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CELSR2

Synonyms
ADGRC2, CDHF10, EGFL2, Flamingo1, MEGF3
External resources
Summary
The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are located at the plasma membrane and have nine cadherin domains, seven epidermal growth factor-like repeats and two laminin A G-type repeats in their ectodomain. They also have seven transmembrane domains, a characteristic unique to this subfamily. It is postulated that these proteins are receptors involved in contact-mediated communication, with cadherin domains acting as homophilic binding regions and the EGF-like domains involved in cell adhesion and receptor-ligand interactions. The specific function of this particular member has not been determined.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
13
Likely pathogenic
0
VUS
8,347
Likely benign
7,017
Benign
0

Patient phenotypes

Proportions of phenotypes among 11 patients carrying pathogenic or likely pathogenic variants on CELSR2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.5%
Abnormality of head or neck
27.3%
Abnormality of the cardiovascular system
27.3%
Abnormality of the eye
27.3%
Abnormality of the genitourinary system
27.3%
Abnormality of the ear
18.2%
Abnormality of the musculoskeletal system
18.2%
Growth abnormality
18.2%
Abnormality of limbs
9.1%
Abnormality of the integument
9.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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