RELA — RELA proto-oncogene, NF-kB subunit

50 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

1,681PubMed Papers

#69 · top 0.4% of 19K genes

21Diseases

top 7%

1Drugs

top 75%

42Pathogenic Variants

top 27%

Clinical TrialsOMIM Disease GeneHub GeneTranscription FactorHighly StudiedLandmark Gene

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

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RELA proto-oncogene, NF-kB subunit

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.

Disease Associations21

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 Variants42

NM_021975.4(RELA):c.261_262dup (p.His88fs)Likely pathogenic

Mucocutaneous ulceration, chronic|not provided

★★☆☆2025→ Residue 88

NM_021975.4(RELA):c.706C>T (p.Arg236Ter)Pathogenic

not provided|RELA-related disorder

★★☆☆2025→ Residue 236

NM_021975.4(RELA):c.592C>T (p.Arg198Ter)Pathogenic

not provided|Mucocutaneous ulceration, chronic

★★☆☆2025→ Residue 198

NM_021975.4(RELA):c.1114C>T (p.Gln372Ter)Pathogenic

Mucocutaneous ulceration, chronic|not provided

★★☆☆2024→ Residue 372

NM_021975.4(RELA):c.336-1G>ALikely pathogenic

not provided

★☆☆☆2025

NM_021975.4(RELA):c.31del (p.Ala11fs)Pathogenic

not provided

★☆☆☆2025→ Residue 11

NM_021975.4(RELA):c.19del (p.Leu7fs)Pathogenic

not provided

★☆☆☆2025→ Residue 7

NM_021975.4(RELA):c.35-2A>GLikely pathogenic

not provided

★☆☆☆2025

NM_021975.4(RELA):c.350dup (p.Ile118fs)Pathogenic

not provided

★☆☆☆2025→ Residue 118

NM_021975.4(RELA):c.1288C>T (p.Gln430Ter)Pathogenic

not provided

★☆☆☆2025→ Residue 430

NM_021975.4(RELA):c.1044dup (p.Tyr349fs)Pathogenic

not provided

★☆☆☆2025→ Residue 349

NM_021975.4(RELA):c.408dup (p.Asn137fs)Pathogenic

not provided

★☆☆☆2025→ Residue 137

NM_021975.4(RELA):c.29del (p.Pro10fs)Likely pathogenic

not provided

★☆☆☆2025→ Residue 10

NM_021975.4(RELA):c.120dup (p.Arg41fs)Pathogenic

not provided

★☆☆☆2024→ Residue 41

NM_021975.4(RELA):c.736C>T (p.Arg246Ter)Pathogenic

not provided

★☆☆☆2024→ Residue 246

NM_021975.4(RELA):c.431del (p.Pro144fs)Pathogenic

not provided

★☆☆☆2024→ Residue 144

NM_021975.4(RELA):c.506C>G (p.Ser169Ter)Likely pathogenic

Mucocutaneous ulceration, chronic

★☆☆☆2024→ Residue 169

NM_021975.4(RELA):c.1295_1308del (p.Gly432fs)Pathogenic

not provided

★☆☆☆2024→ Residue 432

NM_021975.4(RELA):c.809_812del (p.Met270fs)Pathogenic

not provided

★☆☆☆2024→ Residue 270

NM_021975.4(RELA):c.618C>A (p.Cys206Ter)Likely pathogenic

Mucocutaneous ulceration, chronic

★☆☆☆2024→ Residue 206

Drug Targets01

EDASALONEXENTPhase III

Nuclear factor NF-kappa-B complex inhibitor

Tissue Expression6 tissues

Lung

100%

Ovary

79%

Bone Marrow

77%

Liver

74%

Heart

41%

Brain

38%

Gene Interaction Network6 neighbors

Click a node to explore

Structure88 PDB hits

Preparing viewer…

PDB6NV2 · 1.13 Å · X-ray

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

0.40Moderately Constrained

pLIⓘ

1.00Intolerant

Observed/Expected LoF0.26 [0.17–0.40]

Rankings3 dim

Where RELA stands among ~20K protein-coding genes

#69of 20,598
Most Researched1,681 · top 1%
#1,488of 5,509
Most Pathogenic Variants42
#2,004of 17,882
Most Constrained (LOEUF)0.40 · top quartile