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Aliases for AVP Gene

Aliases for AVP Gene

  • Arginine Vasopressin 2 3
  • VP 3 4 6
  • Prepro-Arginine-Vasopressin-Neurophysin II 2 3
  • Antidiuretic Hormone 2 3
  • Neurohypophyseal 2 3
  • Prepro-AVP-NP II 2 3
  • AVP-NPII 3 4
  • ARVP 3 4
  • AVRP 3 6
  • Vasopressin-Neurophysin II-Copeptin 3
  • Vasopressin-Neurophysin 2-Copeptin 3
  • Diabetes Insipidus 2
  • Neurophysin II 2
  • ADH 3

External Ids for AVP Gene

Previous Symbols for AVP Gene

  • ARVP

Summaries for AVP Gene

Entrez Gene Summary for AVP Gene

  • This gene encodes a precursor protein consisting of arginine vasopressin and two associated proteins, neurophysin 2 and a glycopeptide, copeptin. Arginine vasopressin is a posterior pituitary hormone which 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). [provided by RefSeq, Mar 2010]

GeneCards Summary for AVP Gene

AVP (Arginine Vasopressin) is a Protein Coding gene. Diseases associated with AVP include diabetes insipidus, neurohypophyseal and neurogenic diabetes insipidus. Among its related pathways are Signaling by GPCR and Signaling by GPCR. GO annotations related to this gene include receptor binding and protein kinase activity. An important paralog of this gene is OXT.

UniProtKB/Swiss-Prot for AVP Gene

  • Neurophysin 2 specifically binds vasopressin

  • Vasopressin has a direct antidiuretic action on the kidney, it also causes vasoconstriction of the peripheral vessels

Tocris Summary for AVP Gene

  • 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). V1A is coupled to Gq/11 proteins and is found at high density on smooth muscle cells. It is involved in regulation of blood pressure through arterial vasoconstriction and has been found to stimulate VEGF secretion. V1B is located in the hypothalamus, where it controls ACTH secretion, and in the pancreas, where it is involved in insulin release. V2 is coupled to Gs proteins and is found exclusively on the basolateral membrane of collecting duct cells in the kidney, where it regulates water excretion.

Gene Wiki entry for AVP Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AVP Gene

Genomics for AVP Gene

Genomic Location for AVP Gene

Start:
3,082,556 bp from pter
End:
3,084,724 bp from pter
Size:
2,169 bases
Orientation:
Minus strand

Genomic View for AVP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for AVP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AVP Gene

Regulatory Elements for AVP Gene

Proteins for AVP Gene

  • Protein details for AVP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P01185-NEU2_HUMAN
    Recommended name:
    Vasopressin-neurophysin 2-copeptin
    Protein Accession:
    P01185
    Secondary Accessions:
    • A0AV35
    • O14935

    Protein attributes for AVP Gene

    Size:
    164 amino acids
    Molecular mass:
    17325 Da
    Quaternary structure:
    No Data Available

neXtProt entry for AVP Gene

Proteomics data for AVP Gene at MOPED

Post-translational modifications for AVP Gene

Other Protein References for AVP Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for AVP Gene

Domains for AVP Gene

Gene Families for AVP Gene

HGNC:

Protein Domains for AVP Gene

UniProtKB/Swiss-Prot:

NEU2_HUMAN
Family:
  • Belongs to the vasopressin/oxytocin family.:
    • P01185
genes like me logo Genes that share domains with AVP: view

Function for AVP Gene

Molecular function for AVP Gene

GENATLAS Biochemistry: arginine vasopressin (neurophysin II,copeptide precursor)
UniProtKB/Swiss-Prot Function: Neurophysin 2 specifically binds vasopressin
UniProtKB/Swiss-Prot Function: Vasopressin has a direct antidiuretic action on the kidney, it also causes vasoconstriction of the peripheral vessels

Gene Ontology (GO) - Molecular Function for AVP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IDA 18402937
GO:0004871 signal transducer activity IDA 18402937
GO:0005102 receptor binding TAS 1740104
GO:0005184 neuropeptide hormone activity TAS 1740104
GO:0005185 neurohypophyseal hormone activity IEA --
genes like me logo Genes that share ontologies with AVP: view
genes like me logo Genes that share phenotypes with AVP: view

miRNA for AVP Gene

miRTarBase miRNAs that target AVP

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for AVP Gene

Localization for AVP Gene

Subcellular locations from UniProtKB/Swiss-Prot for AVP Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for AVP Gene COMPARTMENTS Subcellular localization image for AVP gene
Compartment Confidence
extracellular 5
cytosol 4
plasma membrane 3
cytoskeleton 2
endoplasmic reticulum 2
endosome 2
golgi apparatus 2
nucleus 2
mitochondrion 1
vacuole 1

Gene Ontology (GO) - Cellular Components for AVP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005829 cytosol TAS --
GO:0030141 secretory granule IEA --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with AVP: view

Pathways for AVP Gene

genes like me logo Genes that share pathways with AVP: view

Pathways by source for AVP Gene

Gene Ontology (GO) - Biological Process for AVP Gene

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 IDA 18402937
genes like me logo Genes that share ontologies with AVP: view

Compounds for AVP Gene

(5) Tocris Compounds for AVP Gene

Compound Action Cas Number
(d(CH2)51,Tyr(Me)2,Arg8)-Vasopressin Selective vasopressin V1A antagonist [73168-24-8]
[Arg8]-Vasopressin Antidiuretic hormone [113-79-1]
d[Leu4,Lys8]-VP Selective V1B agonist [42061-33-6]
Desmopressin Synthetic vasopressin analog; V1B and V2 agonist [16679-58-6]
SR 49059 Selective, orally active vasopressin V1A receptor antagonist [150375-75-0]

(31) Novoseek inferred chemical compound relationships for AVP Gene

Compound -log(P) Hits PubMed IDs
arginine 79.4 76
desmopressin 58.6 6
acth 48.8 17
sodium 36.7 11
phenylalanine 18.2 5
genes like me logo Genes that share compounds with AVP: view

Transcripts for AVP Gene

mRNA/cDNA for AVP Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for AVP Gene

Arginine vasopressin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for AVP Gene

No ASD Table

Relevant External Links for AVP Gene

GeneLoc Exon Structure for
AVP
ECgene alternative splicing isoforms for
AVP

Expression for AVP Gene

mRNA expression in normal human tissues for AVP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for AVP Gene

This gene is overexpressed in Brain - Hypothalamus (52.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for AVP Gene

SOURCE GeneReport for Unigene cluster for AVP Gene Hs.89648

genes like me logo Genes that share expressions with AVP: view

Orthologs for AVP Gene

This gene was present in the common ancestor of chordates.

Orthologs for AVP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia AVP 36
  • 97.36 (n)
  • 94.51 (a)
AVP 37
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia AVP 36
  • 91.67 (n)
  • 90.24 (a)
AVP 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AVP 36
  • 92.17 (n)
  • 92.62 (a)
AVP 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Avp 36
  • 84.96 (n)
  • 81.71 (a)
Avp 16
Avp 37
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 69 (a)
ManyToMany
-- 37
  • 57 (a)
ManyToMany
-- 37
  • 66 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 62 (a)
ManyToMany
-- 37
  • 68 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia Avp 36
  • 83.54 (n)
  • 80.49 (a)
chicken
(Gallus gallus)
Aves AVP 36
  • 68.67 (n)
  • 61.33 (a)
MST 37
  • 59 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia avp 36
  • 63.58 (n)
  • 57.62 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8741 36
zebrafish
(Danio rerio)
Actinopterygii oxt 36
  • 58.68 (n)
  • 51.37 (a)
oxt 37
  • 49 (a)
OneToMany
vsnp 36
Species with no ortholog for AVP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for AVP Gene

ENSEMBL:
Gene Tree for AVP (if available)
TreeFam:
Gene Tree for AVP (if available)

Paralogs for AVP Gene

Paralogs for AVP Gene

Selected SIMAP similar genes for AVP Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with AVP: view

Variants for AVP Gene

Sequence variations from dbSNP and Humsavar for AVP Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs5195 - 3,083,054(-) CCTGC(C/T)GTCGC reference, missense
rs1051744 - 3,082,769(-) CGAGG(G/T)CTTTC reference, missense
rs1051746 -- 3,082,623(-) CCCCG(C/T)GCTCG utr-variant-3-prime
rs1051747 -- 3,082,621(-) CCGCG(C/T)TCGCC utr-variant-3-prime
rs1051748 -- 3,082,617(-) GCTCG(C/T)CCCAC utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for AVP Gene

Variant ID Type Subtype PubMed ID
nsv912603 CNV Gain 21882294
nsv833897 CNV Loss 17160897

Relevant External Links for AVP Gene

HapMap Linkage Disequilibrium report
AVP
Human Gene Mutation Database (HGMD)
AVP
Locus Specific Mutation Databases (LSDB)
AVP

Disorders for AVP Gene

(1) OMIM Diseases for AVP Gene (192340)

UniProtKB/Swiss-Prot

NEU2_HUMAN
  • Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]: A disease characterized by persistent thirst, polydipsia and polyuria. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood. {ECO:0000269 PubMed:10369876, ECO:0000269 PubMed:10487710, ECO:0000269 PubMed:10677561, ECO:0000269 PubMed:11017955, ECO:0000269 PubMed:11150885, ECO:0000269 PubMed:11161827, ECO:0000269 PubMed:11443218, ECO:0000269 PubMed:11748489, ECO:0000269 PubMed:11980620, ECO:0000269 PubMed:12012274, ECO:0000269 PubMed:12107248, ECO:0000269 PubMed:12359138, ECO:0000269 PubMed:12519420, ECO:0000269 PubMed:12931042, ECO:0000269 PubMed:14510916, ECO:0000269 PubMed:14673472, ECO:0000269 PubMed:15538939, ECO:0000269 PubMed:1740104, ECO:0000269 PubMed:7714110, ECO:0000269 PubMed:8045958, ECO:0000269 PubMed:8103767, ECO:0000269 PubMed:8370682, ECO:0000269 PubMed:8514868, ECO:0000269 PubMed:8554046, ECO:0000269 PubMed:9360520, ECO:0000269 PubMed:9580132, ECO:0000269 PubMed:9814475}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(26) Novoseek inferred disease relationships for AVP Gene

Disease -log(P) Hits PubMed IDs
central diabetes insipidus 94.5 43
hyponatremia 62.4 16
siadh 61.2 6
diabetes insipidus nephrogenic 57.6 3
carcinoma oat cell 54.9 2

Relevant External Links for AVP

Genetic Association Database (GAD)
AVP
Human Genome Epidemiology (HuGE) Navigator
AVP
genes like me logo Genes that share disorders with AVP: view

Publications for AVP Gene

  1. A de novo mutation in the coding sequence for neurophysin-II (Pro24-->Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus. (PMID: 8045958) Repaske D.R. … Browning J.E. (J. Clin. Endocrinol. Metab. 1994) 3 4 23 49
  2. Autosomal dominant neurohypophyseal diabetes insipidus associated with a missense mutation encoding Gly23-->Val in neurophysin II. (PMID: 9360520) Gagliardi P.C. … Repaske D.R. (J. Clin. Endocrinol. Metab. 1997) 3 4 23
  3. Familial neurohypophyseal diabetes insipidus associated with a novel mutation in the vasopressin-neurophysin II gene. (PMID: 10677561) Fujii H. … Moriwaki K. (Int. J. Mol. Med. 2000) 3 4 23
  4. A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes. (PMID: 11150885) Skordis N. … Phillips J.A. III (Horm. Res. 2000) 3 4 23
  5. A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus. (PMID: 11161827) DiMeglio L.A. … Repaske D.R. (Mol. Genet. Metab. 2001) 3 4 23

Products for AVP Gene

  • Addgene plasmids for AVP

Sources for AVP Gene

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