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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
  • Vasopressin-Neurophysin 2-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 Aquaporin-mediated transport and Peptide ligand-binding receptors. 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 CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AVP Gene

Genomics for AVP Gene

Regulatory Elements for AVP Gene

Enhancers for AVP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G004076 1.1 Ensembl ENCODE dbSUPER 5.5 -983.3 -983253 1.0 JUN HLF CEBPB EP300 ZNF121 JUND PBX2 STAT3 RCOR1 FOS AVP ENSG00000205300 SMOX
GH20G003172 1.4 FANTOM5 ENCODE 4.1 -80.8 -80751 3.3 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 ITPA DDRGK1 ZNF343 LZTS3 AVP OXT PTPRA C20orf194 EBF4 GC20P003173
GH20G003413 0.8 FANTOM5 3.2 -320.2 -320233 0.4 SAP130 NR2F1 ARID4B MAX ZNF384 RARA NR2F2 NCOR1 HNF4A NR2F6 ENSG00000225116 ATRN UBE2V1P1 RNU6-1019P AVP OXT LOC105372509 LOC105372508
GH20G003178 1.2 FANTOM5 2.1 -85.6 -85600 0.3 HDGF PKNOX1 ARNT CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 C20orf194 PTPRA AVP OXT PIR45599 GC20P003173
GH20G003092 1.4 FANTOM5 Ensembl ENCODE 0.7 -0.1 -140 2.5 SUZ12 CEBPG RBBP5 THRB RARA SCRT2 ZNF207 ZNF600 EZH2 GATAD2A SNRPB PCED1A UBOX5 FASTKD5 PTPRA RN7SL555P AVP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers 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

Post-translational modifications for AVP Gene

  • Glycosylation at Asn131
  • 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:0004672 protein kinase activity IDA 18402937
GO:0004871 signal transducer activity IDA 18402937
GO:0005102 receptor binding TAS 1740104
GO:0005179 hormone activity IEA --
GO:0005184 neuropeptide hormone activity 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

Clone Products

  • Addgene plasmids for AVP

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for AVP gene
Compartment Confidence
extracellular 5
cytosol 5
plasma membrane 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
lysosome 1
golgi apparatus 1
endosome 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 & 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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Norepinephrine Approved Pharma 699
Tolvaptan Approved Pharma Antagonist AVP V2-receptor antagonist, Potent and selective vasopressin V2 receptor antagonist; renoprotective and orally active 90
arginine Nutra 425
Angiotensin II Pharma Full agonist, Agonist Potent vasopressor and a powerful stimulus for production and release of aldosterone from the adrenal cortex. 1178
Angiotensinogen Pharma 1177

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[Arg8]-Vasopressin
113-79-1

(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
OPC 21268 Orally active vasopressin V1 antagonist 131631-89-5
SR 49059 Selective, orally active vasopressin V1A receptor antagonist 150375-75-0
Tolvaptan Potent and selective vasopressin V2 receptor antagonist; renoprotective and orally active 150683-30-0
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

Clone Products

  • Addgene plasmids for AVP

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for AVP Gene

NURSA nuclear receptor signaling pathways regulating expression of AVP Gene:

AVP

SOURCE GeneReport for Unigene cluster for AVP Gene:

Hs.89648

Evidence on tissue expression from TISSUES for AVP Gene

  • Nervous system(3.9)
  • Urine(3.3)
  • Blood(3.2)
  • Kidney(3)
  • Adrenal gland(2.6)
  • Heart(2.5)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for AVP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • ureter
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with AVP: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia AVP 34 35
  • 97.36 (n)
dog
(Canis familiaris)
Mammalia AVP 34 35
  • 92.17 (n)
cow
(Bos Taurus)
Mammalia AVP 34 35
  • 91.67 (n)
mouse
(Mus musculus)
Mammalia Avp 34 16 35
  • 84.96 (n)
rat
(Rattus norvegicus)
Mammalia Avp 34
  • 83.54 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 69 (a)
ManyToMany
-- 35
  • 66 (a)
ManyToMany
-- 35
  • 57 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 68 (a)
ManyToMany
-- 35
  • 62 (a)
ManyToMany
chicken
(Gallus gallus)
Aves AVP 34
  • 68.67 (n)
MST 35
  • 59 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia avp 34
  • 63.58 (n)
zebrafish
(Danio rerio)
Actinopterygii oxt 35 34
  • 58.68 (n)
OneToMany
vsnp 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.8741 34
Species where no ortholog for AVP was found in the sources mined by GeneCards:
  • 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
rs121964882 Pathogenic, Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] 3,083,037(-) AGTCC(A/G)GCCAG reference, missense
rs121964883 Pathogenic, Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] 3,083,156(-) CGGGG(G/T)CAAAG reference, missense
rs121964885 Pathogenic, Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] 3,083,022(-) CGTGC(G/T)GGAGC reference, missense
rs121964886 Pathogenic, Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] 3,083,012(-) CGGGG(G/T)CCGCT reference, missense
rs121964887 Pathogenic, Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] 3,083,138(-) CTTCG(G/T)GCCCA reference, missense

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

Variant ID Type Subtype PubMed ID
nsv585276 CNV gain 21841781
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

Human Gene Mutation Database (HGMD)
AVP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AVP

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

Disorders for AVP Gene

MalaCards: The human disease database

(54) 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
  • dilutional hyponatremia
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 22 46 64
  2. Identification of a novel mutation in the arginine vasopressin- neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety. (PMID: 15538939) Baglioni S. … Peri A. (Eur. J. Endocrinol. 2004) 3 4 22 64
  3. A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus. (PMID: 12931042) Wolf M.T.F. … Rascher W. (Horm. Res. 2003) 3 4 22 64
  4. A signal peptide mutation of the arginine vasopressin gene in monozygotic twins. (PMID: 12519420) Boson W.L. … Wajchenberg B. (Clin. Endocrinol. (Oxf.) 2003) 3 4 22 64
  5. Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene. (PMID: 14510916) Elias P.C.L. … Castro M. (Clin. Endocrinol. (Oxf.) 2003) 3 4 22 64

Products for AVP Gene

  • Addgene plasmids for AVP

Sources for AVP Gene

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