AVP (arginine vasopressin) - Rat Genome Database

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Gene: AVP (arginine vasopressin) Homo sapiens
Analyze
Symbol: AVP
Name: arginine vasopressin
RGD ID: 68968
HGNC Page HGNC
Description: Enables cysteine-type endopeptidase inhibitor activity involved in apoptotic process; protein kinase activity; and signaling receptor binding activity. Involved in several processes, including intracellular signal transduction; negative regulation of apoptotic process; and positive regulation of macromolecule metabolic process. Located in extracellular region. Implicated in diabetes insipidus and neurohypophyseal diabetes insipidus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ADH; antidiuretic hormone; arginine vasopressin (neurophysin II, antidiuretic hormone, diabetes insipidus, neurohypophyseal); ARVP; AVP-NPII; AVRP; copeptin; neurohypophyseal; prepro-arginine-vasopressin-neurophysin II; prepro-AVP-NP II; vasopressin-neurophysin 2-copeptin; vasopressin-neurophysin II-copeptin; VP
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
GRCh38203,082,556 - 3,084,724 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl203,082,556 - 3,084,724 (-)EnsemblGRCh38hg38GRCh38
GRCh37203,063,202 - 3,065,370 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36203,011,202 - 3,013,370 (-)NCBINCBI36hg18NCBI36
Build 34203,011,202 - 3,013,370NCBI
Celera203,125,188 - 3,127,356 (-)NCBI
Cytogenetic Map20p13NCBI
HuRef203,011,450 - 3,013,197 (-)NCBIHuRef
CHM1_1203,057,749 - 3,065,399 (-)NCBICHM1_1
T2T-CHM13v2.0203,113,454 - 3,115,623 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-noradrenaline  (ISO)
(S)-colchicine  (ISO)
(S)-nicotine  (ISO)
1-(propan-2-ylamino)-3-(2-prop-2-enoxyphenoxy)-2-propanol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dinitrotoluene  (ISO)
3',5'-cyclic AMP  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
5'-phosphopyridoxal-6-azobenzene-2,4-disulfonic acid  (ISO)
6-oxoprostaglandin F1alpha  (ISO)
actinomycin D  (ISO)
all-trans-retinoic acid  (ISO)
Allylamine  (ISO)
AM-251  (ISO)
ammonium chloride  (ISO)
apomorphine  (EXP)
arachidonic acid  (ISO)
Aroclor 1254  (ISO)
ATP  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
BQ 123  (ISO)
butan-1-ol  (ISO)
Butylparaben  (ISO)
C60 fullerene  (ISO)
cadmium dichloride  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
carvedilol  (EXP,ISO)
chloroquine  (EXP)
chlorpromazine  (EXP,ISO)
chlorpropamide  (EXP)
chlorpyrifos  (EXP)
chromium atom  (ISO)
clonidine  (ISO)
clonidine (amino form)  (ISO)
clonidine (imino form)  (ISO)
corticosterone  (ISO)
cyanamide  (ISO)
DDE  (ISO)
desflurane  (EXP)
desmopressin  (ISO)
dexamethasone  (ISO)
diprotium oxide  (ISO)
doxorubicin  (ISO)
EC 3.4.15.1 (peptidyl-dipeptidase A) inhibitor  (ISO)
enalapril  (ISO)
enzacamene  (ISO)
ethanol  (ISO)
fluoxetine  (ISO)
fluvoxamine  (EXP)
folic acid  (ISO)
furan  (ISO)
genistein  (ISO)
Hexamethonium  (ISO)
hydrochlorothiazide  (EXP)
hydroxyflutamide  (ISO)
ifosfamide  (EXP)
indometacin  (EXP)
isoflurane  (EXP)
labetalol  (EXP)
linsidomine  (ISO)
linuron  (ISO)
lipopolysaccharide  (ISO)
lithium atom  (ISO)
lithium chloride  (ISO)
lithium hydride  (ISO)
Mesna  (EXP)
methamphetamine  (ISO)
methotrexate  (EXP)
metoclopramide  (EXP)
microcystin RR  (ISO)
mifepristone  (ISO)
Muraglitazar  (ISO)
naloxone  (EXP)
nicardipine  (ISO)
nicotine  (ISO)
nifedipine  (ISO)
nitric oxide  (ISO)
oryzalin  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
phenylephrine  (ISO)
phosphatidic acid  (ISO)
prazosin  (ISO)
progesterone  (ISO)
propofol  (EXP)
prostaglandin E2  (ISO)
SCH 23390  (ISO)
scopolamine  (ISO)
sodium chloride  (EXP,ISO)
streptozocin  (ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
tris(picolinato)chromium  (ISO)
urea  (ISO)
valproic acid  (EXP)
vincristine  (EXP)
water  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
apoptotic process  (IEA)
cell-cell signaling  (TAS)
ERK1 and ERK2 cascade  (IDA)
generation of precursor metabolites and energy  (TAS)
grooming behavior  (IEA,ISO)
hyperosmotic salinity response  (IEA,ISO)
locomotory behavior  (IEA,ISO)
maternal aggressive behavior  (IEA,ISO)
maternal behavior  (IEA,ISO)
multicellular organismal water homeostasis  (IEA,ISO)
negative regulation of apoptotic process  (IDA)
negative regulation of cysteine-type endopeptidase activity involved in apoptotic process  (IDA)
negative regulation of female receptivity  (IEA,ISO)
negative regulation of release of cytochrome c from mitochondria  (IDA)
negative regulation of transmission of nerve impulse  (IEA,ISO)
penile erection  (IEA,ISO)
positive regulation of cell growth  (IEA,ISO)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of cellular pH reduction  (IEA,ISO)
positive regulation of cytosolic calcium ion concentration  (IEA,ISO)
positive regulation of gene expression  (IDA)
positive regulation of glutamate secretion  (IEA,ISO)
positive regulation of peptidyl-serine phosphorylation  (IDA)
positive regulation of prostaglandin biosynthetic process  (IEA,ISO)
positive regulation of systemic arterial blood pressure  (IEA,ISO)
positive regulation of vasoconstriction  (IEA,ISO)
protein kinase C signaling  (IDA)
protein phosphorylation  (IEA)
regulation of renal sodium excretion  (IEA,ISO)
response to ethanol  (IEA,ISO)
response to nicotine  (IEA,ISO)
response to organic cyclic compound  (IEA,ISO)
response to testosterone  (IEA,ISO)
signal transduction  (IDA,IEA,TAS)
social behavior  (IEA,ISO)
vasoconstriction  (IEA)
viral entry into host cell  (IDA)
water transport  (TAS)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Physiology and pathophysiology of the vasopressin-regulated renal water reabsorption. Boone M and Deen PM, Pflugers Arch. 2008 Sep;456(6):1005-24. Epub 2008 Apr 23.
2. Utility of AVP gene testing in familial neurohypophyseal diabetes insipidus. Chitturi S, etal., Clin Endocrinol (Oxf). 2008 May 20.
3. 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.
4. Long-term gene therapy in the CNS: reversal of hypothalamic diabetes insipidus in the Brattleboro rat by using an adenovirus expressing arginine vasopressin. Geddes BJ, etal., Nat Med. 1997 Dec;3(12):1402-4. doi: 10.1038/nm1297-1402.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Arginine vasopressin in the pathogenesis of febrile convulsion and temporal lobe epilepsy. Gulec G and Noyan B, Neuroreport. 2002 Nov 15;13(16):2045-8.
7. Restriction of Drinking Water Abrogates Splanchnic Vasodilation and Portal Hypertension in Portal Vein-Ligated Rats. Heinemann A, etal., Pharmacology. 2008 Nov 6;83(1):26-32.
8. 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.
9. Increased expression of renal aquaporin water channels in spontaneously hypertensive rats. Lee J, etal., Kidney Blood Press Res. 2006;29(1):18-23. Epub 2006 Mar 22.
10. Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences Li DQ, etal., Zhejiang Da Xue Xue Bao Yi Xue Ban. 2008 Sep;37(5):468-71.
11. Vasopressin induces vascular superoxide via endothelin-1 in mineralocorticoid hypertension. Li L, etal., Hypertension. 2003 Mar;41(3 Pt 2):663-8. Epub 2002 Dec 16.
12. Arginine-vasopressin mediates central and peripheral glucose regulation in response to carotid body receptor stimulation with Na-cyanide. Montero S, etal., J Appl Physiol. 2006 Jun;100(6):1902-9. Epub 2006 Feb 23.
13. Heterologous expression of human vasopressin-neurophysin precursors in a pituitary cell line: defective transport of a mutant protein from patients with familial diabetes insipidus. Olias G, etal., DNA Cell Biol 1996 Nov;15(11):929-35.
14. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
15. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
16. Vasopressin V(2)-receptor-dependent regulation of AQP2 expression in Brattleboro rats. Promeneur D, etal., Am J Physiol Renal Physiol. 2000 Aug;279(2):F370-82.
17. Adrenal hypersensitivity precedes chronic hypercorticism in streptozotocin-induced diabetes mice. Revsin Y, etal., Endocrinology. 2008 Jul;149(7):3531-9. Epub 2008 Apr 17.
18. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
19. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
20. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
21. Nocturnal polyuria with abnormal circadian rhythm of plasma arginine vasopressin in post-stroke patients. Sakakibara R, etal., Intern Med. 2005 Apr;44(4):281-4.
22. Inherited hypothalamic diabetes insipidus in the Brattleboro strain of rats. Saul GB 2nd, etal., J Hered 1968 Mar-Apr;59(2):113-7.
23. Single base deletion in the vasopressin gene is the cause of diabetes insipidus in Brattleboro rats. Schmale H and Richter D, Nature. 1984 Apr 19-25;308(5961):705-9. doi: 10.1038/308705a0.
24. Familial hypothalamic diabetes insipidus in rats. VALTIN H, etal., Nature. 1962 Dec 15;196:1109-10.
25. Apoptosis of supraoptic AVP neurons is involved in the development of central diabetes insipidus after hypophysectomy in rats. Wang Y, etal., BMC Neurosci. 2008 Jun 25;9:54.
26. Alterations in central neuropeptide expression, release, and receptor binding in rats bred for high anxiety: critical role of vasopressin. Wigger A, etal., Neuropsychopharmacology 2004 Jan;29(1):1-14.
27. Close association of severe hyponatremia with exaggerated release of arginine vasopressin in elderly subjects with secondary adrenal insufficiency. Yatagai T, etal., Eur J Endocrinol. 2003 Feb;148(2):221-6.
28. Enhanced expressions of arginine vasopressin (Avp) in the hypothalamic paraventricular and supraoptic nuclei of type 2 diabetic rats. Yi SS, etal., Neurochem Res. 2008 May;33(5):833-41. Epub 2007 Oct 17.
Additional References at PubMed
PMID:1740104   PMID:1840604   PMID:1968469   PMID:1978246   PMID:2521920   PMID:2874053   PMID:2991279   PMID:3390991   PMID:3768139   PMID:4065330   PMID:6153132   PMID:6574452  
PMID:7271787   PMID:7714110   PMID:7921229   PMID:7929452   PMID:8045958   PMID:8103767   PMID:8106369   PMID:8370682   PMID:8514868   PMID:8550751   PMID:8554046   PMID:8626836  
PMID:8794883   PMID:8989232   PMID:9360520   PMID:9467595   PMID:9580132   PMID:9814475   PMID:10369876   PMID:10443701   PMID:10487710   PMID:10644689   PMID:10677561   PMID:11017955  
PMID:11150885   PMID:11161827   PMID:11384615   PMID:11443218   PMID:11713645   PMID:11748489   PMID:11780052   PMID:11836335   PMID:11857925   PMID:11980620   PMID:12012274   PMID:12036966  
PMID:12107248   PMID:12359138   PMID:12364435   PMID:12403649   PMID:12477932   PMID:12519420   PMID:12566732   PMID:12931042   PMID:13591312   PMID:14510916   PMID:14579113   PMID:14607844  
PMID:14660745   PMID:14673472   PMID:14996841   PMID:15070970   PMID:15203290   PMID:15356057   PMID:15489334   PMID:15538939   PMID:15624761   PMID:16274233   PMID:16333859   PMID:16971491  
PMID:17075130   PMID:17927668   PMID:18092379   PMID:18172431   PMID:18240029   PMID:18256370   PMID:18272843   PMID:18316776   PMID:18384079   PMID:18402937   PMID:18538351   PMID:18673414  
PMID:18807739   PMID:18995178   PMID:19086053   PMID:19114902   PMID:19129716   PMID:19260089   PMID:19322201   PMID:19337789   PMID:19366852   PMID:19500216   PMID:19564455   PMID:19638944  
PMID:19672816   PMID:19821843   PMID:19825939   PMID:19847155   PMID:19897608   PMID:19942636   PMID:19945299   PMID:20010879   PMID:20144509   PMID:20368512   PMID:20413521   PMID:20439785  
PMID:20468064   PMID:20508186   PMID:20620528   PMID:21088058   PMID:21106053   PMID:21123762   PMID:21216019   PMID:21437268   PMID:21490073   PMID:21498630   PMID:21501333   PMID:21519298  
PMID:21554881   PMID:21677651   PMID:21752550   PMID:21766239   PMID:21834801   PMID:21873635   PMID:21899794   PMID:21915168   PMID:21960250   PMID:22104994   PMID:22245314   PMID:22286033  
PMID:22307687   PMID:22516290   PMID:22524462   PMID:22644838   PMID:22695750   PMID:22820037   PMID:22832391   PMID:22921847   PMID:22954353   PMID:23142954   PMID:23235301   PMID:23246575  
PMID:23252994   PMID:23278971   PMID:23298558   PMID:23326397   PMID:23402790   PMID:23499814   PMID:23515451   PMID:23560938   PMID:23584859   PMID:23589638   PMID:23757433   PMID:23958506  
PMID:23973863   PMID:24023652   PMID:24086383   PMID:24156710   PMID:24158882   PMID:24184419   PMID:24215469   PMID:24270077   PMID:24375010   PMID:24412107   PMID:24458227   PMID:24480183  
PMID:24488583   PMID:24617620   PMID:24628831   PMID:24699335   PMID:24722188   PMID:24722436   PMID:24803610   PMID:24853905   PMID:24905622   PMID:24937391   PMID:24954239   PMID:25001273  
PMID:25004250   PMID:25008779   PMID:25011650   PMID:25038511   PMID:25063055   PMID:25224842   PMID:25224940   PMID:25252899   PMID:25383462   PMID:25472823   PMID:25618448   PMID:25691533  
PMID:25740874   PMID:25810383   PMID:25828045   PMID:25837320   PMID:25849778   PMID:25894585   PMID:25918073   PMID:25920022   PMID:25975456   PMID:26069119   PMID:26084546   PMID:26100831  
PMID:26142756   PMID:26196577   PMID:26200092   PMID:26200852   PMID:26201002   PMID:26208472   PMID:26233932   PMID:26286191   PMID:26295806   PMID:26321369   PMID:26341999   PMID:26345979  
PMID:26438275   PMID:26502363   PMID:26565711   PMID:26641207   PMID:26711465   PMID:26864512   PMID:27049477   PMID:27171391   PMID:27190088   PMID:27312697   PMID:27344134   PMID:27347674  
PMID:27396431   PMID:27513365   PMID:27523461   PMID:27539621   PMID:27590891   PMID:27775435   PMID:27870734   PMID:27882774   PMID:27903076   PMID:27904159   PMID:27928437   PMID:27979439  
PMID:28057871   PMID:28069402   PMID:28118730   PMID:28122547   PMID:28164562   PMID:28244638   PMID:28351056   PMID:28408815   PMID:28494452   PMID:28514442   PMID:28552021   PMID:28608287  
PMID:28714397   PMID:28795329   PMID:28845746   PMID:28920920   PMID:28931055   PMID:29074065   PMID:29100503   PMID:29148047   PMID:29190613   PMID:29378555   PMID:29609987   PMID:29619130  
PMID:29665969   PMID:29949799   PMID:30026043   PMID:30071874   PMID:30152888   PMID:30282823   PMID:30309264   PMID:30875611   PMID:31150497   PMID:31230225   PMID:31238300   PMID:31339235  
PMID:31433534   PMID:31538678   PMID:31555795   PMID:31593833   PMID:31701228   PMID:31710639   PMID:31970518   PMID:32052034   PMID:32073219   PMID:32296183   PMID:32413442   PMID:32613311  
PMID:32649233   PMID:32993088   PMID:33080253   PMID:33175594   PMID:33181268   PMID:33361631   PMID:33422647   PMID:33433888   PMID:33570194   PMID:33713620   PMID:33879148   PMID:33952807  
PMID:33961781   PMID:34021479   PMID:34142952   PMID:34319541   PMID:34373451   PMID:34446748   PMID:34719623   PMID:35053326   PMID:35294864  


Genomics

Comparative Map Data
AVP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38203,082,556 - 3,084,724 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl203,082,556 - 3,084,724 (-)EnsemblGRCh38hg38GRCh38
GRCh37203,063,202 - 3,065,370 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36203,011,202 - 3,013,370 (-)NCBINCBI36hg18NCBI36
Build 34203,011,202 - 3,013,370NCBI
Celera203,125,188 - 3,127,356 (-)NCBI
Cytogenetic Map20p13NCBI
HuRef203,011,450 - 3,013,197 (-)NCBIHuRef
CHM1_1203,057,749 - 3,065,399 (-)NCBICHM1_1
T2T-CHM13v2.0203,113,454 - 3,115,623 (-)NCBI
Avp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm392130,422,540 - 130,424,508 (-)NCBIGRCm39mm39
GRCm39 Ensembl2130,422,540 - 130,424,474 (-)Ensembl
GRCm382130,580,620 - 130,582,588 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl2130,580,620 - 130,582,554 (-)EnsemblGRCm38mm10GRCm38
MGSCv372130,406,413 - 130,408,277 (-)NCBIGRCm37mm9NCBIm37
MGSCv362130,272,118 - 130,273,982 (-)NCBImm8
Celera2131,805,101 - 131,806,965 (-)NCBICelera
Cytogenetic Map2F1NCBI
cM Map263.24NCBI
Avp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.23117,793,447 - 117,805,091 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl3117,793,457 - 117,795,425 (-)Ensembl
Rnor_6.03123,117,482 - 123,119,460 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl3123,117,492 - 123,119,460 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.03129,615,610 - 129,627,147 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.43118,205,007 - 118,206,985 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.13118,110,580 - 118,112,558 (-)NCBI
Celera3116,604,316 - 116,606,294 (-)NCBICelera
Cytogenetic Map3q36NCBI
AVP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1202,934,408 - 2,937,077 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v0203,169,094 - 3,172,900 (-)NCBIMhudiblu_PPA_v0panPan3
AVP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12418,183,057 - 18,184,827 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2418,183,057 - 18,184,883 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2418,011,435 - 18,013,192 (+)NCBI
ROS_Cfam_1.02418,601,989 - 18,603,744 (+)NCBI
ROS_Cfam_1.0 Ensembl2418,601,989 - 18,603,744 (+)Ensembl
UMICH_Zoey_3.12418,195,309 - 18,197,064 (+)NCBI
UNSW_CanFamBas_1.02418,307,955 - 18,309,707 (+)NCBI
UU_Cfam_GSD_1.02418,635,781 - 18,637,537 (+)NCBI
AVP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1732,581,230 - 32,583,427 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11732,581,234 - 32,583,145 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21736,950,915 - 36,952,826 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103247178
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1233,761,066 - 33,764,608 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl233,761,140 - 33,763,172 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607110,750,976 - 10,753,915 (+)NCBIVero_WHO_p1.0
Avp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247414,208,329 - 4,210,071 (-)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247414,208,305 - 4,210,097 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
RH98810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37203,063,041 - 3,063,232UniSTSGRCh37
Build 36203,011,041 - 3,011,232RGDNCBI36
Celera203,125,027 - 3,125,218RGD
Cytogenetic Map20p13UniSTS
GeneMap99-GB4 RH Map2013.45UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:310
Count of miRNA genes:265
Interacting mature miRNAs:276
Transcripts:ENST00000380293
Prediction methods:Microtar, 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 2 83 2
Medium 1 2 46 2 4 1 132 2 5 1 3
Low 133 263 270 53 173 45 683 117 844 81 460 156 8 428 191
Below cutoff 739 1173 719 251 642 194 1503 872 1784 122 358 532 60 544 953 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008663 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011529267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB779563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF031475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF031476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF272848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI478178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL121891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL160414 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG715518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M11166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M25647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X62890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X62891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000380293   ⟹   ENSP00000369647
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl203,082,556 - 3,084,724 (-)Ensembl
RefSeq Acc Id: NM_000490   ⟹   NP_000481
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38203,082,556 - 3,084,724 (-)NCBI
GRCh37203,063,202 - 3,065,370 (-)ENTREZGENE
Build 36203,011,202 - 3,013,370 (-)NCBI Archive
HuRef203,011,450 - 3,013,197 (-)ENTREZGENE
CHM1_1203,057,749 - 3,065,399 (-)NCBI
T2T-CHM13v2.0203,113,454 - 3,115,623 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000481   ⟸   NM_000490
- Peptide Label: preproprotein
- UniProtKB: P01185 (UniProtKB/Swiss-Prot),   X5DQP6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000369647   ⟸   ENST00000380293

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P01185-F1-model_v2 AlphaFold P01185 1-164 view protein structure

Promoters
RGD ID:13206209
Promoter ID:EPDNEW_H26685
Type:initiation region
Name:AVP_1
Description:arginine vasopressin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38203,084,743 - 3,084,803EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000490.5(AVP):c.262G>A (p.Gly88Ser) single nucleotide variant Neurohypophyseal diabetes insipidus [RCV000012988] Chr20:3083037 [GRCh38]
Chr20:3063683 [GRCh37]
Chr20:20p13
pathogenic
NM_000490.5(AVP):c.143G>T (p.Gly48Val) single nucleotide variant Neurohypophyseal diabetes insipidus [RCV000012989] Chr20:3083156 [GRCh38]
Chr20:3063802 [GRCh37]
Chr20:20p13
pathogenic
NM_000490.5(AVP):c.55G>A (p.Ala19Thr) single nucleotide variant Neurohypophyseal diabetes insipidus [RCV000012990]|not provided [RCV001701565] Chr20:3084620 [GRCh38]
Chr20:3065266 [GRCh37]
Chr20:20p13
pathogenic
AVP, 3-BP DEL, NT1824 deletion Neurohypophyseal diabetes insipidus [RCV000012991] Chr20:20p13 pathogenic
NM_000490.5(AVP):c.294C>A (p.Cys98Ter) single nucleotide variant Neurohypophyseal diabetes insipidus [RCV000012992] Chr20:3083005 [GRCh38]
Chr20:3063651 [GRCh37]
Chr20:20p13
pathogenic
NM_000490.5(AVP):c.277G>T (p.Gly93Trp) single nucleotide variant Neurohypophyseal diabetes insipidus [RCV000012993] Chr20:3083022 [GRCh38]
Chr20:3063668 [GRCh37]
Chr20:20p13
pathogenic
AVP, 1-BP DEL, 227G deletion Neurohypophyseal diabetes insipidus [RCV000012994] Chr20:20p13 pathogenic
NM_000490.5(AVP):c.287G>T (p.Gly96Val) single nucleotide variant Neurohypophyseal diabetes insipidus [RCV000012995] Chr20:3083012 [GRCh38]
Chr20:3063658 [GRCh37]
Chr20:20p13
pathogenic
NM_000490.5(AVP):c.56C>T (p.Ala19Val) single nucleotide variant Neurohypophyseal diabetes insipidus [RCV000012996] Chr20:3084619 [GRCh38]
Chr20:3065265 [GRCh37]
Chr20:20p13
pathogenic
NM_000490.5(AVP):c.161G>T (p.Gly54Val) single nucleotide variant Neurohypophyseal diabetes insipidus [RCV000012997] Chr20:3083138 [GRCh38]
Chr20:3063784 [GRCh37]
Chr20:20p13
pathogenic
NM_000490.5(AVP):c.160G>C (p.Gly54Arg) single nucleotide variant Neurohypophyseal diabetes insipidus [RCV000012998] Chr20:3083139 [GRCh38]
Chr20:3063785 [GRCh37]
Chr20:20p13
pathogenic
NM_000490.5(AVP):c.337G>T (p.Glu113Ter) single nucleotide variant Neurohypophyseal diabetes insipidus [RCV000012999] Chr20:3082788 [GRCh38]
Chr20:3063434 [GRCh37]
Chr20:20p13
pathogenic
NM_000490.5(AVP):c.260C>T (p.Ser87Phe) single nucleotide variant Neurohypophyseal diabetes insipidus [RCV000013000] Chr20:3083039 [GRCh38]
Chr20:3063685 [GRCh37]
Chr20:20p13
pathogenic
NM_000490.5(AVP):c.275G>A (p.Cys92Tyr) single nucleotide variant Neurohypophyseal diabetes insipidus [RCV000013001] Chr20:3083024 [GRCh38]
Chr20:3063670 [GRCh37]
Chr20:20p13
pathogenic
NM_000490.5(AVP):c.200T>C (p.Val67Ala) single nucleotide variant Neurohypophyseal diabetes insipidus [RCV000013002] Chr20:3083099 [GRCh38]
Chr20:3063745 [GRCh37]
Chr20:20p13
pathogenic
NM_000490.5(AVP):c.20C>T (p.Pro7Leu) single nucleotide variant Diabetes insipidus, neurohypophyseal, autosomal recessive [RCV000013003] Chr20:3084655 [GRCh38]
Chr20:3065301 [GRCh37]
Chr20:20p13
pathogenic
NM_000490.5(AVP):c.346T>G (p.Cys116Gly) single nucleotide variant Neurohypophyseal diabetes insipidus [RCV000013004]|not provided [RCV001701566] Chr20:3082779 [GRCh38]
Chr20:3063425 [GRCh37]
Chr20:20p13
pathogenic
NM_000490.5(AVP):c.61T>C (p.Tyr21His) single nucleotide variant Neurohypophyseal diabetes insipidus [RCV000013005] Chr20:3084614 [GRCh38]
Chr20:3065260 [GRCh37]
Chr20:20p13
pathogenic
AVP, 3-BP DEL, PHE3DEL deletion Neurohypophyseal diabetes insipidus [RCV000013006] Chr20:20p13 pathogenic
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 20p13-12.3(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
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
NM_000490.5(AVP):c.131G>T (p.Cys44Phe) single nucleotide variant Neurohypophyseal diabetes insipidus [RCV000408826] Chr20:3083168 [GRCh38]
Chr20:3063814 [GRCh37]
Chr20:20p13
likely pathogenic
NM_000490.5(AVP):c.92G>A (p.Arg31Lys) single nucleotide variant not provided [RCV000722706] Chr20:3084583 [GRCh38]
Chr20:3065229 [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
NM_000490.5(AVP):c.329G>A (p.Cys110Tyr) single nucleotide variant Diabetes insipidus [RCV002051851]|not provided [RCV000440799] Chr20:3082796 [GRCh38]
Chr20:3063442 [GRCh37]
Chr20:20p13
likely pathogenic|uncertain significance
GRCh37/hg19 20p13(chr20:61568-4904599)x3 copy number gain See cases [RCV000448397] Chr20:61568..4904599 [GRCh37]
Chr20:20p13
pathogenic
NM_000490.5(AVP):c.323A>T (p.Glu108Val) single nucleotide variant not provided [RCV000481533] Chr20:3082802 [GRCh38]
Chr20:3063448 [GRCh37]
Chr20:20p13
uncertain significance
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
NM_000490.5(AVP):c.322+2T>G single nucleotide variant not provided [RCV000681671] Chr20:3082975 [GRCh38]
Chr20:3063621 [GRCh37]
Chr20:20p13
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
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 copy number gain not provided [RCV000741058] Chr20:63244..62948788 [GRCh37]
Chr20:20p13-q13.33
pathogenic
NM_000490.5(AVP):c.120+252G>A single nucleotide variant not provided [RCV001539671] Chr20:3084303 [GRCh38]
Chr20:3064949 [GRCh37]
Chr20:20p13
benign
NM_000490.5(AVP):c.363C>T (p.His121=) single nucleotide variant not provided [RCV000923001] Chr20:3082762 [GRCh38]
Chr20:3063408 [GRCh37]
Chr20:20p13
likely benign
GRCh37/hg19 20p13(chr20:2806498-4007381)x1 copy number loss not provided [RCV001007072] Chr20:2806498..4007381 [GRCh37]
Chr20:20p13
uncertain significance
NM_000490.5(AVP):c.245C>T (p.Pro82Leu) single nucleotide variant not provided [RCV000923201] Chr20:3083054 [GRCh38]
Chr20:3063700 [GRCh37]
Chr20:20p13
benign
GRCh37/hg19 20p13(chr20:2851899-3110055)x3 copy number gain not provided [RCV000846901] Chr20:2851899..3110055 [GRCh37]
Chr20:20p13
uncertain significance
NM_000490.5(AVP):c.319G>A (p.Asp107Asn) single nucleotide variant not provided [RCV000899193] Chr20:3082980 [GRCh38]
Chr20:3063626 [GRCh37]
Chr20:20p13
benign
NM_000490.5(AVP):c.132C>T (p.Cys44=) single nucleotide variant not provided [RCV000885346] Chr20:3083167 [GRCh38]
Chr20:3063813 [GRCh37]
Chr20:20p13
likely benign
NM_000490.5(AVP):c.230A>T (p.Glu77Val) single nucleotide variant not provided [RCV000888262] Chr20:3083069 [GRCh38]
Chr20:3063715 [GRCh37]
Chr20:20p13
benign
NM_000490.5(AVP):c.240C>T (p.Tyr80=) single nucleotide variant not provided [RCV000931955] Chr20:3083059 [GRCh38]
Chr20:3063705 [GRCh37]
Chr20:20p13
likely benign
NM_000490.5(AVP):c.54C>T (p.Ser18=) single nucleotide variant not provided [RCV000914944] Chr20:3084621 [GRCh38]
Chr20:3065267 [GRCh37]
Chr20:20p13
likely benign
NM_000490.5(AVP):c.150C>A (p.Gly50=) single nucleotide variant not provided [RCV000898097] Chr20:3083149 [GRCh38]
Chr20:3063795 [GRCh37]
Chr20:20p13
benign
Single allele single nucleotide variant not provided [RCV001539506] Chr20:3082515 [GRCh38]
Chr20:3063161 [GRCh37]
Chr20:20p13
benign
NM_000490.5(AVP):c.121-286T>C single nucleotide variant not provided [RCV001635877] Chr20:3083464 [GRCh38]
Chr20:3064110 [GRCh37]
Chr20:20p13
benign
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(chr20:2852007-3084597)x3 copy number gain not provided [RCV001007073] Chr20:2852007..3084597 [GRCh37]
Chr20:20p13
uncertain significance
NM_000490.5(AVP):c.260C>A (p.Ser87Tyr) single nucleotide variant not provided [RCV001702024] Chr20:3083039 [GRCh38]
Chr20:3063685 [GRCh37]
Chr20:20p13
pathogenic|likely pathogenic
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del) microsatellite Neurohypophyseal diabetes insipidus [RCV001253211] Chr20:3083065..3083067 [GRCh38]
Chr20:3063711..3063713 [GRCh37]
Chr20:20p13
likely pathogenic
GRCh37/hg19 20p13(chr20:2802218-4010802)x3 copy number gain not provided [RCV001258752] Chr20:2802218..4010802 [GRCh37]
Chr20:20p13
uncertain significance
Single allele single nucleotide variant not provided [RCV001617020] Chr20:3084901 [GRCh38]
Chr20:3065547 [GRCh37]
Chr20:20p13
benign
NM_000490.5(AVP):c.322+28dup duplication not provided [RCV001648847] Chr20:3082941..3082942 [GRCh38]
Chr20:3063587..3063588 [GRCh37]
Chr20:20p13
benign
NM_000490.5(AVP):c.322+28_322+29dup duplication not provided [RCV001680192] Chr20:3082941..3082942 [GRCh38]
Chr20:3063587..3063588 [GRCh37]
Chr20:20p13
benign
NM_000490.5(AVP):c.127C>G (p.Pro43Ala) single nucleotide variant not provided [RCV002127833] Chr20:3083172 [GRCh38]
Chr20:3063818 [GRCh37]
Chr20:20p13
benign
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

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:894 AgrOrtholog
COSMIC AVP COSMIC
Ensembl Genes ENSG00000101200 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000369647 ENTREZGENE
  ENSP00000369647.3 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000380293 ENTREZGENE
  ENST00000380293.3 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.9.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000101200 GTEx
HGNC ID HGNC:894 ENTREZGENE
Human Proteome Map AVP 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:551 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 551 ENTREZGENE
OMIM 125700 OMIM
  192340 OMIM
PANTHER PTHR11681 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Hormone_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hormone_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25186 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 NEU2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9HB76_HUMAN UniProtKB/TrEMBL
  Q9UMM9_HUMAN UniProtKB/TrEMBL
  S6BQ34_HUMAN UniProtKB/TrEMBL
  X5D8U4_HUMAN UniProtKB/TrEMBL
  X5DQP6 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A0AV35 UniProtKB/Swiss-Prot
  O14935 UniProtKB/Swiss-Prot