Cadherin EGF LAG Seven-Pass G-Type Receptor 2

Alternative Names

  • CELSR2
  • Epidermal Growth Factor-Like 2
  • EGFL2
  • Multiple Epidermal Growth Factor-Like Domains 3
  • MEGF3
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OMIM Number

604265

NCBI Gene ID

1952

Uniprot ID

Q9HCU4

Length

26,213 bases

No. of Exons

34

No. of isoforms

1

Protein Name

Cadherin EGF LAG seven-pass G-type receptor 2

Molecular Mass

317453 Da

Amino Acid Count

2923

Genomic Location

chr1:109,249,538-109,275,750

Gene Map Locus
1p13.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NG_052669.1:g.31204C>TLebanonNC_000001.11:g.109275908C>TBenignNG_052669.1:g.31204C>T646776
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