GHRH

Summary

GHRH (growth hormone releasing hormone, HGNC:4265) is a protein-coding gene on chromosome 20q11.23, encoding Somatoliberin (P01286). GRF is released by the hypothalamus and acts on the adenohypophyse to stimulate the secretion of growth hormone.

This gene encodes a member of the glucagon family of proteins. The encoded preproprotein is produced in the hypothalamus and cleaved to generate the mature factor, known as somatoliberin, which acts to stimulate growth hormone release from the pituitary gland. Variant receptors for somatoliberin have been found in several types of tumors, and antagonists of these receptors can inhibit the growth of the tumors. Defects in this gene are a cause of dwarfism, while hypersecretion of the encoded protein is a cause of gigantism. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed.

Source: NCBI Gene 2691 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 17 total
• MANE Select transcript: NM_021081

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:4265
Approved symbol	GHRH
Name	growth hormone releasing hormone
Location	20q11.23
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000118702
Ensembl biotype	protein_coding
OMIM	139190
Entrez	2691

Gene structure

Transcript identifiers

Ensembl transcripts: 4 — 4 protein_coding

ENST00000237527, ENST00000373614, ENST00000903920, ENST00000964612

RefSeq mRNA: 2 — MANE Select: NM_021081 NM_001184731, NM_021081

CCDS: CCDS13292, CCDS54460

Canonical transcript exons

ENST00000373614 — 5 exons

Exon	Start	End
ENSE00000800497	37254210	37254329
ENSE00000800498	37256394	37256498
ENSE00001271727	37251086	37251231
ENSE00001461030	37256807	37256908
ENSE00001461031	37261743	37261814

Expression profiles

Bgee: expression breadth broad, 84 present calls, max score 89.61.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0138 / max 3.9484, expressed in 6 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
187174	0.0138	6

Top tissues by expression

246 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.61	gold quality
right atrium auricular region	UBERON:0006631	76.56	gold quality
cardiac atrium	UBERON:0002081	74.60	gold quality
pancreatic ductal cell	CL:0002079	67.63	silver quality
duodenum	UBERON:0002114	63.09	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	62.90	gold quality
hypothalamus	UBERON:0001898	61.72	gold quality
endometrium epithelium	UBERON:0004811	61.52	gold quality
apex of heart	UBERON:0002098	60.90	gold quality
gluteal muscle	UBERON:0002000	60.58	gold quality
triceps brachii	UBERON:0001509	60.51	gold quality
granulocyte	CL:0000094	58.70	gold quality
esophagus squamous epithelium	UBERON:0006920	58.52	gold quality
epithelium of esophagus	UBERON:0001976	57.74	gold quality
jejunal mucosa	UBERON:0000399	57.49	gold quality
heart right ventricle	UBERON:0002080	57.12	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	57.02	gold quality
cartilage tissue	UBERON:0002418	56.98	gold quality
trabecular bone tissue	UBERON:0002483	56.75	gold quality
parotid gland	UBERON:0001831	56.52	gold quality
buccal mucosa cell	CL:0002336	56.44	gold quality
diaphragm	UBERON:0001103	56.31	gold quality
nasal cavity epithelium	UBERON:0005384	56.10	gold quality
postcentral gyrus	UBERON:0002581	55.85	gold quality
quadriceps femoris	UBERON:0001377	55.60	gold quality
vastus lateralis	UBERON:0001379	55.16	gold quality
ileal mucosa	UBERON:0000331	55.06	silver quality
sperm	CL:0000019	54.50	gold quality
male germ cell	CL:0000015	54.41	gold quality
entorhinal cortex	UBERON:0002728	54.20	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.46

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): AR, CREB1, GSX1, HOXB7, IKZF1, NFATC2, NFATC3

miRNA regulators (miRDB)

11 targeting GHRH, 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-590-3P	99.96	74.34	6478
HSA-MIR-651-3P	99.94	73.48	5177
HSA-MIR-10393-3P	99.72	66.56	961
HSA-MIR-6801-5P	99.72	66.50	981
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-10395-3P	98.10	66.70	1726
HSA-MIR-4665-5P	97.91	67.69	1536
HSA-MIR-582-3P	96.69	67.38	1019
HSA-MIR-3675-5P	95.90	65.80	474

Literature-anchored findings (GeneRIF, showing 40)

• human GHRH is expressed in experimental prostate neoplasms in mice; this could explain the effects of GHRH antagonists on growth of prostate cancer (PMID:12126741)
• expression in gastroenteropancreatic carcinomas (PMID:12186980)
• expressed in a subset of endometrial tumors, of the endometrioid type in particular; A paracrine/autocrine role for GHRH in the development of the disease should be considered (PMID:12213676)
• presence of GHRH and its tumoral receptor splice variants in prostate cancers suggests the possible existence of an autocrine mitogenic loop (PMID:12364462)
• GHRH is essential for the somatotrope cellular proliferation that normally occurs during development-REVIEW (PMID:12424433)
• Review. Growth hormone-releasing hormone (GHRH) is a hypothalamic hormone that is essential for normal expansion of the somatotrope lineage during pituitary development. (PMID:12511850)
• autocrine stimulatory loop between GHRH and SV1 variant of GHRH receptor in primary breast cancers (PMID:15362970)
• Endogenous GHRH is indispensable for the nocturnal augmentation of GH secretion, but that it is unlikely to participate in the genesis of slow-wave sleep. (PMID:15538933)
• GHRH operates as a growth factor in breast cancer and probably other cancers as well (PMID:17372203)
• GHRH enhanced the ghrelin-induced GH secretion but had no effect on cortisol secretion (PMID:18329818)
• Variations in GHRH splice variants may play a role in promoting the development of endometriosis. (PMID:18684444)
• GHRH interacts with ghrelin receptor GHS-R1a, and, in consequence, modifies the ghrelin-associated intracellular signaling pathway (PMID:19088192)
• There is a relationship between allelic variation in the gene encoding GHRH and bone density. (PMID:19487270)
• GHRH mRNA was found in transformed human endometriotic stromal cells. (PMID:19524226)
• Our study was conducted on putatively sporadic IGHD patients. Thus, the finding of a dominant mutation with incomplete penetrance is not in contrast with previous reports of a recessive inheritance of GHRHR mutations. (PMID:19622623)
• decreased GHRH-induced GH secretion has a role in cardiovascular disease in obese women (PMID:20150954)
• The common regenerative and neuroprotective effects of epidermal growth factor (EGF) and growth hormone releasing hormone peptide(GHRP)-6 are associated with their versatile pro-survival and pro-regenerative mechanisms. (PMID:20169434)
• growth hormone-releasing hormone has a role as a growth factor in diverse tissues and various tumors (PMID:20372804)
• GHRH stimulated the NF-kappa b transcription factor, which is not only known to activate angiogenic factors but also the expression of genes involved in encoding enzymes in the prostaglandin-synthesis pathway such as COX-2 and the iNOS (PMID:20518847)
• Results demonstrate that a positive correlation exists between the endocrine potency and the antiproliferative efficacy of GHRH antagonists in tumors strongly expressing pGHRH-R. (PMID:20633588)
• the juxtapositions between GHRH axonal varicosities may be functional synapses and may represent the morphological substrate of the synchronized release of GHRH in the human hypothalamus. (PMID:20673733)
• Pretreatment with GHRH for 12 days could restore pituitary responsiveness to GHRH either in healthy aged men and growth hormone-deficient adult patients. (PMID:20843274)
• A single nucleotide polymorphism (SNP) in GnRH shows relationship to central precocious puberty in Chinese Han girls. (PMID:20869425)
• Data show that GHRH can stimulate the secretion of IL-17 from human peripheral blood mononuclear cells. (PMID:21196925)
• Studies indicate that appropriate consideration should be given to genetic defects in GH-1, IGF-I and GHRH causing growth hormone (GH) deficiency. (PMID:21274339)
• The present paper will give an overview of the main cardiovascular actions of the ghrelin gene-derived peptides and of GHRH. (PMID:21478211)
• GHRH mutations were not identified in a selected cohort of patients with isolated GH deficiency, suggesting that, if they exist, they may be an extremely rare cause of isolated GH deficiency. (PMID:21715545)
• The pathomechanisms involved in the genetic defects at both ends of the GHRH-IGF-1 axis. (PMID:22423511)
• case Report: multiple endocrine neoplasia type 1 family characterized by primary hyperparathyroidism, in association with acromegaly because of ectopic GHRH secretion by a pancreatic neuroendocrine tumor in a young man. (PMID:23542451)
• After 20 weeks of GHRH administration, gamma-aminobutyric acid levels are increased in all brain regions, N-acetylaspartylglutamate levels are increased in the dorsolateral frontal cortex, and myoinositol levels are decreased in the posterior cingulate. (PMID:23689947)
• GHRH excess and blockade in X-LAG syndrome (PMID:26671997)
• GHRH and GHRH-R loops are involved in placental choriocarcinoma cell line viability and apoptosis through Akt and eIF2a pathways. (PMID:26917260)
• GHRH stimulates a ligand-independent activation of EGFR involving at least cAMP/PKA and Src family signaling pathways (PMID:27816751)
• GHRH analogs of the Miami series powerfully suppress tumor growth, but have only a weak endocrine GH inhibitory activity. The suppression of tumor growth could be induced in part by the downregulation of (PMID:28130121)
• Report a high rate of GHRH-R and GHRH expression in apocrine breast carcinomas. (PMID:28438614)
• GHRH and GHRH-R are expressed in human adipocytes and are negatively associated; GHRH at low doses may exert an anti-obesity effect by inhibiting HMSC differentiation in adipocytes and by increasing adipocyte lipolysis in an autocrine or paracrine pathway; these effects are mediated by GH and GH-R (PMID:28626214)
• GHRH expression was significantly increased in patients with temporal lobe epilepsy. Coimmunoprecipitation confirmed that GHRH interacted with GABAAalpha1 and GABAAbeta2 + 3. GHRH may play an important role in inhibiting seizures by activating GABAARs. (PMID:29273763)
• Study in Han Chinese population revealed that rs3755792 and rs7624906 variants at SST in smoking population and rs3755792 in drinking population presented significant association with hypertension incidence. rs6032470 at GHRH had a statistical association with ischemic stroke incidence in smoking population. (PMID:29426577)
• c.57+1G>A mutation in the GHRH receptor gene is associated with severe and congenital isolated GH deficiency. (PMID:29571594)
• P53 can suppress inflammation in a plethora of human tissues. Growth Hormone - Releasing Hormone is a hypothalamic peptide with a great capacity to affect the complex networks of cellular regulation via GHRH - specific receptors. GHRH antagonistic and agonistic analogs have been developed for clinical applications (PMID:30344124)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	ghrh	ENSDARG00000069481
mus_musculus	Ghrh	ENSMUSG00000027643
rattus_norvegicus	Ghrh	ENSRNOG00000007782

Paralogs (2): ADCYAP1 (ENSG00000141433), VIP (ENSG00000146469)

Protein

Protein identifiers

Somatoliberin — P01286 (reviewed: P01286)

Alternative names: Growth hormone-releasing factor, Growth hormone-releasing hormone, Somatocrinin, Somatorelin

All UniProt accessions (1): P01286

UniProt curated annotations — full annotation on UniProt →

Function. GRF is released by the hypothalamus and acts on the adenohypophyse to stimulate the secretion of growth hormone.

Subcellular location. Secreted.

Similarity. Belongs to the glucagon family.

Isoforms (2)

UniProt ID	Names	Canonical?
P01286-1	1	yes
P01286-2	2

RefSeq proteins (2): NP_001171660, NP_066567* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000532	Glucagon_GIP_secretin_VIP	Domain
IPR046963	VIP/GHRH-like	Family

Pfam: PF00123

UniProt features (10 total): propeptide 2, sequence variant 2, signal peptide 1, peptide 1, modified residue 1, splice variant 1, sequence conflict 1, helix 1

Structure

Experimental structures (PDB)

3 structures.

PDB	Method	Resolution (Å)
7CZ5	ELECTRON MICROSCOPY	2.6
5BQM	X-RAY DIFFRACTION	3.1
7V9M	ELECTRON MICROSCOPY	3.29

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P01286-F1	78.24	0.26

Antibody-complex structures (SAbDab): 2 — 7CZ5, 7V9M

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): 75

Function

Pathways and Gene Ontology

Reactome pathways

7 pathways

ID	Pathway
R-HSA-418555	G alpha (s) signalling events
R-HSA-420092	Glucagon-type ligand receptors
R-HSA-162582	Signal Transduction
R-HSA-372790	Signaling by GPCR
R-HSA-373080	Class B/2 (Secretin family receptors)
R-HSA-388396	GPCR downstream signalling
R-HSA-500792	GPCR ligand binding

MSigDB gene sets: 149 (showing top): GOBP_CIRCADIAN_RHYTHM, REACTOME_GLUCAGON_TYPE_LIGAND_RECEPTORS, GOBP_BEHAVIOR, GOBP_REGULATION_OF_DEVELOPMENTAL_GROWTH, GOBP_GROWTH, GOBP_REGULATION_OF_HORMONE_LEVELS, GOBP_RESPONSE_TO_FOOD, GOBP_HORMONE_TRANSPORT, GOBP_PITUITARY_GLAND_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_BEHAVIOR, RIZKI_TUMOR_INVASIVENESS_3D_DN, GOBP_FOREBRAIN_DEVELOPMENT, GOBP_CELL_CELL_SIGNALING, GOBP_REGULATION_OF_CIRCADIAN_RHYTHM, GOBP_ADENYLATE_CYCLASE_MODULATING_G_PROTEIN_COUPLED_RECEPTOR_SIGNALING_PATHWAY

GO Biological Process (15): adenylate cyclase-activating G protein-coupled receptor signaling pathway (GO:0007189), cell-cell signaling (GO:0007267), positive regulation of cell population proliferation (GO:0008284), adenohypophysis development (GO:0021984), growth hormone secretion (GO:0030252), response to food (GO:0032094), regulation of protein localization (GO:0032880), multicellular organism growth (GO:0035264), positive regulation of multicellular organism growth (GO:0040018), positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568), positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005), positive regulation of growth hormone secretion (GO:0060124), positive regulation of cAMP/PKA signal transduction (GO:0141163), hormone secretion (GO:0046879), positive regulation of hormone secretion (GO:0046887)

GO Molecular Function (6): neuropeptide hormone activity (GO:0005184), growth hormone-releasing hormone activity (GO:0016608), growth hormone-releasing hormone receptor binding (GO:0031770), peptide hormone receptor binding (GO:0051428), signaling receptor binding (GO:0005102), hormone activity (GO:0005179)

GO Cellular Component (4): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), terminal bouton (GO:0043195), perikaryon (GO:0043204)

Reactome top-level categories

Rollup of top-5 pathways:

Category	Pathways
Signaling by GPCR	2
GPCR downstream signalling	1
Class B/2 (Secretin family receptors)	1
Signal Transduction	1
GPCR ligand binding	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
hormone activity	2
cellular anatomical structure	2
adenylate cyclase-modulating G protein-coupled receptor signaling pathway	1
adenylate cyclase activator activity	1
cell communication	1
signaling	1
cell population proliferation	1
regulation of cell population proliferation	1
positive regulation of cellular process	1
pituitary gland development	1
anatomical structure development	1
peptide hormone secretion	1
response to nutrient levels	1
response to chemical	1
intracellular protein localization	1
regulation of localization	1
multicellular organismal process	1
developmental growth	1
multicellular organism growth	1
regulation of multicellular organism growth	1
positive regulation of developmental growth	1
positive regulation of multicellular organismal process	1
positive regulation of signal transduction	1
regulation of insulin-like growth factor receptor signaling pathway	1
insulin-like growth factor receptor signaling pathway	1
regulation of circadian sleep/wake cycle, REM sleep	1
circadian sleep/wake cycle, REM sleep	1
positive regulation of circadian sleep/wake cycle, sleep	1
growth hormone secretion	1
regulation of growth hormone secretion	1
positive regulation of peptide hormone secretion	1
cAMP/PKA signal transduction	1
regulation of cAMP/PKA signal transduction	1
positive regulation of intracellular signal transduction	1
hormone transport	1
signal release	1
positive regulation of cell communication	1
positive regulation of signaling	1
hormone secretion	1
regulation of hormone secretion	1

Protein interactions and networks

STRING

1163 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
GHRH	GHRHR	Q02643	999
GHRH	GHSR	Q92847	973
GHRH	SST	P01166	963
GHRH	GHRL	Q9UBU3	931
GHRH	VIP	P01282	930
GHRH	GH1	P01241	926
GHRH	IGF1	P01343	917
GHRH	CRH	P06850	909
GHRH	GCG	P01275	905
GHRH	PRL	P01236	884
GHRH	POMC	P01189	882
GHRH	TRH	P20396	876
GHRH	SCT	P09683	871
GHRH	GNRH1	P01148	858
GHRH	ADCYAP1	P18509	843

IntAct

4 interactions, top by confidence:

A	B	Type	Score
FAP	GHRH	psi-mi:“MI:0194”(cleavage reaction)	0.440
GHRH	DPP4	psi-mi:“MI:0194”(cleavage reaction)	0.440
GHRH	CDH23	psi-mi:“MI:0915”(physical association)	0.400

BioGRID (4): CDH23 (Affinity Capture-MS), GHRH (Positive Genetic), GHRH (Two-hybrid), GHRH (Reconstituted Complex)

ESM2 similar proteins: A0MLS4, A2BD09, A2D4U1, A2D670, A2T6K4, O14669, P01257, P01286, P02818, P02820, P02822, P27916, P41547, P51693, P63292, P70160, P84348, P84349, P84350, Q03157, Q0VCT2, Q2NL23, Q3KNT9, Q3TYX2, Q5HZE8, Q5T124, Q60549, Q64375, Q6AYE5, Q6BEG6, Q6BEG7, Q71SY6, Q76IQ4, Q7M742, Q7TNI2, Q86UD1, Q8JFY4, Q8K2B0, Q8QZR4, Q8R182

Diamond homologs: P01286, P01287, P07217, P09916, P16043, P41534, P63292, P63293, Q60549, P41585, P42692, O70176, P01282, P01283, P01284, P04566, P0DJ95, P13589, P16613, P18509, P32648, P32649, P41535, P45644, P48143, P48144, P81401, Q09169, Q29W19

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

17 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	15
Likely benign	0
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

565 predictions. Top by Δscore:

Variant	Effect	Δscore
20:37254325:TCTCT:T	acceptor_gain	1.0000
20:37254326:CTCT:C	acceptor_gain	1.0000
20:37254326:CTCTC:C	acceptor_gain	1.0000
20:37254327:TCTCT:T	acceptor_gain	1.0000
20:37254328:CT:C	acceptor_gain	1.0000
20:37254330:C:CC	acceptor_gain	1.0000
20:37256389:CTTA:C	donor_loss	1.0000
20:37256390:TTA:T	donor_loss	1.0000
20:37256391:TA:T	donor_loss	1.0000
20:37256392:A:AC	donor_gain	1.0000
20:37256392:AC:A	donor_gain	1.0000
20:37256392:ACC:A	donor_gain	1.0000
20:37256392:ACCC:A	donor_gain	1.0000
20:37256393:C:CC	donor_gain	1.0000
20:37256393:C:CG	donor_loss	1.0000
20:37256393:CC:C	donor_gain	1.0000
20:37256393:CCC:C	donor_gain	1.0000
20:37256393:CCCC:C	donor_gain	1.0000
20:37256393:CCCCT:C	donor_gain	1.0000
20:37256495:CATC:C	acceptor_gain	1.0000
20:37256497:TC:T	acceptor_gain	1.0000
20:37256498:CCTG:C	acceptor_gain	1.0000
20:37256499:C:CC	acceptor_gain	1.0000
20:37261737:TCTCA:T	donor_loss	1.0000
20:37261738:CTCA:C	donor_loss	1.0000
20:37261739:TCA:T	donor_loss	1.0000
20:37261740:CA:C	donor_loss	1.0000
20:37261741:A:T	donor_loss	1.0000
20:37261742:C:A	donor_loss	1.0000
20:37254329:TC:T	acceptor_loss	0.9900

AlphaMissense

711 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:37256471:G:C	F37L	0.974
20:37256471:G:T	F37L	0.974
20:37256473:A:G	F37L	0.974
20:37256457:C:G	R42P	0.967
20:37256433:G:T	A50D	0.950
20:37256472:A:C	F37C	0.946
20:37256430:C:G	R51P	0.943
20:37256461:A:C	Y41D	0.943
20:37256472:A:G	F37S	0.939
20:37256479:C:G	A35P	0.933
20:37256424:A:G	L53P	0.906
20:37256421:A:G	L54P	0.894
20:37256421:A:T	L54H	0.893
20:37256434:C:G	A50P	0.893
20:37256469:G:A	T38I	0.890
20:37256475:A:C	I36S	0.878
20:37256439:A:G	L48P	0.877
20:37256475:A:T	I36N	0.873
20:37256473:A:T	F37I	0.868
20:37256431:G:T	R51S	0.858
20:37256475:A:G	I36T	0.858
20:37256448:A:G	L45P	0.857
20:37256461:A:T	Y41N	0.852
20:37256880:A:G	W4R	0.844
20:37256880:A:T	W4R	0.844
20:37256473:A:C	F37V	0.835
20:37256460:T:G	Y41S	0.820
20:37256437:A:G	S49P	0.817
20:37256462:G:C	S40R	0.813
20:37256462:G:T	S40R	0.813

dbSNP variants (sampled 300 via entrez): RS1000132207 (20:37260753 T>C), RS1000143736 (20:37251217 C>G), RS1000374953 (20:37254473 A>G), RS1000495155 (20:37252662 G>T), RS1000565684 (20:37251491 A>G), RS1000719489 (20:37260790 G>A), RS1001500439 (20:37260234 G>A), RS1001688193 (20:37263118 G>A), RS1001843270 (20:37258362 C>T), RS1001956170 (20:37258167 C>T), RS1002132348 (20:37253852 G>C), RS1002337559 (20:37252350 A>G), RS1002802459 (20:37261564 C>T), RS1002862333 (20:37252109 G>T), RS1003193576 (20:37258830 C>T)

Disease associations

OMIM: gene MIM:139190 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST008839_36	Height	6.000000e-23

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

19 total (human), top 19 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
trichostatin A	affects cotreatment, decreases expression	2
Benzo(a)pyrene	affects methylation, decreases methylation	2
bisphenol A	increases expression	1
terbufos	increases methylation	1
butyraldehyde	increases expression	1
acipimox	affects response to substance	1
aflatoxin B2	decreases methylation	1
plY protein, Streptococcus pneumoniae	affects binding, decreases response to substance, increases activity	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
GH-RH(1-29), desaminotyrosyl(1)-ornithyl(12,21)-alpha-aminobutryic acid(15)-norleucyl(27)-aspartyl(28)-agmatine(29)-	affects binding, decreases response to substance, increases activity, increases abundance	1
Resveratrol	affects cotreatment, decreases expression	1
Vorinostat	decreases expression, affects cotreatment	1
Cyclic AMP	increases activity, affects binding, increases abundance	1
Fonofos	increases methylation	1
Fatty Acids, Nonesterified	affects response to substance	1
Parathion	increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Aflatoxin B1	increases methylation	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.