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

AVP Gene

protein-coding   GIFtS: 63
GCID: GC20M003063

arginine vasopressin


(Previous symbol: ARVP)
 Explore 73 diseases affiliated with
AVP via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for AVP    

Aliases
for AVP gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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     AVRP2 5
ARVP1 2 3     Antidiuretic Hormone2
VP2 3 5     Neurohypophyseal1
ADH1 2     Vasopressin-Neurophysin 2-Copeptin2
AVP-NPII2 3     Vasopressin-Neurophysin II-Copeptin2

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

Export aliases for AVP gene to outside databases

Previous GC identifers: GC20M003051 GC20M003011 GC20M003058


Summaries
for AVP gene

(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:
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)

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:
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)


Genomic Views
for AVP 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NC_018931.1  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 plasmid: AVP 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

Proteins
for AVP gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

AVP Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

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

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005576extracellular region TAS--
GO:0005615extracellular space IEA--
GO:0005625soluble fraction ----
GO:0005829cytosol TAS--
GO:0030141secretory granule 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
Search for Antibodies for AVP at Abcam  
Uscn Antibodies for AVP
ThermoFisher Antibodies for AVP

Assay Products for AVP: 
Browse Kits and Assays available from EMD Millipore
OriGene Custom Immunoassay Development
Browse OriGene Fluorogenic Cell Assay Kits
Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for AVP
Enzo Life Sciences assays for AVP
Uscn ELISAs and CLIAs for AVP

Protein Domains /
Families
for AVP gene

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
AVP for domains           About GeneDecksing

2 InterPro domains/families:
 IPR000981 Neurhyp_horm
 IPR022423 Neurohypophysial_hormone_CS

Graphical View of Domain Structure for InterPro Entry P01185

ProtoNet protein and cluster: P01185

1 Blocks protein family: IPB000981 Neurohypophysial hormone

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


Function
for AVP gene

(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section
Function Summary:

     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

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

miRNA
Products:    		Browse 3'-UTR reporter clones for miRNA target validation
Browse MicroRNA Expression Plasmids
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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AVP (see all 7)
OriGene shRNA RFP: AVP
OriGene siRNA: AVP
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AVP

Gene Editing
Products:		DNA2.0 Custom Protein Engineering Service for AVP

Clone
Products:     		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AVP (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, 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 

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

In Situ Assay
Products:   
 		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for AVP

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


Animal Models:
     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


Pathways & Interactions
for AVP gene

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/13 super-pathways (see all 13) About this table 
See pathways by source

Super-pathwaycontained gene-specific pathways
1Class A/1 (Rhodopsin-like receptors)
Class A/1 (Rhodopsin-like receptors)1.00
Peptide ligand-binding receptors0.61
GPCR ligand binding0.75
2Signaling by GPCR
Signaling by GPCR1.00
Signal Transduction0.56
GPCR downstream signaling0.89
3Regulation of Water Balance by Renal Aquaporins
Regulation of Water Balance by Renal Aquaporins1.00
Aquaporin-mediated transport0.84
4Transport of organic anions
Transport of organic anions1.00
Transport of vitamins, nucleosides, and related molecules0.35
5SLC-mediated transmembrane transport
SLC-mediated transmembrane transport1.00
Transmembrane transport of small molecules0.50

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for AVP
    Selected targets of CREB1


1 BioSystems Pathway for AVP 
    SIDS Susceptibility Pathways

5/19        Reactome Pathways for AVP (see all 19)
    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



Drugs & Compounds
for AVP gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 #
[Lys8]-VasopressinAntidiuretic hormone[50-57-7]
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]
d[Cha4]-AVPPotent and selective human V1B agonist[500170-27-4]
10/31 Novoseek 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 

Transcripts
for AVP gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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, 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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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 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for AVP (see all 7)
OriGene shRNA RFP: AVP
OriGene siRNA: AVP
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat AVP
Clone
Products:     		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for AVP (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, 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 
Primer
Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for AVP
Browse OriGene validated miRNA SYBR primer pairs
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 cDNA 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 BV204441 BC018062 AF031475 BG715518 X03172 AF031476 
M25647 

GeneLoc Exon Structure


Expression
for AVP gene

(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)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)
About this image

AVP expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
3 LifeMap In Vivo Development Anatomical Compartments/Cells 
Tissue Anatomical Compartment CellCategory (developmental path)
BrainChoroid PlexusMature Choroid Plexus CellsChoroid Plexus
BrainHypothalamusBrain
Neural TubeTelencephalonNeural Tube
Expression: Positive    Negative     Selective marker
Experimental details: Curated     Microarrays     In-situ hybridization

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 genome-wide validated SYBR primer pairs in human, mouse, rat for AVP
Browse OriGene validated miRNA SYBR primer pairs
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: 
 		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for AVP

Orthologs
for AVP gene

(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 4/13 species (see all 13)    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
for AVP gene

(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



Genomic Variants
for AVP gene

(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

10/84 NCBI SNPs in AVP are shown (see all 84)     About this table
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance		Chr 20 posSequence#AA
Chg		TypeMore#Allele
freq		PopTotal
sample		More
----------
rs743153831,2
Cpathogenic3063425(-) CCGAGG/TGCCGC 2 G C mis10--------
rs289348781,2
Cpathogenic3063745(-) CTTCGC/TGGGCA 2 A V mis1 ese30--------
rs1143746001,2
F,--3062840(+) CTGCAT/GCTCTC 1 -- ds50011Minor allele frequency- G:0.02WA 118
rs1378754731,2
C,--3062903(+) CCTTT-/CCCCTC 1 -- ds50010--------
rs1870503811,2
--3062988(+) TCCCCC/GTCCCC 1 -- ds50010--------
rs18878541,2
C,--3063161(+) CTCCCC/TTTCCC 1 -- ds50019Minor allele frequency- T:0.09NA WA CSA EA 368
rs1930026941,2
C,--3063715(+) TCTCCA/TCCTGG 2 E V mis10--------
rs1446132861,2
--3063986(+) GACCGC/TGGTCA 1 -- int10--------
rs37874821,2
C,F,H,--3064110(+) GGGGAG/ACCCTT 1 -- int113Minor allele frequency- A:0.26EA NA WA CSA 1872
rs753317581,2
F,--3064147(+) GGGCGC/GCACTG 1 -- int11Minor allele frequency- G:0.09WA 118

HapMap Linkage Disequilibrium report for AVP (3063202 - 3065370 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
      Database of Genomic Variants (DGV) variations for AVP: --
Human Gene Mutation Database (HGMD): AVP

Locus Specific Mutation Databases (LSDB): AVP

SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing AVP
DNA2.0 Custom Variant and Variant Library Synthesis for AVP

Disorders / Diseases
for AVP gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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AVP for disorders           About GeneDecksing

OMIM gene information: 192340   
OMIM disorders: 125700  
UniProtKB/Swiss-Prot: NEU2_HUMAN, P01185
  • Defects in AVP are the cause of 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 vasopression deficiency during childhood

    20/73 diseases for AVP (see all 73):    About MalaCards
    neurohypophyseal diabetes insipidus    diabetes insipidus    central pontine myelinolysis    inappropriate adh syndrome
    adrenal gland hyperfunction    churg-strauss syndrome    langerhans-cell histiocytosis    neurogenic diabetes insipidus
    nephrogenic diabetes insipidus    acute intermittent porphyria    endolymphatic hydrops    motion sickness
    pre-eclampsia    pituitary apoplexy    autism spectrum disorder    panhypopituitarism
    chronic obstructive pulmonary disease    petrositis    myocardial infarction    alcohol abuse

    18 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     Liver cirrhosis
    Bartter disease     Brain disease     Craniopharyngioma     Kidney failure
    Hypothyroidism     Meningitis     Germinoma     Hypoglycemia
    Acute intermittent porphyria     Olfactory neuroblastoma

    10/26 Novoseek 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

    Publications
    for AVP gene

    (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)
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    PubMed articles for AVP gene, integrated from 9 sources (see all 313):
    (articles sorted by number of sources associating them with AVP)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus. (PubMed id 12359138)1, 2, 4, 9 Santiprabhob J.... Repaske D.R. (2002)
    2. 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)
    3. 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)
    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)

    External Searches for AVP gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing AVP gene

    (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

    Other Databases showing AVP gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing AVP gene

    (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

    Intellectual Property
    for AVP gene

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

    GeneCards and IP:
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