CD200R1

Chr 3

CD200 receptor 1

Also known as: CD200R, HCRTR2, MOX2R, OX2R

NCBI Gene: 131450 ENSG00000163606 UniProt: Q8TD46

CD200R1 encodes an inhibitory receptor that binds CD200 and suppresses inflammatory responses by limiting pro-inflammatory cytokine production in myeloid cells. Mutations cause autosomal recessive primary immunodeficiency with recurrent infections, chronic diarrhea, and colitis typically presenting in infancy. This gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

This gene encodes a receptor for the OX-2 membrane glycoprotein. Both the receptor and substrate are cell surface glycoproteins containing two immunoglobulin-like domains. This receptor is restricted to the surfaces of myeloid lineage cells and the receptor-substrate interaction may function as a myeloid downregulatory signal. Mouse studies of a related gene suggest that this interaction may control myeloid function in a tissue-specific manner. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.37

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)