GAST
gene geneOn this page
Summary
GAST (gastrin, HGNC:4164) is a protein-coding gene on chromosome 17q21.2, encoding Gastrin (P01350). Gastrin stimulates the stomach mucosa to produce and secrete hydrochloric acid and the pancreas to secrete its digestive enzymes.
Gastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic factor for gastrointestinal epithelial cells. Gastrin has two biologically active peptide forms, G34 and G17.
Source: NCBI Gene 2520 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 22 total
- MANE Select transcript:
NM_000805
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4164 |
| Approved symbol | GAST |
| Name | gastrin |
| Location | 17q21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000184502 |
| Ensembl biotype | protein_coding |
| OMIM | 137250 |
| Entrez | 2520 |
Gene structure
Transcript identifiers
Ensembl transcripts: 1 — 1 protein_coding
ENST00000329402
RefSeq mRNA: 1 — MANE Select: NM_000805
NM_000805
CCDS: CCDS11404
Canonical transcript exons
ENST00000329402 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001295310 | 41715778 | 41715969 |
| ENSE00001317580 | 41715432 | 41715647 |
| ENSE00001375681 | 41712331 | 41712387 |
Expression profiles
Bgee: expression breadth ubiquitous, 102 present calls, max score 91.41.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.7558 / max 1527.4159, expressed in 57 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 160869 | 1.6175 | 54 |
| 160823 | 0.1384 | 3 |
Top tissues by expression
268 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pylorus | UBERON:0001166 | 91.41 | gold quality |
| duodenum | UBERON:0002114 | 83.96 | gold quality |
| endometrium epithelium | UBERON:0004811 | 83.95 | gold quality |
| frontal pole | UBERON:0002795 | 78.08 | gold quality |
| pancreatic ductal cell | CL:0002079 | 77.07 | silver quality |
| paraflocculus | UBERON:0005351 | 75.95 | gold quality |
| diaphragm | UBERON:0001103 | 75.39 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 75.06 | gold quality |
| olfactory bulb | UBERON:0002264 | 73.00 | gold quality |
| type B pancreatic cell | CL:0000169 | 71.71 | gold quality |
| myocardium | UBERON:0002349 | 70.29 | gold quality |
| quadriceps femoris | UBERON:0001377 | 70.15 | gold quality |
| vastus lateralis | UBERON:0001379 | 69.66 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 66.81 | gold quality |
| deltoid | UBERON:0001476 | 66.30 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 65.97 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 65.68 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 65.65 | gold quality |
| triceps brachii | UBERON:0001509 | 65.51 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 65.42 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 65.16 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 65.04 | gold quality |
| superficial temporal artery | UBERON:0001614 | 64.68 | gold quality |
| squamous epithelium | UBERON:0006914 | 64.34 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 64.15 | gold quality |
| ileal mucosa | UBERON:0000331 | 63.96 | silver quality |
| gluteal muscle | UBERON:0002000 | 63.56 | gold quality |
| islet of Langerhans | UBERON:0000006 | 63.10 | gold quality |
| gingival epithelium | UBERON:0001949 | 63.08 | gold quality |
| heart right ventricle | UBERON:0002080 | 62.80 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-3929 | yes | 117.08 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: yes
Downstream targets (CollecTRI)
2 targets.
| Target | Regulation |
|---|---|
| EGR1 | Activation |
| SLC4A2 | Activation |
Upstream regulators (CollecTRI, top): AP1, ARNT, ARX, CEBPB, CREBZF, CREM, CTNNB1, EGR1, ESR1, FOS, GLI2, HIF1A, HSF1, ID3, IRF1, JUN, JUND, KLF2, MEN1, NEUROG3, NFKB, NKX2-2, NKX6-3, PITX2, PTF1A, RELA, SMAD3, SMAD4, SMAD7, SP1, SP3, SSRP1, STAT1, STAT3, STAT5A, STAT6, TCF7L2, TFAP2A, TP73, ZGLP1
Literature-anchored findings (GeneRIF, showing 40)
- there was a significant decrease in gastrin plasma concentrations in patients with diabetic autonomic neuropathy (PMID:11710799)
- present in human colorectal adenocarcinomas and liver metatases (PMID:12174892)
- Gastrin induces proliferation in Barrett’s metaplasia through activation of the CCK2 receptor. (PMID:12612900)
- Serum progastrin and gastrin levels are significantly higher in GC patients than in matched controls, confirming that both gastrins may be implicated in gastric carcinogenesis. (PMID:14627349)
- the dibasic processing sites constitute the most important sorting domain of progastrin (PMID:14660571)
- Differentially expressed in gastric cancer and intestinal metaplasia. (PMID:14719064)
- Overexpression of glycine-extended gastrin in human lung cancers was associated with a significantly decreased survival. (PMID:14729624)
- Human gastric carcinomas and gastric cancer cell line SGC-7901 cells coexpress CCK-B receptor and gastrin mRNA. (PMID:15040018)
- gastric hormone gastrin stimulates gastric acid secretion and epithelial cell proliferation–REVIEW (PMID:15533775)
- The regulation and control of gastrin, somatostatin in cell apoptosis of large intestine carcinoma may be directly related to the abnormal expression of bcl-2, bax. (PMID:15655830)
- Gastrin and CCK exert a trophic action on some of the biliary tract cancers. (PMID:15682471)
- The important residues for binding to the low affinity gastrin-Gly receptors are in the C-terminal region of G17-Gly while those required for interaction with the high affinity receptor lie further towards the N-terminus. (PMID:15949639)
- Incidence of K-ras mutation and frequencies of COX-2 and gastrin overexpression are high in laterally spreading granular and protruded type colorectal tumors. (PMID:16174078)
- The expression rates of gastrin and gastrin receptor are high (about a half) in gastric carcinoma tissues, and there is an association between gastrin and gastrin receptor expression. (PMID:16228228)
- Gastrin modulates cell-substrate adhesion via beta 1-integrin. (PMID:16547500)
- the trophic properties of gastrin in colorectal cancer may be mediated in part by transactivation of the EGFR and phosphorylation of ERK1/2, leading to degradation of PPARgamma protein and a decrease in PPARgamma activation (PMID:16574647)
- Gastrin levels were significantly higher in H. pylori-negative children with gastric mucosa inflammation (PMID:16638693)
- A subset of tumors with immunohistochemical expression of gastrin but without evidence of Zollinger-Ellison syndrome (ZES) should be designated as functionally inactive duodenal neuroendocrine tumors (NETs) expressing gastrin, but not as gastrinomas. (PMID:17006979)
- Gastrin concentrations are increased in the plasma and gastric mucosa of Hfe(-/-) mice, and in the sera of humans with HFE-related hemochromatosis. (PMID:17064691)
- Data show an increasing tendency in the expressions of GAS and SS in children with chronic gastritis and duodenal ulcer. (PMID:17229384)
- Gastrin and ghrelin serum levels were respectively slightly higher and significantly lower in colon cancer patients than in controls. Gastrin levels were higher in left colon cancer and H. pylori infection while ghrelin levels were lower in both groups (PMID:17258885)
- Gastrin regulates TFF2 transcription through a GC-rich DNA-binding site and a protein kinase dependent pathway. (PMID:17332476)
- Helicobacter pylori eradication improves gastric histology and decreases serum gastrin, pepsinogen I and pepsinogen II levels in patients with duodenal ulcer. (PMID:17559360)
- description of the gastrin evoked effects on the transcriptional activity of the COX-2 gene in colorectal cancer cells and the identification of regulatory promoter elements. (PMID:17604853)
- possible biologically relevant structural motif for gastrin activity (PMID:17698249)
- A pathway comprising PKCs>Raf-1>MEK-1>ERK-1/-2 mediates the effect of gastrin on the CgA promoter, and strongly suggests that enhanced phosphorylation of Sp1 and CREB is crucial for CgA transactivation through the G protein-coupled CCK-B/gastrin receptor. (PMID:17889508)
- The duration of survival of patients whose tumors exhibited well-differentiated gastrin-positive tumor (GPT) cells (n = 12) was significantly poorer than that of patients whose tumors were GPT-negative (5-year survival, 30% vs 54%; P = 0.037). (PMID:17922093)
- differences in post-translational modifications are attributable to differential intracellular sorting of precursors;a two-step sorting mechanism for progastrin leading to differential secretion of processed fragments (PMID:18057001)
- The abnormal excretion of hormonal factors is closely related to gallstone formation (PMID:18234640)
- There was no significant correlation of expressin of gastrin, CCK-2 receptor, or gastrin precursors with known histomorphological parameters in esophageal squamous cell carcinoma (PMID:18438722)
- Gastrin and somatostatin play important roles in the regulation and control of cell apoptosis in large intestinal carcinoma, and the mechanism may be directly related to the aberrant expression of Fas and Fas ligand. (PMID:18473402)
- About 35.9% of the patients with a T tube after cholecystectomy and choledochotomy have duodenal-biliary reflux. Most of them have sphincter of Oddi hypomotility and the decreased level of plasma motilin and serum gastrin. (PMID:18609694)
- The mRNA and protein expressions of GAS in well and moderately differentiated colorectal cancers were significantly lower than those in poorly differentiated cancers. (PMID:19031134)
- A single base substitution at the -31 position of the IL1B promoter brought about differential expression of IL1B which differentially altered both NFkappaB activation and gastrin expression. (PMID:19166966)
- Human gastrin is not a growth factor for Helicobacter pylori. (PMID:19674135)
- The utility of gastrin-17 for the detection of atrophy in the antral part of the stomach still requires further evaluation due to the low sensitivity. (PMID:19731026)
- In patients with autoimmune Addison’s disease hyperchromograninemia and hypergastrinemia occur with a prevalence of 27.5 and 22.5%, respectively. (PMID:19794299)
- Preprandial oral dose of sitagliptin does not affect circulating gastrin, but it increased gastrin levels after meal loading. (PMID:20145424)
- Progastrin/glycine extended gastrin stimulation of colorectal mucosa proliferation is dependent on the presence of ferric ions. (PMID:20395538)
- a positive-feedback loop whereby gastrin, acting via the CCK2 receptor, increases its own expression (PMID:20932834)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Gast | ENSMUSG00000017165 |
| rattus_norvegicus | Gast | ENSRNOG00000014740 |
Protein
Protein identifiers
Gastrin — P01350 (reviewed: P01350)
All UniProt accessions (2): A0A0E3VY36, P01350
UniProt curated annotations — full annotation on UniProt →
Function. Gastrin stimulates the stomach mucosa to produce and secrete hydrochloric acid and the pancreas to secrete its digestive enzymes. It also stimulates smooth muscle contraction and increases blood circulation and water secretion in the stomach and intestine.
Subcellular location. Secreted.
Post-translational modifications. Two different processing pathways probably exist in antral G-cells. In the dominant pathway progastrin is cleaved at three sites resulting in two major bioactive gastrins, gastrin-34 and gastrin-17. In the putative alternative pathway, progastrin may be processed only at the most C-terminal dibasic site resulting in the synthesis of gastrin-71. Sulfation enhances proteolytic processing, and blocks peptide degradation. Levels of sulfation differ between proteolytically-cleaved gastrins. Thus, gastrin-6 is almost 73% sulfated, whereas the larger gastrins are less than 50% sulfated. Sulfation levels are also tissue-specific.
Similarity. Belongs to the gastrin/cholecystokinin family.
RefSeq proteins (1): NP_000796* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001651 | Gastrin/CCK | Domain |
| IPR013152 | Gastrin/cholecystokinin_CS | Conserved_site |
| IPR039236 | GAST | Family |
Pfam: PF00918
UniProt features (22 total): peptide 6, modified residue 5, site 4, mutagenesis site 2, signal peptide 1, sequence variant 1, strand 1, propeptide 1, region of interest 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5WRJ | X-RAY DIFFRACTION | 2.31 |
| 7F8W | ELECTRON MICROSCOPY | 3.1 |
| 7XOW | ELECTRON MICROSCOPY | 3.1 |
| 7F8V | ELECTRON MICROSCOPY | 3.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P01350-F1 | 64.82 | 0.12 |
Antibody-complex structures (SAbDab): 2 — 7F8W, 7XOW
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (4): 58–59 (cleavage); 75–76 (cleavage); 95–96 (cleavage); 40–41 (cleavage)
Post-translational modifications (5): 59, 76, 87, 92, 96
Mutagenesis-validated functional residues (2):
| Position | Phenotype |
|---|---|
| 86 | small increase in ratio of gastrin-17 versus gastrin-34 production. no change in ratio of gastrin-17 versus gastrin-34 p |
| 87 | small decrease in ratio of gastrin-17 versus gastrin-34 production. no change in ratio of gastrin-17 versus gastrin-34 p |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-416476 | G alpha (q) signalling events |
| R-HSA-881907 | Gastrin-CREB signalling pathway via PKC and MAPK |
MSigDB gene sets: 76 (showing top):
BENPORATH_ES_WITH_H3K27ME3, ENK_UV_RESPONSE_KERATINOCYTE_UP, MODULE_64, GOBP_RESPONSE_TO_FOOD, BLALOCK_ALZHEIMERS_DISEASE_UP, MODULE_99, TGANTCA_AP1_C, NRF2_Q4, GOMF_SIGNALING_RECEPTOR_BINDING, NFE2_01, BOCHKIS_FOXA2_TARGETS, GOMF_HORMONE_ACTIVITY, REACTOME_G_ALPHA_Q_SIGNALLING_EVENTS, CAMPS_COLON_CANCER_COPY_NUMBER_UP, WUNDER_INFLAMMATORY_RESPONSE_AND_CHOLESTEROL_UP
GO Biological Process (3): signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), response to food (GO:0032094)
GO Molecular Function (2): hormone activity (GO:0005179), protein binding (GO:0005515)
GO Cellular Component (2): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| GPCR downstream signalling | 1 |
| G alpha (q) signalling events | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| G protein-coupled receptor activity | 1 |
| signal transduction | 1 |
| response to nutrient levels | 1 |
| response to chemical | 1 |
| receptor ligand activity | 1 |
| binding | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1452 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| GAST | CCKBR | P32239 | 999 |
| GAST | SST | P01166 | 990 |
| GAST | CCK | P06307 | 989 |
| GAST | GRP | P07491 | 967 |
| GAST | SCT | P09683 | 952 |
| GAST | CCKAR | P32238 | 952 |
| GAST | PPY | P01298 | 946 |
| GAST | GCG | P01275 | 935 |
| GAST | ATP12A | P54707 | 934 |
| GAST | ATP4A | P20648 | 934 |
| GAST | CCL28 | Q9NRJ3 | 923 |
| GAST | MLN | P12872 | 888 |
| GAST | INS | P01308 | 866 |
| GAST | VIP | P01282 | 847 |
| GAST | MEN1 | O00255 | 845 |
IntAct
79 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TF | GAST | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| GAST | TF | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| GAST | MMD | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAST | TMEM52B | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAST | AQP9 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAST | MUC1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAST | GOLM1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRT34 | GAST | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAST | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAST | BCL2L13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAST | CISD2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAST | SLC10A1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAST | FAM209A | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAST | GPR152 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAST | ERGIC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAST | PLP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAST | ASPH | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAST | PDZK1IP1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GAST | LHFPL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYB5R3 | GAST | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (46): GAST (Affinity Capture-MS), GAST (Affinity Capture-MS), GAST (Affinity Capture-MS), XAGE3 (Affinity Capture-MS), CROCCP2 (Affinity Capture-MS), ATE1 (Affinity Capture-MS), ZZEF1 (Affinity Capture-MS), ZER1 (Affinity Capture-MS), NME2P1 (Affinity Capture-MS), HECTD3 (Affinity Capture-MS), GAST (Two-hybrid), GAST (Two-hybrid), GAST (Two-hybrid), GAST (Two-hybrid), GAST (Two-hybrid)
ESM2 similar proteins: A5PK62, C9JXX5, D2HJ50, P01350, P01351, P01352, P01353, P07480, P0C171, P0DJK0, P0DJK1, P0DM27, P0DW18, P10683, P11242, P20800, P22389, P22466, P23943, P47212, P55885, Q08648, Q1RMJ9, Q5NRP8, Q5NRQ0, Q6PDA7, Q765Z5, Q810H5, Q867A9, Q867D0, Q8CF31, Q8K1M5, Q8MJV4, Q8MJW9, Q8QGA2, Q8SQD7, Q8T0Y7, Q924A4, Q969E3, Q96A98
Diamond homologs: O02686, P01350, P01351, P01352, P01353, P01354, P04563, P04564, P06885, P0C228, P10034, P33713, P33714, P48757, P55885, P80111
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GAST | “up-regulates quantity by expression” | SLC4A2 | “transcriptional regulation” |
| GAST | “up-regulates quantity by expression” | EGR1 | “transcriptional regulation” |
| GAST | up-regulates | CCKBR | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
22 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 16 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
267 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 17:41715430:A:AG | acceptor_gain | 1.0000 |
| 17:41715431:G:GG | acceptor_gain | 1.0000 |
| 17:41715431:GAC:G | acceptor_gain | 1.0000 |
| 17:41715431:GACGA:G | acceptor_gain | 1.0000 |
| 17:41715426:TTGCA:T | acceptor_loss | 0.9900 |
| 17:41715427:TGCA:T | acceptor_loss | 0.9900 |
| 17:41715428:GCAGA:G | acceptor_loss | 0.9900 |
| 17:41715429:CAGAC:C | acceptor_loss | 0.9900 |
| 17:41715430:AGA:A | acceptor_loss | 0.9900 |
| 17:41715430:AGAC:A | acceptor_gain | 0.9900 |
| 17:41715431:GACG:G | acceptor_gain | 0.9900 |
| 17:41715777:GACCC:G | acceptor_gain | 0.9900 |
| 17:41712385:CAGGT:C | donor_loss | 0.9800 |
| 17:41712386:AG:A | donor_loss | 0.9800 |
| 17:41712387:GGTGA:G | donor_loss | 0.9800 |
| 17:41712388:G:T | donor_loss | 0.9800 |
| 17:41712389:T:G | donor_loss | 0.9800 |
| 17:41715431:GA:G | acceptor_gain | 0.9800 |
| 17:41715776:A:AG | acceptor_gain | 0.9800 |
| 17:41715777:G:GA | acceptor_gain | 0.9800 |
| 17:41715505:G:GT | donor_gain | 0.9700 |
| 17:41715772:CCTCA:C | acceptor_loss | 0.9700 |
| 17:41715773:CTCA:C | acceptor_loss | 0.9700 |
| 17:41715774:TCA:T | acceptor_loss | 0.9700 |
| 17:41715775:CA:C | acceptor_loss | 0.9700 |
| 17:41715776:A:AC | acceptor_loss | 0.9700 |
| 17:41715427:T:TA | acceptor_gain | 0.9500 |
| 17:41715472:ACT:A | acceptor_gain | 0.9400 |
| 17:41712384:GCAG:G | donor_gain | 0.9300 |
| 17:41712388:G:GG | donor_gain | 0.9200 |
AlphaMissense
643 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 17:41715833:G:C | W89C | 0.992 |
| 17:41715833:G:T | W89C | 0.992 |
| 17:41715840:T:C | F92L | 0.991 |
| 17:41715842:C:A | F92L | 0.991 |
| 17:41715842:C:G | F92L | 0.991 |
| 17:41715831:T:A | W89R | 0.977 |
| 17:41715831:T:C | W89R | 0.977 |
| 17:41715841:T:G | F92C | 0.977 |
| 17:41715835:T:C | M90T | 0.973 |
| 17:41715836:G:A | M90I | 0.973 |
| 17:41715836:G:C | M90I | 0.973 |
| 17:41715836:G:T | M90I | 0.973 |
| 17:41715838:A:T | D91V | 0.960 |
| 17:41715846:C:A | R94S | 0.960 |
| 17:41715837:G:C | D91H | 0.955 |
| 17:41715841:T:C | F92S | 0.945 |
| 17:41715839:C:A | D91E | 0.943 |
| 17:41715839:C:G | D91E | 0.943 |
| 17:41715844:G:A | G93D | 0.941 |
| 17:41715840:T:A | F92I | 0.936 |
| 17:41715844:G:T | G93V | 0.932 |
| 17:41715838:A:C | D91A | 0.928 |
| 17:41715849:C:A | R95S | 0.923 |
| 17:41715840:T:G | F92V | 0.920 |
| 17:41715838:A:G | D91G | 0.919 |
| 17:41715847:G:C | R94P | 0.919 |
| 17:41715832:G:C | W89S | 0.915 |
| 17:41715843:G:T | G93C | 0.907 |
| 17:41715843:G:C | G93R | 0.904 |
| 17:41715832:G:T | W89L | 0.895 |
dbSNP variants (sampled 300 via entrez): RS1000619331 (17:41710715 T>C), RS1000881878 (17:41711373 G>A), RS1001488657 (17:41712510 G>C), RS1003789706 (17:41714356 A>G), RS1004226549 (17:41714015 C>T), RS1004328848 (17:41714317 T>C,G), RS1004681923 (17:41712429 G>A), RS1005372308 (17:41710495 T>C,G), RS1005577177 (17:41713060 C>T), RS1006667363 (17:41711493 G>A), RS1007525829 (17:41711023 T>A,C,G), RS1007741269 (17:41716376 G>A), RS1008056228 (17:41710864 G>A,C), RS1008116903 (17:41711735 G>C), RS1008187995 (17:41713536 A>G)
Disease associations
OMIM: gene MIM:137250 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
0 associations (top):
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Cadmium Chloride | decreases expression, increases expression | 2 |
| Lansoprazole | increases expression | 2 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| lead acetate | decreases reaction, increases expression | 1 |
| beta-lapachone | increases expression | 1 |
| sodium arsenite | increases expression | 1 |
| cobaltous chloride | increases expression, increases reaction | 1 |
| butyraldehyde | increases expression | 1 |
| ciglitazone | decreases reaction, increases expression | 1 |
| 4-((3-bromophenyl)amino)-6,7-dimethoxyquinazoline | decreases reaction, increases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one | decreases reaction, increases expression | 1 |
| RTKI cpd | increases expression, decreases reaction | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| PKF115-584 | increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| Resveratrol | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Benzo(a)pyrene | increases methylation | 1 |
| Cadmium | increases expression | 1 |
| Calcium | increases reaction, increases secretion | 1 |
| Camptothecin | increases expression | 1 |
| Carmustine | decreases expression | 1 |
| Cimetidine | affects expression | 1 |
| Cisplatin | affects cotreatment, increases expression | 1 |
| Copper | increases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Estradiol | affects cotreatment, increases expression | 1 |
| Colforsin | increases secretion, decreases reaction, increases reaction | 1 |
| Mustard Gas | increases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.