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GeneE
50 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
RELA
RELA proto-oncogene, NF-kB subunit
Chromosome 11 Β· 11q13.1
NCBI Gene: 5970Ensembl: ENSG00000173039.20HGNC: HGNC:9955UniProt: A0A087X0W8
1,681PubMed Papers
21Diseases
1Drugs
41Pathogenic Variants
FUNCTIONAL ROLE
Hub GeneTranscription Factor
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
Clinical TrialsOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cellular response to interleukin-1positive regulation of interleukin-1 beta productionpositive regulation of interleukin-6 productionpositive regulation of interleukin-8 productionmucocutaneous ulceration, chronicneurodegenerative diseaseAlzheimer diseaseParkinson disease
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

RELA proto-oncogene, NF-kB subunit

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
mucocutaneous ulceration, chronicOpen Targets
0.63Moderate
neurodegenerative diseaseOpen Targets
0.47Moderate
Alzheimer diseaseOpen Targets
0.39Weak
Parkinson diseaseOpen Targets
0.38Weak
multiple sclerosisOpen Targets
0.37Weak
inborn error of immunityOpen Targets
0.37Weak
severe acute respiratory syndromeOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.37Weak
lysosomal storage diseaseOpen Targets
0.37Weak
Duchenne muscular dystrophyOpen Targets
0.30Weak
gastric adenocarcinomaOpen Targets
0.29Weak
Rare pervasive developmental disorderOpen Targets
0.27Weak
neoplasmOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.11Weak
breast cancerOpen Targets
0.11Weak
glioblastoma multiformeOpen Targets
0.11Weak
melanomaOpen Targets
0.11Weak
gastric cancerOpen Targets
0.11Weak
infectionOpen Targets
0.11Weak
nasopharyngeal carcinomaOpen Targets
0.10Weak
Autoinflammatory disease, familial, Behcet-like 3UniProt
Pathogenic Variants41
NM_021975.4(RELA):c.261_262dup (p.His88fs)Likely pathogenic
Mucocutaneous ulceration, chronic|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 88
NM_021975.4(RELA):c.706C>T (p.Arg236Ter)Pathogenic
not provided|RELA-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 236
NM_021975.4(RELA):c.592C>T (p.Arg198Ter)Pathogenic
not provided|Mucocutaneous ulceration, chronic
β˜…β˜…β˜†β˜†2025β†’ Residue 198
NM_021975.4(RELA):c.1114C>T (p.Gln372Ter)Pathogenic
Mucocutaneous ulceration, chronic|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 372
NM_021975.4(RELA):c.336-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_021975.4(RELA):c.31del (p.Ala11fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 11
NM_021975.4(RELA):c.19del (p.Leu7fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 7
NM_021975.4(RELA):c.35-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_021975.4(RELA):c.350dup (p.Ile118fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 118
NM_021975.4(RELA):c.1288C>T (p.Gln430Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 430
NM_021975.4(RELA):c.1044dup (p.Tyr349fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 349
NM_021975.4(RELA):c.29del (p.Pro10fs)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 10
NM_021975.4(RELA):c.408dup (p.Asn137fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 137
NM_021975.4(RELA):c.120dup (p.Arg41fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 41
NM_021975.4(RELA):c.736C>T (p.Arg246Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 246
NM_021975.4(RELA):c.431del (p.Pro144fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 144
NM_021975.4(RELA):c.1295_1308del (p.Gly432fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 432
NM_021975.4(RELA):c.809_812del (p.Met270fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 270
NM_021975.4(RELA):c.618C>A (p.Cys206Ter)Likely pathogenic
Mucocutaneous ulceration, chronic
β˜…β˜†β˜†β˜†2024β†’ Residue 206
NM_021975.4(RELA):c.1153C>T (p.Gln385Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 385
View on ClinVar β†—
Drug Targets1
EDASALONEXENTPhase III
Nuclear factor NF-kappa-B complex inhibitor
Related Genes
PARP1Protein interaction100%MAP3K8Protein interaction100%SFNProtein interaction100%NR3C1Protein interaction100%IFNB1Protein interaction100%KPNA1Protein interaction100%
Tissue Expression6 tissues
Lung
100%
Ovary
79%
Bone Marrow
77%
Liver
74%
Heart
41%
Brain
38%
Gene Interaction Network
Click a node to explore
RELAPARP1MAP3K8SFNNR3C1IFNB1KPNA1
PROTEIN STRUCTURE
Preparing viewer…
PDB6NV2 Β· 1.13 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.40Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.26 [0.17–0.40]
RankingsWhere RELA stands among ~20K protein-coding genes
  • #69of 20,598
    Most Researched1,681 Β· top 1%
  • #1,501of 5,498
    Most Pathogenic Variants41
  • #2,004of 17,882
    Most Constrained (LOEUF)0.40 Β· top quartile
Genes detectedRELA
Sources retrieved50 papers
Response timeβ€”
πŸ“„ Sources
50β–Ό
1
Optical Pooled Screens in Human Cells.
PMID: 31626775
Cell Β· 2019
1.00
2
High-speed fluorescence image-enabled cell sorting.
PMID: 35050652
Science Β· 2022
0.98
3
Mitochondrial genome transfer drives metabolic reprogramming in adjacent colonic epithelial cells promoting TGFΞ²1-mediated tumor progression.
PMID: 38688896
Nat Commun Β· 2024
0.96
4
Looking Down on NF-ΞΊB.
PMID: 32393609
Mol Cell Biol Β· 2020
0.94
5
RELA-mediated upregulation of LINC03047 promotes ferroptosis in silica-induced pulmonary fibrosis via SLC39A14.
PMID: 39111583
Free Radic Biol Med Β· 2024
0.92