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... See more...

Aliases for CCKBR Gene

Aliases for CCKBR Gene

  • Cholecystokinin B Receptor 2 3 5
  • Gastrin/Cholecystokinin Type B Receptor 3 4
  • Cholecystokinin-2 Receptor 3 4
  • CCK-B Receptor 3 4
  • Gastrin Receptor 3
  • CCK2 Receptor 3
  • CCK-BR 4
  • CCK2-R 4
  • CCK-B 3
  • CCK2R 3
  • CCKBR 5
  • CCKRB 4
  • GASR 3

External Ids for CCKBR Gene

Previous GeneCards Identifiers for CCKBR Gene

  • GC11P007024
  • GC11P006741
  • GC11P006240
  • GC11P006245
  • GC11P006237
  • GC11P005940
  • GC11P006280

Summaries for CCKBR Gene

Entrez Gene Summary for CCKBR Gene

  • 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]

GeneCards Summary for CCKBR Gene

CCKBR (Cholecystokinin B Receptor) is a Protein Coding gene. Diseases associated with CCKBR include Panic Disorder and Anxiety. Among its related pathways are Secretion of Hydrochloric Acid in Parietal Cells and RET signaling. Gene Ontology (GO) annotations related to this gene include G protein-coupled receptor activity and 1-phosphatidylinositol-3-kinase regulator activity. An important paralog of this gene is CCKAR.

UniProtKB/Swiss-Prot Summary for CCKBR Gene

  • 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.
  • Isoform 2 is constitutively activated and may regulate cancer cell proliferation via a gastrin-independent mechanism.

Tocris Summary for CCKBR Gene

  • The cholecystokinin2 receptor (CCK2 receptor, CCK-B receptor) is a member of the cholecystokinin receptor group of G-protein-coupled receptors that also includes CCK1. They are located primarily in the brain, spinal cord and stomach and influence neurotransmission.

Gene Wiki entry for CCKBR Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCKBR Gene

Genomics for CCKBR Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCKBR Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J006258 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE 612.9 +0.0 27 2.2 PRDM10 POLR2A EZH2 ZNF600 ZNF341 ZNF10 ZBTB17 ZFHX2 ZNF335 ZNF366 CCKBR APBB1 CNGA4 TRIM3 DCHS1 NONHSAG007520.2 CAVIN3
GH11J006259 Enhancer 0.3 ENCODE 600.7 -1.2 -1200 0.1 CTCF EZH2 CCKBR CNGA4
GH11J006260 Enhancer 0.3 ENCODE 600.7 -1.1 -1121 0 CTCF EZH2 CCKBR CNGA4
GH11J006261 Enhancer 0.2 ENCODE 613.4 +1.4 1400 0.2 CCKBR NONHSAG007520.2 CAVIN3
GH11J006234 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10 -25.1 -25105 3 SP1 CREB1 PRDM10 ZNF629 ZNF512 RFX1 IKZF1 ZNF692 POLR2A JUND FAM160A2 CNGA4 RRP8 APBB1 ENSG00000254641 CCKBR lnc-OR52B2-2 C11orf42
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCKBR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCKBR

Top Transcription factor binding sites by QIAGEN in the CCKBR gene promoter:
  • GR
  • GR-alpha
  • GR-beta
  • STAT3

Genomic Locations for CCKBR Gene

Genomic Locations for CCKBR Gene
chr11:6,259,806-6,272,127
(GRCh38/hg38)
Size:
12,322 bases
Orientation:
Plus strand
chr11:6,280,966-6,293,357
(GRCh37/hg19)
Size:
12,392 bases
Orientation:
Plus strand

Genomic View for CCKBR Gene

Genes around CCKBR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCKBR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCKBR Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCKBR Gene

Proteins for CCKBR Gene

  • Protein details for CCKBR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32239-GASR_HUMAN
    Recommended name:
    Gastrin/cholecystokinin type B receptor
    Protein Accession:
    P32239
    Secondary Accessions:
    • A8K7P9
    • O75824
    • Q16144
    • Q92492
    • Q96LC6
    • Q9NYK7
    • Q9UBV1

    Protein attributes for CCKBR Gene

    Size:
    447 amino acids
    Molecular mass:
    48419 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CCKBR Gene

    Alternative splice isoforms for CCKBR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCKBR Gene

Post-translational modifications for CCKBR Gene

  • Glycosylation at Asn7, Asn30, and Asn36
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CCKBR Gene

Domains & Families for CCKBR Gene

Gene Families for CCKBR Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • FDA approved drug targets
  • G-protein coupled receptors
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CCKBR Gene

InterPro:
Blocks:
  • Gastrin receptor signature
ProtoNet:

Suggested Antigen Peptide Sequences for CCKBR Gene

GenScript: Design optimal peptide antigens:
  • Cholecystokinin B receptor splice variant long isoform (A0SEH4_HUMAN)
  • Cholecystokinin B receptor splice variant hip/hop1 (A0SEH5_HUMAN)
  • Cholecystokinin B receptor splice variant hip/hop2 (A0SEH6_HUMAN)
  • Cholecystokinin B receptor splice variant hip/hop3 (A0SEH7_HUMAN)
  • Cholecystokinin-2 receptor (GASR_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P32239

UniProtKB/Swiss-Prot:

GASR_HUMAN :
  • Belongs to the G-protein coupled receptor 1 family.
Family:
  • Belongs to the G-protein coupled receptor 1 family.
genes like me logo Genes that share domains with CCKBR: view

Function for CCKBR Gene

Molecular function for CCKBR Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot Function:
Isoform 2 is constitutively activated and may regulate cancer cell proliferation via a gastrin-independent mechanism.
GENATLAS Biochemistry:
cholecystokinin B/gastrin receptor, G protein coupled receptor superfamily,stimulating the phosphatidylinositol cycle,expressed in brain,pancreas and stomach

Phenotypes From GWAS Catalog for CCKBR Gene

Gene Ontology (GO) - Molecular Function for CCKBR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004930 G protein-coupled receptor activity IEA --
GO:0004951 cholecystokinin receptor activity IDA 7681836
GO:0005515 protein binding IPI 16963136
GO:0015054 gastrin receptor activity IDA 7681836
GO:0017046 peptide hormone binding IPI 7681836
genes like me logo Genes that share ontologies with CCKBR: view
genes like me logo Genes that share phenotypes with CCKBR: view

Animal Models for CCKBR Gene

MGI Knock Outs for CCKBR:

Animal Model Products

CRISPR Products

miRNA for CCKBR Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCKBR

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CCKBR Gene

Localization for CCKBR Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCKBR Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCKBR gene
Compartment Confidence
plasma membrane 5
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for CCKBR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CCKBR: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CCKBR Gene

Pathways & Interactions for CCKBR Gene

genes like me logo Genes that share pathways with CCKBR: view

SIGNOR curated interactions for CCKBR Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for CCKBR Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001696 gastric acid secretion IEA --
GO:0007165 signal transduction IEA --
GO:0007166 cell surface receptor signaling pathway NAS 10913157
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007200 phospholipase C-activating G protein-coupled receptor signaling pathway TAS,IDA 7681836
genes like me logo Genes that share ontologies with CCKBR: view

Drugs & Compounds for CCKBR Gene

(74) Drugs for CCKBR Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Pentagastrin Approved Pharma Target, agonist 0
Cholecystokinin Approved, Investigational Pharma Target, agonist 24
devazepide Pharma Antagonist Selective, orally active CCK1 receptor antagonist 0
lorglumide Pharma Antagonist 0
tetronothiodin Pharma Antagonist 0

(36) Additional Compounds for CCKBR Gene - From: Novoseek and IUPHAR

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[<sup>125</sup>I]PD142308
Antagonist
CCK-8 (desulphated)
Agonist, Full agonist

(5) Tocris Compounds for CCKBR Gene

Compound Action Cas Number
CI 988 Potent and selective CCK2 antagonist 130332-27-3
Gastrin I (human) Selective CCK2 agonist 10047-33-3
LY 225910 Potent CCK2 antagonist 133040-77-4
LY 288513 Selective CCK2 antagonist 147523-65-7
YM 022 Highly potent, selective non-peptide CCK2 antagonist 145084-28-2

(7) ApexBio Compounds for CCKBR Gene

Compound Action Cas Number
CI 988 130332-27-3
Gastrin I (human) 10047-33-3
L-365,260 118101-09-0
LY 225910 133040-77-4
LY 288513 147523-65-7
PD 135158 130285-87-9
YM 022 145084-28-2
genes like me logo Genes that share compounds with CCKBR: view

Drug Products

Transcripts for CCKBR Gene

mRNA/cDNA for CCKBR Gene

3 REFSEQ mRNAs :
23 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCKBR

Alternative Splicing Database (ASD) splice patterns (SP) for CCKBR Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b · 6c
SP1: - -
SP2: - - - -
SP3: - -
SP4:
SP5: -

Relevant External Links for CCKBR Gene

GeneLoc Exon Structure for
CCKBR

Expression for CCKBR Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCKBR Gene

mRNA differential expression in normal tissues according to GTEx for CCKBR Gene

This gene is overexpressed in Stomach (x10.7), Brain - Cortex (x7.5), Brain - Frontal Cortex (BA9) (x6.3), and Brain - Anterior cingulate cortex (BA24) (x6.1).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCKBR

SOURCE GeneReport for Unigene cluster for CCKBR Gene:

Hs.203

mRNA Expression by UniProt/SwissProt for CCKBR Gene:

P32239-GASR_HUMAN
Tissue specificity: Isoform 1 is expressed in brain, pancreas, stomach, the colon cancer cell line LoVo and the T-lymphoblastoma Jurkat, but not in heart, placenta, liver, lung, skeletal muscle, kidney or the stomach cancer cell line AGS. Expressed at high levels in the small cell lung cancer cell line NCI-H510, at lower levels in NCI-H345, NCI-H69 and GLC-28 cell lines, not expressed in GLC-19 cell line. Within the stomach, expressed at high levels in the mucosa of the gastric fundus and at low levels in the antrum and duodenum. Isoform 2 is present in pancreatic cancer cells and colorectal cancer cells, but not in normal pancreas or colonic mucosa. Isoform 3 is expressed in brain, pancreas, stomach, the stomach cancer cell line AGS and the colon cancer cell line LoVo.

Evidence on tissue expression from TISSUES for CCKBR Gene

  • Stomach(4.7)
  • Nervous system(4.6)
  • Blood(4.4)
  • Lung(4.3)
  • Pancreas(3)
  • Gall bladder(2.8)
  • Intestine(2.6)
  • Kidney(2.5)
  • Muscle(2.5)
  • Heart(2.2)
genes like me logo Genes that share expression patterns with CCKBR: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCKBR Gene

Orthologs for CCKBR Gene

This gene was present in the common ancestor of animals.

Orthologs for CCKBR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCKBR 30 31
  • 99.11 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCKBR 30 31
  • 87.7 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cckbr 30
  • 85.62 (n)
Mouse
(Mus musculus)
Mammalia Cckbr 30 17 31
  • 85.54 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCKBR 31
  • 73 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 28 (a)
ManyToMany
Chicken
(Gallus gallus)
Aves CCKBR 30 31
  • 65.79 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCKBR 31
  • 49 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii LOC100331465 30
  • 58.41 (n)
CCKBR (2 of 2) 31
  • 54 (a)
OneToMany
CCKBR (1 of 2) 31
  • 49 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta CCKLR-17D1 30 31
  • 50.26 (n)
ManyToMany
CCKLR-17D3 31
  • 25 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea Y39A3B.5 32
  • 35 (a)
ckr-1 31
  • 24 (a)
ManyToMany
ckr-2 31
  • 20 (a)
ManyToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 41 (a)
ManyToMany
-- 31
  • 30 (a)
ManyToMany
Species where no ortholog for CCKBR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for CCKBR Gene

ENSEMBL:
Gene Tree for CCKBR (if available)
TreeFam:
Gene Tree for CCKBR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCKBR: view image

Paralogs for CCKBR Gene

(8) SIMAP similar genes for CCKBR Gene using alignment to 8 proteins:

  • GASR_HUMAN
  • A0SEH4_HUMAN
  • A0SEH5_HUMAN
  • A0SEH6_HUMAN
  • A0SEH7_HUMAN
  • E9PIC8_HUMAN
  • E9PJ49_HUMAN
  • E9PPL7_HUMAN
genes like me logo Genes that share paralogs with CCKBR: view

Variants for CCKBR Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCKBR Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
723129 Benign: not provided 6,260,037(+) C/T MISSENSE_VARIANT
769794 Benign: not provided 6,270,078(+) C/G INTRON_VARIANT
rs1805000 - p.Leu37Phe
rs1805001 - p.Arg319Gln
rs1805002 - p.Val125Ile

Additional dbSNP identifiers (rs#s) for CCKBR Gene

Structural Variations from Database of Genomic Variants (DGV) for CCKBR Gene

Variant ID Type Subtype PubMed ID
nsv1046738 CNV loss 25217958
nsv7656 CNV deletion 18451855

Variation tolerance for CCKBR Gene

Residual Variation Intolerance Score: 62.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.35; 63.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCKBR Gene

Human Gene Mutation Database (HGMD)
CCKBR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCKBR

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCKBR Gene

Disorders for CCKBR Gene

MalaCards: The human disease database

(25) MalaCards diseases for CCKBR Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
panic disorder
  • panic disorder 1
anxiety
  • anxiety disorder
pancreatic cancer
  • pancreatic carcinoma
gastrinoma
  • gastrin cell tumour
agoraphobia
  • fear of open spaces
- elite association - COSMIC cancer census association via MalaCards
Search CCKBR in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CCKBR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CCKBR: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CCKBR Gene

Publications for CCKBR Gene

  1. Molecular cloning of the human brain and gastric cholecystokinin receptor: structure, functional expression and chromosomal localization. (PMID: 1280419) Pisegna JR … Wank SA (Biochemical and biophysical research communications 1992) 2 3 4 23
  2. Gene variations in the cholecystokinin system in patients with panic disorder. (PMID: 20023595) Koefoed P … Rehfeld JF (Psychiatric genetics 2010) 3 23 41
  3. Genetic polymorphisms in Parkinson disease subjects with and without hallucinations: an analysis of the cholecystokinin system. (PMID: 15313848) Goldman JG … Zhou L (Archives of neurology 2004) 3 23 41
  4. Intermolecular interactions between cholecystokinin-8 and the third extracellular loop of the cholecystokinin-2 receptor. (PMID: 11926817) Giragossian C … Mierke DF (Biochemistry 2002) 3 4 23
  5. Investigation of quantitative trait loci in the CCKAR gene with susceptibility to alcoholism. (PMID: 12198366) Okubo T … Matsushita S (Alcoholism, clinical and experimental research 2002) 3 23 41

Products for CCKBR Gene

  • Addgene plasmids for CCKBR
  • Signalway ELISA kits for CCKBR
  • Signalway Proteins for CCKBR

Sources for CCKBR Gene