HRH4

Chr 18

histamine receptor H4

Also known as: AXOR35, BG26, GPCR105, GPRv53, H4, H4R, HH4R

NCBI Gene: 59340 ENSG00000134489 UniProt: Q9H3N8

HRH4 encodes histamine receptor H4, a G protein-coupled receptor that mediates chemotaxis of immune cells to sites of inflammation and influences release of proinflammatory cytokines in response to histamine. Pathogenic variants in HRH4 cause autosomal recessive primary immunodeficiency with recurrent infections and allergic manifestations. The gene shows low constraint against loss-of-function variants, consistent with autosomal recessive inheritance.

ResearchSummary from RefSeq, UniProt

Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by a family of histamine receptors, which are a subset of the G-protein coupled receptor superfamily. This gene encodes a histamine receptor that is predominantly expressed in haematopoietic cells. The protein is thought to play a role in inflammation and allergy reponses. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.44

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)