UCN

Summary

UCN (urocortin, HGNC:12516) is a protein-coding gene on chromosome 2p23.3, encoding Urocortin (P55089). Acts in vitro to stimulate the secretion of adrenocorticotropic hormone (ACTH).

This gene encodes a member of the sauvagine/corticotropin-releasing factor/urotensin I family. The encoded preproprotein is proteolytically processed to generate the mature peptide, an endogenous ligand for both corticotropin-releasing factor receptor 1 and corticotropin-releasing factor receptor 2. In the brain this peptide may be responsible for the effects of stress on appetite. This peptide may also play a role in mood disorders, neurodegeneration, and skeletal system disorders. In spite of the gene family name similarity, the product of this gene has no sequence similarity to urotensin-2.

Source: NCBI Gene 7349 — RefSeq curated summary.

At a glance

• GWAS associations: 1
• Clinical variants (ClinVar): 27 total
• MANE Select transcript: NM_003353

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:12516
Approved symbol	UCN
Name	urocortin
Location	2p23.3
Locus type	gene with protein product
Status	Approved
Aliases	UROC, UI, UCN1
Ensembl gene	ENSG00000163794
Ensembl biotype	protein_coding
OMIM	600945
Entrez	7349

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000296099

RefSeq mRNA: 1 — MANE Select: NM_003353 NM_003353

CCDS: CCDS1747

Canonical transcript exons

ENST00000296099 — 2 exons

Exon	Start	End
ENSE00001078304	27308160	27308445
ENSE00001078305	27307400	27307908

Expression profiles

Bgee: expression breadth ubiquitous, 164 present calls, max score 83.89.

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
middle temporal gyrus	UBERON:0002771	83.89	silver quality
Brodmann (1909) area 23	UBERON:0013554	82.10	silver quality
primary visual cortex	UBERON:0002436	80.92	gold quality
right frontal lobe	UBERON:0002810	79.74	gold quality
Brodmann (1909) area 9	UBERON:0013540	79.61	gold quality
nucleus accumbens	UBERON:0001882	79.07	gold quality
gastrocnemius	UBERON:0001388	78.63	gold quality
putamen	UBERON:0001874	78.44	gold quality
caudate nucleus	UBERON:0001873	78.41	gold quality
apex of heart	UBERON:0002098	78.35	gold quality
hindlimb stylopod muscle	UBERON:0004252	77.99	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	77.24	gold quality
amygdala	UBERON:0001876	77.18	gold quality
cingulate cortex	UBERON:0003027	77.07	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	77.06	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	76.85	gold quality
granulocyte	CL:0000094	76.78	gold quality
anterior cingulate cortex	UBERON:0009835	76.72	gold quality
muscle of leg	UBERON:0001383	76.12	gold quality
spinal cord	UBERON:0002240	74.97	gold quality
right lobe of liver	UBERON:0001114	74.96	gold quality
Ammon’s horn	UBERON:0001954	74.62	gold quality
telencephalon	UBERON:0001893	74.58	gold quality
heart left ventricle	UBERON:0002084	74.40	gold quality
occipital lobe	UBERON:0002021	74.39	gold quality
cerebral cortex	UBERON:0000956	74.14	gold quality
forebrain	UBERON:0001890	74.04	gold quality
cardiac ventricle	UBERON:0002082	74.04	gold quality
right adrenal gland	UBERON:0001233	74.02	gold quality
neocortex	UBERON:0001950	73.96	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	1.09

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
CRHR2	Activation

Upstream regulators (CollecTRI, top): AR, CEBPG, ELF1, ESR1, ESR2, GTF2I, NFKB, RELA

miRNA regulators (miRDB)

4 targeting UCN, 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-4447	99.85	67.81	2900
HSA-MIR-1275	99.47	67.90	2749
HSA-MIR-625-5P	99.02	68.64	2031
HSA-MIR-4477A	98.83	69.75	2952

Literature-anchored findings (GeneRIF, showing 40)

• a highly significant, but negative, correlation has been found between Ucn levels and gastric inflammation, suggesting that Ucn may exert an antiinflammatory effect in gastric mucosa (PMID:12519893)
• SCP and UCN are potent activators of the p42/44 MAPK pathway, with SRP able to induce phosphorylation of p42/44 MAPK as well, albeit not as pronounced (PMID:14519439)
• human cord blood-derived cultured mast cells (hCBMC) at 10 wk, but not at 2 wk, are immunocytochemically positive for CRH and UCN (PMID:14576187)
• Adipose tissue expressed urocortin and stresscopin, the predominant ligands of peripheral CRH-R2. (PMID:14764822)
• mRNA expression of urocortin was low during the last weeks of pregnancy in the placenta, myometrium and choriodecidua (PMID:15072543)
• urocortin may regulate uterine artery tone at mid gestation. (PMID:15784504)
• Urocortin peptide and mRNA was significantly increased in women with preeclampsia. (PMID:15924674)
• Urocortin potently suppressed the generation of angiotensin II-induced reactive oxygen species (ROS) in HUVECs. Tumor necrosis factor-alpha, interferon-gamma & pitavastatin increased the urocortin mRNA levels and its release from HUVECs. (PMID:16340217)
• CRH peptides can differentially influence hair follicle melanocyte behavior not only via CRH-R1 signaling but also by complex cross-talk between CRH-R1 and CRH-R2. (PMID:16675846)
• expression of UCN in extravillous trophoblast cells and the activation of the UCN gene promoter by the diacylglycerol/PKC pathway (PMID:16698078)
• The evidence that (i) UCN is highly expressed in the secretory phase of the endometrial cycle; (ii) cAMP & E(2) + MPA modulate secretion of UCN & (iii) UCN induces HESCs decidualization together suggest a possible role for UCN in endometrial physiology. (PMID:16920724)
• NPY, via NPY Y5 and to a lesser extent via the Y1 receptors, exerts a stimulatory action on Ucn1 cells in the nonpreganglionic Edinger-Westphal nucleus. (PMID:17154253)
• In allergic nasal mucosa, increased expression levels of urocortin and its receptors may contribute to increased mucosal swelling and vascular permeability, playing an important role in the pathogenesis of allergic rhinitis. (PMID:17597629)
• CRF-BP has distinct and separable binding surfaces for CRF and Ucn 1 (PMID:18234674)
• The Ucn1-mRNA level in non-preganglionic Edinger-Westphal nucleus neurons is about 9.12 times higher in male but unchanged in female suicide victims. (PMID:18329817)
• UCN inhibited the proliferation and promoted the apoptosis of endothelial cells and down-regulated VEGF expression in vivo via CRFR2. (PMID:18443956)
• Ucn showed a significant role in the regulation of local inflammation, proliferation, and relaxation of smooth muscle tone in different organs through activation of corticotropin releasing factor receptor 2 (CRFR2). (PMID:18670748)
• nuclear translocation of Ucn along with the loss of CRFR2 in epithelial cells and microvasculature of tumoral specimens may be involved in the pathobiology of renal cell carcinoma (PMID:19437022)
• The low amniotic fluid concentrations of urocortin at mid-trimester may be a signal of predisposition to preterm delivery. (PMID:19619932)
• reverses LPS-induced TNF-alpha release from trophoblast (PMID:19703147)
• Plasma urocortin 1 is elevated in heart failure (in proportion to the degree of cardiac dysfunction) in concert with the generalized neurohormonal activation seen in this condition. (PMID:19808377)
• Results suggest that urocortin concentrations in the amniotic fluid of genetic amniocentesis are not predictive of preterm labor and birth. (PMID:19893766)
• UCN is produced during the development of mesenchymal progenitor cells to osteoblasts and differentially regulated during culture as well as by differentiation factors. (PMID:19949969)
• Results demonstrate that plasma concentrations of UCN are significantly increased in patients with heart failure (HF). UCN may participate in the neurohumoral response of HF. (PMID:19961889)
• This article provides a review of the role of urocortins in normal cardiovascular physiology and in the pathophysiology of heart failure. (PMID:20363214)
• not found to be efficient in distinguishing endometrioma from other benign ovarian cysts or to be superior to CA125 in the diagnosis of endometrioma (PMID:20480172)
• Higher plasma levels of urocortin-1, but not urocortin-II, are associated with worse left ventricular diastolic performance in patients with chronic systolic heart failure. (PMID:20670842)
• Women with endometriosis show an impaired endometrial expression of CRH and Ucn mRNA. (PMID:21289256)
• Confirm the anti-inflammatory function of VIP, through the modulation of the expression of CRF system that impacts in a reduction of mediators with inflammatory/destructive functions. (PMID:21360527)
• Serum urocortin could not predict women who delivered preterm among women with signs of preterm labor. (PMID:22639902)
• in human melanoma HMV-II cells both CRF and Ucn1 regulate TRP1 gene expression via Nurr-1/Nur77 production, independent of pro-opiomelanocortin or alpha-melanocyte-stimulating hormone stimulation. (PMID:23416839)
• Urocortin expression inversely correlates with higher tumor grade and advanced tumor stage in gastric adenocarcinomas. (PMID:23531852)
• Dihydrotestosterone decrease the expression of urocortin in human umbilical vein endothelial cells. (PMID:23801677)
• Data suggest that low urocortin-1 concentration in midtrimester amniotic fluid is an early indicative marker of preterm birth. (PMID:23803006)
• Ucn is both an essential chondrocyte survival signal peptide and a chondroprotective agent in the presence of pro-apoptotic stimuli. (PMID:23846219)
• during the midluteal phase of the cycle, metformin may decrease the production of corticotropin-releasing hormone and UCN in the endometrium. (PMID:23987517)
• all neonates expressed UCN1 in the Edinger-Westphal nucleus independent of the degree of neuropathological injury. (PMID:24012814)
• A detailed conformational model for the CRF1R-Ucn1 complex based on the many ligand-receptor interactions determined was here and eventually revealed unique features of peptide ligand binding to class B GPCRs. (PMID:24290358)
• Cardioplegic arrest failed to induce cardiac myocyte overexpression of urocortin in diabetic hearts. (PMID:24954177)
• down-regulated expression in the placenta and maternal serum during intrahepatic cholestasis of pregnancy may impair the blood flow regulation of the utero-placental-fetal unit and contribute to fetal distress (PMID:25172671)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	uts1	ENSDARG00000014927
mus_musculus	Ucn	ENSMUSG00000038676
rattus_norvegicus	Ucn	ENSRNOG00000006090

Paralogs (1): CRH (ENSG00000147571)

Protein

Protein identifiers

Urocortin — P55089 (reviewed: P55089)

All UniProt accessions (1): P55089

UniProt curated annotations — full annotation on UniProt →

Function. Acts in vitro to stimulate the secretion of adrenocorticotropic hormone (ACTH). Binds with high affinity to CRF receptor types 1, 2-alpha, and 2-beta. Plays a role in the establishment of normal hearing thresholds. Reduces food intake and regulates ghrelin levels in gastric body and plasma.

Subunit / interactions. Interacts with CRHR1 and CRHR2 (via their N-terminal extracellular domain).

Subcellular location. Secreted.

Tissue specificity. Keratinocytes in epidermis and the outer and inner root sheaths of hair follicles, epithelium of sebaceous and sweat glands, erector pili muscle, cutaneous blood vessel walls, cutaneous nerves and dermal mononuclear cells. Detected in plasma cells in the lamia propria in colon mucosa (at protein level). Expressed in pituitary and adrenal glands. Detected in plasma cells in the lamia propria in colon mucosa.

Miscellaneous. Positive correlation between increased expression in colonic lamina propria and severity of inflammation in patients with ulcerative colitis.

Similarity. Belongs to the sauvagine/corticotropin-releasing factor/urotensin I family.

RefSeq proteins (1): NP_003344* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000187	CRF	Domain
IPR003620	Urocortin_CRF	Family
IPR018446	Corticotropin-releasing_fac_CS	Conserved_site

Pfam: PF00473

UniProt features (10 total): mutagenesis site 4, signal peptide 1, propeptide 1, peptide 1, region of interest 1, modified residue 1, helix 1

Structure

Experimental structures (PDB)

6 structures.

PDB	Method	Resolution (Å)
3N96	X-RAY DIFFRACTION	2.75
6PB1	ELECTRON MICROSCOPY	2.8
7TS0	ELECTRON MICROSCOPY	2.8
6PB0	ELECTRON MICROSCOPY	3
7TRY	ELECTRON MICROSCOPY	3.7
2RMF	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P55089-F1	69.24	0.27

Antibody-complex structures (SAbDab): 4 — 6PB0, 6PB1, 7TRY, 7TS0

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): 122

Mutagenesis-validated functional residues (4):

Position	Phenotype
116	reduced affinity for crhr1.
118	reduced affinity for crhr2.
119	strongly reduced affinity for crhr2.
122	reduced affinity for crhr2.

Function

Pathways and Gene Ontology

Reactome pathways

2 pathways

ID	Pathway
R-HSA-373080	Class B/2 (Secretin family receptors)
R-HSA-422085	Synthesis, secretion, and deacylation of Ghrelin

MSigDB gene sets: 287 (showing top): ATF_B, GOBP_POSITIVE_REGULATION_OF_CALCIUM_ION_TRANSPORT, GOBP_POSITIVE_REGULATION_OF_DNA_REPLICATION, GOBP_NEGATIVE_REGULATION_OF_NEURON_APOPTOTIC_PROCESS, BENPORATH_ES_WITH_H3K27ME3, GOBP_COGNITION, WWTAAGGC_UNKNOWN, GOBP_BEHAVIOR, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_RESPONSE_TO_ESTRADIOL, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_SENSORY_PERCEPTION_OF_MECHANICAL_STIMULUS, GOBP_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC, GOBP_RESPONSE_TO_CORTICOSTEROID, GOBP_ASSOCIATIVE_LEARNING

GO Biological Process (40): startle response (GO:0001964), response to oxidative stress (GO:0006979), G protein-coupled receptor signaling pathway (GO:0007186), neuropeptide signaling pathway (GO:0007218), female pregnancy (GO:0007565), sensory perception of sound (GO:0007605), associative learning (GO:0008306), aerobic respiration (GO:0009060), negative regulation of gene expression (GO:0010629), response to auditory stimulus (GO:0010996), positive regulation of cell growth (GO:0030307), neuron projection development (GO:0031175), negative regulation of appetite (GO:0032099), response to estradiol (GO:0032355), positive regulation of interleukin-6 production (GO:0032755), positive regulation of collagen biosynthetic process (GO:0032967), social behavior (GO:0035176), vasodilation (GO:0042311), drinking behavior (GO:0042756), positive regulation of vascular permeability (GO:0043117), negative regulation of neuron apoptotic process (GO:0043524), positive regulation of translation (GO:0045727), positive regulation of DNA replication (GO:0045740), negative regulation of blood pressure (GO:0045776), negative regulation of cell size (GO:0045792), positive regulation of transcription by RNA polymerase II (GO:0045944), negative regulation of hormone secretion (GO:0046888), response to pain (GO:0048265), response to glucocorticoid (GO:0051384), positive regulation of corticotropin secretion (GO:0051461), regulation of synaptic transmission, glutamatergic (GO:0051966), positive regulation of cardiac muscle contraction (GO:0060452), positive regulation of calcium ion import (GO:0090280), positive regulation of cAMP/PKA signal transduction (GO:0141163), negative regulation of feeding behavior (GO:2000252), positive regulation of behavioral fear response (GO:2000987), learning or memory (GO:0007611), feeding behavior (GO:0007631), positive regulation of gene expression (GO:0010628), negative regulation of apoptotic process (GO:0043066)

GO Molecular Function (7): neuropeptide hormone activity (GO:0005184), histone deacetylase inhibitor activity (GO:0046811), corticotropin-releasing hormone receptor 1 binding (GO:0051430), corticotropin-releasing hormone receptor 2 binding (GO:0051431), G protein-coupled receptor binding (GO:0001664), hormone activity (GO:0005179), protein binding (GO:0005515)

GO Cellular Component (7): extracellular region (GO:0005576), dendrite (GO:0030425), varicosity (GO:0043196), perikaryon (GO:0043204), axon terminus (GO:0043679), axon (GO:0030424), neuronal cell body (GO:0043025)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
GPCR ligand binding	1
Peptide hormone metabolism	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
corticotropin-releasing hormone receptor binding	2
neuron projection	2
response to external stimulus	1
neuromuscular process	1
response to stress	1
G protein-coupled receptor activity	1
signal transduction	1
G protein-coupled receptor signaling pathway	1
multi-organism reproductive process	1
multi-multicellular organism process	1
sensory perception of mechanical stimulus	1
learning	1
cellular respiration	1
gene expression	1
regulation of gene expression	1
negative regulation of macromolecule biosynthetic process	1
response to mechanical stimulus	1
regulation of cell growth	1
cell growth	1
positive regulation of growth	1
positive regulation of cellular process	1
neuron development	1
plasma membrane bounded cell projection organization	1
negative regulation of response to food	1
regulation of appetite	1
response to lipid	1
response to oxygen-containing compound	1
positive regulation of cytokine production	1
interleukin-6 production	1
regulation of interleukin-6 production	1
positive regulation of biosynthetic process	1
positive regulation of collagen metabolic process	1
collagen biosynthetic process	1
regulation of collagen biosynthetic process	1
behavior	1
biological process involved in intraspecies interaction between organisms	1
blood vessel diameter maintenance	1
feeding behavior	1
regulation of vascular permeability	1

Protein interactions and networks

STRING

956 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
UCN	CRHR1	P34998	999
UCN	CRHR2	Q13324	999
UCN	CRH	P06850	990
UCN	UCN2	Q96RP3	971
UCN	CRHBP	P24387	967
UCN	UCN3	Q969E3	957
UCN	POMC	P01189	824
UCN	UTS2	O95399	800
UCN	MT-ND6	P03923	749
UCN	MT-CO1	P00395	717
UCN	MT-ND4L	P03901	715
UCN	MT-ND4	P03905	713
UCN	MT-CYB	P00156	708
UCN	MT-ND5	P03915	703
UCN	MT-ATP8	P03928	697

IntAct

4 interactions, top by confidence:

A	B	Type	Score
CRH	CRHR1	psi-mi:“MI:0407”(direct interaction)	0.680
CRH	UCN	psi-mi:“MI:0915”(physical association)	0.540
CRHR2	UCN	psi-mi:“MI:0407”(direct interaction)	0.440

BioGRID (7): UCN (Reconstituted Complex), UCN (Reconstituted Complex), UCN (Reconstituted Complex), UCN (Affinity Capture-RNA), Crhr1 (Reconstituted Complex), Crhr2 (Reconstituted Complex), CRHR1 (Reconstituted Complex)

ESM2 similar proteins: D5J9S0, O00230, O46540, O46688, O77801, O97937, P01160, P01161, P01168, P01169, P01170, P01171, P05125, P07499, P07500, P07501, P09876, P16859, P16860, P24259, P26917, P27104, P27596, P33094, P41547, P49670, P55089, P56469, P60041, P60042, P61278, P61279, P68248, P83228, P83859, P83860, P87384, P87385, Q2XXL8, Q62949

Diamond homologs: O93448, P01142, P01143, P01144, P01145, P01146, P06296, P06850, P13241, P21624, P25308, P49188, P49926, P55089, P55090, P81615, Q8CIT0, Q95MI6, Q9PTQ4, Q9PTS1

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
AR	“down-regulates quantity by repression”	UCN	“transcriptional regulation”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	25
Likely benign	1
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

91 predictions. Top by Δscore:

Variant	Effect	Δscore
2:27308158:A:AC	donor_gain	0.9900
2:27308159:C:CC	donor_gain	0.9900
2:27308159:CA:C	donor_gain	0.9800
2:27308159:CAGG:C	donor_gain	0.9800
2:27308105:G:C	donor_gain	0.9700
2:27308116:T:TA	donor_gain	0.9700
2:27308159:CAG:C	donor_gain	0.9700
2:27308152:CCACT:C	donor_loss	0.9600
2:27308153:CACTC:C	donor_loss	0.9600
2:27308154:ACTC:A	donor_loss	0.9600
2:27308155:CT:C	donor_loss	0.9600
2:27308156:TCACA:T	donor_loss	0.9600
2:27308157:CACA:C	donor_loss	0.9600
2:27308158:AC:A	donor_loss	0.9600
2:27308151:GCCAC:G	donor_loss	0.9500
2:27308159:CAGGT:C	donor_gain	0.9400
2:27307606:C:CT	acceptor_gain	0.9000
2:27308078:C:CA	donor_gain	0.8700
2:27308083:C:A	donor_gain	0.8100
2:27307904:CGGCC:C	acceptor_gain	0.7700
2:27307907:CC:C	acceptor_gain	0.7700
2:27307908:CC:C	acceptor_gain	0.7700
2:27307905:GGCCC:G	acceptor_loss	0.7600
2:27307906:GCCC:G	acceptor_loss	0.7600
2:27307907:CCCTG:C	acceptor_loss	0.7600
2:27307908:CCTGG:C	acceptor_loss	0.7600
2:27307909:C:CA	acceptor_loss	0.7600
2:27307910:T:G	acceptor_loss	0.7600
2:27308082:C:CA	donor_gain	0.7600
2:27307909:C:CC	acceptor_gain	0.7200

AlphaMissense

767 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:27307617:A:C	F93L	0.993
2:27307617:A:T	F93L	0.993
2:27307619:A:G	F93L	0.993
2:27307618:A:G	F93S	0.971
2:27307618:A:C	F93C	0.967
2:27307612:A:G	L95P	0.960
2:27307549:C:G	R116P	0.958
2:27307562:C:G	A112P	0.954
2:27307633:G:A	S88F	0.953
2:27307551:G:C	N115K	0.952
2:27307551:G:T	N115K	0.952
2:27307624:A:G	L91P	0.950
2:27307606:C:G	R97P	0.944
2:27307621:G:A	T92I	0.942
2:27307627:T:A	D90V	0.942
2:27307524:C:A	K124N	0.941
2:27307524:C:G	K124N	0.941
2:27307528:C:A	G123V	0.940
2:27307543:A:T	I118K	0.939
2:27307627:T:C	D90G	0.935
2:27307619:A:T	F93I	0.934
2:27307633:G:T	S88Y	0.929
2:27307585:C:G	R104P	0.927
2:27307589:C:G	A103P	0.924
2:27307552:T:A	N115I	0.923
2:27307626:G:C	D90E	0.923
2:27307626:G:T	D90E	0.923
2:27307528:C:T	G123D	0.921
2:27307627:T:G	D90A	0.921
2:27307616:G:C	H94D	0.919

dbSNP variants (sampled 300 via entrez): RS1000959095 (2:27308669 C>G), RS1003517916 (2:27310216 C>T), RS1004492813 (2:27307763 G>A), RS1006101818 (2:27308333 G>A), RS1006532273 (2:27309497 G>A), RS1006567253 (2:27308601 G>A), RS1006595462 (2:27308972 C>T), RS1007547110 (2:27308321 C>G), RS1007609147 (2:27308011 A>C,G), RS1008601800 (2:27306950 C>T), RS1008965708 (2:27307137 G>A,T), RS1010048759 (2:27309311 G>C), RS1010069502 (2:27308369 G>A,T), RS1010655530 (2:27307177 G>A,C), RS1011125110 (2:27306975 G>A,T)

Disease associations

OMIM: gene MIM:600945 | 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
GCST001729_5	Crohn’s disease	5.000000e-16

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

23 total (human), top 23 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Air Pollutants	increases abundance, increases expression, affects methylation	2
Diethylhexyl Phthalate	decreases expression, affects cotreatment, increases expression	2
Particulate Matter	affects methylation, increases abundance, increases expression	2
aristolochic acid I	increases expression	1
Asian ginseng	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
abrine	increases expression	1
2-methyl-2H-pyrazole-3-carboxylic acid (2-methyl-4-o-tolylazophenyl)amide	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Sunitinib	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Cadmium	increases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Nitrogen Dioxide	increases abundance, affects methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Quercetin	increases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression	1
Cyclosporine	increases expression	1
Cadmium Chloride	decreases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	increases expression	1

Clinical trials (associated diseases)

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