CELSR1 (cadherin EGF LAG seven-pass G-type receptor 1)

2014-08-01  

Identity

HGNC
CELSR1
LOCATION
22q13.31
LOCUSID
9620
ALIAS
ADGRC1,CDHF9,FMI2,HFMI2,LMPHM9,ME2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9620
MIM: 604523
HGNC: 1850
Ensembl: ENSG00000075275

Variants:

dbSNP: 9620
ClinVar: 9620
TCGA: ENSG00000075275
COSMIC: CELSR1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000075275ENST00000262738Q9NYQ6
ENSG00000075275ENST00000454637H0Y7R9

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

References

Pubmed IDYearTitleCitations
382726622024De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops.0
383070212024CELSR1, a core planar cell polarity protein, features a weakly adhesive and flexible cadherin ectodomain.0
382726622024De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops.0
383070212024CELSR1, a core planar cell polarity protein, features a weakly adhesive and flexible cadherin ectodomain.0
372240172023The adhesion GPCRs CELSR1-3 and LPHN3 engage G proteins via distinct activation mechanisms.3
372254112023Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants.1
372322182023Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome.1
380700112023Upregulation of CELSR1 expression promotes ovarian cancer cell proliferation, migration, and invasion.1
372240172023The adhesion GPCRs CELSR1-3 and LPHN3 engage G proteins via distinct activation mechanisms.3
372254112023Ureteropelvic junction obstruction with primary lymphoedema associated with CELSR1 variants.1
372322182023Lymphedema is associated with CELSR1 in Phelan-McDermid syndrome.1
380700112023Upregulation of CELSR1 expression promotes ovarian cancer cell proliferation, migration, and invasion.1
351331742022CELSR1 Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome.10
364537122022CELSR1 variants are associated with partial epilepsy of childhood.3
351331742022CELSR1 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/tumors-explorer/case-report-explorer/gene-fusions/?id=54208