Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
885
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Cholecystokinin |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
CCK |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
- |
Chromosome
Chromosome number
|
3 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
3p22.1 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
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 |
UniProt ID |
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
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Schizophrenia |
Schizophrenia |
rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 View all (12 more) |
17471287, 11549403 |
Seizure |
Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure |
rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130 View all (179 more) |
6265841 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Pancreatitis |
Pancreatitis |
|
16499907, 16187300 |
ClinVar |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
Glioblastoma |
Glioblastoma |
CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 |
|
GWAS, CBGDA |
Diabetes |
Diabetes |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Alzheimer Disease |
Associate
|
36635346 |
Anxiety |
Associate
|
26454231 |
Bicuspid Aortic Valve Disease |
Associate
|
36071494 |
Biliary Tract Neoplasms |
Associate
|
15682471, 23701593 |
Breast Neoplasms |
Associate
|
26395295, 26472474 |
Carcinogenesis |
Associate
|
9239407 |
Colonic Neoplasms |
Associate
|
26508021 |
Desmoplastic Small Round Cell Tumor |
Associate
|
1631063 |
Diabetes Mellitus |
Associate
|
28592602 |
Diabetes Mellitus Type 2 |
Associate
|
31691451 |
Diarrhea |
Inhibit
|
26327765 |
Epilepsies Partial |
Stimulate
|
26508021 |
Epilepsy |
Associate
|
30171525 |
Gallbladder Diseases |
Associate
|
23701593 |
Gallstones |
Associate
|
26228366 |
Irritable Bowel Syndrome |
Associate
|
26327765, 34055657 |
Melanoma |
Associate
|
38069171 |
Mental Disorders |
Associate
|
26608796 |
Migraine Disorders |
Associate
|
32276265 |
Neoplasms |
Associate
|
15682471, 1631063, 3472248 |
Neuroblastoma |
Associate
|
1720402 |
Neuroectodermal Tumors Primitive Peripheral |
Associate
|
1631063, 2384178, 7694875 |
Obesity |
Associate
|
11074497, 26381270, 28592602, 34371941 |
Osteogenesis imperfecta type 1A |
Associate
|
26395295 |
Pain |
Associate
|
32920787 |
Pancreatic Neoplasms |
Associate
|
25469546, 8925905 |
Panic Disorder |
Associate
|
26454231 |
Polycystic Ovary Syndrome |
Inhibit
|
21827375 |
Polycystic Ovary Syndrome |
Associate
|
21827375 |
Prader Willi Syndrome |
Associate
|
17596650 |
Prostatic Neoplasms |
Associate
|
34777331 |
Rhabdomyosarcoma |
Associate
|
1631063 |
Sarcoma Ewing |
Associate
|
1631063 |
Stiff Person Syndrome |
Associate
|
26608796 |
Stomach Neoplasms |
Associate
|
1511743, 27072272 |
Stress Disorders Post Traumatic |
Associate
|
26454231 |
|