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Aliases for AVP Gene

Aliases for AVP Gene

  • Arginine Vasopressin 2 3 5
  • Prepro-Arginine-Vasopressin-Neurophysin II 2 3
  • Antidiuretic Hormone 2 3
  • Neurohypophyseal 2 3
  • Prepro-AVP-NP II 2 3
  • Copeptin 2 3
  • AVP-NPII 3 4
  • ARVP 3 4
  • VP 3 4
  • Vasopressin-Neurophysin II-Copeptin 3
  • Diabetes Insipidus 2
  • Neurophysin II 2
  • AVRP 3
  • ADH 3

External Ids for AVP Gene

Previous HGNC Symbols for AVP Gene

  • ARVP

Previous GeneCards Identifiers for AVP Gene

  • GC20M003051
  • GC20M003011
  • GC20M003058
  • GC20M003063

Summaries for AVP Gene

Entrez Gene Summary for AVP Gene

  • 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]

GeneCards Summary for AVP Gene

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 Infectious disease. GO annotations related to this gene include protein kinase activity and signal transducer 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).

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

Regulatory Elements for AVP Gene

Promoters for AVP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around AVP on UCSC Golden Path with GeneCards custom track

Genomic Location for AVP Gene

Chromosome:
20
Start:
3,082,555 bp from pter
End:
3,093,521 bp from pter
Size:
10,967 bases
Orientation:
Minus strand

Genomic View for AVP Gene

Genes around AVP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AVP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AVP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Glycosylation at Asn 131
  • Modification sites at PhosphoSitePlus

Other Protein References for AVP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for AVP (AVP)

No data available for DME Specific Peptides for AVP Gene

Domains & Families for AVP Gene

Gene Families for AVP Gene

Protein Domains for AVP Gene

Suggested Antigen Peptide Sequences for AVP Gene

Graphical View of Domain Structure for InterPro Entry

P01185

UniProtKB/Swiss-Prot:

NEU2_HUMAN :
  • Belongs to the vasopressin/oxytocin family.
Family:
  • Belongs to the vasopressin/oxytocin family.
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:0005102 receptor binding TAS 1740104
genes like me logo Genes that share ontologies with AVP: view
genes like me logo Genes that share phenotypes with AVP: view

Human Phenotype Ontology for AVP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for AVP Gene

MGI Knock Outs for AVP:
  • Avp tm1b(EUCOMM)Wtsi

Animal Model Products

miRNA for AVP Gene

miRTarBase miRNAs that target AVP

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
cytosol 5
extracellular 5
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 2
nucleus 2
plasma membrane 2
vacuole 2
endosome 1
golgi apparatus 1
lysosome 1

Gene Ontology (GO) - Cellular Components for AVP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with AVP: view

Pathways & Interactions for AVP Gene

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

SIGNOR curated interactions for AVP Gene

Activates:
Inactivates:

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:0006833 water transport TAS 1740104
genes like me logo Genes that share ontologies with AVP: view

Drugs & Compounds for AVP Gene

(31) Drugs for AVP Gene - From: Novoseek, ClinicalTrials, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Desmopressin Approved Pharma Full agonist, Agonist Synthetic vasopressin analog; V1B and V2 agonist 0
arginine Nutra 364
Angiotensin II Pharma Full agonist, Agonist Potent vasopressor and a powerful stimulus for production and release of aldosterone from the adrenal cortex. 1033
Angiotensinogen Pharma 1032
Arginine Vasopressin Pharma 264

(13) Additional Compounds for AVP Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[Arg8]-Vasopressin
113-79-1
[Lys8]-Vasopressin
50-57-7
d[Cha4]-AVP
500170-27-4
d[Leu4,Lys8]-VP
42061-33-6

(5) Tocris Compounds for AVP Gene

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
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:

Inhibitory RNA Products

Flow Cytometry Products

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 (x52.8).

Protein differential expression in normal tissues from HIPED for AVP Gene

This gene is overexpressed in Fetal ovary (51.4) and Fetal Brain (17.6).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with AVP: view

Protein tissue co-expression partners for AVP Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for AVP Gene

Orthologs for AVP Gene

This gene was present in the common ancestor of chordates.

Orthologs for AVP Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia AVP 35
  • 91.67 (n)
  • 90.24 (a)
AVP 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia AVP 35
  • 92.17 (n)
  • 92.62 (a)
AVP 36
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Avp 35
  • 84.96 (n)
  • 81.71 (a)
Avp 16
Avp 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia AVP 35
  • 97.36 (n)
  • 94.51 (a)
AVP 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Avp 35
  • 83.54 (n)
  • 80.49 (a)
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 69 (a)
ManyToMany
-- 36
  • 57 (a)
ManyToMany
-- 36
  • 66 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 62 (a)
ManyToMany
-- 36
  • 68 (a)
ManyToMany
chicken
(Gallus gallus)
Aves AVP 35
  • 68.67 (n)
  • 61.33 (a)
MST 36
  • 59 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia avp 35
  • 63.58 (n)
  • 57.62 (a)
zebrafish
(Danio rerio)
Actinopterygii oxt 35
  • 58.68 (n)
  • 51.37 (a)
vsnp 35
oxt 36
  • 49 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8741 35
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

(1) 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
VAR_004980 Diabetes insipidus, neurohypophyseal (NDI)
VAR_004981 Diabetes insipidus, neurohypophyseal (NDI)
VAR_004982 Diabetes insipidus, neurohypophyseal (NDI)
VAR_004983 Diabetes insipidus, neurohypophyseal (NDI)
VAR_004984 Diabetes insipidus, neurohypophyseal (NDI)

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

Variation tolerance for AVP Gene

Gene Damage Index Score: 1.26; 25.15% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for AVP Gene

HapMap Linkage Disequilibrium report
AVP
Human Gene Mutation Database (HGMD)
AVP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AVP Gene

Disorders for AVP Gene

MalaCards: The human disease database

(55) MalaCards diseases for AVP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
diabetes insipidus, neurohypophyseal
  • neurohypophyseal diabetes insipidus
hereditary central diabetes insipidus
  • hereditary cdi
diabetes insipidus
syndrome of inappropriate antidiuretic hormone
  • inappropriate adh syndrome
inappropriate adh syndrome
  • syndrome of inappropriate antidiuretic hormone secretion
- elite association - COSMIC cancer census association via MalaCards
Search AVP in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for AVP

Genetic Association Database (GAD)
AVP
Human Genome Epidemiology (HuGE) Navigator
AVP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AVP
genes like me logo Genes that share disorders with AVP: view

No data available for Genatlas for AVP Gene

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 48 67
  2. A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. (PMID: 1840604) Ito M. … Saito H. (J. Clin. Invest. 1991) 2 3 23
  3. Copeptin, a surrogate marker of vasopressin, is associated with microalbuminuria in a large population cohort. (PMID: 19847155) Meijer E. … Gansevoort R.T. (Kidney Int. 2010) 3 23
  4. Autosomal recessive familial neurohypophyseal diabetes insipidus: onset in early infancy. (PMID: 19897608) Abu Libdeh A. … Zangen D.H. (Eur. J. Endocrinol. 2010) 3 23
  5. Plasma copeptin and the risk of diabetes mellitus. (PMID: 20439785) EnhAPrning S. … Melander O. (Circulation 2010) 3 23

Products for AVP Gene

Sources for AVP Gene

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