GPR34

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

Basic information

Region (hg38): X:41688973-41697275

Links

ENSG00000171659 ∙ NCBI:2857 ∙ OMIM:300241 ∙ HGNC:4490 ∙ Uniprot:Q9UPC5 ∙ 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 GPR34 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR34 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					1	1
missense			4	1		5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	1	1

Variants in GPR34

This is a list of pathogenic ClinVar variants found in the GPR34 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-41695641-G-A		not specified	Uncertain significance (Dec 26, 2023)
X-41695779-A-G		not specified	Uncertain significance (Jan 23, 2023)
X-41696232-A-G		not specified	Uncertain significance (Nov 22, 2023)
X-41696429-C-T		not specified	Uncertain significance (Nov 29, 2023)
X-41696517-A-G			Benign/Likely benign (Dec 31, 2019)
X-41696521-A-G			Benign (Mar 28, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR34	protein_coding	protein_coding	ENST00000378142	1	8301

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.264	0.713	125625	2	5	125632	0.0000279

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.71	86	144	0.599	0.0000107	2521
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000366	0.0000366
Ashkenazi Jewish	0.000140	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000494	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000529	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Orphan receptor.
• Pathway: GPCRs, Class A Rhodopsin-like (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.459
• rvis_EVS: 0.04
• rvis_percentile_EVS: 56.64

Haploinsufficiency Scores

• pHI: 0.321
• hipred: Y
• hipred_score: 0.516
• ghis: 0.453

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.307

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr34
• Phenotype: cellular phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hematopoietic system phenotype; immune system phenotype; vision/eye phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;G protein-coupled purinergic nucleotide receptor signaling pathway
• Cellular component: integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;G protein-coupled purinergic nucleotide receptor activity