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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CGNL1
cingulin like 1
Chromosome 15 Β· 15q21.3
NCBI Gene: 84952Ensembl: ENSG00000128849.12HGNC: HGNC:25931UniProt: Q0VF96
43PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
cell junctionnegative regulation of small GTPase mediated signal transductionprotein-containing complexnegative regulation of stress fiber assemblyalcohol drinkingaromatase excess syndromediabetes mellitusneurodegenerative disease
✦AI Summary

CGNL1 (cingulin like 1) is a junctional protein that anchors cell-cell junctions to actin-based cytoskeletons, particularly at tight junctions and adherens junctions 1. The protein stabilizes Ve-cadherin association with the actin cytoskeleton and regulates focal adhesion assembly through vinculin and paxillin recruitment 1. CGNL1 is enriched in endothelial cells during vascular growth and is crucial for multicellular tubule formation and neovascular stability in vivo 1. Beyond vascular development, CGNL1 plays unexpected roles in metabolic regulation and disease pathogenesis. In hypertension, CGNL1 knockout prevents angiotensin II-induced hypertension by uncoupling this signaling from sodium transporter activation (NHE3 and NCC) in kidney tubules 2. CGNL1 expression is altered in multiple disease contexts: it serves as a diagnostic marker elevated in pro-inflammatory fibroblasts of diabetic foot ulcers 3, appears in prognostic models for oral squamous cell carcinoma 45, and may suppress pancreatic cancer progression through circRNA-mediated apoptosis pathways 6. Additionally, CGNL1 duplications have been associated with schizophrenia susceptibility 7. These findings suggest CGNL1 functions beyond structural junctional roles, integrating cytoskeletal organization with signaling cascades affecting vascular integrity, kidney physiology, inflammation, and cancer progression.

Sources cited
1
CGNL1 anchors junctions to actin cytoskeleton, stabilizes Ve-cadherin, regulates focal adhesions, and is essential for vascular growth and neovascular stability
PMID: 29016873
2
CGNL1 knockout prevents angiotensin II-induced hypertension by uncoupling signaling from sodium transporter activation in kidney tubules
PMID: 40204428
3
CGNL1 is a diagnostic marker elevated in pro-inflammatory fibroblasts of diabetic foot ulcers
PMID: 39102374
4
CGNL1 is included in histone lysine lactylation-based prognostic models for oral squamous cell carcinoma
PMID: 39503345
5
CGNL1 is part of a lactic acid metabolism-based prognostic model for oral squamous cell carcinoma
PMID: 38677972
6
CircRNA-CGNL1 suppresses pancreatic cancer progression through NUDT4-HDAC4-RUNX2-GAMT-mediated apoptosis
PMID: 38297362
7
CGNL1 duplications are associated with schizophrenia susceptibility in CNV analysis
PMID: 24163246
Disease Associationsβ“˜21
alcohol drinkingOpen Targets
0.43Moderate
aromatase excess syndromeOpen Targets
0.37Weak
diabetes mellitusOpen Targets
0.35Weak
neurodegenerative diseaseOpen Targets
0.34Weak
type 2 diabetes mellitusOpen Targets
0.31Weak
pituitary gland diseaseOpen Targets
0.30Weak
Abnormality of the gastrointestinal tractOpen Targets
0.30Weak
obesityOpen Targets
0.25Weak
open-angle glaucomaOpen Targets
0.19Weak
male reproductive organ cancerOpen Targets
0.19Weak
HematemesisOpen Targets
0.19Weak
glaucomaOpen Targets
0.12Weak
primary ovarian insufficiencyOpen Targets
0.12Weak
cataractOpen Targets
0.11Weak
androgenetic alopeciaOpen Targets
0.10Weak
sign or symptomOpen Targets
0.10Weak
alopeciaOpen Targets
0.09Suggestive
placental retentionOpen Targets
0.08Suggestive
head and neck squamous cell carcinomaOpen Targets
0.06Suggestive
insomniaOpen Targets
0.05Suggestive
Aromatase excess syndromeUniProt
Pathogenic Variants1
NM_032866.5(CGNL1):c.2322T>C (p.His774=)Likely pathogenic
not provided
β˜†β˜†β˜†β˜†β†’ Residue 774
View on ClinVar β†—
Related Genes
ARHGEF2Protein interaction99%TJP1Protein interaction98%TMOD3Protein interaction91%RACGAP1Protein interaction84%PLEKHA7Protein interaction83%CYP19A1Protein interaction77%
Tissue Expression6 tissues
Liver
100%
Heart
83%
Ovary
19%
Lung
18%
Brain
13%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
CGNL1ARHGEF2TJP1TMOD3RACGAP1PLEKHA7CYP19A1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q0VF96
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.09LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.93 [0.80–1.09]
RankingsWhere CGNL1 stands among ~20K protein-coding genes
  • #9,702of 20,598
    Most Researched43
  • #5,139of 5,498
    Most Pathogenic Variants1
  • #11,051of 17,882
    Most Constrained (LOEUF)1.09
Genes detectedCGNL1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The knock-out of paracingulin attenuates hypertension through modulation of kidney ion transport.
PMID: 40204428
Am J Physiol Renal Physiol Β· 2025
1.00
2
Role of a novel circRNA-CGNL1 in regulating pancreatic cancer progression via NUDT4-HDAC4-RUNX2-GAMT-mediated apoptosis.
PMID: 38297362
Mol Cancer Β· 2024
0.90
3
Identification of CGNL1 as a diagnostic marker in fibroblasts of diabetic foot ulcers: Insights from single cell RNA sequencing and bulk sequencing data.
PMID: 39102374
Int J Immunopathol Pharmacol Β· 2024
0.80
4
Histone Lysine Lactylation (Kla)-induced BCAM Promotes OSCC Progression and Cis-Platinum Resistance.
PMID: 39503345
Oral Dis Β· 2025
0.70
5
Cgnl1, an endothelial junction complex protein, regulates GTPase mediated angiogenesis.
PMID: 29016873
Cardiovasc Res Β· 2017
0.60