GRPR

gastrin releasing peptide receptor, the group of Bombesin receptors

Basic information

Region (hg38): X:16123565-16153518

Links

ENSG00000126010 ∙ NCBI:2925 ∙ OMIM:305670 ∙ HGNC:4609 ∙ Uniprot:P30550 ∙ 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 GRPR gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GRPR 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				5	3	8
missense			13	4		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	13	9	3

Variants in GRPR

This is a list of pathogenic ClinVar variants found in the GRPR 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-16123970-G-C		GRPR-related disorder	Likely benign (Apr 03, 2018)
X-16124032-G-A		not specified	Uncertain significance (Jun 25, 2024)
X-16124063-C-T		GRPR-related disorder	Likely benign (May 09, 2022)
X-16124153-C-G		not specified	Uncertain significance (Feb 05, 2024)
X-16124195-G-A		not specified	Uncertain significance (Dec 19, 2022)
X-16124205-G-T		not specified	Uncertain significance (Jan 18, 2022)
X-16124212-C-G		not specified	Uncertain significance (Feb 05, 2024)
X-16124239-G-A		not specified	Uncertain significance (Aug 31, 2022)
X-16124308-A-G		not specified	Uncertain significance (Sep 28, 2021)
X-16124349-G-A		GRPR-related disorder	Benign (Dec 31, 2019)
X-16150362-C-G		not specified	Uncertain significance (Sep 12, 2023)
X-16150395-C-T		GRPR-related disorder	Likely benign (Jun 29, 2018)
X-16150420-G-A		not specified	Uncertain significance (Nov 14, 2024)
X-16150530-T-C			Benign (Jun 06, 2018)
X-16150549-G-A			Likely benign (Apr 09, 2018)
X-16150582-T-C		not specified	Uncertain significance (Jul 17, 2023)
X-16152272-G-A		not specified	Uncertain significance (Nov 23, 2024)
X-16152274-C-G		GRPR-related disorder	Likely benign (Oct 31, 2022)
X-16152350-G-T		not specified	Uncertain significance (Apr 07, 2022)
X-16152393-T-C			Likely benign (Dec 01, 2022)
X-16152501-G-C		GRPR-related disorder	Benign (Dec 31, 2019)
X-16152518-G-A		not specified	Uncertain significance (Sep 30, 2024)
X-16152530-G-A		not specified	Uncertain significance (Jan 04, 2024)
X-16152542-C-T		not specified	Uncertain significance (Oct 04, 2024)
X-16152557-C-T		not specified	Uncertain significance (Aug 10, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GRPR	protein_coding	protein_coding	ENST00000380289	3	29466

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.224	0.743	125716	4	3	125723	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.725	130	155	0.836	0.0000123	2540
Missense in Polyphen		49	69.868	0.70132		1149
Synonymous	0.318	64	67.3	0.951	0.00000560	794
Loss of Function	1.79	2	7.17	0.279	5.26e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000365	0.0000365
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000614	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000524	0.0000327
Other	0.000221	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for gastrin-releasing peptide (GRP) (PubMed:1655761). Signals via association with G proteins that activate a phosphatidylinositol-calcium second messenger system, resulting in Akt phosphorylation. Contributes to the regulation of food intake. Contributes to the perception of prurient stimuli and transmission of itch signals in the spinal cord that promote scratching behavior, but does not play a role in the perception of pain. Contributes primarily to nonhistaminergic itch sensation. Contributes to long-term fear memory, but not normal spatial memory (By similarity). {ECO:0000250|UniProtKB:P21729, ECO:0000269|PubMed:1655761}.
• Pathway: Calcium signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Other;Peptide GPCRs;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.218

Intolerance Scores

• loftool: 0.403
• rvis_EVS: 0.11
• rvis_percentile_EVS: 61.73

Haploinsufficiency Scores

• pHI: 0.447
• hipred: N
• hipred_score: 0.459
• ghis: 0.405

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.404

Gene Damage Prediction

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

Mouse Genome Informatics

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

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;learning or memory;cell population proliferation;social behavior;psychomotor behavior;regulation of cell population proliferation;response to external biotic stimulus;motor behavior
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;neuropeptide receptor activity;G protein-coupled peptide receptor activity;neuropeptide binding