rs771057297

This variant is located in the ADGRE2 gene.

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ClinVar annotation

Uncertain Significance★★★☆

2 submitters1 publication

not provided; not specified

About ADGRE2

This gene encodes a member of the class B seven-span transmembrane (TM7) subfamily of G-protein coupled receptors. These proteins are characterized by an extended extracellular region with a variable number of N-terminal epidermal growth factor-like domains coupled to a TM7 domain via a mucin-like spacer domain. The encoded protein is expressed mainly in myeloid cells where it promotes cell-cell adhesion through interaction with chondroitin sulfate chains. This gene is situated in a cluster of related genes on chromosome 19. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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