GPR33

G protein-coupled receptor 33, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 14:31482875-31488039

Links

ENSG00000214943

∙ NCBI:2856 ∙ OMIM:610118 ∙ HGNC:4489 ∙ Uniprot:Q49SQ1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GPR33 gene.

not_specified (52 variants)
Epidermolysis_bullosa_simplex_with_nail_dystrophy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR33 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001197184.3. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			48 clinvar	5 clinvar		53
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	5	0

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Orphan receptor; could be a chemoattractant receptor.;

Mouse Genome Informatics

Gene name: Gpr33
Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);

Gene ontology

Biological process: complement receptor mediated signaling pathway;inflammatory response;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration
Cellular component: plasma membrane;integral component of membrane
Molecular function: G protein-coupled receptor activity