CCK (cholecystokinin)

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Gene Gene information from NCBI Gene database.
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Entrez ID 885
Gene name Cholecystokinin
Gene symbol CCK
Synonyms (NCBI Gene)
-
Chromosome 3
Chromosome location 3p22.1
Summary This gene encodes a member of the gastrin/cholecystokinin family of proteins. The encoded preproprotein is proteolytically processed to generate multiple protein products, including the peptide hormones cholecystokinin-8, -12, -33, and others. The encoded
miRNA miRNA information provided by mirtarbase database.
3
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miRTarBase ID miRNA Experiments Reference
MIRT870835 hsa-miR-1245b-3p CLIP-seq
MIRT870836 hsa-miR-3185 CLIP-seq
MIRT870837 hsa-miR-570 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Transcription factor Regulation Reference
CREB1 Unknown 15030385;15073527
CREBBP Unknown 15030385
EWSR1 Unknown 17438102
FLI1 Unknown 17438102
FOS Activation 1360635
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0001764 Process Neuron migration IEA
GO:0001764 Process Neuron migration ISS 15152034
GO:0005179 Function Hormone activity IEA
GO:0005179 Function Hormone activity TAS 10320330
GO:0005184 Function Neuropeptide hormone activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
118440 1569 ENSG00000187094
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P06307
Protein name Cholecystokinin (CCK) [Cleaved into: Cholecystokinin-58 (CCK58); Cholecystokinin-58 desnonopeptide ((1-49)-CCK58); Cholecystokinin-39 (CCK39); Cholecystokinin-33 (CCK33); Cholecystokinin-25 (CCK25); Cholecystokinin-18 (CCK18); Cholecystokinin-12 (CCK12);
Protein function This peptide hormone induces gall bladder contraction and the release of pancreatic enzymes in the gut. Its function in the brain is not clear. Binding to CCK-A receptors stimulates amylase release from the pancreas, binding to CCK-B receptors s
PDB 7EZH , 7EZK , 7EZM , 7MBX , 7MBY , 7XOU , 8IA7 , 9BKJ , 9BKK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00918 Gastrin 3 → 115 Gastrin/cholecystokinin family Family
Tissue specificity TISSUE SPECIFICITY: Detected in cerebrospinal fluid and urine (at protein level). {ECO:0000269|PubMed:25326458, ECO:0000269|PubMed:37453717}.
Sequence
Sequence length 115
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
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KEGG Pathway Reactome Pathway
Neuroactive ligand-receptor interaction Peptide ligand-binding receptors
Hormone signaling G alpha (q) signalling events
Insulin secretion  
Pancreatic secretion  
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (20)
Phenotype Name Clinical Significance Source Reference Evidence Score
ANOREXIA — CTD, Disgenet
CTD, Disgenet 		22903826, 24385417
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATALEPSY — CTD, Disgenet
CTD, Disgenet 		2862602, 4040614
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER — GWAS catalog 36810956
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOLECYSTOLITHIASIS — Disgenet —
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
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TRH 2 shared diseasesCatalepsy, Seizures 3 shared pathwaysHormone signaling, Peptide ligand-binding receptors, G alpha (q) signalling events 3 shared evidence sourcesCTD (Catalepsy), Disgenet (Catalepsy), CTD (Seizures) Related via 3 shared pathways including Hormone signaling, Peptide ligand-binding receptors — evidence mostly CTD. NTS 2 shared diseasesCatalepsy, Hyperkinesia 2 shared pathwaysPeptide ligand-binding receptors, G alpha (q) signalling events 4 shared evidence sourcesCTD (Catalepsy), Disgenet (Catalepsy), Disgenet (Hyperkinesia), CTD (Hyperkinesia) Related via 2 shared diseases including Catalepsy, Hyperkinesia — evidence mostly CTD. CCKAR 5 shared pathwaysHormone signaling, Insulin secretion, Pancreatic secretion, Peptide ligand-binding receptors, G alpha (q) signalling events Related via 5 shared pathways including Hormone signaling, Insulin secretion. DRD1 4 shared diseasesCatalepsy, Dyskinesia, drug-induced, Seizures, Hyperkinesia 1 shared pathwayHormone signaling 7 shared evidence sourcesCTD (Catalepsy), Disgenet (Catalepsy), CTD (Dyskinesia, drug-induced), Disgenet (Dyskinesia, drug-induced), Disgenet (Hyperkinesia), CTD (Hyperkinesia), CTD (Seizures) Related via 4 shared diseases including Catalepsy, Dyskinesia, drug-induced — evidence mostly CTD. TM4SF4 3 shared diseasesCholecystolithiasis, Gallstones, Liver disease 2 shared evidence sourcesDisgenet (Liver disease), CTD (Liver disease) Related via 3 shared diseases including Cholecystolithiasis, Gallstones — evidence mostly Disgenet.
Major depressive disorder Linked via 5 of 5 related genesTRH, NTS, CCKAR, DRD1, TM4SF4 Depression Linked via 3 of 5 related genesTRH, CCKAR, DRD1 Bradycardia Linked via 2 of 5 related genesTRH, NTS Hypertension Linked via 2 of 5 related genesTRH, DRD1 Bipolar disorder Linked via 2 of 5 related genesCCKAR, DRD1