HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
KIRREL1
kirre like nephrin family adhesion molecule 1
Chromosome 1 Β· 1q23.1
NCBI Gene: 55243Ensembl: ENSG00000183853.18HGNC: HGNC:15734UniProt: B4DN67
71PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingmyosin bindingglomerular filtrationcell-cell junction maintenancenephrotic syndrome, type 23Abnormality of the skeletal systemdiabetes mellitusalcohol drinking
✦AI Summary

KIRREL1 is a transmembrane cell adhesion molecule essential for glomerular filtration barrier integrity. Structurally, it belongs to the slit diaphragm protein family and contains immunoglobulin domains with conserved intrinsically unstructured regions 1. Functionally, KIRREL1 maintains stable podocyte architecture by connecting interdigitating foot processes through specialized slit diaphragm junctions 2. At the molecular level, KIRREL1 recruits SAV1 to cell-cell contact sites, promoting LATS1/2 activation by MST1/2 kinases to suppress YAP/TAZ oncoproteins, establishing a negative feedback loop in Hippo signaling 34. Clinically, KIRREL1 mutations cause steroid-resistant nephrotic syndrome through defective membrane trafficking and impaired podocyte function 2. Circulating anti-KIRREL1 autoantibodies, though rare, represent an emerging biomarker for autoimmune podocytopathies, though detection challenges persist due to transient serum levels and phase-dependent antibody dynamics 5. Beyond nephrology, KIRREL1 acts as a tumor suppressor in YAP/TAZ-active cancers; its expression positively correlates with favorable outcomes, and transgenic expression blocks hepatocellular carcinoma development 4. Recent epigenetic studies identify KIRREL1 dysregulation in colorectal cancer through methylation-sensitive enhancer elements 6. These findings position KIRREL1 as both a critical renal adhesion molecule and potential therapeutic target across glomerular and neoplastic diseases.

Sources cited
1
KIRREL1 is required for slit diaphragm integrity; mutations cause steroid-resistant nephrotic syndrome through impaired membrane trafficking
PMID: 31472902
2
KIRREL1 contains conserved immunoglobulin domains and intrinsically unstructured regions; evolutionarily distributed from nematodes to vertebrates
PMID: 34288970
3
KIRREL1 physically interacts with SAV1, recruits it to cell-cell contacts, and positively regulates Hippo pathway signaling
PMID: 35177623
4
KIRREL1 promotes LATS1/2 activation to suppress YAP/TAZ; has tumor-suppressor function in hepatocellular carcinoma models
PMID: 36044856
5
Anti-KIRREL1 autoantibodies occur in nephrotic syndrome; detection is challenging due to transient serum levels and phase-dependent dynamics
PMID: 40815258
6
Hypermethylation at CpG sites disrupts RUNX2 binding to inhibit KIRREL1 expression in colorectal cancer
PMID: 41719390
Disease Associationsβ“˜21
nephrotic syndrome, type 23Open Targets
0.46Moderate
Abnormality of the skeletal systemOpen Targets
0.40Weak
diabetes mellitusOpen Targets
0.33Weak
alcohol drinkingOpen Targets
0.32Weak
Decreased total leukocyte countOpen Targets
0.31Weak
refractive errorOpen Targets
0.29Weak
functional neutrophil defectOpen Targets
0.26Weak
myopiaOpen Targets
0.21Weak
Abnormality of refractionOpen Targets
0.20Weak
cervical carcinomaOpen Targets
0.19Weak
steroid-resistant nephrotic syndromeOpen Targets
0.18Weak
gastric cancerOpen Targets
0.09Suggestive
focal segmental glomerulosclerosisOpen Targets
0.08Suggestive
nephrotic syndromeOpen Targets
0.08Suggestive
familial idiopathic steroid-resistant nephrotic syndromeOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.07Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
nail-patella-like renal diseaseOpen Targets
0.06Suggestive
nephrotic syndrome, type 20Open Targets
0.06Suggestive
retinitis pigmentosaOpen Targets
0.06Suggestive
Nephrotic syndrome 23UniProt
Pathogenic Variants2
NM_018240.7(KIRREL1):c.1318C>T (p.Arg440Cys)Pathogenic
Nephrotic syndrome, type 23
β˜†β˜†β˜†β˜†2021β†’ Residue 440
NM_018240.7(KIRREL1):c.1718C>T (p.Ser573Leu)Pathogenic
Nephrotic syndrome, type 23
β˜†β˜†β˜†β˜†2021β†’ Residue 573
View on ClinVar β†—
Related Genes
GRB2Protein interaction98%NCK1Protein interaction98%FAT1Protein interaction92%CDH3Protein interaction78%TJP1Protein interaction78%NPHS2Protein interaction78%
Tissue Expression6 tissues
Ovary
100%
Lung
56%
Heart
54%
Liver
10%
Brain
7%
Bone Marrow
2%
Gene Interaction Network
Click a node to explore
KIRREL1GRB2NCK1FAT1CDH3TJP1NPHS2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96J84
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.41Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.30 [0.21–0.41]
RankingsWhere KIRREL1 stands among ~20K protein-coding genes
  • #6,641of 20,598
    Most Researched71
  • #4,379of 5,498
    Most Pathogenic Variants2
  • #2,133of 17,882
    Most Constrained (LOEUF)0.41 Β· top quartile
Genes detectedKIRREL1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Podocytopathies.
PMID: 41381622
Nat Rev Dis Primers Β· 2025
1.00
2
Anti-nephrin, anti-podocin and anti-Kirrel1 antibodies: biological challenges and clinical implications.
PMID: 40815258
Nephrol Dial Transplant Β· 2026
0.90
3
Evolutionary conservation of intrinsically unstructured regions in slit-diaphragm proteins.
PMID: 34288970
PLoS One Β· 2021
0.80
4
Transmembrane protein KIRREL1 regulates Hippo signaling via a feedback loop and represents a therapeutic target in YAP/TAZ-active cancers.
PMID: 36044856
Cell Rep Β· 2022
0.70
5
Systematic analysis of functional genetic and epigenetic variants in colorectal cancer.
PMID: 41719390
Sci Adv Β· 2026
0.60