Human Gene AVP (ENST00000380293.3) from GENCODE V39
  Description: Homo sapiens arginine vasopressin (AVP), mRNA. (from RefSeq NM_000490)
RefSeq Summary (NM_000490): 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].
Gencode Transcript: ENST00000380293.3
Gencode Gene: ENSG00000101200.5
Transcript (Including UTRs)
   Position: hg38 chr20:3,082,556-3,084,724 Size: 2,169 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg38 chr20:3,082,630-3,084,674 Size: 2,045 Coding Exon Count: 3 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2022-01-17 08:30:34

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:3,082,556-3,084,724)mRNA (may differ from genome)Protein (164 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMGIOMIMPubMed
UniProtKBWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: AVP
Diseases sorted by gene-association score: diabetes insipidus, neurohypophyseal* (1364), hereditary central diabetes insipidus* (368), diabetes insipidus (86), syndrome of inappropriate antidiuretic hormone (27), inappropriate adh syndrome (20), secondary adrenal insufficiency (18), small cell cancer of the lung, somatic (15), nephrogenic syndrome of inappropriate antidiuresis (13), diabetes insipidus, nephrogenic (12), wolfram syndrome (12), central nervous system organ benign neoplasm (11), myxedema (11), brain germinoma (11), cranial nerve malignant neoplasm (11), impaired renal function disease (9), bronchus cancer (9), space motion sickness (9), paralytic ileus (9), tuberculous epididymitis (8), mixed type thymoma (8), olfactory nerve neoplasm (8), central nervous system germinoma (7), secondary hypertrophic osteoarthropathy (7), haemophilus meningitis (7), benign essential hypertension (7), pituitary hormone deficiency, combined, 2 (7), central nervous system germ cell tumor (6), oculomotor nerve paralysis (6), third cranial nerve disease (6), brain compression (6), pancoast tumor (6), cardiac arrest (5), dental abscess (5), chromophobe adenoma (5), motion sickness (5), sphenoid sinusitis (5), pancreas disease (5), pituitary gland disease (5), superior mesenteric artery syndrome (5), vestibular disease (5), sesame syndrome (4), peripheral vertigo (4), granulomatous angiitis (4), letterer-siwe disease (4), hemopneumothorax (4), analbuminemia (4), carotid artery dissection (4), infant botulism (4), plexopathy (4), premenstrual tension (4), cervix small cell carcinoma (4), granulomatous hepatitis (3), heart disease (3), urinary system disease (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 185.85 RPKM in Brain - Hypothalamus
Total median expression: 189.71 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -18.0050-0.360 Picture PostScript Text
3' UTR -22.5074-0.304 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsembl   
Protein SequenceProtein SequenceProtein Sequence   
AlignmentAlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  M25647 - Human vasopressin mRNA, complete cds.
BC126196 - Homo sapiens arginine vasopressin, mRNA (cDNA clone MGC:161474 IMAGE:8991912), complete cds.
BC018062 - Homo sapiens arginine vasopressin, mRNA (cDNA clone IMAGE:4798442), containing frame-shift errors.
X03172 - Human mRNA for vasopressin precursor.
AF031476 - Homo sapiens vasopressin precursor, mRNA, complete cds.
BC126224 - Homo sapiens arginine vasopressin, mRNA (cDNA clone MGC:161502 IMAGE:8991940), complete cds.
KJ890747 - Synthetic construct Homo sapiens clone ccsbBroadEn_00141 AVP gene, encodes complete protein.
KJ534777 - Homo sapiens clone AVP_iso-B_adult-A04 arginine vasopressin isoform B (AVP) mRNA, partial cds, alternatively spliced.
KJ534778 - Homo sapiens clone AVP_iso-A_adult-A16 arginine vasopressin isoform A (AVP) mRNA, partial cds, alternatively spliced.
AF031475 - Homo sapiens vasopressin-neurophysin precursor, mRNA, partial cds.
JD186797 - Sequence 167821 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04080 - Neuroactive ligand-receptor interaction
hsa04270 - Vascular smooth muscle contraction
hsa04962 - Vasopressin-regulated water reabsorption

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000380293.1, ENST00000380293.2, NM_000490, uc002whu.1, uc002whu.2, uc002whu.3, X5DQP6
UCSC ID: ENST00000380293.3
RefSeq Accession: NM_000490
CCDS: CCDS13045.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.