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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AVP Gene

protein-coding   GIFtS: 64
GCID: GC20M003063

Arginine Vasopressin


(Previous symbol: ARVP)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Arginine Vasopressin1 2     AVP-NPII2 3
ARVP1 2 3     AVRP2 5
VP2 3 5     Diabetes Insipidus1
Antidiuretic Hormone1 2     Neurophysin II1
neurohypophyseal1 2     ADH2
Prepro-Arginine-Vasopressin-Neurophysin II1 2     Vasopressin-Neurophysin 2-Copeptin2
Prepro-AVP-NP II1 2     Vasopressin-Neurophysin II-Copeptin2

External Ids:    HGNC: 8941   Entrez Gene: 5512   Ensembl: ENSG000001012007   OMIM: 1923405   UniProtKB: P011853   
ORGUL members:         
NONCODE14:n333442      

Export aliases for AVP gene to outside databases

Previous GC identifers: GC20M003051 GC20M003011 GC20M003058


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and is affiliated with the lncRNA class. Diseases associated with AVP include neurohypophyseal diabetes insipidus, and petrositis, and among its related super-pathways are Signaling by GPCR and GPCR ligand binding. GO annotations related to this gene include protein kinase activity and receptor binding. An important paralog of this gene is OXT.

UniProtKB/Swiss-Prot: NEU2_HUMAN, P01185
Function: Neurophysin 2 specifically binds vasopressin
Function: Vasopressin has a direct antidiuretic action on the kidney, it also causes vasoconstriction of the
peripheral vessels

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 (Vasopressin) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.2  NT_011387.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the AVP gene promoter:
         NRSF form 1   Egr-1   NRSF form 2   Tal-1beta   E47   S8   PPAR-gamma1   c-Myb   PPAR-gamma2   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidAVP promoter sequence
   Search SABiosciences Chromatin IP Primers for AVP

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat AVP


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p13   Ensembl cytogenetic band:  20p13   HGNC cytogenetic band: 20p13

AVP Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AVP gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M003063:  view genomic region     (about GC identifiers)

Start:
3,063,202 bp from pter      End:
3,065,370 bp from pter
Size:
2,169 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NEU2_HUMAN, P01185 (See protein sequence)
Recommended Name: Vasopressin-neurophysin 2-copeptin precursor  
Size: 164 amino acids; 17325 Da
Subcellular location: Secreted
Secondary accessions: A0AV35 O14935

Explore the universe of human proteins at neXtProt for AVP: NX_P01185

Explore proteomics data for AVP at MOPED 

AVP Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

AVP Protein Expression

REFSEQ proteins: NP_000481.2  
ENSEMBL proteins: 
 ENSP00000369647  
Reactome Protein details: P01185
Human Recombinant Protein Products for AVP: 
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OriGene Purified Protein for AVP
OriGene Protein Over-expression Lysate for AVP
OriGene MassSpec for AVP 
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GenScript Custom Purified and Recombinant Proteins Services for AVP
Novus Biologicals AVP Lysate
Browse Sino Biological Recombinant Proteins
Browse Sino Biological Cell Lysates 
ProSpec Recombinant Protein for AVP
Browse Proteins at Cloud-Clone Corp. 

Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region TAS--
GO:0005615extracellular space IEA--
GO:0005829cytosol TAS--
GO:0030141secretory granule IEA--
GO:0030425dendrite IEA--

AVP for ontologies           About GeneDecksing



AVP Antibody Products: 
EMD Millipore Mono- and Polyclonal Antibodies for the study of AVP
R&D Systems Antibodies for AVP (Copeptin, Neurophysin II)
Browse OriGene Antibodies
OriGene Custom Antibody Services for AVP
GenScript Custom Superior Antibodies Services for AVP
Novus Biologicals AVP Antibody
Abcam antibodies for AVP
Browse Antibodies at Cloud-Clone Corp. 
ThermoFisher Antibodies for AVP
LSBio Antibodies in human, mouse, rat for AVP 

Assay Products for AVP: 
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OriGene Custom Assay Services for AVP
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for AVP
Enzo Life Sciences assays for AVP
Browse ELISAs at Cloud-Clone Corp. 
Browse CLIAs at Cloud-Clone Corp.


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
ENDOLIG: Endogenous ligands

2 InterPro protein domains:
 IPR000981 Neurhyp_horm
 IPR022423 Neurohypophysial_hormone_CS

Graphical View of Domain Structure for InterPro Entry P01185

ProtoNet protein and cluster: P01185

1 Blocks protein domain: IPB000981 Neurohypophysial hormone

UniProtKB/Swiss-Prot: NEU2_HUMAN, P01185
Similarity: Belongs to the vasopressin/oxytocin family


AVP for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: NEU2_HUMAN, P01185
Function: Neurophysin 2 specifically binds vasopressin
Function: Vasopressin has a direct antidiuretic action on the kidney, it also causes vasoconstriction of the
peripheral vessels

     Genatlas biochemistry entry for AVP:
arginine vasopressin (neurophysin II,copeptide precursor)

     Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004672protein kinase activity IDA18402937
GO:0004871signal transducer activity IDA18402937
GO:0005102receptor binding TAS1740104
GO:0005184neuropeptide hormone activity TAS1740104
GO:0005185neurohypophyseal hormone activity IEA--
     
AVP for ontologies           About GeneDecksing


Phenotypes:
     6 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Avp):
 behavior/neurological  homeostasis/metabolism  mortality/aging  nervous system  normal 
 renal/urinary system 

AVP for phenotypes           About GeneDecksing

Animal Models:
   inGenious Targeting Laboratory - Custom generated mouse model solutions for AVP 
   inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for AVP

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for AVP 
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for AVP 

miRNA
Products:
    
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat AVP
Search QIAGEN for miScript miRNA Assays for microRNAs that regulate AVP
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
    
Browse for Gene Knock-down Tools from EMD Millipore
OriGene RNAi products in human, mouse, rat for AVP
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AVP

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for AVP
Sirion Biotech Customized adenovirus for overexpression of AVP

Clone
Products:
     
Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
OriGene clones in human, mouse for AVP (see all 6)
OriGene ORF clones in mouse, rat for AVP
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: AVP (NM_000490)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for AVP
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AVP
Sirion Biotech Customized lentivirus for stable overexpression of AVP 
                     Customized lentivirus expression plasmids for stable overexpression of AVP 

Cell Line
Products:
     
GenScript Custom overexpressing Cell Line Services for AVP
Search LifeMap BioReagents cell lines for AVP
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AVP


(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for AVP About   (see all 12)                                                                                              See pathways by source

SuperPathContained pathways About
1Signaling by GPCR
Signaling by GPCR0.90
Signal Transduction0.55
GPCR downstream signaling0.90
2Class A/1 (Rhodopsin-like receptors)
Class A/1 (Rhodopsin-like receptors)0.71
Peptide ligand-binding receptors0.60
GPCR ligand binding0.71
3G alpha (q) signalling events
Gastrin-CREB signalling pathway via PKC and MAPK0.90
G alpha (q) signalling events0.90
4Regulation of Water Balance by Renal Aquaporins
Regulation of Water Balance by Renal Aquaporins0.84
Aquaporin-mediated transport0.84
5SLC-mediated transmembrane transport
SLC-mediated transmembrane transport0.50
Transmembrane transport of small molecules0.50

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 EMD Millipore Pathway for AVP
    Selected targets of CREB1


1 BioSystems Pathway for AVP
    SIDS Susceptibility Pathways

5/18        Reactome Pathways for AVP (see all 18)
    Transmembrane transport of small molecules
SLC-mediated transmembrane transport
Signal Transduction
G alpha (q) signalling events
BMAL1:CLOCK/NPAS2 Activates Circadian Expression


1         Kegg Pathway  (Kegg details for AVP):
    Vasopressin-regulated water reabsorption


AVP for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for AVP

STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

5/9 Interacting proteins for AVP (P011853 ENSP000003696474) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
InteractantInteraction Details
GeneCardExternal ID(s)
TXNDC17Q9BRA23, ENSP000002501014I2D: score=2 STRING: ENSP00000250101
AVPR1BP479013, ENSP000003560944I2D: score=1 STRING: ENSP00000356094
AVPR1AP372883, ENSP000002991784I2D: score=1 STRING: ENSP00000299178
AVPR2P305183, ENSP000003380724I2D: score=1 STRING: ENSP00000338072
OXTRP305593, ENSP000003242704I2D: score=1 STRING: ENSP00000324270
About this table

Gene Ontology (GO): 5/39 biological process terms (GO ID links to tree view) (see all 39):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0002125maternal aggressive behavior IEA--
GO:0003084positive regulation of systemic arterial blood pressure IEA--
GO:0006091generation of precursor metabolites and energy TAS1740104
GO:0006468protein phosphorylation IDA18402937
GO:0006833water transport TAS--

AVP for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

AVP for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Enzo Life Sciences drugs & compounds for AVP

Compounds for AVP available from Tocris Bioscience    About this table
CompoundAction CAS #
d[Leu4,Lys8]-VP Selective V1B agonist[42061-33-6]
[Arg8]-VasopressinAntidiuretic hormone[113-79-1]
SR 49059 Selective, orally active vasopressin V1A receptor antagonist [150375-75-0]
DesmopressinSynthetic vasopressin analog; V1B and V2 agonist[16679-58-6]
(d(CH2)51,Tyr(Me)2,Arg8)-Vasopressin Selective vasopressin V1A antagonist[73168-24-8]

10/31 Novoseek inferred chemical compound relationships for AVP gene (see all 31)    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
arginine 79.4 106 8045958 (3), 11748489 (3), 9467595 (3), 16913350 (3) (see all 61)
desmopressin 58.6 11 8940142 (3), 8039334 (2), 17941907 (1)
acth 48.8 20 8090286 (3), 8621793 (3), 12466375 (2), 9627097 (2) (see all 10)
sodium 36.7 15 2147645 (2), 9666340 (2), 2276581 (1), 14695699 (1) (see all 9)
phenylalanine 18.2 7 12359138 (2), 9022681 (1), 12931042 (1), 16682840 (1)
guanine 16.1 3 20520956 (2), 10827849 (1)
cysteine 12.5 7 12359138 (2), 11150885 (1), 8461298 (1), 10827849 (1) (see all 5)
abscisic acid 11.1 9 8787023 (2), 8672884 (2)
thymine 9.38 1 10827849 (1)
creatinine 4.78 2 20447532 (1), 9666340 (1)

Search CenterWatch for drugs/clinical trials and news about AVP / NEU2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for AVP gene: 
NM_000490.4  

Unigene Cluster for AVP:

Arginine vasopressin
Hs.89648  [show with all ESTs]
Unigene Representative Sequence: AF031475
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000380293(uc002whu.3)

miRNA
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Inhib. RNA
Products:
     
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OriGene RNAi products in human, mouse, rat for AVP
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AVP
Clone
Products:
     
OriGene clones in human, mouse for AVP (see all 6)
OriGene ORF clones in mouse, rat for AVP
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: AVP (NM_000490)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for AVP
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat AVP
Sirion Biotech Customized lentivirus for stable overexpression of AVP 
                     Customized lentivirus expression plasmids for stable overexpression of AVP 
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for AVP
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AVP
  QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AVP
  QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AVP

Additional mRNA sequence: 

AF031475.1 AF031476.1 BC018062.1 BC126196.1 BC126224.1 M25647.1 X03172.1 

1 DOTS entry:

DT.308297 

9 AceView cDNA sequences:

AI478178 NM_000490 BC018062 BV204441 AF031475 AF031476 X03172 BG715518 
M25647 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

AVP expression in normal human tissues (normalized intensities)      AVP embryonic expression: see
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
AVP Expression
About this image


AVP expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database 
 5/16 selected tissues (see all 16) fully expand
 
 Brain (Nervous System)    fully expand to see all 9 entries
         Mature Choroid Plexus Cells Choroid Plexus
         Thalamus
         Olfactory Bulb   
 
 Neural Tube (Nervous System)    fully expand to see all 2 entries
         Telencephalon
 
 Mesoderm (Gastrulation Derivatives)
         skeleton/axial skeleton   
 
 Lower Urinary Tract (Urinary System)
         visceral organ   
 
 Cartilage (Muscoskeletal System)
         skeleton/cranium   

See AVP Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for AVP

SOURCE GeneReport for Unigene cluster: Hs.89648
    SABiosciences Expression via Pathway-Focused PCR Arrays including AVP: 
          Hypertension in human mouse rat
          GABA & Glutamate in human mouse rat
          Osmotic Stress in human mouse rat

Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for AVP
SABiosciences RT2 qPCR Primer Assay in human, mouse, rat AVP
QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat AVP
QIAGEN QuantiFast Probe-based Assays in human, mouse, rat AVP
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AVP

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for AVP gene from 4/11 species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Avp1 , 5 arginine vasopressin1, 5 84.96(n)1
81.71(a)1
  2 (63.24 cM)5
119981  NM_009732.11  NP_033862.11 
 1305806205 
chicken
(Gallus gallus)
Aves AVP1 arginine vasopressin (neurophysin II, antidiuretic more 68.67(n)
61.33(a)
  396101  NM_205185.2  NP_990516.1 
tropical clawed frog
(Xenopus tropicalis)
Amphibia 1419962402   -- 74.44(n)    141996240 
zebrafish
(Danio rerio)
Actinopterygii vsnp2 vasotocin neurophysin 72.98(n)   352922  AY168623.1 


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

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for AVP gene
OXT2  
1 SIMAP similar gene for AVP using alignment to 3 protein entries:     NEU2_HUMAN (see all proteins):
OXT

AVP for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/142 SNPs in AVP are shown (see all 142)    About this table     
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 20 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
VAR_0049834
Diabetes insipidus, neurohypophyseal (NDI)4--see VAR_0049832 G R mis40--------
VAR_0192764
Diabetes insipidus, neurohypophyseal (NDI)4--see VAR_0192762 C W mis40--------
VAR_0299984
Diabetes insipidus, neurohypophyseal (NDI)4--see VAR_0299982 C S mis40--------
VAR_0049844
Diabetes insipidus, neurohypophyseal (NDI)4--see VAR_0049842 G V mis40--------
VAR_0152694
Diabetes insipidus, neurohypophyseal (NDI)4--see VAR_0152692 S F mis40--------
VAR_0152674
Diabetes insipidus, neurohypophyseal (NDI)4--see VAR_0152672 C R mis40--------
VAR_0049864
Diabetes insipidus, neurohypophyseal (NDI)4--see VAR_0049862 P L mis40--------
VAR_0152704
Diabetes insipidus, neurohypophyseal (NDI)4--see VAR_0152702 C Y mis40--------
VAR_0152634
Diabetes insipidus, neurohypophyseal (NDI)4--see VAR_0152632 P L mis40--------
VAR_0152654
Diabetes insipidus, neurohypophyseal (NDI)4--see VAR_0152652 G R mis40--------

HapMap Linkage Disequilibrium report for AVP (3063202 - 3065370 bp)

Structural Variations
     Database of Genomic Variants (DGV) 2 variations for AVP:    About this table     
Variant IDTypeSubtypePubMed ID
nsv833897CNV Loss17160897
nsv912603CNV Gain21882294


Human Gene Mutation Database (HGMD): AVP

Locus Specific Mutation Databases (LSDB): AVP
SABiosciences Cancer Mutation PCR Assays
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 192340   
OMIM disorders: 125700  
UniProtKB/Swiss-Prot: NEU2_HUMAN, P01185
  • 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/76 diseases for AVP (see all 76):    About MalaCards
    neurohypophyseal diabetes insipidus    petrositis    fanconi syndrome    neurogenic diabetes insipidus
    syndrome of inappropriate antidiuretic hormone    central pontine myelinolysis    adrenal gland hyperfunction    familial cold autoinflammatory syndrome 1
    diabetes insipidus    nephrogenic syndrome of inappropriate antidiuresis    muckle-wells syndrome    chronic infantile neurological cutaneous articular syndrome
    inappropriate adh syndrome    nephrogenic diabetes insipidus    pituitary apoplexy    myxedema
    endolymphatic hydrops    olfactory neuroblastoma    bartter disease    motion sickness

    17 diseases from the University of Copenhagen DISEASES database for AVP:
    Diabetes insipidus     Inappropriate ADH syndrome     Neurohypophyseal diabetes insipidus     Nephrogenic diabetes insipidus
    Hypertension     Congestive heart failure     Hypopituitarism     Kidney failure
    Bartter disease     Brain disease     Liver cirrhosis     Craniopharyngioma
    Meningitis     Hypothyroidism     Germinoma     Hypoglycemia
    Olfactory neuroblastoma

    AVP for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/26 Novoseek inferred disease relationships for AVP gene (see all 26)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    central diabetes insipidus 94.5 54 7714110 (3), 11150885 (2), 1840604 (2), 8706292 (2) (see all 36)
    hyponatremia 62.4 18 9100572 (2), 2153841 (2), 18984663 (2), 10614173 (2) (see all 10)
    siadh 61.2 9 9100572 (2), 1656520 (2), 16797399 (1), 10614173 (1)
    diabetes insipidus nephrogenic 57.6 3 17941907 (1), 7541187 (1), 16093448 (1)
    carcinoma oat cell 54.9 3 1966564 (2)
    hyperosmolality 54.4 1 1656520 (1)
    critically ill 33.6 8 16940457 (3), 16269513 (2), 16913350 (1), 17635944 (1) (see all 5)
    sepsis 32.1 18 17515850 (2), 16269513 (2), 18252006 (2), 16940457 (2) (see all 10)
    panhypopituitarism 31.9 1 10596369 (1)
    shock septic 30.6 8 17515850 (3), 19325368 (1), 15922490 (1), 19114902 (1) (see all 6)

    Genetic Association Database (GAD): AVP
    Human Genome Epidemiology (HuGE) Navigator: AVP (82 documents)

    Export disorders for AVP gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for AVP gene, integrated from 9 sources (see all 322):
    (articles sorted by number of sources associating them with AVP)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 8045958)1, 2, 4, 9 Repaske D.R. and Browning J.E. (1994)
    2. Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant. (PubMed id 9814475)1, 2, 4 Grant F.D.... Majzoub J.A. (1998)
    3. A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus. (PubMed id 12359138)1, 2, 9 Santiprabhob J.... Repaske D.R. (2002)
    4. Identification of a novel mutation in the arginine vasopressin- neurophysin II gene affecting the sixth intrachain disulfide bridge of the neurophysin II moiety. (PubMed id 15538939)1, 2, 9 Baglioni S.... Peri A. (2004)
    5. Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus. (PubMed id 7714110)1, 2, 9 Nagasaki H.... Oiso Y. (1995)
    6. A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus. (PubMed id 11748489)1, 2, 9 Mundschenk J.... Lehnert H. (2001)
    7. A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes. (PubMed id 11150885)1, 2, 9 Skordis N.... Phillips J.A. III (2000)
    8. A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. (PubMed id 1840604)1, 3, 9 Ito M.... Saito H. (1991)
    9. Progressive decline of vasopressin secretion in familial autosomal dominant neurohypophyseal diabetes insipidus presenting a novel mutation in the vasopressin-neurophysin II gene. (PubMed id 14510916)1, 2, 9 Elias P.C.L.... Castro M. (2003)
    10. A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus. (PubMed id 11161827)1, 2, 9 DiMeglio L.A....Repaske D.R. (2001)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 551 HGNC: 894 AceView: AVP Ensembl:ENSG00000101200 euGenes: HUgn551
    ECgene: AVP Kegg: 551 H-InvDB: AVP

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for AVP Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AVP
    Wikipedia http://en.wikipedia.org/wiki/Vasopressin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for AVP gene:
    Search GeneIP for patents involving AVP

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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