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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CELSR3
cadherin EGF LAG seven-pass G-type receptor 3
Chromosome 3 Β· 3p21.31
NCBI Gene: 1951Ensembl: ENSG00000008300.17HGNC: HGNC:3230UniProt: Q9NYQ7
44PubMed Papers
20Diseases
0Drugs
13Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedReceptor
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingcell-cell adhesion mediated by cadherinplasma membraneadherens junctioncongenital anomalies of kidney and urinary tract 1Hirschsprung diseaseNeurodevelopmental disorderTourette syndrome
✦AI Summary

CELSR3 (cadherin EGF LAG seven-pass G-type receptor 3) is an adhesion G protein-coupled receptor 1 with critical roles in nervous system development and cell signaling. As a planar cell polarity protein 2, CELSR3 functions in neuron migration, axon guidance, and neural circuit formation, working in concert with signaling partners like FZD3 and FZD6 3. The receptor guides axon development across central, peripheral, sympathetic, and enteric nervous systems 4, with particular importance in globus pallidus development and basal ganglia connectivity 5. CELSR3 also serves as a receptor for the secreted tumor suppressor Reprimo, activating the Hippo-YAP/TAZ-p73 apoptosis pathway 6. Biallelic CELSR3 variants cause central nervous system and urinary tract anomalies, with computational modeling suggesting protein structural variants affect disease penetrance 2. Recent studies identify CELSR3 as a risk factor for Tourette syndrome; Celsr3 mutant mice display tic-like behaviors mediated through altered striatal dopamine D3 receptor distribution 7. These findings establish CELSR3 as essential for developmental patterning and neurotransmitter signaling, with emerging therapeutic relevance for neuropsychiatric and neuroendocrine disorders 8.

Sources cited
1
CELSR3 (ADGRC3) is classified as an adhesion G protein-coupled receptor
PMID: 25713288
2
CELSR3 codes for a planar cell polarity protein and bi-allelic variants cause CNS and urinary tract anomalies
PMID: 38429302
3
CELSR3 functions in neural development, neuron migration, and axon guidance; works with FZD3 and FZD6
PMID: 28716607
4
CELSR3 and Fzd3 control longitudinal tract development and axon navigation in multiple nervous systems
PMID: 25813877
5
CELSR3 is a receptor for secreted Reprimo and activates the Hippo-YAP/TAZ-p73 apoptosis pathway
PMID: 39913207
6
CELSR3 is required for globus pallidus development and basal ganglia connectivity
PMID: 25113559
7
CELSR3 is a risk factor for Tourette syndrome; mutations cause tic-like behaviors through altered striatal D3 receptor distribution
PMID: 40155412
8
CELSR3 is upregulated as an alternative therapeutic target in gastroenteropancreatic neuroendocrine neoplasms
PMID: 39874041
Disease Associationsβ“˜20
congenital anomalies of kidney and urinary tract 1Open Targets
0.32Weak
Hirschsprung diseaseOpen Targets
0.19Weak
Neurodevelopmental disorderOpen Targets
0.19Weak
Tourette syndromeOpen Targets
0.17Weak
obesityOpen Targets
0.13Weak
major depressive disorderOpen Targets
0.12Weak
intelligenceOpen Targets
0.11Weak
hypertrophic cardiomyopathyOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.11Weak
head and neck squamous cell carcinomaOpen Targets
0.08Suggestive
anorexia nervosaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.08Suggestive
lung adenocarcinomaOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.07Suggestive
myocardial infarctionOpen Targets
0.07Suggestive
cancerOpen Targets
0.04Suggestive
squamous cell carcinomaOpen Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
mathematical abilityOpen Targets
0.03Suggestive
inflammatory bowel diseaseOpen Targets
0.03Suggestive
Pathogenic Variants13
NM_001407.3(CELSR3):c.1574G>A (p.Arg525His)Likely pathogenic
See cases
β˜†β˜†β˜†β˜†2023β†’ Residue 525
NM_001407.3(CELSR3):c.7999G>A (p.Gly2667Ser)Likely pathogenic
See cases
β˜†β˜†β˜†β˜†2023β†’ Residue 2667
NM_001407.3(CELSR3):c.6959T>C (p.Val2320Ala)Likely pathogenic
See cases
β˜†β˜†β˜†β˜†2023β†’ Residue 2320
NM_001407.3(CELSR3):c.3712C>T (p.Arg1238Cys)Likely pathogenic
See cases
β˜†β˜†β˜†β˜†2023β†’ Residue 1238
NM_001407.3(CELSR3):c.7501G>A (p.Glu2501Lys)Likely pathogenic
See cases
β˜†β˜†β˜†β˜†2023β†’ Residue 2501
NM_001407.3(CELSR3):c.3142C>T (p.Arg1048Trp)Likely pathogenic
Congenital anomalies of kidney and urinary tract 1
β˜†β˜†β˜†β˜†2023β†’ Residue 1048
NM_001407.3(CELSR3):c.3100G>C (p.Glu1034Gln)Likely pathogenic
Congenital anomalies of kidney and urinary tract 1
β˜†β˜†β˜†β˜†2023β†’ Residue 1034
NM_001407.3(CELSR3):c.9299G>C (p.Gly3100Ala)Likely pathogenic
See cases
β˜†β˜†β˜†β˜†2023β†’ Residue 3100
NM_001407.3(CELSR3):c.7423C>T (p.Arg2475Trp)Likely pathogenic
See cases
β˜†β˜†β˜†β˜†2023β†’ Residue 2475
NM_001407.3(CELSR3):c.6304G>A (p.Ala2102Thr)Likely pathogenic
See cases
β˜†β˜†β˜†β˜†2023β†’ Residue 2102
NM_001407.3(CELSR3):c.5059C>T (p.His1687Tyr)Likely pathogenic
See cases
β˜†β˜†β˜†β˜†2023β†’ Residue 1687
NM_001407.3(CELSR3):c.7075C>T (p.Pro2359Ser)Likely pathogenic
See cases
β˜†β˜†β˜†β˜†2023β†’ Residue 2359
NM_001407.3(CELSR3):c.8480C>A (p.Thr2827Asn)Likely pathogenic
See cases
β˜†β˜†β˜†β˜†2023β†’ Residue 2827
View on ClinVar β†—
Related Genes
FZD9Protein interaction87%VANGL2Protein interaction76%FZD3Protein interaction71%FZD6Protein interaction55%VANGL1Protein interaction51%CELSR2Shared pathway46%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
77%
Ovary
14%
Liver
9%
Lung
9%
Heart
4%
Gene Interaction Network
Click a node to explore
CELSR3FZD9VANGL2FZD3FZD6VANGL1CELSR2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9NYQ7
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.34Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.28 [0.23–0.34]
RankingsWhere CELSR3 stands among ~20K protein-coding genes
  • #9,567of 20,598
    Most Researched44
  • #2,622of 5,498
    Most Pathogenic Variants13
  • #1,499of 17,882
    Most Constrained (LOEUF)0.34 Β· top 10%
Genes detectedCELSR3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
International Union of Basic and Clinical Pharmacology. XCIV. Adhesion G protein-coupled receptors.
PMID: 25713288
Pharmacol Rev Β· 2015
1.00
2
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 Β· 2025
0.90
3
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.
PMID: 38429302
NPJ Genom Med Β· 2024
0.80
4
Seven pass Cadherins CELSR1-3.
PMID: 28716607
Semin Cell Dev Biol Β· 2017
0.70
5
Tic-related behaviors in Celsr3 mutant mice are contributed by alterations of striatal D
PMID: 40155412
Mol Psychiatry Β· 2025
0.60