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This gene encodes a member of the vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the neuropeptide hormone arginine vasopressin, and two other peptides, neurophysin 2 and copeptin. Arginine vasopressin is a posterior pituitary hormone that is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, 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 is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract 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. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). This gene is present in a gene cluster with the related gene oxytocin on chromosome 20. [provided by RefSeq, Nov 2015]
AVP (Arginine Vasopressin) is a Protein Coding gene. Diseases associated with AVP include Diabetes Insipidus, Neurohypophyseal and Hereditary Central Diabetes Insipidus. Among its related pathways are Signaling by GPCR and Peptide ligand-binding receptors. Gene Ontology (GO) annotations related to this gene include protein kinase activity and obsolete signal transducer activity. An important paralog of this gene is OXT.
Vasopressin receptors are a group of G-protein-coupled receptors that mediate vasoconstriction, antidiuresis and ACTH release. They are currently divided into three subtypes, V1A, V1B and V2 and are closely related to oxytocin receptors (OT).
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH20J003092 | Promoter/Enhancer | 1.1 | FANTOM5 Ensembl ENCODE | 250.7 | -0.1 | -140 | 2.5 | BHLHE40 SIN3A POLR2A TAF1 ARID1B EZH2 NR2F2 KDM1A | AVP RF00017-3499 RN7SL555P lnc-OXT-2 SNRPB PCED1A UBOX5 FASTKD5 PTPRA | |
GH20J003085 | Promoter | 0.5 | EPDnew | 250.4 | +8.8 | 8758 | 0.1 | ZIC2 ZBTB33 | lnc-AVP-1 AVP HSALNG0128229 L13704-001 OXT | |
GH20J003093 | Enhancer | 0.2 | Ensembl | 250.7 | +1.4 | 1420 | 0.2 | AVP PCED1A L13704-001 OXT | ||
GH20J003172 | Promoter/Enhancer | 2.4 | EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas | 4.1 | -80.9 | -80879 | 3.6 | ZSCAN16 CHD2 SP1 ZBTB10 MXD4 CEBPA IKZF1 ZBTB7B ZEB1 ZIC2 | LZTS3 LOC107985414 MN297785 lnc-ITPA-2 ITPA DDRGK1 ZNF343 PANK2-AS1 SNRPB VPS16 | |
GH20J004076 | Enhancer | 0.7 | ENCODE dbSUPER | 5.5 | -983.3 | -983252 | 1 | CEBPB EP300 STAT3 JUND MEIS2 POLR2A FOS | ENSG00000205300 MN298678-039 AVP SMOX RNF24 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004672 | protein kinase activity | IDA | 18402937 |
GO:0005102 | signaling receptor binding | TAS | 1740104 |
GO:0005179 | hormone activity | IEA | -- |
GO:0005184 | neuropeptide hormone activity | IEA,IDA | 18402937 |
GO:0005185 | neurohypophyseal hormone activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | TAS | -- |
GO:0005615 | extracellular space | IEA,IBA | 21873635 |
GO:0005829 | cytosol | TAS | -- |
GO:0030141 | secretory granule | IEA,IBA | 21873635 |
GO:0030425 | dendrite | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Peptide ligand-binding receptors | ||
2 | Signaling by GPCR | ||
3 | Aquaporin-mediated transport | ||
4 | BMAL1-CLOCK,NPAS2 activates circadian gene expression |
.68
|
|
5 | Clathrin-mediated endocytosis |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0002125 | maternal aggressive behavior | IEA | -- |
GO:0003084 | positive regulation of systemic arterial blood pressure | IEA | -- |
GO:0003091 | renal water homeostasis | TAS | -- |
GO:0006091 | generation of precursor metabolites and energy | TAS | 1740104 |
GO:0006468 | protein phosphorylation | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Norepinephrine | Approved | Pharma | 1003 | |||
Desmopressin | Approved | Pharma | Hemostatic and anti-diuretic, Synthetic vasopressin analog; V1B and V2 agonist | 0 | ||
Angiotensin II | Approved, Investigational | Pharma | Potent vasopressor and a powerful stimulus for production and release of aldosterone from the adrenal cortex. | 1402 | ||
2-Butanol | Experimental, Investigational | Pharma | Target | 0 | ||
NADP | Experimental | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
[Arg8]-Vasopressin |
|
113-79-1 |
|
|
||
[Lys8]-Vasopressin |
|
50-57-7 |
|
|
Compound | Action | Cas Number |
---|---|---|
[Arg8]-Vasopressin | Antidiuretic hormone | 113-79-1 |
[Lys8]-Vasopressin | Antidiuretic hormone | 50-57-7 |
d[Cha4]-AVP | Potent and selective human V1B agonist | 500170-27-4 |
d[Leu4,Lys8]-VP | Selective V1B agonist | 42061-33-6 |
Desmopressin | Synthetic vasopressin analog; V1B and V2 agonist | 16679-58-6 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | AVP 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | AVP 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | AVP 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Avp 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Avp 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
-- 31 |
|
ManyToMany | |||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Chicken (Gallus gallus) |
Aves | AVP 30 |
|
||
MST 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | avp 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | oxt 30 31 |
|
OneToMany | |
vsnp 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8741 30 |
|
SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
976038 | Likely Pathogenic: Neurohypophyseal diabetes insipidus | 3,083,064(-) |
TCTC/T NM_000490.5(AVP):c.229GAG[1] (p.Glu78del) |
INFRAME_DELETION | |
rs1057516192 | Likely Pathogenic: Neurohypophyseal diabetes insipidus | 3,083,168(-) |
C/A NM_000490.5(AVP):c.131G>T (p.Cys44Phe) |
MISSENSE | |
rs1057521601 | Uncertain Significance: not provided | 3,082,796(-) |
C/T NM_000490.5(AVP):c.329G>A (p.Cys110Tyr) |
MISSENSE | |
rs1064796944 | Uncertain Significance: not provided | 3,082,802(-) |
T/A NM_000490.5(AVP):c.323A>T (p.Glu108Val) |
MISSENSE | |
rs121964882 | Pathogenic: Neurohypophyseal diabetes insipidus. Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] | 3,083,037(-) |
C/Tp.Gly88Ser NM_000490.5(AVP):c.262G>A (p.Gly88Ser) |
MISSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
diabetes insipidus, neurohypophyseal |
|
|
hereditary central diabetes insipidus |
|
|
diabetes insipidus |
|
|
inappropriate adh syndrome |
|
|
secondary adrenal insufficiency |
|
|