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Aliases & Descriptions for AVP
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| Aliases |
|---|
| ADH 1, 2 | | ARVP 2, 3 | | AVP-NPII 2, 3 | | AVRP 2, 5 | | OTTHUMP00000030089 2 | | VP 2, 3, 5 | | neurohypophyseal 2 |
| | | Descriptions |
|---|
| antidiuretic hormone 2 | | arginine vasopressin 2 | | arginine vasopressin-neurophysin II 2 | | vasopressin-neurophysin II-copeptin 2 |
|
| | Search outside databases for aliases for AVP genePrevious GC identifers: GC20M003051 GC20M003058 |
Summaries for AVP(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| EntrezGene summary for AVP: This gene encodes a precursor protein consisting of arginine vasopressin and two associated proteins, neurophysin II 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 II, 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] UniProtKB/Swiss-Prot: NEU2_HUMAN, P01185Function: Vasopressin has a direct antidiuretic action on the kidney, it also causes vasoconstriction of the peripheral vesselsGene Wiki entry for AVP (Vasopressin) |
Genomic Location for AVP
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to
UCSC and
Ensembl,
Transcription factor binding sites according to
SABiosciences) About This Section
| Genomic View: UCSC Golden Path with GeneCards custom track
Transcription factor binding sites upstream to the AVP gene 
Entrez Gene cytogenetic band: 20p13 Ensembl cytogenetic band: 20p13 HGNC cytogenetic band: 20p13AVP Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)
 GeneLoc gene densities for chromosome 20 GeneLoc Exon Structure GeneLoc location for GC20M003011:
(about GC identifiers)
Start:
|
3,011,188 bp from pter |
End:
|
3,013,370 bp from pter |
Size:
|
2,183 bases |
Orientation:
|
minus strand |
RefSeq DNA sequence:- NC_000020.9 NT_011387.8
| Proteins for AVP
(According to
1UniProtKB,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Enzo Life Sciences,
Abnova,
OriGene and/or,
Abcam,
Biochemical Assays by
Invitrogen,
Millipore,
R&D Systems,
Cell Signaling Technology, and/or
Enzo Life Sciences,
Ontologies according to Gene
Ontology Consortium 01 Apr 2009 and
Entrez Gene,
Antibodies by Invitrogen,
Millipore,
Sigma-Aldrich,
R&D Systems,
Cell Signaling Technology,
Abcam,
Abnova, and/or
Novus Biologicals)
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 O14935REFSEQ proteins: NP_000481.2
ENSEMBL proteins: ENSP00000369647 ENSP00000382771
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
2 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for AVP: Assays for AVP: | Protein
Domains/ Families for AVP(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - 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, P01185Similarity: Belongs to the vasopressin/oxytocin family | Gene Function for AVP
(According to MGI Jun 06 2009, UniProtKB,
IUBMB,and/or Genatlas,
shRNA from
OriGene,
Sigma-Aldrich, RNAi from
Sigma-Aldrich,
RNAi Products,
Clones, and
Q-PCR Products
from Invitrogen,
Millipore,
OriGene, and/or
Abnova,
siRNAs from
Applied Biosystems,
SYBR primers from OriGene,
Cell-based Assays from Millipore,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000490
Applied Biosystems Silencer® siRNAs for AVP
Sigma-Aldrich siRNA and siRNA Panels for AVP  Sigma-Aldrich shRNA for AVP  Explore Sigma-Aldrich super-pooled esiRNAs 
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_000490                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000490                                  untagged cDNA clone in CMV expression vector: NM_000490 
Primers: Browse
Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers               OriGene genome-wide validated SYBR primer pairs: NM_000490
UniProtKB/Swiss-Prot: NEU2_HUMAN, P01185Function: Neurophysin 2 specifically binds vasopressinFunction: Vasopressin has a direct antidiuretic action on the kidney, it also causes vasoconstriction of the peripheral vesselsGenatlas biochemistry entry for AVP:arginine vasopressin (neurophysin II,copeptide precursor)7 MGI mutant phenotypes (inferred from 3 alleles ) (MGI details for Avp):
1 Gene Ontology (GO) molecular function term (links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005185 | neurohypophyseal hormone activity |
IEA | -- | About this table | Pathways & Interactions for AVP
(Pathways according to Invitrogen
(maps by GeneGo),
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Proteins Network according to
SABiosciences,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2009 via
Entrez Gene.)
About This Section
|
1 Sigma-Aldrich "Your Favorite Gene" Pathway for AVP (Your Favorite Gene powered by Ingenuity) 
Gene Network CentralTM Interacting Genes and Proteins Network for AVP 
5/67 Interacting proteins for AVP (ENSP000003696473) via UniProtKB, MINT, and/or STRING (see all 67
)About this table
5 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for AVP(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
Compounds for AVP available from Tocris Bioscience About this table
10/19 Novoseek chemical compound relationships for AVP gene (see all 19
)
| Compound |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| acth |
46.91 |
20 |
8090286 (3), 8621793 (3), 12466375 (2), 9627097 (2) (see all 10) |
| sodium |
35.67 |
14 |
2147645 (2), 9666340 (2), 2276581 (1), 14695699 (1) (see all 8) |
| phenylalanine |
20.36 |
7 |
12359138 (2), 9022681 (1), 12931042 (1), 16682840 (1) |
| abscisic acid |
14.79 |
9 |
8787023 (2), 8672884 (2) |
| thymine |
11.82 |
1 |
10827849 (1) |
| ethanol |
4.51 |
4 |
1468643 (1), 15554233 (1), 2264624 (1) |
| uric acid |
4.47 |
1 |
8738818 (1) |
| tyrosine |
1.83 |
8 |
16682840 (2), 11150885 (1), 11739373 (1), 17595538 (1) (see all 6) |
| catecholamine |
0.91 |
1 |
7770002 (1) |
| melatonin |
0.00 |
1 |
16837102 (1) |
About this table
|
Transcripts for AVP(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 219 Homo sapiens; Jun 2 2009) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from Invitrogen,
Millipore, and/or
Abnova,
siRNAs from Applied Biosystems,
Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
Tagged/untagged cDNA clones from
OriGene, Expression Assays from Applied Biosystems) About This Section
|               OriGene 29mer shRNA kit in GFP-retroviral vector: NM_000490
Sigma-Aldrich siRNA and siRNA Panels for AVP  Sigma-Aldrich shRNA for AVP  Explore Sigma-Aldrich super-pooled esiRNAs 
Applied Biosystems Silencer® siRNAs: NM_000490 REFSEQ mRNAs for AVP gene: NM_000490.4
Applied Biosystems TaqMan ® Gene Expression Assays: NM_000490               OriGene GFP tagged cDNA clone in CMV expression vector: NM_000490                                  Myc/DDK tagged cDNA clone in CMV expression vector: NM_000490                                  untagged cDNA clone in CMV expression vector: NM_000490  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 AF031475 BC018062 BV204441 BG715518 AF031476 X03172 M25647
highest scoring ESTs for AVP:AF031475 AF031476 BC018062 BG715518 M25647 X03172 AI478178 BG715231 NM_000490 BC126196 Unigene Cluster for AVP: Arginine vasopressin Hs.89648 [show with all ESTs]Unigene Representative Sequence: AF031475
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations: ENST00000380293
ENST00000399882
|
Expression for AVP
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 219 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Expression Assays from
Applied Biosystems
)
About This Section
| AVP expression in normal and diseased human tissues
Applied Biosystems TaqMan ® Gene Expression Assays for AVP
1 / 2 / 3 3 probe-sets matching AVP gene Data from
(Publications) and GNF BioGPS About these images About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.89648
Expression variation in blood from EXPOLDB for AVP |
Orthologs for AVP
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Jun 06 2009,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for AVP gene from 5/9 species (see all 9
)
About this table Species with no ortholog for AVP
ENSEMBL Gene Tree for AVP | Paralogs for AVP(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| Paralogs for AVP gene
- OXT2
|
SNPs/Variants for AVP(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for AVP (up to first 250kb)
|
Disorders & Mutations for AVP
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
HGMD, GAD,
HuGE Navigator,
BCGD,
and/or TGDB.)
About This Section
|
OMIM: 192340 disorders: 125700 UniProtKB/Swiss-Prot: NEU2_HUMAN, P01185
Defects in AVP are the cause of autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) [MIM:125700]. ADNDI is characterized by persistent thirst, polydipsia and polyuria. The disease is transmitted in an autosomal dominant mode and appears to be largely if not completely penetrant Defects in AVP are the cause of autosomal recessive neurohypophyseal diabetes insipidus (ARNDI) [MIM:125700]. ARNDI is characterized by persistent thirst, polydipsia and polyuria. Most mutations are hypothesized to trigger neurodegeneration via disruption of preproAVP-NPII processing10/24 Novoseek disease relationships for AVP gene (see all 24
)
| Disease |
Score |
Articles |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| central diabetes insipidus |
94.65 |
53 |
7714110 (3), 11150885 (2), 1840604 (2), 8706292 (2) (see all 35) |
| hyponatremia |
64.27 |
18 |
9100572 (2), 2153841 (2), 18984663 (2), 10614173 (2) (see all 10) |
| siadh |
62.94 |
9 |
9100572 (2), 1656520 (2), 16797399 (1), 10614173 (1) |
| diabetes insipidus nephrogenic |
59.40 |
3 |
17941907 (1), 7541187 (1), 16093448 (1) |
| carcinoma oat cell |
56.05 |
3 |
1966564 (2) |
| hyperosmolality |
37.50 |
1 |
1656520 (1) |
| panhypopituitarism |
34.18 |
1 |
10596369 (1) |
| shock septic |
33.08 |
8 |
17515850 (3), 19325368 (1), 15922490 (1), 19114902 (1) (see all 6) |
| critically ill |
30.34 |
8 |
16940457 (3), 16269513 (2), 16913350 (1), 17635944 (1) (see all 5) |
| sepsis |
25.59 |
17 |
17515850 (2), 16269513 (2), 18252006 (2), 16940457 (2) (see all 9) |
About this table
Human Gene Mutation Database: AVP Genetic Association Database: AVP Human Genome Epidemiology Navigator: AVP (41 documents)
|
Medical News for AVP(Possibly Related Articles in
Doctor's Guide)
About This Section
| |
Publications for AVP (in
PubMed.
Associations of this gene to articles via
1Novoseek,
2HGNC,
3Entrez Gene,
4UniProtKB/Swiss-Prot,
5UniProtKB/TrEMBL,
6GAD, and/or
7PharmGKB)
About This Section
| 10/248 PubMed articles for AVP gene (see all 248
):- A missense mutation encoding Cys73Phe in neurophysin II is associated with autosomal dominant neurohypophyseal diabetes insipidus. (PubMed id 12359138)1, 3, 4, 6 Santiprabhob J.... Repaske D.R. (2002)
- 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, 3, 4, 6 Repaske D.R. and Browning J.E. (1994)
- Two novel mutations of the vasopressin gene associated with familial diabetes insipidus and identification of an asymptomatic carrier infant. (PubMed id 9814475)3, 4, 6 Grant F.D.... Majzoub J.A. (1998)
- 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, 3, 4 Baglioni S.... Peri A. (2004)
- Two novel mutations in the coding region for neurophysin-II associated with familial central diabetes insipidus. (PubMed id 7714110)1, 3, 4 Nagasaki H.... Oiso Y. (1995)
- A new mutation of the arginine vasopressin-neurophysin II gene in a family with autosomal dominant neurohypophyseal diabetes insipidus. (PubMed id 11748489)1, 3, 4 Mundschenk J.... Lehnert H. (2001)
- A novel arginine vasopressin-neurophysin II mutation causes autosomal dominant neurohypophyseal diabetes insipidus and morphologic pituitary changes. (PubMed id 11150885)1, 3, 4 Skordis N.... Phillips J.A. III (2000)
- A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. (PubMed id 1840604)1, 2, 3 Ito M.... Saito H. (1991)
- 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, 3, 4 Elias P.C.L.... Castro M. (2003)
- A missense mutation encoding cys(67) --> gly in neurophysin ii is associated with early onset autosomal dominant neurohypophyseal diabetes insipidus. (PubMed id 11161827)1, 3, 4 DiMeglio L.A....Repaske D.R. (2001)
|
Search for AVP
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing AVP
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing AVP
(According to HUGE)
About This Section
| -- |
Specialized Databases showing AVP(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=AVP | | Wikipedia | http://en.wikipedia.org/wiki/Vasopressin |
|
| | | About This Section
| --
| Services for AVP(Reagents available from Applied Biosystems, Antibodies and assays by Cell
Signaling Technology, Abcam, Novus Biologicals, Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich, Enzo Life Sciences, and/or Tocris Bioscience) About This Section
| 
 Products for AVP:

 | |
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|
 |  |  |
| | | | Tocris compounds for AVP |
|
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| |
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
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