CCKBR cholecystokinin B receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCKBRprovided by HGNC
Official Full Name: cholecystokinin B receptorprovided by HGNC
Primary source: HGNC:HGNC:1571
See related: Ensembl:ENSG00000110148 MIM:118445; AllianceGenome:HGNC:1571
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GASR; CCK-B; CCK2R; CCK-2R
Summary: This gene encodes a G-protein coupled receptor for gastrin and cholecystokinin (CCK), regulatory peptides of the brain and gastrointestinal tract. This protein is a type B gastrin receptor, which has a high affinity for both sulfated and nonsulfated CCK analogs and is found principally in the central nervous system and the gastrointestinal tract. Alternative splicing results in multiple transcript variants. A misspliced transcript variant including an intron has been observed in cells from colorectal and pancreatic tumors. [provided by RefSeq, Dec 2015]
Expression: Biased expression in stomach (RPKM 4.6), brain (RPKM 2.9) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 11p15.4

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (6259838..6272127)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (6318278..6330559)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (6281068..6293357)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cholesterol-dependent dynamic changes in the conformation of the type 1 cholecystokinin receptor affect ligand binding and G protein coupling.
Title: Cholesterol-dependent dynamic changes in the conformation of the type 1 cholecystokinin receptor affect ligand binding and G protein coupling.
Cholecystokinin B receptor gene polymorphism (rs2941026) is associated with anxious personality and suicidal thoughts in a longitudinal study.
Title: Cholecystokinin B receptor gene polymorphism (rs2941026) is associated with anxious personality and suicidal thoughts in a longitudinal study.
Unique membranous gastrin receptor expression of parietal cells and its distribution pattern in the gastric oxyntic mucosa and fundic gland polyps.
Title: Unique membranous gastrin receptor expression of parietal cells and its distribution pattern in the gastric oxyntic mucosa and fundic gland polyps.
we found that all eight neuroendocrine neoplasm expressed CCKBR and neuroendocrine markers in a majority of tumor cells. The same markers were also expressed in a proportion of adenocarcinomas supporting the view that gastrin is important in the development of gastric cancer
Title: Expression of the Cholecystokinin-B Receptor in Neoplastic Gastric Cells.
We concluded that low serum gastrin is related to increased risk of ER(+) BC development. The results also established that CCKBR/ERK/P65 signaling function is generally tumor suppressive in ER(+) BC, indicating therapies should focus on restoring, not inhibiting, CCKBR/ERK/P65 pathway activity.
Title: Low serum gastrin associated with ER(+) breast cancer development via inactivation of CCKBR/ERK/P65 signaling.
High CCK2R expression is associated with cancer.
Title: Assessment of cholecystokinin 2 receptor (CCK2R) in neoplastic tissue.
These results suggest that Z-360 exerts an anti-tumor effect through a reduction in anti-apoptosis factors by blocking CCK2R
Title: Z-360 Suppresses Tumor Growth in MIA PaCa-2-bearing Mice via Inhibition of Gastrin-induced Anti-Apoptotic Effects.
High CCK-BR expression is associated with Gastric Cancer.
Title: MiR-148a Functions as a Tumor Suppressor by Targeting CCK-BR via Inactivating STAT3 and Akt in Human Gastric Cancer.
There is no identifiable link between nuclear CCK2R expression and all the clinicopathological characteristics examined in a cohort of Taiwanese colon cancer patients.
Title: Expression of cholecystokinin receptors in colon cancer and the clinical correlation in Taiwan.
Our study showed significantly higher expression of CCKAR and down regulation of CCKBR in pancreatic cancer as compared to control while CCKBR/GR was detected in majority of stomach cancer samples. Thus, our study suggests that CCK and Gs receptors may have diagnostic and therapeutic implications.
Title: Heterogeneous expression of cholecystokinin and gastrin receptor in stomach and pancreatic cancer: An immunohistochemical study.

Submit: New GeneRIF Correction See all GeneRIFs (81)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 1-phosphatidylinositol-3-kinase regulator activity	TAS Traceable Author Statement more info	PubMed
enables cholecystokinin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables cholecystokinin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables gastrin receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables gastrin receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables neuropeptide receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables peptide hormone binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables type B gastrin/cholecystokinin receptor binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in cell surface receptor signaling pathway	NAS Non-traceable Author Statement more info	PubMed
involved_in cholecystokinin signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in digestive tract development	IEA Inferred from Electronic Annotation more info
involved_in gastric acid secretion	IEA Inferred from Electronic Annotation more info
involved_in gland development	IEA Inferred from Electronic Annotation more info
involved_in neuropeptide signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in pH reduction	IEA Inferred from Electronic Annotation more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in phospholipase C-activating G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cell population proliferation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: gastrin/cholecystokinin type B receptor

Names: CCK-B receptor; CCK2 receptor; cholecystokinin type 2 receptor; cholecystokinin-2 receptor; gastrin receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_030591.2 RefSeqGene

Range

5002..17291

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001318029.2 → NP_001304958.1 gastrin/cholecystokinin type B receptor isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' coding region compared to variant 1. The encoded isoform (2) is shorter than isoform 1.

Source sequence(s)

AC022762, AC068733

Consensus CDS

CCDS81550.1

UniProtKB/TrEMBL

E9PIC8

Related

ENSP00000432079.1, ENST00000532715.5

Conserved Domains (2) summary

pfam00001
Location:52 → 306

7tm_1; 7 transmembrane receptor (rhodopsin family)

cl21561
Location:60 → 159

7tm_4; Olfactory receptor
NM_001363552.2 → NP_001350481.1 gastrin/cholecystokinin type B receptor isoform 3

Status: REVIEWED

Source sequence(s)

AC022762, AC068733, AF441129

Consensus CDS

CCDS86175.1

Related

ENSP00000435534.1, ENST00000525462.1

Conserved Domains (2) summary

cd14964
Location:57 → 81

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:55 → 470

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
NM_176875.4 → NP_795344.1 gastrin/cholecystokinin type B receptor isoform 1

See identical proteins and their annotated locations for NP_795344.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC022762, AC068733

Consensus CDS

CCDS7761.1

UniProtKB/Swiss-Prot

A8K7P9, O75824, P32239, Q16144, Q92492, Q96LC6, Q9NYK7, Q9UBV1

Related

ENSP00000335544.2, ENST00000334619.7

Conserved Domains (2) summary

cd14964
Location:57 → 81

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:55 → 401

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily