GPR34

protein-coding

G protein-coupled receptor 34, the group of G protein-coupled receptors, Class A orphans

Gene summary

G protein-coupled receptors (GPCRs), such as GPR34, are integral membrane proteins containing 7 putative transmembrane domains (TMs). These proteins mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins, ultimately resulting in a physiologic response.[supplied by OMIM, Apr 2006]

MANE transcript

NM_001097579.2

Inheritance

—

ClinVar variants

U:37B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.26

Max pathogenic AF

—

Genomic locus

chrX:41,688,973-41,697,275

External References & Databases

Ensembl (ENSG00000171659)

Transcript & Mutation Effects

hg38 • Region Span ~8.3 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 GPR34 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 10

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001097579.2. 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			4 clinvar		1 clinvar	5
missense			28 clinvar	3 clinvar		31
nonsense			3 clinvar			3
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	37	3	1	41

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 15 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001097579.2	RefSeq	NP_001091048.1	1	MANE Select
ENST00000378142.9	Ensembl	ENSP00000367384.4	1	MANE Select
NM_005300.4	RefSeq	NP_005291.1	1	Standard
ENST00000378138.5	Ensembl	ENSP00000367378.5	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

GPCRs, Class A Rhodopsin-like

Biological Process

G protein-coupled receptor signaling pathway
G protein-coupled purinergic nucleotide receptor signaling pathway

Molecular Function

G protein-coupled receptor activity
G protein-coupled purinergic nucleotide receptor activity

Cellular Component

integral component of plasma membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000378142
Coding exons: 1
Length: 8301
Individuals with no LoFs: 125625
Homozygous LoFs: 2
Heterozygous LoFs: 5
Defined: 125632
p: 0.0000279

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.71	86	144	0.599	0.0000107	2521
Missense (PolyPhen)		19	45.466	0.41789		837
Synonymous	1.15	39	49.2	0.792	0.00000361	751
Loss of Function	1.91	2	7.71	0.259	6.97e-7	127

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000037	0.000029	rare
Ashkenazi Jewish	0.00014	0.000099	rare
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000049	0.000035	rare
South Asian	0.000053	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Orphan receptor.;

Recessive Scores

pRec: 0.104

Intolerance Scores

LoFtool: 0.459
RVIS EVS: 0.04
RVIS percentile EVS: 56.64

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.307

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium