GRP

gastrin releasing peptide, the group of Neuropeptides

Basic information

Region (hg38): 18:59220157-59230774

Links

ENSG00000134443

∙ NCBI:2922 ∙ OMIM:137260 ∙ HGNC:4605 ∙ Uniprot:P07492 ∙ 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 GRP gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GRP 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 clinvar	1
missense			4 clinvar			4
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	0	1

Variants in GRP

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

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

Position	Phenotype	Significance	ClinVar
18-59220305-G-T	not specified	Uncertain significance (Jan 24, 2024)	3102721
18-59220374-A-T	not specified	Uncertain significance (Jan 29, 2024)	3102720
18-59225572-T-G	not specified	Uncertain significance (Apr 25, 2022)	2365934
18-59225682-G-T		Benign (Jul 19, 2018)	773769
18-59225731-A-G	not specified	Uncertain significance (Apr 25, 2022)	2285301

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GRP	protein_coding	protein_coding	ENST00000256857	3	10607

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00253	0.568	125735	0	6	125741	0.0000239

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.659	51	66.1	0.772	0.00000307	909
Missense in Polyphen		10	16.232	0.61608		264
Synonymous	-0.450	30	27.0	1.11	0.00000130	305
Loss of Function	0.307	4	4.72	0.848	1.99e-7	60

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000552	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000264	0.0000264
Middle Eastern	0.0000552	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Stimulates the release of gastrin and other gastrointestinal hormones (By similarity). Contributes to the perception of prurient stimuli and to the transmission of itch signals in the spinal cord that promote scratching behavior. Contributes primarily to nonhistaminergic itch sensation. Contributes to long-term fear memory, but not normal spatial memory. Contributes to the regulation of food intake (By similarity). {ECO:0000250|UniProtKB:P63153, ECO:0000250|UniProtKB:Q8R1I2}.;
Pathway: Gastric acid production;Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;GPCR signaling-G alpha i;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.123

Haploinsufficiency Scores

pHI: 0.150
hipred: N
hipred_score: 0.327
ghis: 0.426

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.178

Gene Damage Prediction

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

Mouse Genome Informatics

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

Gene ontology

Biological process: signal transduction;G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;regulation of signaling receptor activity;social behavior;psychomotor behavior;response to external biotic stimulus;positive regulation of peptide hormone secretion;positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway
Cellular component: extracellular region;extracellular space;secretory granule lumen
Molecular function: signaling receptor binding;neuropeptide hormone activity