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GeneE
25 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.
REL
REL proto-oncogene, NF-kB subunit
Chromosome 2 Β· 2p16.1
NCBI Gene: 5966Ensembl: ENSG00000162924.16HGNC: HGNC:9954UniProt: A0A8V8TPL7
213PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription activator activity, RNA polymerase II-specificprotein bindingnegative regulation of gene expressionimmunodeficiency 92psoriasisrheumatoid arthritispsoriasis vulgaris
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

REL proto-oncogene, NF-kB subunit

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
immunodeficiency 92Open Targets
0.56Moderate
psoriasisOpen Targets
0.51Moderate
rheumatoid arthritisOpen Targets
0.48Moderate
psoriasis vulgarisOpen Targets
0.45Moderate
type 2 diabetes mellitusOpen Targets
0.39Weak
lymphoid neoplasmOpen Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.37Weak
bile duct carcinomaOpen Targets
0.37Weak
carcinoma of liver and intrahepatic biliary tractOpen Targets
0.37Weak
gliomatosis cerebriOpen Targets
0.37Weak
neuroinflammatory disorderOpen Targets
0.37Weak
Ovarian Endometrioid Adenocarcinoma with Squamous DifferentiationOpen Targets
0.37Weak
skin diseaseOpen Targets
0.36Weak
psoriatic arthritisOpen Targets
0.35Weak
atopic eczemaOpen Targets
0.33Weak
ACPA-positive rheumatoid arthritisOpen Targets
0.30Weak
diffuse large B-cell lymphomaOpen Targets
0.30Weak
IGA glomerulonephritisOpen Targets
0.30Weak
ulcerative colitisOpen Targets
0.30Weak
hepatocellular carcinomaOpen Targets
0.30Weak
Immunodeficiency 92UniProt
Pathogenic Variants7
NM_001291746.2(REL):c.88C>T (p.Arg30Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 30
NM_001291746.2(REL):c.910_911del (p.Cys304fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 304
NM_001291746.2(REL):c.923-140C>GPathogenic
not provided
β˜…β˜†β˜†β˜†2023
NM_001291746.2(REL):c.922+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_001291746.2(REL):c.923-184_923-183delPathogenic
not provided
β˜…β˜†β˜†β˜†2022
NM_001291746.2(REL):c.395-1G>APathogenic
Immunodeficiency 92
β˜†β˜†β˜†β˜†2021
NM_001291746.2(REL):c.535+1G>APathogenic
Immunodeficiency 92
β˜†β˜†β˜†β˜†2021
View on ClinVar β†—
Related Genes
NFATC1Protein interaction100%NFKBIBProtein interaction100%NFKBIEProtein interaction100%BTRCProtein interaction100%CD40Protein interaction100%TNFProtein interaction97%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
19%
Ovary
11%
Heart
8%
Liver
8%
Brain
5%
Gene Interaction Network
Click a node to explore
RELNFATC1NFKBIBNFKBIEBTRCCD40TNF
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q04864
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.42Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.24 [0.14–0.42]
RankingsWhere REL stands among ~20K protein-coding genes
  • #1,952of 20,598
    Most Researched213 Β· top 10%
  • #3,161of 5,498
    Most Pathogenic Variants7
  • #2,176of 17,882
    Most Constrained (LOEUF)0.42 Β· top quartile
Genes detectedREL
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
IL-10 constrains sphingolipid metabolism to limit inflammation.
PMID: 38383790
Nature Β· 2024
1.00
2
30 Years of NF-ΞΊB: A Blossoming of Relevance to Human Pathobiology.
PMID: 28086098
Cell Β· 2017
0.96
3
Relugolix, an oral gonadotropin-releasing hormone receptor antagonist, reduces endometriosis-associated pain compared with leuprorelin in Japanese women: a phase 3, randomized, double-blind, noninferiority study.
PMID: 34895700
Fertil Steril Β· 2022
0.92
4
Single-cell transcriptomic analyses of cardiac immune cells reveal that Rel-driven CD72-positive macrophages induce cardiomyocyte injury.
PMID: 34100920
Cardiovasc Res Β· 2022
0.88
5
NF-ΞΊB c-Rel is a critical regulator of TLR7-induced inflammation in psoriasis.
PMID: 39586195
EBioMedicine Β· 2024
0.84