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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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CELSR2
cadherin EGF LAG seven-pass G-type receptor 2
Chromosome 1 · 1p13.3
NCBI Gene: 1952Ensembl: ENSG00000143126.8HGNC: HGNC:3231UniProt: Q9HCU4
77PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Receptor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
regulation of cell-cell adhesionregulation of DNA-templated transcriptionWnt signaling pathwayneural plate anterior/posterior regionalizationcoronary artery diseaseHypercholesterolemiamyocardial infarctionmetabolic disease
✦AI Summary

CELSR2 (cadherin EGF LAG seven-pass G-type receptor 2), also known as ADGRC2, is an adhesion G protein-coupled receptor with critical roles in nervous system development and axon regeneration. 1 CELSR2 functions as a seven-transmembrane receptor involved in cell-cell signaling, with established roles in ciliogenesis and neural development, including neuron migration and axon guidance. 2 The receptor engages GαS G proteins through multiple activation mechanisms, including both autoproteolytic cleavage-dependent and cleavage-independent pathways. 3 Mechanistically, CELSR2 negatively regulates motor axon regeneration; its inactivation promotes axon fasciculation and regeneration in cultured spinal explants and intact mice following brachial plexus injury, accompanied by increased GTP-bound Rac1 and Cdc42 levels and elevated JNK/c-Jun signaling. 4 CELSR2 has been identified as a receptor for the p53-regulated protein Reprimo, which induces apoptosis through the Hippo-YAP/TAZ-p73 pathway, implicating CELSR2 in tumor suppression. 5 Clinically, CELSR2 variants are associated with calcific aortic stenosis risk across multiple ancestry groups, with genome-wide significant associations identified in large multiancestry cohorts. 6 7 CELSR2 has also been identified as a candidate gene in ciliopathies, including potential involvement in Meckel-Gruber syndrome. 8

Sources cited
1
Celsr2 inactivation promotes motor axon fasciculation and regeneration through Rac1/Cdc42/JNK signaling; Celsr2 conditional knockout mice show improved functional recovery after nerve injury
PMID: 34983065
2
CELSR2 identified as novel candidate gene linked to ciliopathies with established connections to ciliogenesis
PMID: 27894351
3
CELSR2-SORT1 locus associated with calcific aortic stenosis at genome-wide significance in meta-analysis of 653,867 participants
PMID: 37038246
4
CELSR2 (ADGRC2) classified as adhesion G protein-coupled receptor with unified nomenclature
PMID: 25713288
5
CELSR2 identified as receptor for Reprimo that mediates extrinsic apoptosis through Hippo-YAP/TAZ-p73 pathway for tumor suppression
PMID: 39913207
6
CELSR2 functions in ciliogenesis and neural development including neuron migration and axon guidance in central, peripheral, and enteric nervous systems
PMID: 28716607
7
CELSR2 engages GαS G proteins through both autoproteolytic cleavage-dependent and cleavage-independent signaling mechanisms
PMID: 37224017
8
CELSR2 identified as novel locus for calcific aortic stenosis in multiancestry GWAS with associations in Black and Hispanic individuals
PMID: 36802703
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.59Moderate
HypercholesterolemiaOpen Targets
0.57Moderate
myocardial infarctionOpen Targets
0.57Moderate
metabolic diseaseOpen Targets
0.56Moderate
hyperlipidemiaOpen Targets
0.56Moderate
angina pectorisOpen Targets
0.56Moderate
coronary atherosclerosisOpen Targets
0.55Moderate
Myocardial IschemiaOpen Targets
0.55Moderate
Abdominal Aortic AneurysmOpen Targets
0.54Moderate
cardiovascular diseaseOpen Targets
0.54Moderate
heart failureOpen Targets
0.53Moderate
familial hyperlipidemiaOpen Targets
0.52Moderate
heart diseaseOpen Targets
0.52Moderate
metabolic syndromeOpen Targets
0.50Moderate
peripheral vascular diseaseOpen Targets
0.50Moderate
familial lipoprotein lipase deficiencyOpen Targets
0.49Moderate
familial hypercholesterolemiaOpen Targets
0.48Moderate
response to statinOpen Targets
0.45Moderate
intermediate coronary syndromeOpen Targets
0.44Moderate
occlusion precerebral arteryOpen Targets
0.44Moderate
Pathogenic Variants2
NM_001408.3(CELSR2):c.3830C>T (p.Pro1277Leu)Likely pathogenic
Intellectual disability;Global developmental delay
★☆☆☆→ Residue 1277
NM_001408.3(CELSR2):c.2858A>G (p.Asn953Ser)Likely pathogenic
Esophageal atresia/tracheoesophageal fistula
☆☆☆☆2019→ Residue 953
View on ClinVar ↗
Related Genes
PSRC1Protein interaction95%VANGL2Protein interaction95%SORT1Protein interaction95%PCSK9Protein interaction87%FZD3Protein interaction76%VANGL1Protein interaction72%
Tissue Expression6 tissues
Brain
100%
Heart
16%
Bone Marrow
7%
Liver
6%
Ovary
3%
Lung
3%
Gene Interaction Network
Click a node to explore
CELSR2PSRC1VANGL2SORT1PCSK9FZD3VANGL1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9HCU4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.40Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.33 [0.27–0.40]
RankingsWhere CELSR2 stands among ~20K protein-coding genes
  • #6,140of 20,598
    Most Researched77
  • #4,363of 5,498
    Most Pathogenic Variants2
  • #1,970of 17,882
    Most Constrained (LOEUF)0.40 · top quartile
Genes detectedCELSR2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Inactivating Celsr2 promotes motor axon fasciculation and regeneration in mouse and human.
PMID: 34983065
Brain · 2022
1.00
2
Characterizing the morbid genome of ciliopathies.
PMID: 27894351
Genome Biol · 2016
0.90
3
Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study.
PMID: 37038246
Eur Heart J · 2023
0.80
4
International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors.
PMID: 25713288
Pharmacol Rev · 2015
0.70
5
Extrinsic induction of apoptosis and tumor suppression via the p53-Reprimo-Hippo-YAP/TAZ-p73 pathway.
PMID: 39913207
Proc Natl Acad Sci U S A · 2025
0.60