OXT

protein-coding

oxytocin/neurophysin I prepropeptide, the group of Neuropeptides

Gene summary

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. [provided by RefSeq, Dec 2013]

Previous symbols:

MANE transcript

NM_000915.4

Inheritance

—

ClinVar variants

U:10

Top phenotype

Neurodevelopmental disorder

gnomAD constraint

pLI —, LoF o/e 0

Max pathogenic AF

—

Genomic locus

chr20:3,071,620-3,072,517

External References & Databases

Ensembl (ENSG00000101405)

Transcript & Mutation Effects

hg38 • Region Span ~0.9 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to OXT variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 10

not providedTotal: 1

Neurodevelopmental disorderTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_000915.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			10 clinvar			10
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	10	0	0	10

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 4 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_000915.4	RefSeq	NP_000906.1	3	MANE Select
ENST00000217386.2	Ensembl	ENSP00000217386.2	3	MANE Select
ENST00001100538.1	Ensembl	ENSP00000770344.1	2	Standard
ENST00001134090.1	Ensembl	ENSP00000801595.1	3	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
oxt	Danio rerio	Structure: vH ionocyte Quality: decreased amount abnormal

Gene / Model

Organism

Observed Phenotype

oxt

Danio rerio

Structure: vH ionocyte

Quality: decreased amount

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Oxytocin signaling pathway - Homo sapiens (human)
Myometrial Relaxation and Contraction Pathways
Signaling by GPCR
Signal Transduction
GPCR signaling-G alpha q

Biological Process

response to amphetamine
regulation of heart rate
maternal aggressive behavior
signal transduction
G protein-coupled receptor signaling pathway

Molecular Function

neurohypophyseal hormone activity
oxytocin receptor binding

Cellular Component

extracellular region
extracellular space
secretory granule
terminal bouton

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000217386
Coding exons: 3
Length: 898
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.787	54	72.9	0.741	0.00000359	775
Missense (PolyPhen)		15	28.888	0.51925		334
Synonymous	1.28	24	33.4	0.719	0.00000180	250
Loss of Function	1.88	0	4.10	0.00	1.74e-7	52

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Neurophysin 1 specifically binds oxytocin.;

Recessive Scores

pRec: 0.345

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.724

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Low	Low
Primary Immunodeficiency	Medium	Low	Medium
Cancer	Medium	Low	Medium