OXT

Summary

OXT (oxytocin/neurophysin I prepropeptide, HGNC:8528) is a protein-coding gene on chromosome 20p13, encoding Oxytocin-neurophysin 1 (P01178). Neurophysin 1 specifically binds oxytocin.

This gene encodes a precursor protein that is processed to produce oxytocin and neurophysin I. Oxytocin is a posterior pituitary hormone which is synthesized as an inactive precursor in the hypothalamus along with its carrier protein neurophysin I. Together with neurophysin, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis, where it is either stored or secreted into the bloodstream. The precursor seems to be activated while it is being transported along the axon to the posterior pituitary. This hormone contracts smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions.

Source: NCBI Gene 5020 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 10 total
• Druggable target: yes
• MANE Select transcript: NM_000915

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8528
Approved symbol	OXT
Name	oxytocin/neurophysin I prepropeptide
Location	20p13
Locus type	gene with protein product
Status	Approved
Aliases	OXT-NPI, OT-NPI
Ensembl gene	ENSG00000101405
Ensembl biotype	protein_coding
OMIM	167050
Entrez	5020

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000217386

RefSeq mRNA: 1 — MANE Select: NM_000915 NM_000915

CCDS: CCDS13044

Canonical transcript exons

ENST00000217386 — 3 exons

Exon	Start	End
ENSE00000656643	3072077	3072278
ENSE00000858715	3071620	3071775
ENSE00001044025	3072363	3072517

Expression profiles

Bgee: expression breadth ubiquitous, 150 present calls, max score 88.48.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.2709 / max 184.0964, expressed in 71 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
183199	0.2086	50
183200	0.0623	23

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	88.48	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.94	gold quality
hypothalamus	UBERON:0001898	83.88	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.82	gold quality
right lobe of liver	UBERON:0001114	79.93	gold quality
secondary oocyte	CL:0000655	73.48	gold quality
liver	UBERON:0002107	72.09	gold quality
decidua	UBERON:0002450	71.53	silver quality
diaphragm	UBERON:0001103	71.00	gold quality
jejunal mucosa	UBERON:0000399	70.20	gold quality
adenohypophysis	UBERON:0002196	70.00	gold quality
cartilage tissue	UBERON:0002418	69.71	gold quality
triceps brachii	UBERON:0001509	68.78	gold quality
gluteal muscle	UBERON:0002000	68.65	gold quality
subcutaneous adipose tissue	UBERON:0002190	66.52	gold quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	65.89	gold quality
inferior olivary complex	UBERON:0002127	64.99	gold quality
pituitary gland	UBERON:0000007	64.97	gold quality
gingival epithelium	UBERON:0001949	64.60	gold quality
gingiva	UBERON:0001828	63.94	gold quality
right adrenal gland	UBERON:0001233	62.55	gold quality
adipose tissue	UBERON:0001013	61.94	gold quality
left adrenal gland	UBERON:0001234	61.89	gold quality
adult mammalian kidney	UBERON:0000082	61.86	gold quality
connective tissue	UBERON:0002384	61.55	gold quality
blood vessel layer	UBERON:0004797	60.59	gold quality
left adrenal gland cortex	UBERON:0035825	60.53	gold quality
olfactory bulb	UBERON:0002264	60.45	gold quality
type B pancreatic cell	CL:0000169	60.25	gold quality
right adrenal gland cortex	UBERON:0035827	60.04	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.39

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPB, CREB3L1, ESR1, ESR2, ESRRA, NCOA1, NCOA2, NCOA3, NR0B1, NR2C2, NR2F1, NR2F2, NR2F6, NR3C1, NR5A1, NR6A1, PAX1, POU3F1, POU3F2, POU3F3, POU3F4, RARA, RARB, RORA, RXRA, SIM1, THRA

Literature-anchored findings (GeneRIF, showing 40)

• oxytocin decreases IL-6 production and may affect bone metabolism in humans (PMID:12126740)
• Plasma oxytocin levels were not reliably altered by positive or negative emotion induction. (PMID:12475731)
• oxytocin has a role in the physiological processes of LH regulation. (PMID:12832367)
• New function of estrogens in the male: regulation of OT responsiveness in epididymis. (PMID:12834028)
• Paracrine oxytocin production stimulated by estrogen may be important in activating the uterus at term. (PMID:12843193)
• The inhibitory effect of oxytocin is mediated by activation of the cAMP-protein kinase A pathway, a nonconventional oxytocin signalling pathway, whereas the mitogenic effect is coupled to the increase of intracellular [Ca(2+)] and tyrosine phosphorylation (PMID:15089975)
• OT and OT-receptor mRNAs are expressed throughout the GI tract (PMID:15093695)
• Data show that oxytocin is expressed in the myenteric and submucous ganglia and nerve fibres along the entire human GI tract. (PMID:16678285)
• These data indicate that oxytocin contributes to cell motility and growth in human dermal microvascular endothelial cells and tumor-associated endothelial cells purified from human breast carcinomas. (PMID:16778082)
• Data suggest that oxytocin improves the ability to infer the mental state of others from social cues of the eye region. Oxytocin might play a role in autism spectrum disorder, characterized by severe social impairment. (PMID:17137561)
• increase in OXT mRNA in melancholically depressed patients could be related to specific symptoms of depression (PMID:17252002)
• Changes in prostatic concentrations of oxytocin (OT) that occur with aging and malignant disease may act to facilitate cell proliferation. Localization of oxytocin receptor within the plasma membrane modulates OT’s proliferative response in the prostate. (PMID:17492653)
• Implications for understanding and researching the role of oxytocin in women’s attachment, affiliation and aggression are discussed–REVIEW (PMID:17931766)
• Both 5-alpha-reductase I and II are expressed in normal human prostate stromal and epithelial cells. Only 5-alpha-reductase isoenzymes of prostate epithelium are modulated by oxytocin. (PMID:18008328)
• Opposite effects of OXT on proliferation of osteosarcoma cell lines are reported. (PMID:18384894)
• Results show that oxytocin modulates the NPY response to ghrelin, whereas it is unable to produce direct inhibitions of basal circulating NPY levels. (PMID:18461271)
• No OXT coding variants are found, but two novel low-frequency single nucleotide polymorphisms are discovered in the 5’ flanking regions in African populations, one of which lies in the most highly conserved segment outside the exons. (PMID:18566739)
• reduced oxytocinergic function may be one of multiple biological factors contributing to the greater sensitivity to experimental ischemic pain, and to the greater burden of some types of clinical pain experienced by African Americans compared with Whites. (PMID:18568974)
• During conditions of extreme physical stress such as prolonged endurance running, oxytocin may assist its better known companion hormones (arginine vasopressin and atrial natriuretic peptide) in the regulation of fluid balance. (PMID:18794210)
• The fact that oxytocin decreases both superoxide production and release of a proinflammatory cytokine from these cells suggests a potentially larger role for oxytocin in the attenuation of disease. (PMID:18940936)
• Melatonin synergizes with oxytocin to promote myometrial cell contractions in vitro, which in vivo would promote coordinated and forceful contractions of the late term pregnant uterus necessary for parturition. (PMID:19001515)
• Depressed women had more variability in pulsatile oxytocin release during 2 test tasks, & higher oxytocin levels during the 1-hour affiliation-focused imagery session which were also associated with more depression, anxiety, & interpersonal dysfunction. (PMID:19005082)
• oxytocin deserves to be examined as a candidate that causes the sexually dimorphic aspect of human social reciprocity, social brain development and the pathogenesis of autism spectrum disorder (PMID:19335381)
• Oxytocin, its receptor and the PGF(2alpha) receptor are involved in the regulation of labour through a paracrine mechanism. (PMID:19347709)
• No mutations were found in promoter and coding regions of the OT gene in our population. One rare 3’UTR single nucleotide variant (rs17339677) and one intron 2 molecular variant (rs34097556), which showed a high frequency, were evidenced. (PMID:19473710)
• In summary, the intimate associations between the TH-IR and oxytocin-IR elements may be functional synapses and may represent the morphological substrate of stress-influenced oxytocin release. (PMID:19481007)
• Results indicate that arginine vasopressin and oxytocin gene expression in the paraventricular and supraoptic nuclei is unchanged in depressed Alzheimer’s disease patients, in contrast with the enhanced AVP gene expression in major depressive disorder. (PMID:19500216)
• i.v. administration of OXT decreases circulating levels of ghrelin during fasting, as well as following LPS-induced endotoxemia in healthy men (PMID:19587265)
• Gene expression of vasopressin and oxytocin was significant increased in the hypothalamo-neurohypophysial system of patients with chronic heart failure. (PMID:19672816)
• polymorphism in the promoter region of the OXT gene is most common in subjects with lactase non-persistence. (PMID:19943975)
• These data confirm and extend prior evidence implicating oxytocin and vasopressin in couples’ positive and negative communication behaviors, and also provide further evidence of their role in an important health outcome, wound healing. (PMID:20144509)
• The rs2740204 variant in the OXT gene was significantly associated with treatment response (after 1000 permutations p=0.042) and nominally associated with negative symptoms in the sample of this study. (PMID:20196918)
• Hyperphagic obesity in single-minded homolog 1 (Sim1)-deficient mice may be attributable to transgenic changes in the leptin-melanocortin-oxytocin pathway. (PMID:20220015)
• Oxytocin plays an important role in multiple social behaviors, demonstrated in a model comprising oxytocinergic signaling in the amygdala that results in impaired emotional salience processing with consequent social cognitive deficits. (PMID:20308198)
• First demonstration that intranasal oxytocin can facilitate amygdala-dependent, socially reinforced learning and emotional empathy in men. (PMID:20371820)
• Prolactin was related to father-infant coordinated exploratory play whereas oxytocin was associated with father-infant affect synchrony in the social context. (PMID:20399783)
• No association between oxytocin or prolactin gene variants and childhood-onset mood disorders. (PMID:20547007)
• The findings of this study suggested a nominal association of schizophrenia with two variants in the 5’ region of the oxytocin gene (rs4813625 and rs3761248). (PMID:20547038)
• This review discusses the function of oxytocin (OT) as a homeostatic inhibitor of consumption, capable of mitigating multiple aspects of ingestive behavior and energy metabolism. (PMID:20595062)
• Significantly different oxytocin baseline concentrations and oxytocin receptor expressions between fertile and infertile men strongly suggest that oxytocin/oxytocin receptor system is likely to be linked with male infertility (PMID:20711752)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	oxt	ENSDARG00000042845
danio_rerio	avp	ENSDARG00000058567
mus_musculus	Oxt	ENSMUSG00000027301
rattus_norvegicus	Oxt	ENSRNOG00000021225

Paralogs (1): AVP (ENSG00000101200)

Protein

Protein identifiers

Oxytocin-neurophysin 1 — P01178 (reviewed: P01178)

All UniProt accessions (2): P01178, X5D7M6

UniProt curated annotations — full annotation on UniProt →

Function. Neurophysin 1 specifically binds oxytocin. Oxytocin causes contraction of the smooth muscle of the uterus and of the mammary gland. Acts by binding to oxytocin receptor (OXTR).

Subunit / interactions. Interacts with oxytocin receptor (Ki=1.5 nM). Interacts with vasopressin V1aR/AVPR1A (Ki=37 nM), V1bR/AVPR1B (Ki=222 nM) and V2R/AVPR2 receptors (Ki=823 nM).

Subcellular location. Secreted.

Similarity. Belongs to the vasopressin/oxytocin family.

RefSeq proteins (1): NP_000906* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000981	Neurhyp_horm	Family
IPR022423	Neurohypophysial_hormone_CS	Conserved_site
IPR036387	Neurhyp_horm_dom_sf	Homologous_superfamily

Pfam: PF00184, PF00220

UniProt features (18 total): disulfide bond 8, sequence conflict 4, signal peptide 1, peptide 1, mutagenesis site 1, strand 1, chain 1, modified residue 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
7RYC	ELECTRON MICROSCOPY	2.9
7QVM	ELECTRON MICROSCOPY	3.25
7OFG	SOLUTION NMR
7OTD	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P01178-F1	83.30	0.58

Antibody-complex structures (SAbDab): 2 — 7QVM, 7RYC

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): 28

Disulfide bonds (8): 98–116, 105–110, 20–25, 41–85, 44–58, 52–75, 59–65, 92–104

Mutagenesis-validated functional residues (1):

Position	Phenotype
28	gain of antagonist activity on v1ar/avpr1a (and loss of agonist activity on this receptor). 310-fold decrease in affinit

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-388479	Vasopressin-like receptors
R-HSA-416476	G alpha (q) signalling events
R-HSA-162582	Signal Transduction
R-HSA-372790	Signaling by GPCR
R-HSA-373076	Class A/1 (Rhodopsin-like receptors)
R-HSA-375276	Peptide ligand-binding receptors
R-HSA-388396	GPCR downstream signalling
R-HSA-500792	GPCR ligand binding

MSigDB gene sets: 247 (showing top): GSE45365_NK_CELL_VS_CD11B_DC_UP, GOBP_MEMORY, GOBP_DIGESTION, GOBP_RESPONSE_TO_NITROGEN_COMPOUND, GOBP_POSITIVE_REGULATION_OF_REPRODUCTIVE_PROCESS, GOBP_REGULATION_OF_ICOSANOID_SECRETION, GOBP_COGNITION, GOBP_BEHAVIOR, GOBP_REGULATION_OF_BLOOD_PRESSURE, GOBP_RESPONSE_TO_ELECTRICAL_STIMULUS, GOBP_RESPONSE_TO_ESTRADIOL, GOBP_CIRCULATORY_SYSTEM_PROCESS, GOBP_RESPONSE_TO_COCAINE, GOBP_REGULATION_OF_PROSTAGLANDIN_SECRETION, GOBP_RESPONSE_TO_AMINE

GO Biological Process (44): response to amphetamine (GO:0001975), regulation of heart rate (GO:0002027), maternal aggressive behavior (GO:0002125), signal transduction (GO:0007165), positive regulation of cytosolic calcium ion concentration (GO:0007204), heart development (GO:0007507), female pregnancy (GO:0007565), memory (GO:0007613), grooming behavior (GO:0007625), response to sucrose (GO:0009744), positive regulation of norepinephrine secretion (GO:0010701), response to activity (GO:0014823), response to food (GO:0032094), positive regulation of prostaglandin secretion (GO:0032308), response to estradiol (GO:0032355), response to retinoic acid (GO:0032526), response to progesterone (GO:0032570), response to genistein (GO:0033595), response to prostaglandin E (GO:0034695), social behavior (GO:0035176), intracellular signal transduction (GO:0035556), negative regulation of urine volume (GO:0035811), response to cocaine (GO:0042220), maternal behavior (GO:0042711), sperm ejaculation (GO:0042713), eating behavior (GO:0042755), drinking behavior (GO:0042756), response to peptide hormone (GO:0043434), response to ether (GO:0045472), negative regulation of blood pressure (GO:0045776), positive regulation of blood pressure (GO:0045777), positive regulation of ossification (GO:0045778), positive regulation of female receptivity (GO:0045925), positive regulation of synaptic transmission (GO:0050806), response to glucocorticoid (GO:0051384), response to cAMP (GO:0051591), response to electrical stimulus (GO:0051602), positive regulation of synapse assembly (GO:0051965), male mating behavior (GO:0060179), positive regulation of penile erection (GO:0060406)

GO Molecular Function (5): neuropeptide hormone activity (GO:0005184), neurohypophyseal hormone activity (GO:0005185), oxytocin receptor binding (GO:0031855), hormone activity (GO:0005179), protein binding (GO:0005515)

GO Cellular Component (6): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), secretory granule (GO:0030141), terminal bouton (GO:0043195), neuronal dense core vesicle (GO:0098992), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Signaling by GPCR	2
Peptide ligand-binding receptors	1
GPCR downstream signalling	1
Signal Transduction	1
GPCR ligand binding	1
Class A/1 (Rhodopsin-like receptors)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of biological quality	2
behavior	2
response to lipid	2
response to oxygen-containing compound	2
response to ketone	2
cellular anatomical structure	2
response to amine	1
regulation of heart contraction	1
aggressive behavior	1
cell communication	1
cellular process	1
signaling	1
regulation of cellular process	1
cellular response to stimulus	1
animal organ development	1
circulatory system development	1
multi-organism reproductive process	1
multi-multicellular organism process	1
learning or memory	1
response to disaccharide	1
regulation of norepinephrine secretion	1
positive regulation of catecholamine secretion	1
norepinephrine secretion	1
response to stimulus	1
response to nutrient levels	1
response to chemical	1
positive regulation of icosanoid secretion	1
regulation of prostaglandin secretion	1
prostaglandin secretion	1
positive regulation of secretion by cell	1
response to steroid hormone	1
response to hydroxyisoflavone	1
response to prostaglandin	1
response to alcohol	1
biological process involved in intraspecies interaction between organisms	1
hormone activity	1
neuropeptide activity	1
neuropeptide hormone activity	1
G protein-coupled receptor binding	1
receptor ligand activity	1

Protein interactions and networks

STRING

2006 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
OXT	OXTR	P30559	999
OXT	AVPR1A	P37288	987
OXT	POMC	P01189	932
OXT	CRH	P06850	918
OXT	AVP	P01185	900
OXT	PRL	P01236	900
OXT	NTS	P30990	868
OXT	LNPEP	Q9UIQ6	865
OXT	GAL	P22466	853
OXT	NPY	P01303	850
OXT	GNRH1	P01148	845
OXT	AVPR1B	P47901	797
OXT	PDYN	P01213	796
OXT	TRH	P20396	795
OXT	SIM1	P81133	788

IntAct

7 interactions, top by confidence:

A	B	Type	Score
OXT	DCDC2	psi-mi:“MI:0915”(physical association)	0.560
NCK1	OXT	psi-mi:“MI:0915”(physical association)	0.400
OXT	SHC1	psi-mi:“MI:0914”(association)	0.350

BioGRID (20): SHC1 (Affinity Capture-MS), VHL (Affinity Capture-MS), CUL2 (Affinity Capture-MS), NIF3L1 (Affinity Capture-MS), NFS1 (Affinity Capture-MS), OXT (Biochemical Activity), OXT (Biochemical Activity), OXT (Negative Genetic), OXT (Negative Genetic), OXT (Negative Genetic), OXT (Negative Genetic), OXT (Negative Genetic), OXT (Negative Genetic), OXT (Negative Genetic), TSPO (Negative Genetic)

ESM2 similar proteins: A6NCL2, D3ZTT2, O19131, O46655, O70280, P01177, P01178, P01179, P01180, P01183, P01185, P01186, P03973, P13389, P19438, P22298, P22934, P25118, P35454, P35455, P50555, P58658, P58659, Q02509, Q14AE4, Q32LD3, Q3URS3, Q5T700, Q68US5, Q6UWE3, Q6UWL2, Q6V9X0, Q6WN34, Q76LW6, Q86Y78, Q8BPP5, Q8BVP6, Q8N6Q3, Q8VEA6, Q8WXA2

Diamond homologs: A0A291NVT7, A0A4Y5X186, A0A4Y5X1A7, O42493, O42499, P01175, P01176, P01177, P01178, P01179, P01180, P01181, P01182, P01183, P01184, P01185, P01186, P05486, P08162, P08163, P0DN42, P0DN43, P0DTJ2, P0DTJ3, P10769, P13389, P15210, P15211, P16041, P16042, P16229, P17668, P21916, P24787, P32005, P35454, P35455, P58990, P81768, Q00945

SIGNOR signaling

11 interactions.

A	Effect	B	Mechanism
ESR1	“up-regulates quantity by expression”	OXT	“transcriptional regulation”
ESR2	“up-regulates quantity by expression”	OXT	“transcriptional regulation”
RARA	“up-regulates quantity by expression”	OXT	“transcriptional regulation”
RARB	“up-regulates quantity by expression”	OXT	“transcriptional regulation”
THRA	“up-regulates quantity by expression”	OXT	“transcriptional regulation”
CREB3L1	“up-regulates quantity by expression”	OXT	“transcriptional regulation”
CAPRIN2	“up-regulates quantity by stabilization”	OXT	“post transcriptional regulation”
PCSK5	“down-regulates quantity”	OXT	cleavage
PCSK2	“down-regulates quantity”	OXT	cleavage
CD38	“up-regulates quantity”	OXT	relocalization
TAC1	“up-regulates quantity”	OXT

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	10
Likely benign	0
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

129 predictions. Top by Δscore:

Variant	Effect	Δscore
20:3071774:AGG:A	donor_loss	1.0000
20:3071777:T:A	donor_loss	1.0000
20:3071771:GCAAG:G	donor_gain	0.9900
20:3071776:G:GG	donor_gain	0.9900
20:3072357:CTCCA:C	acceptor_loss	0.9900
20:3072358:TCCA:T	acceptor_loss	0.9900
20:3072359:CCA:C	acceptor_loss	0.9900
20:3072360:CAG:C	acceptor_loss	0.9900
20:3072361:A:AG	acceptor_gain	0.9900
20:3072361:A:AT	acceptor_loss	0.9900
20:3072361:AGAC:A	acceptor_gain	0.9900
20:3072362:G:GG	acceptor_gain	0.9900
20:3072362:GAC:G	acceptor_gain	0.9900
20:3072362:GACG:G	acceptor_gain	0.9900
20:3071774:AG:A	donor_gain	0.9800
20:3071775:GG:G	donor_gain	0.9800
20:3072075:A:AG	acceptor_gain	0.9800
20:3072076:G:GG	acceptor_gain	0.9800
20:3072277:GG:G	donor_gain	0.9800
20:3072278:GG:G	donor_gain	0.9800
20:3072361:AGACG:A	acceptor_gain	0.9800
20:3072362:GACGG:G	acceptor_gain	0.9800
20:3072276:CGGGT:C	donor_loss	0.9700
20:3072277:GGGT:G	donor_loss	0.9700
20:3072278:GGT:G	donor_loss	0.9700
20:3072279:G:A	donor_loss	0.9700
20:3072279:G:GG	donor_gain	0.9700
20:3072280:T:TC	donor_loss	0.9700
20:3072281:GA:G	donor_loss	0.9700
20:3072362:GA:G	acceptor_gain	0.9700

AlphaMissense

801 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:3072110:T:A	C52S	0.995
20:3072111:G:C	C52S	0.995
20:3072179:T:A	C75S	0.993
20:3072180:G:C	C75S	0.993
20:3072114:T:G	F53C	0.991
20:3072128:T:A	C58S	0.990
20:3072129:G:C	C58S	0.990
20:3072110:T:C	C52R	0.988
20:3071745:G:C	K30N	0.987
20:3071745:G:T	K30N	0.987
20:3072130:C:G	C58W	0.986
20:3072131:T:A	C59S	0.986
20:3072132:G:C	C59S	0.986
20:3072149:T:A	C65S	0.985
20:3072150:G:C	C65S	0.985
20:3072112:C:G	C52W	0.984
20:3072179:T:C	C75R	0.984
20:3072128:T:C	C58R	0.983
20:3072149:T:C	C65R	0.983
20:3072113:T:C	F53L	0.982
20:3072115:C:A	F53L	0.982
20:3072115:C:G	F53L	0.982
20:3072086:T:A	C44S	0.981
20:3072087:G:A	C44Y	0.981
20:3072087:G:C	C44S	0.981
20:3072089:G:T	G45C	0.981
20:3072104:G:T	G50C	0.980
20:3072117:G:A	G54E	0.980
20:3072129:G:A	C58Y	0.980
20:3072180:G:A	C75Y	0.980

dbSNP variants (sampled 300 via entrez): RS1000979810 (20:3071237 G>A), RS1000980529 (20:3070599 G>C), RS1001433579 (20:3071436 C>A), RS1002384262 (20:3072407 T>C), RS1005599284 (20:3071369 T>C), RS1005631296 (20:3070754 C>T), RS1005950974 (20:3072737 C>A,T), RS1007577907 (20:3072054 G>C,T), RS1007941667 (20:3071836 G>A), RS1009203770 (20:3072721 G>A,T), RS1009553782 (20:3070649 G>T), RS1009752100 (20:3070989 C>G), RS1012382253 (20:3070848 G>C), RS1012848232 (20:3071112 A>G), RS1013390478 (20:3072155 G>A,T)

Disease associations

OMIM: gene MIM:167050 | disease phenotypes:

GenCC curated gene-disease

Mondo (1): neurodevelopmental disorder (MONDO:0700092)

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST006585_1186	Blood protein levels	6.000000e-156
GCST009027_1	Serum oxytocin levels	3.000000e-08
GCST012013_21	Cataracts	5.000000e-09
GCST012013_8	Cataracts	5.000000e-30
GCST90006927_1	Toxoplasma gondii sag1 antibody levels	4.000000e-08
GCST90014268_13	Cataracts	2.000000e-32

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0010245	oxytocin measurement
EFO:0009353	Anti-Toxoplasma gondii IgG measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D065886	Neurodevelopmental Disorders	F03.625

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5169107 (SINGLE PROTEIN)

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

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs2740204	OXT		0.00	0

CTD chemical–gene interactions

13 total (human), top 13 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
MT19c compound	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Vehicle Emissions	increases methylation	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Calcium	increases reaction, increases transport	1
Clozapine	affects response to substance	1
Estrogens	increases expression	1
Colforsin	decreases reaction, increases expression	1
Hydrocortisone	affects abundance	1
Plant Extracts	affects cotreatment, decreases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5138698	Binding	Agonist activity at human OTR expressed in COS-1 cells assessed as Ca2+ mobilization by FLIPR assay	On the Utility of Chemical Strategies to Improve Peptide Gut Stability. — J Med Chem

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT04586348	PHASE4	UNKNOWN	Prenatal Iodine Supplementation and Early Childhood Neurodevelopment
NCT04873115	PHASE4	UNKNOWN	Double-blind, Placebo-controlled, Randomized Clinical Trial Comparing the Efficacy and Safety of Sialanar Plus orAl rehabiLitation Against Placebo Plus Oral Rehabilitation for chIldren and Adolescents With seVere Sialorrhoea and Neurodisabilties,
NCT02559102	PHASE3	COMPLETED	Dexmedetomidine Sedation Versus General Anaesthesia for Inguinal Hernia Surgery in Infants
NCT02757079	PHASE3	COMPLETED	Study of the Efficacy and Safety of NPC-15 for Sleep Disorders of Children With Neurodevelopmental Disorders
NCT06915480	PHASE3	RECRUITING	Reducing Missed Appointments
NCT07377032	PHASE3	RECRUITING	TAP-GRIN: Interventional Study on Patients With GRIN-related Neurodevelopmental Disorders
NCT02909959	PHASE2	COMPLETED	Sulforaphane for the Treatment of Young Men With Autism Spectrum Disorder
NCT06081348	PHASE2	RECRUITING	Sertraline vs. Placebo in the Treatment of Anxiety in Children and AdoLescents With NeurodevelopMental Disorders
NCT06352372	PHASE2	COMPLETED	Safety and Efficacy of tPBM for Epileptiform Activity in Autism
NCT00503191	PHASE1	COMPLETED	NeuroModulation Technique Treatment of Autism
NCT04475848	PHASE1	COMPLETED	A Study to Investigate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Food Effect of RO6953958 in Healthy Participants
NCT06300398	PHASE1	COMPLETED	IAMA-6 Oral Dose Study in Healthy Adults
NCT01783041	PHASE2/PHASE3	COMPLETED	Effect of Early L-Carnitine Supplementation on Neurodevelopmental Outcomes in Very Preterm Infants
NCT05767385	PHASE2/PHASE3	RECRUITING	Fetal Cerebrovascular Autoregulation in Congenital Heart Disease and Association With Neonatal Neurobehavior
NCT05675098	EARLY_PHASE1	NOT_YET_RECRUITING	Central Nervous System Stimulants and Physical Function in Children With Cerebral Palsy
NCT00783783	Not specified	COMPLETED	CYP2D6 Pharmacogenetics in Risperidone-Treated Children
NCT01778504	Not specified	RECRUITING	Studying Childhood-onset Behavioral, Psychiatric, and Developmental Disorders
NCT01850784	Not specified	UNKNOWN	High Energy Formula Feeding in Infants With Congenital Heart Disease
NCT01922791	Not specified	COMPLETED	Nutrition and Pregnancy Intervention Study
NCT01942525	Not specified	UNKNOWN	Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants
NCT02003170	Not specified	COMPLETED	Etiology and Early Diagnosis of Neurodevelopmental Disorders
NCT02118649	Not specified	ACTIVE_NOT_RECRUITING	Enhancing Behavior and Brain Response to Visual Targets Using a Computer Game
NCT02557191	Not specified	TERMINATED	Biomarkers, Neurodevelopment and Preterm Infants
NCT02690675	Not specified	COMPLETED	Iron Supplement Effect on Child Development
NCT02694003	Not specified	COMPLETED	Better Nights, Better Days for Children With Neurodevelopment Disorders
NCT02792894	Not specified	COMPLETED	Family Networks (FaNs) for Children With Developmental Disorders and Delays
NCT02871674	Not specified	UNKNOWN	Good Night Project: Behavioural Sleep Interventions for Children With ADHD: A Randomised Controlled Trial
NCT02887157	Not specified	COMPLETED	Analyzing Retinal Microanatomy in ROP
NCT02898298	Not specified	COMPLETED	Positive Emotion Regulation Training in Children, Adolescents and Young Adults With and Without Developmental Disorder
NCT02912780	Not specified	UNKNOWN	Introduction of Microsystems in a Level 3 Neonatal Intensive Care Unit
NCT03023293	Not specified	COMPLETED	n-3 PUFAs, Irisin and Maternal Glucose Metabolism From Pregnancy to Postpartum
NCT03023644	Not specified	COMPLETED	Improving Neurodevelopmental Outcomes in Children With Congenital Heart Disease: An Intervention Study
NCT03032991	Not specified	UNKNOWN	Early Biomarkers of Neurodevelopment in Offspring of Diabetic Mothers
NCT03088189	Not specified	TERMINATED	Effect of Parental Peri-conceptional Vitamin B12 Supplementation on Infant Neurocognitive Development in Offspring
NCT03096028	Not specified	COMPLETED	Developmental Origins of Mental Health Disorders
NCT03148782	Not specified	COMPLETED	Brain Plasticity Underlying Acquisition of New Organizational Skills in Children-R61 Phase
NCT03172104	Not specified	COMPLETED	Neurobehavioural Development of Infants Born <30 Weeks Gestational Age Between Birth and Five Years of Age
NCT03222375	Not specified	RECRUITING	SQUED™ Series 28.1 Home-use and Treatment of Autowave Reverberator of Autism
NCT03229928	Not specified	COMPLETED	Clinical Testing of a Real-Time Behavior Measurement Tool: Measuring Outcomes for CHAnge
NCT03232489	Not specified	UNKNOWN	Study for the Evaluation of the Feasibility of Applying Advanced MRI Scanning in Pediatric Clinical Practice