Identity
HGNC
LOCATION
22q13.31
LOCUSID
ALIAS
ADGRC1,CDHF9,FMI2,HFMI2,LMPHM9,ME2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 9620
MIM: 604523
HGNC: 1850
Ensembl: ENSG00000075275
Variants:
dbSNP: 9620
ClinVar: 9620
TCGA: ENSG00000075275
COSMIC: CELSR1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000075275 | ENST00000262738 | Q9NYQ6 |
| ENSG00000075275 | ENST00000454637 | H0Y7R9 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38272662 | 2024 | De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops. | 0 |
| 38307021 | 2024 | CELSR1, a core planar cell polarity protein, features a weakly adhesive and flexible cadherin ectodomain. | 0 |
| 38272662 | 2024 | De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops. | 0 |
| 38307021 | 2024 | CELSR1, a core planar cell polarity protein, features a weakly adhesive and flexible cadherin ectodomain. | 0 |
| 37224017 | 2023 | The adhesion GPCRs CELSR1-3 and LPHN3 engage G proteins via distinct activation mechanisms. | 3 |
| 37225411 | 2023 | Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants. | 1 |
| 37232218 | 2023 | Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome. | 1 |
| 38070011 | 2023 | Upregulation of CELSR1 expression promotes ovarian cancer cell proliferation, migration, and invasion. | 1 |
| 37224017 | 2023 | The adhesion GPCRs CELSR1-3 and LPHN3 engage G proteins via distinct activation mechanisms. | 3 |
| 37225411 | 2023 | Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants. | 1 |
| 37232218 | 2023 | Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome. | 1 |
| 38070011 | 2023 | Upregulation of CELSR1 expression promotes ovarian cancer cell proliferation, migration, and invasion. | 1 |
| 35133174 | 2022 | CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome. | 10 |
| 36453712 | 2022 | CELSR1 variants are associated with partial epilepsy of childhood. | 3 |
| 35133174 | 2022 | CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome. | 10 |
Citation
Dessen P
CELSR1 (cadherin EGF LAG seven-pass G-type receptor 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54208/celsr1-(cadherin-egf-lag-seven-pass-g-type-receptor-1)
