GRP
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Summary
GRP (gastrin releasing peptide, HGNC:4605) is a protein-coding gene on chromosome 18q21.32, encoding Gastrin-releasing peptide (P07492). Stimulates the release of gastrin and other gastrointestinal hormones.
This gene encodes a member of the bombesin-like family of gastrin-releasing peptides. The encoded preproprotein is proteolytically processed to generate two peptides, gastrin-releasing peptide and neuromedin-C. These peptides regulate numerous functions of the gastrointestinal and central nervous systems, including release of gastrointestinal hormones, smooth muscle cell contraction, and epithelial cell proliferation. These peptides are also likely to play a role in human cancers of the lung, colon, stomach, pancreas, breast, and prostate. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed.
Source: NCBI Gene 2922 — RefSeq curated summary.
At a glance
- Clinical variants (ClinVar): 20 total
- MANE Select transcript:
NM_002091
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:4605 |
| Approved symbol | GRP |
| Name | gastrin releasing peptide |
| Location | 18q21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000134443 |
| Ensembl biotype | protein_coding |
| OMIM | 137260 |
| Entrez | 2922 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 5 protein_coding
ENST00000256857, ENST00000420468, ENST00000456142, ENST00000529320, ENST00000530323
RefSeq mRNA: 3 — MANE Select: NM_002091
NM_001012512, NM_001012513, NM_002091
CCDS: CCDS11971, CCDS45877, CCDS45878
Canonical transcript exons
ENST00000256857 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000914709 | 59220158 | 59220404 |
| ENSE00000914710 | 59225492 | 59225734 |
| ENSE00001790601 | 59230404 | 59230771 |
Expression profiles
Bgee: expression breadth ubiquitous, 158 present calls, max score 89.42.
FANTOM5 (CAGE): breadth broad, TPM avg 6.9740 / max 2139.2959, expressed in 209 samples.
FANTOM5 promoters (3 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 170470 | 6.9398 | 205 |
| 170469 | 0.0255 | 12 |
| 170471 | 0.0086 | 4 |
Top tissues by expression
277 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 89.42 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 87.92 | gold quality |
| hair follicle | UBERON:0002073 | 85.06 | gold quality |
| type B pancreatic cell | CL:0000169 | 84.65 | gold quality |
| olfactory bulb | UBERON:0002264 | 84.31 | gold quality |
| mucosa of stomach | UBERON:0001199 | 84.14 | gold quality |
| buccal mucosa cell | CL:0002336 | 80.68 | gold quality |
| decidua | UBERON:0002450 | 79.54 | gold quality |
| cartilage tissue | UBERON:0002418 | 78.80 | gold quality |
| male germ cell | CL:0000015 | 78.11 | gold quality |
| sperm | CL:0000019 | 77.32 | gold quality |
| diaphragm | UBERON:0001103 | 76.13 | gold quality |
| epithelium of mammary gland | UBERON:0003244 | 75.66 | gold quality |
| mammary duct | UBERON:0001765 | 75.22 | gold quality |
| cortical plate | UBERON:0005343 | 74.48 | gold quality |
| endometrium epithelium | UBERON:0004811 | 73.56 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 72.34 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 72.16 | gold quality |
| bronchus | UBERON:0002185 | 72.05 | gold quality |
| cingulate cortex | UBERON:0003027 | 72.03 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 71.81 | gold quality |
| tibia | UBERON:0000979 | 70.88 | gold quality |
| Ammon’s horn | UBERON:0001954 | 70.59 | gold quality |
| frontal pole | UBERON:0002795 | 69.44 | gold quality |
| paraflocculus | UBERON:0005351 | 69.31 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 68.88 | gold quality |
| prefrontal cortex | UBERON:0000451 | 68.18 | gold quality |
| amygdala | UBERON:0001876 | 67.80 | gold quality |
| bronchial epithelial cell | CL:0002328 | 67.74 | gold quality |
| hypothalamus | UBERON:0001898 | 67.73 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 3.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-15 | yes | 43479.21 |
| E-MTAB-8221 | yes | 19747.60 |
| E-CURD-114 | yes | 9142.51 |
| E-ANND-3 | no | 1.62 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
22 targeting GRP, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-513A-5P | 100.00 | 69.77 | 2465 |
| HSA-MIR-27A-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-27B-3P | 99.98 | 72.13 | 2955 |
| HSA-MIR-9985 | 99.98 | 72.11 | 2939 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-4422 | 99.72 | 72.07 | 2908 |
| HSA-MIR-7-5P | 99.67 | 70.53 | 1809 |
| HSA-MIR-208A-5P | 99.42 | 70.83 | 1913 |
| HSA-MIR-208B-5P | 99.42 | 70.83 | 1952 |
| HSA-MIR-130A-5P | 99.33 | 70.26 | 2623 |
| HSA-MIR-4520-2-3P | 99.14 | 69.28 | 1009 |
| HSA-MIR-6830-5P | 99.01 | 68.73 | 1884 |
| HSA-MIR-1257 | 98.97 | 68.02 | 1133 |
| HSA-MIR-3611 | 98.76 | 68.76 | 1290 |
| HSA-MIR-7850-5P | 98.12 | 67.28 | 1111 |
| HSA-MIR-4327 | 97.21 | 67.71 | 676 |
| HSA-MIR-4790-3P | 96.63 | 67.08 | 806 |
| HSA-MIR-4529-3P | 96.40 | 66.46 | 582 |
Literature-anchored findings (GeneRIF, showing 40)
- GRP/GRP-R play a transient and non-critical role in intestinal development (PMID:11960700)
- mRNA transcripts are expressed in tumor cells of patients with small cell lung cancer (PMID:12474049)
- ProGRP is a valuable tumour marker for the detection and monitoring of small cell lung cancer (SCLC) and a good tool for discriminating non-small cell lung cancer (NSCLC) versus SCLC (PMID:12820318)
- results show that Pro-GRP may be a potential tumor marker for small cell lung carcinoma (PMID:12820319)
- Mitogenic effects of GRP in head and neck squamous cells are mediated by activation of the epidermal growth factor receptor. (PMID:13679857)
- GRP is over-expressed in esophageal squamous cell carcinoma, and its over-expression may play a role in such carcinoma development and growth (PMID:14764456)
- Measuring serum levels in lung cancer patients may be useful in drug therapy monitoring. (PMID:15638385)
- GRP is a new angiogenic peptide and that its inhibition offers an attractive tool to reduce tumor burden. (PMID:15750618)
- An increase in GRP binding capacity, as a result of GRP-R overexpression, down-regulates PTEN expression. Inhibition of the tumor suppressor gene PTEN may be an important regulatory mechanism involved in GRP-induced cell proliferation in neuroblastomas. (PMID:15849504)
- BN/GRP and substance P are involved together with cytokines in the neuroimmunomodulation that occurs in the arthritic joint. (PMID:15899028)
- results show that TACE undergoes phosphorylation that regulates release of amphiregulin upon GRP treatment; a signaling cascade of GRP-Src-PI3-K-PDK1-TACE-amphiregulin-EGFR with multiple points of interaction, translocation & phosphorylation is suggested (PMID:16641105)
- First evidence is provided that the calcium-ion/calcineurin/NFAT-linked pathway is involved in bombesin-mediated induction of Cox-2, a gene that promotes colon carcinoma invasiveness. (PMID:16909108)
- GRP upregulation of ICAM-1 via FAK promotes tumor cell motility and attachment to the extracellular matrix. (PMID:16920698)
- BN/GRP is produced by non-neuronal cells in the synovial tissue in rheumatoid and osteoarthritis (PMID:18289674)
- GRP-induced up-regulation of Hsp72 promotes CD16+/94+ natural killer cell binding to colon cancer cells causing tumor cell cytolysis. (PMID:18350254)
- genes encoding corticotropin releasing hormone receptor 1, tachykinin receptor 1, gastrin releasing peptide, and gastrin releasing peptide receptor were selected as candidates for PD based on their biology (PMID:18452185)
- Gastrin-releasing peptide and neuromedin B, which are found in axons in the mediobasal hypothalamus and may also be released from the gut to signal the brain, show strong direct excitatory actions on neuropeptide Y neurons. (PMID:19357287)
- Tumor marker determination, incluidng ProGRP, in patients with suspicious signs of lung cancer suggests, in a few hours, the histological diagnosis in the majority of lung cancer patients. (PMID:19506400)
- Data indicate that various serum proGRP fragments are promising tools for future investigations on the relationship between fragment distribution and diagnosis and prognosis. (PMID:19907206)
- GRP promotes the growth of HepG2 cells through interaction with GRPR co-expressed in tumor cells, and subsequently activates MAPK/ERK1/2 via EGFR-independent mechanisms. (PMID:20596631)
- Gastrin-releasing peptide is elevated in prostate neoplasm patients undergoing androgen deprivation therapy and may be involved in the initiation of hormonal escape prostate neoplasms. (PMID:20945407)
- Results describe the mRNA expression of CRABP1, RERG, and GRP in pituitary adenomas. (PMID:21270509)
- Abrogating GRP/GRPR signaling specifically down-regulates HP1(Hsbeta) expression and inhibiting GRPR signaling, or ablating HP1(Hsbeta) expression, increases colon cancer cell invasiveness in vitro. (PMID:21281799)
- proGRP is a complementary tumour marker for prognosis and treatment monitoring in patients with neuroendocrine tumour (PMID:21415235)
- serum-positive non-small-cell lung cancers may have neuroendocrine differentiation (PMID:21529988)
- nonamidated peptides derived from the C terminus of pro-GRP are expressed in significant quantities in colorectal cancer cell lines (PMID:22202166)
- Progastrin-releasing peptide cab be used as a marker for quality control in clinical sample processing and storage. (PMID:22261454)
- Percent changes in serum ProGRP showed better correlation to the sum of the tumor diameters (SOD) and prognostic impact than that of NSE. (PMID:22300752)
- Data indicate that progastrin-releasing peptide (proGRP) assays with both time-resolved immunofluorometric assay (TR-IFMA) and Advanced Life Science Institute (ALSI) ELISA showed good clinical validity. (PMID:22399443)
- Tonic stretch of human myometrium increases contractility and stimulates the expression of a known smooth muscle stimulatory agonist, GRP. GRP receptor antagonists attenuate the effect of stretch. (PMID:22411014)
- GRP serum level is higher in patients with pruritus in patients with atopic dermatitis. (PMID:23353988)
- The Gastrin-releasing peptide(GRP)triggers the growth of HepG2 cells through blocking the ER stress-mediated pathway. (PMID:23379566)
- inhibits the process of autophagy in vascular endothelial cells, thereby increasing endothelial cell proliferation and tubule formation (PMID:23608754)
- GRP-expressing C and A delta fibers that coexpress SP or CGRP makes these neurons pruriceptors. (PMID:23615431)
- The levels of GRP were upregulated in cells treated with HGF in a dose-dependent manner. HGF-induced expression of Ets-1 and IL-8 was increased more by GRP treatment. (PMID:23924923)
- GRP silencing decreases anchorage-independent growth, inhibits cell migration and neuroblastoma cell-mediated angiogenesis. (PMID:24039782)
- the role of autophagy in the degradation of gastrin-releasing peptide and subsequent inhibition of angiogenesis (PMID:24108003)
- High serum proGRP levels are associated with small-cell lung cancer. (PMID:24375395)
- Our results suggest that progastrin inhibits the acquisition of a M2-phenotype in human macrophages. (PMID:24901518)
- No association of 16 GRP and 7 GRPR variants were found with agoraphobia with/without panic disorder. (PMID:24912045)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Grp | ENSMUSG00000024517 |
| rattus_norvegicus | Grp | ENSRNOG00000016999 |
Paralogs (1): NMB (ENSG00000197696)
Protein
Protein identifiers
Gastrin-releasing peptide — P07492 (reviewed: P07492)
All UniProt accessions (4): A0A140VJM7, P07492, H0Y5C5, H0YCH3
UniProt curated annotations — full annotation on UniProt →
Function. Stimulates the release of gastrin and other gastrointestinal hormones. Contributes to the perception of prurient stimuli and to the transmission of itch signals in the spinal cord that promote scratching behavior. Contributes primarily to nonhistaminergic itch sensation. In one study, shown to act in the amygdala as part of an inhibitory network which inhibits memory specifically related to learned fear. In another study, shown to act on vasoactive intestinal peptide (VIP)-expressing cells in the auditory cortex, most likely via extrasynaptic diffusion from local and long-range sources, to mediate disinhibition of glutamatergic cells via VIP cell-specific GRPR signaling which leads to enhanced auditory fear memories. Contributes to the regulation of food intake. Inhibits voltage-gated sodium channels but enhances voltage-gated potassium channels in hippocampal neurons. Induces sighing by acting directly on the pre-Botzinger complex, a cluster of several thousand neurons in the ventrolateral medulla responsible for inspiration during respiratory activity. Induces an itch response through activation of receptors present on mast cells, triggering mast cell degranulation.
Subcellular location. Secreted. Cytoplasmic vesicle. Secretory vesicle lumen. Cell projection. Neuron projection.
Similarity. Belongs to the bombesin/neuromedin-B/ranatensin family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| P07492-1 | 1 | yes |
| P07492-2 | 2 | |
| P07492-3 | 3 |
RefSeq proteins (3): NP_001012530, NP_001012531, NP_002082* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000874 | Bombesin | Family |
Pfam: PF02044
UniProt features (10 total): peptide 2, splice variant 2, signal peptide 1, propeptide 1, region of interest 1, modified residue 1, sequence variant 1, helix 1
Structure
Experimental structures (PDB)
9 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 7W3Z | ELECTRON MICROSCOPY | 3 |
| 8H0Q | ELECTRON MICROSCOPY | 3.3 |
| 2N0B | SOLUTION NMR | |
| 2N0C | SOLUTION NMR | |
| 2N0D | SOLUTION NMR | |
| 2N0E | SOLUTION NMR | |
| 2N0F | SOLUTION NMR | |
| 2N0G | SOLUTION NMR | |
| 2N0H | SOLUTION NMR |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P07492-F1 | 64.82 | 0.08 |
Antibody-complex structures (SAbDab): 2 — 7W3Z, 8H0Q
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Post-translational modifications (1): 50
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-375276 | Peptide ligand-binding receptors |
| R-HSA-381771 | Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1) |
| R-HSA-416476 | G alpha (q) signalling events |
MSigDB gene sets: 176 (showing top):
ATF_B, GOBP_RESPIRATORY_GASEOUS_EXCHANGE_BY_RESPIRATORY_SYSTEM, GOBP_BEHAVIOR, GOCC_SECRETORY_GRANULE, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_NEGATIVE_REGULATION_OF_NERVOUS_SYSTEM_PROCESS, GOBP_HORMONE_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_BEHAVIOR, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_LEUKOCYTE_MEDIATED_IMMUNITY, GOBP_MULTICELLULAR_ORGANISMAL_RESPONSE_TO_STRESS, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_ACTIVATION_INVOLVED_IN_IMMUNE_RESPONSE, MAHAJAN_RESPONSE_TO_IL1A_DN, REACTOME_PEPTIDE_LIGAND_BINDING_RECEPTORS
GO Biological Process (11): signal transduction (GO:0007165), neuropeptide signaling pathway (GO:0007218), social behavior (GO:0035176), psychomotor behavior (GO:0036343), response to external biotic stimulus (GO:0043207), mast cell degranulation (GO:0043303), negative regulation of transmission of nerve impulse (GO:0051970), positive regulation of peptide hormone secretion (GO:0090277), positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway (GO:1900738), positive regulation of respiratory gaseous exchange (GO:1903942), positive regulation of behavioral fear response (GO:2000987)
GO Molecular Function (3): signaling receptor binding (GO:0005102), neuropeptide hormone activity (GO:0005184), protein binding (GO:0005515)
GO Cellular Component (6): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), secretory granule lumen (GO:0034774), neuron projection (GO:0043005), cytoplasmic vesicle (GO:0031410), cell projection (GO:0042995)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| Class A/1 (Rhodopsin-like receptors) | 1 |
| Incretin synthesis, secretion, and inactivation | 1 |
| GPCR downstream signalling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| G protein-coupled receptor signaling pathway | 1 |
| behavior | 1 |
| biological process involved in intraspecies interaction between organisms | 1 |
| motor behavior | 1 |
| response to external stimulus | 1 |
| response to biotic stimulus | 1 |
| mast cell activation involved in immune response | 1 |
| mast cell mediated immunity | 1 |
| lysosome localization | 1 |
| leukocyte degranulation | 1 |
| establishment of organelle localization | 1 |
| negative regulation of cell communication | 1 |
| transmission of nerve impulse | 1 |
| negative regulation of nervous system process | 1 |
| regulation of transmission of nerve impulse | 1 |
| positive regulation of peptide secretion | 1 |
| peptide hormone secretion | 1 |
| positive regulation of hormone secretion | 1 |
| regulation of peptide hormone secretion | 1 |
| phospholipase C-activating G protein-coupled receptor signaling pathway | 1 |
| positive regulation of G protein-coupled receptor signaling pathway | 1 |
| regulation of phospholipase C-activating G protein-coupled receptor signaling pathway | 1 |
| respiratory gaseous exchange by respiratory system | 1 |
| regulation of respiratory gaseous exchange | 1 |
| positive regulation of multicellular organismal process | 1 |
| behavioral fear response | 1 |
| positive regulation of defense response | 1 |
| positive regulation of behavior | 1 |
| positive regulation of fear response | 1 |
| regulation of behavioral fear response | 1 |
| protein binding | 1 |
| hormone activity | 1 |
| neuropeptide activity | 1 |
| binding | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| GRP | ALX1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GRP | ALX1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (2): GRP (Protein-peptide), ALX1 (Two-hybrid)
ESM2 similar proteins: O02686, O43555, O97655, O97686, P01142, P01143, P01297, P01351, P01352, P01353, P01354, P06296, P06850, P07492, P08949, P08989, P09683, P11384, P13083, P24393, P47851, P55089, P61312, P63152, P63153, P63298, P68248, P81264, P81277, P81278, P83859, P83860, P83862, Q08535, Q15726, Q2T9U8, Q6Y4S4, Q7TNK8, Q7TSB7, Q7Z4H4
Diamond homologs: P01295, P07492, P08949, P08989, P24393, P29007, P31886, P47851, P63152, P63153, Q863C3, Q8R1I2, P09472, Q9PS30, Q2T9U8
SIGNOR signaling
1 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| GRP | up-regulates | GRPR | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
20 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 15 |
| Likely benign | 2 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
0 predictions. Top by Δscore:
AlphaMissense
941 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 18:59220397:G:C | W44C | 0.996 |
| 18:59220397:G:T | W44C | 0.996 |
| 18:59225502:G:A | M50I | 0.989 |
| 18:59225502:G:C | M50I | 0.989 |
| 18:59225502:G:T | M50I | 0.989 |
| 18:59225498:T:C | L49S | 0.988 |
| 18:59220395:T:A | W44R | 0.984 |
| 18:59220395:T:C | W44R | 0.984 |
| 18:59220404:G:A | G47R | 0.982 |
| 18:59220404:G:C | G47R | 0.982 |
| 18:59225496:C:A | H48Q | 0.982 |
| 18:59225496:C:G | H48Q | 0.982 |
| 18:59225507:A:T | K52I | 0.982 |
| 18:59220404:G:T | G47W | 0.980 |
| 18:59225492:G:A | G47E | 0.980 |
| 18:59225508:A:C | K52N | 0.978 |
| 18:59225508:A:T | K52N | 0.978 |
| 18:59225503:G:A | G51R | 0.977 |
| 18:59225503:G:C | G51R | 0.977 |
| 18:59220394:C:A | H43Q | 0.976 |
| 18:59220394:C:G | H43Q | 0.976 |
| 18:59225492:G:T | G47V | 0.976 |
| 18:59225501:T:C | M50T | 0.976 |
| 18:59220386:G:C | G41R | 0.971 |
| 18:59225494:C:G | H48D | 0.971 |
| 18:59225503:G:T | G51W | 0.970 |
| 18:59220386:G:T | G41C | 0.969 |
| 18:59220391:C:A | N42K | 0.969 |
| 18:59220391:C:G | N42K | 0.969 |
| 18:59220392:C:G | H43D | 0.969 |
dbSNP variants (sampled 300 via entrez): RS1000061458 (18:59218959 G>A), RS1000209299 (18:59231067 T>A,C), RS1000413706 (18:59225232 A>G,T), RS1000657195 (18:59222590 A>G,T), RS1001015781 (18:59226859 C>A,G,T), RS1001063414 (18:59220300 C>G,T), RS1001533643 (18:59226524 C>T), RS1001610644 (18:59218026 T>C), RS1001873445 (18:59221290 G>C), RS1002194279 (18:59223483 G>T), RS1002218910 (18:59227842 G>C,T), RS1003465950 (18:59222183 C>T), RS1003483538 (18:59229212 G>A), RS1003710762 (18:59224994 TA>T,TAA), RS1003759393 (18:59222500 G>C)
Disease associations
OMIM: gene MIM:137260 | 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)
Binding affinities (BindingDB)
16 measured of 17 human assays (17 total across all organisms); most potent 16 below. Values come from heterogeneous assays and are not directly comparable.
| Ligand | Measure | Value |
|---|---|---|
| CAS_5490336 | KI | 0.36 nM |
| NSC_0 | KI | 0.82 nM |
| NSC_0 | KI | 2.3 nM |
| NSC_0 | KI | 2.8 nM |
| NSC_0 | KI | 8.2 nM |
| NSC_0 | KI | 12.3 nM |
| NSC_0 | KI | 15.8 nM |
| NSC_0 | KI | 24 nM |
| NSC_0 | KI | 85 nM |
| NSC_0 | KI | 107 nM |
| CAS_0 | KI | 110 nM |
| NSC_0 | KI | 490 nM |
| NSC_0 | KI | 708 nM |
| NSC_0 | KI | 776 nM |
| NSC_0 | KI | 2400 nM |
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases expression | 6 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | increases expression, increases methylation, affects methylation | 2 |
| methylmercuric chloride | decreases expression | 1 |
| propionaldehyde | increases expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | increases methylation | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| Ro 31-8220 | increases chemical synthesis, increases reaction | 1 |
| bisindolylmaleimide I | increases chemical synthesis, increases reaction | 1 |
| Go 6976 | increases reaction, increases chemical synthesis | 1 |
| rottlerin | increases chemical synthesis, increases reaction | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| marimastat | decreases reaction, increases cleavage, increases secretion | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| 2-(1-(3-dimethylaminopropyl)-5-methoxyindol-3-yl)-3-(1H-indol-3-yl)maleimide | increases chemical synthesis, increases reaction | 1 |
| A 419259 | increases secretion, increases activity, increases phosphorylation, decreases reaction, increases cleavage | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | affects cotreatment, decreases methylation | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Vorinostat | increases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Inositol Phosphates | increases chemical synthesis, increases reaction, decreases reaction | 1 |
| Plant Extracts | affects cotreatment, decreases 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.