GPRC5B

G-protein coupled receptor family C group 5 member B is a protein that in humans is encoded by the GPRC5B gene.^[5][6][7]

GPRC5B
Identifiers
Aliases	GPRC5B, RAIG-2, RAIG2, G protein-coupled receptor class C group 5 member B
External IDs	OMIM: 605948; MGI: 1927596; HomoloGene: 9435; GeneCards: GPRC5B; OMA:GPRC5B - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16p12.3 Start 19,856,691 bp[1] End 19,886,167 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 F2 Start 118,571,270 bp[2] End 118,594,434 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in internal globus pallidus inferior olivary nucleus inferior ganglion of vagus nerve dorsal motor nucleus of vagus nerve middle frontal gyrus external globus pallidus subthalamic nucleus superior vestibular nucleus ventral tegmental area C1 segment Top expressed in epithelium of lens deep cerebellar nuclei pontine nuclei dentate gyrus of hippocampal formation granule cell lobe of cerebellum cerebellar vermis saccule medial vestibular nucleus substantia nigra motor neuron More reference expression data BioGPS More reference expression data
Gene ontology Molecular function G protein-coupled receptor activity signal transducer activity protein kinase activator activity G protein-coupled receptor binding protein kinase binding Cellular component integral component of membrane intracellular membrane-bounded organelle membrane plasma membrane nucleolus extracellular exosome cytoplasmic vesicle membrane cytoplasmic vesicle nucleus extracellular space cytosol cell surface receptor complex Biological process G protein-coupled receptor signaling pathway signal transduction activation of protein kinase activity positive regulation of I-kappaB kinase/NF-kappaB signaling positive regulation of neuron differentiation positive regulation of inflammatory response positive regulation of macrophage cytokine production positive regulation of protein tyrosine kinase activity positive regulation of canonical Wnt signaling pathway locomotory behavior positive regulation of neuron projection development glucose homeostasis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 51704 64297 Ensembl ENSG00000167191 ENSMUSG00000008734 UniProt Q9NZH0 Q923Z0 RefSeq (mRNA) NM_001304771 NM_016235 NM_001195774 NM_022420 RefSeq (protein) NP_001291700 NP_057319 NP_001182703 NP_071865 Location (UCSC) Chr 16: 19.86 – 19.89 Mb Chr 7: 118.57 – 118.59 Mb PubMed search [3] [4]
Wikidata
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Function

The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade.^[7]

Clinical significance

Dominant mutations in GPRC5B have been identified as an ultra-rare cause of the neurological white matter disease Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC).^[8] Affected individuals present with early-onset macrocephaly, mild motor developmental delay, slowly progressive ataxia, and characteristic brain MRI findings including diffuse white matter abnormalities and subcortical cysts. Disruption of GPRC5B impairs brain water homeostasis, leading to the clinical and radiological features of this leukodystrophy.

See also

• Retinoic acid-inducible orphan G protein-coupled receptor