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GeneE
2 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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LRRC14
leucine rich repeat containing 14
Chromosome 8 · 8q24.3
NCBI Gene: 9684Ensembl: ENSG00000160959.9HGNC: HGNC:20419UniProt: Q15048
19PubMed Papers
19Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingkinase bindingnegative regulation of toll-like receptor signaling pathwaycytoplasmattention deficit hyperactivity disorderintelligencerisk-taking behaviourmathematical ability
✦AI Summary

Based on limited published evidence, LRRC14 is a leucine-rich repeat protein that functions as a negative regulator of Toll-like receptor-mediated NF-κB signaling. LRRC14 attenuates inflammatory responses by binding to the HLH domain of IKBKB, disrupting IKK core complex formation and preventing NF-κB phosphorylation and activation 1. The gene is subject to complex regulation involving bidirectional promoter control and alternative splicing 2. LRRC14 operates as a checkpoint mechanism to prevent excessive inflammation while maintaining innate immune responses.

Sources cited
1
LRRC14 negatively regulates TLR-mediated NF-κB signaling by binding IKBKB and disrupting IKK complex formation, preventing inflammatory cytokine production
PMID: 27426725
2
LRRC14 expression is regulated by an evolutionary conserved bidirectional promoter shared with RECQL4, involving multiple promoters and alternative splicing with tissue-specific expression patterns
PMID: 19720120
⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ19
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
intelligenceOpen Targets
0.06Suggestive
risk-taking behaviourOpen Targets
0.06Suggestive
mathematical abilityOpen Targets
0.02Suggestive
OsteopeniaOpen Targets
0.01Suggestive
musculoskeletal system diseaseOpen Targets
0.01Suggestive
joint diseaseOpen Targets
0.01Suggestive
Dravet syndromeOpen Targets
0.01Suggestive
glaucomaOpen Targets
0.01Suggestive
osteoarthritis, hipOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.00Suggestive
familial atrioventricular septal defectOpen Targets
0.00Suggestive
asthmaOpen Targets
0.00Suggestive
HistiocytosisOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.00Suggestive
ovarian serous cystadenocarcinomaOpen Targets
0.00Suggestive
uterine corpus endometrial carcinomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
IKBKBProtein interaction86%CHUKProtein interaction86%E4F1Protein interaction75%ALG12Protein interaction74%GPR108Shared pathway50%SMPDL3BShared pathway25%
Tissue Expression6 tissues
Ovary
100%
Liver
83%
Lung
72%
Bone Marrow
67%
Brain
59%
Heart
59%
Gene Interaction Network
Click a node to explore
LRRC14IKBKBCHUKE4F1ALG12GPR108SMPDL3B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q15048
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.47–1.04]
RankingsWhere LRRC14 stands among ~20K protein-coding genes
  • #14,459of 20,598
    Most Researched19
  • #10,407of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedLRRC14
Sources retrieved2 papers
Response time—
📄 Sources
2
1
LRRC14 attenuates Toll-like receptor-mediated NF-κB signaling through disruption of IKK complex.
PMID: 27426725
Exp Cell Res · 2016
1.00
2
The intergenic region between the Mouse Recql4 and Lrrc14 genes functions as an evolutionary conserved bidirectional promoter.
PMID: 19720120
Gene · 2010
0.50