CCKBR

cholecystokinin B receptor, the group of Cholecystokinin receptors

Basic information

Region (hg38): 11:6259806-6272127

Links

ENSG00000110148 ∙ NCBI:887 ∙ OMIM:118445 ∙ HGNC:1571 ∙ Uniprot:P32239 ∙ 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 CCKBR gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CCKBR 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						0
missense			29		1	30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	29	0	2

Variants in CCKBR

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

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

Position	Type	Phenotype	Significance	ClinVar
11-6259936-T-G		not specified	Uncertain significance (Aug 13, 2021)
11-6260004-G-A		not specified	Uncertain significance (Feb 17, 2023)
11-6260037-C-T			Benign (Sep 19, 2018)
11-6260043-T-G		not specified	Uncertain significance (Apr 13, 2023)
11-6260070-G-A		not specified	Uncertain significance (Aug 30, 2021)
11-6269701-G-A		not specified	Uncertain significance (Aug 13, 2021)
11-6269707-A-G		not specified	Uncertain significance (Jul 06, 2021)
11-6269709-C-G		not specified	Uncertain significance (May 12, 2024)
11-6269735-T-C		not specified	Uncertain significance (Nov 15, 2021)
11-6269743-A-G		not specified	Uncertain significance (Mar 21, 2023)
11-6269746-G-T		not specified	Uncertain significance (Mar 01, 2024)
11-6269797-C-T		not specified	Uncertain significance (Jan 31, 2022)
11-6269818-C-T		not specified	Uncertain significance (Dec 16, 2023)
11-6269834-C-T		not specified	Uncertain significance (Mar 29, 2023)
11-6270078-C-G			Benign (Dec 31, 2019)
11-6270090-G-T		not specified	Uncertain significance (Oct 02, 2023)
11-6270123-G-A		not specified	Uncertain significance (Nov 08, 2022)
11-6270133-T-C		not specified	Uncertain significance (Feb 28, 2024)
11-6270219-T-G		not specified	Uncertain significance (Mar 05, 2024)
11-6270286-G-A		not specified	Uncertain significance (Dec 21, 2023)
11-6270654-T-C		not specified	Uncertain significance (Oct 27, 2021)
11-6270801-C-T		not specified	Uncertain significance (Dec 20, 2023)
11-6271029-G-C		not specified	Uncertain significance (Sep 22, 2023)
11-6271031-C-A		not specified	Uncertain significance (May 27, 2022)
11-6271069-C-A		not specified	Uncertain significance (Mar 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CCKBR	protein_coding	protein_coding	ENST00000334619	5	12392

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000214	0.903	125696	0	52	125748	0.000207

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.656	276	308	0.895	0.0000216	2792
Missense in Polyphen		74	99.664	0.7425		950
Synonymous	1.15	121	138	0.875	0.00000999	1050
Loss of Function	1.63	12	19.8	0.605	0.00000140	152

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000380	0.000380
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000474	0.0000462
European (Non-Finnish)	0.000239	0.000237
Middle Eastern	0.000163	0.000163
South Asian	0.000294	0.000294
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for gastrin and cholecystokinin. The CCK-B receptors occur throughout the central nervous system where they modulate anxiety, analgesia, arousal, and neuroleptic activity. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.
• Pathway: Gastric acid secretion - Homo sapiens (human);Calcium signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);Proton Pump Inhibitor Pathway, Pharmacodynamics;Pantoprazole Action Pathway;Rabeprazole Action Pathway;Esomeprazole Action Pathway;Omeprazole Action Pathway;Lansoprazole Action Pathway;Gastric Acid Production;Nizatidine Action Pathway;Cimetidine Action Pathway;Famotidine Action Pathway;Ranitidine Action Pathway;Betazole Action Pathway;Roxatidine acetate Action Pathway;Metiamide Action Pathway;Pirenzepine Action Pathway;GPCRs, Other;Peptide GPCRs;Secretion of Hydrochloric Acid in Parietal Cells;Cell-type Dependent Selectivity of CCK2R Signaling;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;Gastrin;Gastrin-CREB signalling pathway via PKC and MAPK;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.156

Intolerance Scores

• loftool: 0.895
• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.6

Haploinsufficiency Scores

• pHI: 0.443
• hipred: N
• hipred_score: 0.421
• ghis: 0.541

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.801

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cckbr
• Phenotype: liver/biliary system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); digestive/alimentary phenotype; renal/urinary system phenotype; homeostasis/metabolism phenotype; immune system phenotype; endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype

Gene ontology

• Biological process: gastric acid secretion;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;phospholipase C-activating G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;cell population proliferation;positive regulation of cell population proliferation;cholecystokinin signaling pathway;regulation of phosphatidylinositol 3-kinase activity;digestive tract development;gland development
• Cellular component: plasma membrane;integral component of membrane
• Molecular function: cholecystokinin receptor activity;protein binding;gastrin receptor activity;peptide hormone binding;type B gastrin/cholecystokinin receptor binding;1-phosphatidylinositol-3-kinase regulator activity