OXT (oxytocin/neurophysin I prepropeptide) - Rat Genome Database

Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) RatMine GViewer (Genome Viewer) Overgo Probe Designer VCMap
Aging & Age-Related Disease Cancer Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Gene: OXT (oxytocin/neurophysin I prepropeptide) Homo sapiens
Analyze
Symbol: OXT
Name: oxytocin/neurophysin I prepropeptide
RGD ID: 737586
HGNC Page HGNC
Description: Predicted to enable neuropeptide hormone activity and oxytocin receptor binding activity. Predicted to be involved in positive regulation of cold-induced thermogenesis. Predicted to be located in extracellular region. Predicted to be active in extracellular space and secretory granule.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC126890; MGC126892; neurophysin I; OT; OT-NPI; OXT-NPI; oxytocin, prepro- (neurophysin I); oxytocin, prepropeptide; oxytocin-neurophysin 1; oxytocin-neurophysin I, preproprotein
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38203,071,620 - 3,072,517 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl203,071,620 - 3,072,517 (+)EnsemblGRCh38hg38GRCh38
GRCh37203,052,266 - 3,053,163 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36203,000,266 - 3,001,162 (+)NCBINCBI36hg18NCBI36
Build 34203,000,265 - 3,001,162NCBI
Celera203,114,251 - 3,115,147 (+)NCBI
Cytogenetic Map20p13NCBI
HuRef202,998,607 - 2,999,505 (+)NCBIHuRef
CHM1_1203,046,806 - 3,047,704 (+)NCBICHM1_1
T2T-CHM13v2.0203,102,517 - 3,103,415 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
drinking behavior  (IEA,ISO)
eating behavior  (IEA,ISO)
female pregnancy  (IEA,ISO)
grooming behavior  (IEA,ISO)
heart development  (IEA,ISO)
hyperosmotic salinity response  (IEA,ISO)
male mating behavior  (IEA,ISO)
maternal aggressive behavior  (IEA,ISO)
maternal behavior  (IEA,ISO)
memory  (IEA,ISO)
negative regulation of blood pressure  (IEA,ISO)
negative regulation of gastric acid secretion  (IEA,ISO)
negative regulation of urine volume  (IEA,ISO)
positive regulation of blood pressure  (IEA,ISO)
positive regulation of cold-induced thermogenesis  (IEA,ISS)
positive regulation of cytosolic calcium ion concentration  (IEA,ISO)
positive regulation of female receptivity  (IEA,ISO)
positive regulation of hindgut contraction  (IEA,ISO)
positive regulation of norepinephrine secretion  (IEA,ISO)
positive regulation of ossification  (IEA,ISO)
positive regulation of penile erection  (IEA,ISO)
positive regulation of prostaglandin secretion  (IEA,ISO)
positive regulation of renal sodium excretion  (IEA,ISO)
positive regulation of synapse assembly  (IEA,ISO)
positive regulation of synaptic transmission  (IEA,ISO)
positive regulation of uterine smooth muscle contraction  (IEA,ISO)
regulation of digestive system process  (IEA,ISO)
regulation of heart rate  (IEA,ISO)
regulation of sensory perception of pain  (IEA,ISO)
response to activity  (IEA,ISO)
response to amphetamine  (IEA,ISO)
response to cAMP  (IEA,ISO)
response to cocaine  (IEA,ISO)
response to electrical stimulus  (IEA,ISO)
response to estradiol  (IEA,ISO)
response to ether  (IEA,ISO)
response to food  (IEA,ISO)
response to glucocorticoid  (IEA,ISO)
response to organic cyclic compound  (IEA,ISO)
response to peptide hormone  (IEA,ISO)
response to progesterone  (IEA,ISO)
response to prostaglandin E  (IEA,ISO)
response to retinoic acid  (IEA,ISO)
response to steroid hormone  (IEA,ISO)
response to sucrose  (IEA,ISO)
signal transduction  (IEA,TAS)
sleep  (IEA,ISO)
social behavior  (IEA,ISO)
sperm ejaculation  (IEA,ISO)

Cellular Component
cytoplasm  (IEA,ISO)
extracellular region  (IEA,TAS)
extracellular space  (IBA,IEA,ISO)
secretory granule  (IBA,IEA,ISO)
terminal bouton  (IEA,ISO)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Gastric antisecretory and antiulcer activity of oxytocin in rats and guinea pigs. Asad M, etal., Life Sci. 2001 Nov 21;70(1):17-24.
2. Time course of c-fos, vasopressin and oxytocin mRNA expression in the hypothalamus following long-term dehydration. da Silveira LT, etal., Cell Mol Neurobiol. 2007 Aug;27(5):575-84.
3. Oxytocin alleviates hepatic ischemia-reperfusion injury in rats. Dusunceli F, etal., Peptides. 2008 Jul;29(7):1216-22. Epub 2008 Feb 26.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Science review: Vasopressin and the cardiovascular system part 1--receptor physiology. Holmes CL, etal., Crit Care. 2003 Dec;7(6):427-34. Epub 2003 Jun 26.
6. Vasopressin and oxytocin excite distinct neuronal populations in the central amygdala. Huber D, etal., Science. 2005 Apr 8;308(5719):245-8.
7. Oxytocin ameliorates skin damage and oxidant gastric injury in rats with thermal trauma. Iseri SO, etal., Burns. 2008 May;34(3):361-9. Epub 2007 Sep 10.
8. Hypertension and exercise training differentially affect oxytocin and oxytocin receptor expression in the brain. Martins AS, etal., Hypertension. 2005 Oct;46(4):1004-9. Epub 2005 Sep 12.
9. Oxytocin exerts protective effects on in vitro myocardial injury induced by ischemia and reperfusion. Ondrejcakova M, etal., Can J Physiol Pharmacol. 2009 Feb;87(2):137-42.
10. Postnatal oxytocin treatment of spontaneously hypertensive male rats decreases blood pressure and body weight in adulthood. Petersson M and Uvnas-Moberg K, Neurosci Lett. 2008 Aug 1;440(2):166-9. Epub 2008 Jun 16.
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. Effect of oxytocin on acupuncture analgesia in the rat. Yang J, etal., Neuropeptides. 2007 Oct;41(5):285-92. Epub 2007 Jul 30.
Additional References at PubMed
PMID:12173   PMID:1486803   PMID:2249637   PMID:2991279   PMID:3008332   PMID:3768139   PMID:4065330   PMID:6153132   PMID:6574452   PMID:7262323   PMID:9501254   PMID:9665335  
PMID:10218979   PMID:10698266   PMID:10829090   PMID:11140838   PMID:11780052   PMID:12126740   PMID:12183418   PMID:12475731   PMID:12477932   PMID:12712516   PMID:12832367   PMID:12834028  
PMID:12843193   PMID:13591312   PMID:14607844   PMID:15089975   PMID:15093695   PMID:15489334   PMID:16678285   PMID:16754659   PMID:16778082   PMID:17137561   PMID:17252002   PMID:17474147  
PMID:17492653   PMID:17931766   PMID:18008328   PMID:18071238   PMID:18207134   PMID:18384894   PMID:18461271   PMID:18566739   PMID:18568974   PMID:18794210   PMID:18940936   PMID:19001515  
PMID:19005082   PMID:19058789   PMID:19086053   PMID:19335381   PMID:19336370   PMID:19347709   PMID:19473710   PMID:19481007   PMID:19500216   PMID:19587265   PMID:19598235   PMID:19672816  
PMID:19874574   PMID:19943975   PMID:20144509   PMID:20196918   PMID:20220015   PMID:20308198   PMID:20371820   PMID:20399783   PMID:20436377   PMID:20468064   PMID:20547007   PMID:20547038  
PMID:20595062   PMID:20602615   PMID:20711752   PMID:21073007   PMID:21090345   PMID:21315262   PMID:21562482   PMID:21682649   PMID:21741363   PMID:21744319   PMID:21832819   PMID:21873635  
PMID:21893160   PMID:21899794   PMID:21903023   PMID:21960250   PMID:21984889   PMID:22069312   PMID:22227278   PMID:22245314   PMID:22285934   PMID:22294460   PMID:22297159   PMID:22306668  
PMID:22336563   PMID:22418012   PMID:22543270   PMID:22807189   PMID:22872688   PMID:22920910   PMID:22997507   PMID:23025690   PMID:23144787   PMID:23146328   PMID:23258269   PMID:23284856  
PMID:23410756   PMID:23453164   PMID:23550008   PMID:23589638   PMID:23637833   PMID:23799864   PMID:23835346   PMID:23856187   PMID:23937196   PMID:23941164   PMID:24086383   PMID:24412107  
PMID:24635660   PMID:24722188   PMID:24768649   PMID:25088178   PMID:25451977   PMID:26168929   PMID:26615966   PMID:26739971   PMID:26898770   PMID:27028773   PMID:27325757   PMID:27578619  
PMID:27818356   PMID:28077341   PMID:28238786   PMID:28319085   PMID:28415720   PMID:28447621   PMID:28514442   PMID:28566712   PMID:28586943   PMID:28606214   PMID:28694300   PMID:28865715  
PMID:28927333   PMID:28965836   PMID:29040351   PMID:29412506   PMID:29501452   PMID:29609987   PMID:29696435   PMID:29909692   PMID:29969689   PMID:30057594   PMID:30178087   PMID:30201120  
PMID:30392999   PMID:30690225   PMID:31065789   PMID:31361301   PMID:31505221   PMID:31514201   PMID:31525634   PMID:31538678   PMID:31628930   PMID:31768943   PMID:31775875   PMID:31919036  
PMID:32233820   PMID:32296183   PMID:32360414   PMID:32756565   PMID:32807845   PMID:32993882   PMID:33673448   PMID:33961781   PMID:34495462   PMID:34685631   PMID:34713517   PMID:34769215  
PMID:34789725   PMID:34973541  


Genomics

Comparative Map Data
OXT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38203,071,620 - 3,072,517 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl203,071,620 - 3,072,517 (+)EnsemblGRCh38hg38GRCh38
GRCh37203,052,266 - 3,053,163 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36203,000,266 - 3,001,162 (+)NCBINCBI36hg18NCBI36
Build 34203,000,265 - 3,001,162NCBI
Celera203,114,251 - 3,115,147 (+)NCBI
Cytogenetic Map20p13NCBI
HuRef202,998,607 - 2,999,505 (+)NCBIHuRef
CHM1_1203,046,806 - 3,047,704 (+)NCBICHM1_1
T2T-CHM13v2.0203,102,517 - 3,103,415 (+)NCBI
Oxt
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392130,416,432 - 130,418,974 (+)NCBIGRCm39mm39
GRCm39 Ensembl2130,418,093 - 130,418,974 (+)Ensembl
GRCm382130,574,519 - 130,577,054 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2130,576,173 - 130,577,054 (+)EnsemblGRCm38mm10GRCm38
MGSCv372130,401,909 - 130,402,724 (+)NCBIGRCm37mm9NCBIm37
MGSCv362130,267,614 - 130,268,429 (+)NCBImm8
Celera2131,800,597 - 131,801,412 (+)NCBICelera
Cytogenetic Map2F1NCBI
cM Map263.24NCBI
Oxt
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23117,782,650 - 117,783,490 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl3117,782,650 - 117,783,490 (+)Ensembl
Rnor_6.03123,106,694 - 123,107,534 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3123,106,694 - 123,107,534 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03129,604,822 - 129,605,662 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43118,194,219 - 118,195,056 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13118,097,303 - 118,100,512 (+)NCBI
Celera3116,593,509 - 116,594,349 (+)NCBICelera
Cytogenetic Map3q36NCBI
OXT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Mhudiblu_PPA_v0203,157,246 - 3,159,013 (+)NCBIMhudiblu_PPA_v0panPan3
OXT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12418,193,381 - 18,194,232 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2418,193,339 - 18,194,170 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2418,021,790 - 18,022,393 (-)NCBI
ROS_Cfam_1.02418,612,328 - 18,612,968 (-)NCBI
ROS_Cfam_1.0 Ensembl2418,612,281 - 18,613,193 (-)Ensembl
UMICH_Zoey_3.12418,205,647 - 18,206,253 (-)NCBI
UNSW_CanFamBas_1.02418,318,339 - 18,318,942 (-)NCBI
UU_Cfam_GSD_1.02418,646,119 - 18,646,759 (-)NCBI
OXT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1732,605,588 - 32,606,483 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11732,605,586 - 32,606,449 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21736,975,726 - 36,976,589 (-)NCBISscrofa10.2Sscrofa10.2susScr3
OXT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1233,749,520 - 33,750,981 (+)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl233,750,108 - 33,750,968 (+)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607110,763,922 - 10,764,819 (-)NCBIVero_WHO_p1.0
Oxt
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247414,200,478 - 4,201,580 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247414,200,594 - 4,201,416 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
STS-M11186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37203,053,059 - 3,053,189UniSTSGRCh37
Build 36203,001,059 - 3,001,189RGDNCBI36
Celera203,115,044 - 3,115,174RGD
Cytogenetic Map20p13UniSTS
HuRef202,999,401 - 2,999,531UniSTS
GeneMap99-GB4 RH Map2018.42UniSTS
NCBI RH Map2030.9UniSTS
RH64825  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37203,052,998 - 3,053,140UniSTSGRCh37
Build 36203,000,998 - 3,001,140RGDNCBI36
Celera203,114,983 - 3,115,125RGD
Cytogenetic Map20p13UniSTS
HuRef202,999,340 - 2,999,482UniSTS
GeneMap99-GB4 RH Map2011.93UniSTS
NCBI RH Map2061.5UniSTS
UniSTS:483281  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37203,052,268 - 3,053,124UniSTSGRCh37
Celera203,114,253 - 3,115,109UniSTS
HuRef202,998,609 - 2,999,466UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:228
Count of miRNA genes:224
Interacting mature miRNAs:226
Transcripts:ENST00000217386
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High 1 2 83 2
Medium 2 1 180 104 104 58 156 4 18 4 57 1
Low 913 630 1267 374 510 271 2068 455 1536 172 1020 827 104 958 893
Below cutoff 1198 1753 204 93 755 37 1529 1294 1634 127 270 511 57 170 1289 1

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000217386   ⟹   ENSP00000217386
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl203,071,620 - 3,072,517 (+)Ensembl
RefSeq Acc Id: NM_000915   ⟹   NP_000906
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38203,071,620 - 3,072,517 (+)NCBI
GRCh37203,052,266 - 3,053,163 (+)NCBI
Build 36203,000,266 - 3,001,162 (+)NCBI Archive
HuRef202,998,607 - 2,999,505 (+)NCBI
CHM1_1203,046,806 - 3,047,704 (+)NCBI
T2T-CHM13v2.0203,102,517 - 3,103,415 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000906   ⟸   NM_000915
- Peptide Label: preproprotein
- UniProtKB: P01178 (UniProtKB/Swiss-Prot),   X5D7M6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000217386   ⟸   ENST00000217386

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01178-F1-model_v2 AlphaFold P01178 1-125 view protein structure

Promoters
RGD ID:13206205
Promoter ID:EPDNEW_H26683
Type:initiation region
Name:OXT_2
Description:oxytocin/neurophysin I prepropeptide
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26684  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38203,071,358 - 3,071,418EPDNEW
RGD ID:13206207
Promoter ID:EPDNEW_H26684
Type:initiation region
Name:OXT_1
Description:oxytocin/neurophysin I prepropeptide
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H26683  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38203,071,620 - 3,071,680EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3 copy number gain See cases [RCV000051227] Chr20:89939..25697564 [GRCh38]
Chr20:70580..25678200 [GRCh37]
Chr20:18580..25626200 [NCBI36]
Chr20:20p13-11.21		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3 copy number gain See cases [RCV000051041] Chr20:89939..19146279 [GRCh38]
Chr20:70580..19126923 [GRCh37]
Chr20:18580..19074923 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13(chr20:2911664-4017687)x3 copy number gain See cases [RCV000052759] Chr20:2911664..4017687 [GRCh38]
Chr20:2892310..3998334 [GRCh37]
Chr20:2840310..3946334 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3 copy number gain See cases [RCV000052995] Chr20:89939..19071495 [GRCh38]
Chr20:70580..19052139 [GRCh37]
Chr20:18580..19000139 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13-11.22(chr20:89939-21787252)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052996]|See cases [RCV000052996] Chr20:89939..21787252 [GRCh38]
Chr20:70580..21767890 [GRCh37]
Chr20:18580..21715890 [NCBI36]
Chr20:20p13-11.22		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:89939-14818511)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052997]|See cases [RCV000052997] Chr20:89939..14818511 [GRCh38]
Chr20:70580..14799157 [GRCh37]
Chr20:18580..14747157 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh38/hg38 20p13(chr20:3059231-4187716)x3 copy number gain See cases [RCV000052998] Chr20:3059231..4187716 [GRCh38]
Chr20:3039877..4168363 [GRCh37]
Chr20:2987877..4116363 [NCBI36]
Chr20:20p13		 pathogenic
GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3 copy number gain See cases [RCV000133996] Chr20:80106..30227427 [GRCh38]
Chr20:60747..29462103 [GRCh37]
Chr20:8747..28075764 [NCBI36]
Chr20:20p13-q11.1		 pathogenic
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 copy number gain See cases [RCV000135859] Chr20:99557..64277321 [GRCh38]
Chr20:80198..62908674 [GRCh37]
Chr20:28198..62379118 [NCBI36]
Chr20:20p13-q13.33		 pathogenic
GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3 copy number gain See cases [RCV000138677] Chr20:80106..13029401 [GRCh38]
Chr20:60747..13010049 [GRCh37]
Chr20:8747..12958049 [NCBI36]
Chr20:20p13-12.1		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3 copy number gain See cases [RCV000139597] Chr20:80093..6386012 [GRCh38]
Chr20:60734..6366659 [GRCh37]
Chr20:8734..6314659 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3 copy number gain See cases [RCV000141348] Chr20:84402..6159078 [GRCh38]
Chr20:65043..6139725 [GRCh37]
Chr20:13043..6087725 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 copy number gain See cases [RCV000142017] Chr20:80927..26324843 [GRCh38]
Chr20:61568..26305479 [GRCh37]
Chr20:9568..26253479 [NCBI36]
Chr20:20p13-11.1		 pathogenic
GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3 copy number gain See cases [RCV000142285] Chr20:80927..5447679 [GRCh38]
Chr20:61568..5428325 [GRCh37]
Chr20:9568..5376325 [NCBI36]
Chr20:20p13-12.3		 uncertain significance
GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3 copy number gain See cases [RCV000142917] Chr20:1269303..8626911 [GRCh38]
Chr20:1249947..8607558 [GRCh37]
Chr20:1197947..8555558 [NCBI36]
Chr20:20p13-12.3		 pathogenic
GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3 copy number gain See cases [RCV000143426] Chr20:80928..18688031 [GRCh38]
Chr20:61569..18668675 [GRCh37]
Chr20:9569..18616675 [NCBI36]
Chr20:20p13-11.23		 pathogenic
GRCh38/hg38 20p13(chr20:2526755-3081651)x3 copy number gain See cases [RCV000143472] Chr20:2526755..3081651 [GRCh38]
Chr20:2507401..3062297 [GRCh37]
Chr20:2455401..3010297 [NCBI36]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3 copy number gain See cases [RCV000239772] Chr20:121521..5564937 [GRCh37]
Chr20:20p13-12.3		 pathogenic
GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3 copy number gain See cases [RCV000239954] Chr20:80198..26075841 [GRCh37]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p13(chr20:3026868-3657453)x3 copy number gain See cases [RCV000240074] Chr20:3026868..3657453 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:61568-4914872)x3 copy number gain See cases [RCV000446883] Chr20:61568..4914872 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13(chr20:61568-4904599)x3 copy number gain See cases [RCV000448397] Chr20:61568..4904599 [GRCh37]
Chr20:20p13		 pathogenic
GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3 copy number gain not provided [RCV000487461] Chr20:80198..26208081 [GRCh37]
Chr20:20p13-q11.21		 pathogenic
GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3 copy number gain See cases [RCV000510531] Chr20:213423..5483406 [GRCh37]
Chr20:20p13-12.3		 uncertain significance
GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1 copy number loss See cases [RCV000511897] Chr20:2463101..8185680 [GRCh37]
Chr20:20p13-12.3		 pathogenic
GRCh37/hg19 20p13(chr20:2802218-4019837)x1 copy number loss See cases [RCV000511017] Chr20:2802218..4019837 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 copy number gain See cases [RCV000510832] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555) copy number gain See cases [RCV000512450] Chr20:61569..62915555 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3 copy number gain See cases [RCV000512556] Chr20:61568..10486106 [GRCh37]
Chr20:20p13-12.2		 likely pathogenic
GRCh37/hg19 20p13(chr20:3019956-3178446)x1 copy number loss not provided [RCV000684103] Chr20:3019956..3178446 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 copy number gain not provided [RCV000741059] Chr20:63244..62961294 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
GRCh37/hg19 20p13(chr20:2739583-3064949)x3 copy number gain not provided [RCV000741074] Chr20:2739583..3064949 [GRCh37]
Chr20:20p13		 benign
GRCh37/hg19 20p13-q13.33(chr20:63244-62912463)x3 copy number gain not provided [RCV000741057] Chr20:63244..62912463 [GRCh37]
Chr20:20p13-q13.33		 pathogenic
NM_000915.4(OXT):c.323-5T>C single nucleotide variant not provided [RCV000949086] Chr20:3072358 [GRCh38]
Chr20:3053004 [GRCh37]
Chr20:20p13		 benign
GRCh37/hg19 20p13(chr20:2852007-3084597)x3 copy number gain not provided [RCV001007073] Chr20:2852007..3084597 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:2851899-3110055)x3 copy number gain not provided [RCV000846901] Chr20:2851899..3110055 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:2738670-3054217)x3 copy number gain not provided [RCV000846074] Chr20:2738670..3054217 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 copy number gain not provided [RCV001007068] Chr20:61568..26305479 [GRCh37]
Chr20:20p13-11.1		 pathogenic
GRCh37/hg19 20p13(chr20:2806498-4007381)x1 copy number loss not provided [RCV001007072] Chr20:2806498..4007381 [GRCh37]
Chr20:20p13		 uncertain significance
GRCh37/hg19 20p13(chr20:2802218-4010802)x3 copy number gain not provided [RCV001258752] Chr20:2802218..4010802 [GRCh37]
Chr20:20p13		 uncertain significance
NM_000915.4(OXT):c.-3_9dup (p.Pro4_Ser5insThrMetAlaGly) duplication Neurodevelopmental disorder [RCV001262143] Chr20:3071650..3071651 [GRCh38]
Chr20:3052296..3052297 [GRCh37]
Chr20:20p13		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8528 AgrOrtholog
COSMIC OXT COSMIC
Ensembl Genes ENSG00000101405 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000217386 ENTREZGENE
  ENSP00000217386.2 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000217386 ENTREZGENE
  ENST00000217386.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.9.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101405 GTEx
HGNC ID HGNC:8528 ENTREZGENE
Human Proteome Map OXT Human Proteome Map
InterPro Neurhyp_horm UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurhyp_horm_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Neurohypophysial_hormone_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5020 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5020 ENTREZGENE
OMIM 167050 OMIM
PANTHER PTHR11681 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hormone_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hormone_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA32857 PharmGKB
PIRSF Nonapeptide_hormone_precursor UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS NEUROPHYSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NEUROHYPOPHYS_HORM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00003 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49606 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt NEU1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  X5D7M6 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary Q3MIG0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2012-10-30 OXT  oxytocin/neurophysin I prepropeptide  OXT  oxytocin, prepropeptide  Symbol and/or name change 5135510 APPROVED