GPR33

protein-coding

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

Gene summary

This gene has been identified as an orphan chemoattractant G-protein-coupled receptors (GPCR) pseudogene. Studies have shown that the inactivated gene is present as the predominant allele in the human population. A small fraction of the human population has been found to harbor an intact allele.[provided by RefSeq, Oct 2010]

MANE transcript

NM_001197184.3

Inheritance

—

ClinVar variants

U:54B:5

Top phenotype

Epidermolysis bullosa simplex with nail dystrophy

Max pathogenic AF

—

Genomic locus

chr14:31,482,875-31,488,039

External References & Databases

Ensembl (ENSG00000214943)

Transcript & Mutation Effects

hg38 • Region Span ~5.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to GPR33 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 58

Epidermolysis bullosa simplex with nail dystrophyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001197184.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			54 clinvar	5 clinvar		59
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	54	5	0	59

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001197184.3	RefSeq	NP_001184113.2	1	MANE Select
ENST00000399285.5	Ensembl	ENSP00000421557.1	1	MANE Select

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

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

Molecular Function

G protein-coupled receptor activity

Cellular Component

plasma membrane
integral component of membrane

dbNSFP Gene Annotations

Source: dbNSFP

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