of signal transduction. Acts upstream of or within nucleotide-binding activity oligomerization domain containing 2 signaling pathway and positive regulation of NF-kappaB transcription factor activity. Located in cytosol. Part of NF-kappaB p50/p65 complex and transcription regulator complex. Is active in chromatin; glutamatergic synapse; and nucleus. Implicated in ductal carcinoma in situ; lung non-small cell carcinoma; lymphoma; and renal cell carcinoma. Biomarker of several diseases, including carcinoma (multiple); cervix uteri carcinoma in situ; middle ear disease (multiple); obstructive sleep apnea; and prostate disease (multiple).
RGD Description
NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcription of specific genes. NF-kappa-B is composed of NFKB1 or NFKB2 bound to either REL, RELA, or RELB. The most abundant form of NF-kappa-B is NFKB1 complexed with the product of this gene, RELA. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR24169
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Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
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    Disease Associations

    Cases where the expected disease association was NOT found
    Cell color indicative of annotation volume
    No data available

    Alleles and Variants

    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
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      Transgenic Alleles

      Species
      (carrying the transgene)
      Allele symbol
      Transgenic construct
      Expressed components
      Knock-down targets
      Regulatory regions
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        Models

        Model name
        Experimental condition
        Associated Human Diseases
        Associated Phenotypes
        Modifier
        Source
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          Sequence Feature Viewer

          Genome location
          Assembly version
          GRCh38
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          Data currently unavailable; sequence viewer under construction

          Sequence Details

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          Expression

          Primary Sources
          None
          Other Sources
          Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

          Molecular Interactions

          RELA molecule type
          Interactor gene
          Interactor species
          Interactor molecule type
          Detection methods
          Source
          Reference
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            Genetic Interactions

            RELA role
            RELA genetic perturbation
            Interactor gene
            Interactor species
            Interactor role
            Interactor genetic perturbation
            Interaction type
            Phenotype or trait
            Source
            Reference
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