RELA RELA proto-oncogene, NF-kB subunit
Gene ID: 5970, updated on 22-Apr-2024Gene type: protein coding
Also known as: p65; CMCU; NFKB3; AIF3BL3
- See all available tests in GTR for this gene
- Go to complete Gene record for RELA
- Go to Variation Viewer for RELA variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
Mucocutaneous ulceration, chronic | See labs |
Genomic context
- Location:
- 11q13.1
- Sequence:
- Chromosome: 11; NC_000011.10 (65653601..65663857, complement)
- Total number of exons:
- 13
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for RELA variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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