GPR33

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

Basic information

Region (hg38): 14:31482874-31488039

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.

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			18	2		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	2	0

Variants in GPR33

This is a list of pathogenic ClinVar variants found in the GPR33 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
14-31483070-T-C		not specified	Uncertain significance (May 31, 2023)
14-31483074-G-C		not specified	Uncertain significance (Nov 29, 2021)
14-31483088-A-G		not specified	Uncertain significance (Aug 22, 2023)
14-31483103-G-A		not specified	Uncertain significance (Dec 13, 2023)
14-31483120-T-C		not specified	Uncertain significance (Jan 23, 2023)
14-31483121-A-G		Epidermolysis bullosa simplex with nail dystrophy	Uncertain significance (-)
14-31483154-G-A		not specified	Uncertain significance (Apr 08, 2023)
14-31483329-C-T		not specified	Uncertain significance (Nov 03, 2022)
14-31483341-G-A		not specified	Uncertain significance (Jan 08, 2024)
14-31483383-G-T		not specified	Uncertain significance (Jun 10, 2024)
14-31483449-G-A		not specified	Uncertain significance (Dec 07, 2023)
14-31483539-G-A		not specified	Uncertain significance (Jul 12, 2022)
14-31483566-C-G		not specified	Uncertain significance (May 23, 2023)
14-31483577-G-A		not specified	Uncertain significance (Jun 08, 2022)
14-31483589-C-T		not specified	Uncertain significance (Jun 16, 2023)
14-31483607-G-A		not specified	Uncertain significance (Aug 17, 2022)
14-31483646-G-A		not specified	Likely benign (May 11, 2022)
14-31483670-G-A		not specified	Uncertain significance (May 30, 2024)
14-31483721-G-A		not specified	Uncertain significance (Feb 13, 2024)
14-31483766-A-C		not specified	Uncertain significance (Feb 05, 2024)
14-31483769-A-G		not specified	Uncertain significance (Feb 10, 2023)
14-31483863-A-T		not specified	Uncertain significance (Dec 08, 2023)
14-31483900-C-A		not specified	Likely benign (Mar 02, 2023)

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