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AVP Gene(Protein Coding)

Arginine Vasopressin

GCID:
GC20M003082
GIFtS:
52
Genes Participants
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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 Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways and BMAL1-CLOCK,NPAS2 activates circadian gene expression. Gene Ontology (GO) annotations related to this gene include protein kinase activity and obsolete 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. Acts by binding to vasopressin receptors (V1bR/AVPR1B, V1aR/AVPR1A, and V2R/AVPR2) (PubMed:18174156).

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

Additional gene information 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

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for AVP Gene

Promoters and enhancers for AVP Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH20J003082 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 650.4 +9.7 9738 3.3 TFAP4 SUZ12 TAL1 ZIC2 ZNF48 TCF12 SCRT2 CBFA2T2 NR2F6 EZH2 AVP LOC101929098
GH20J003092 Enhancer 0.9 FANTOM5 Ensembl ENCODE 650.7 -0.1 -140 2.5 POLR2A BHLHE40 SIN3A NR2F2 AVP RN7SL555P SNRPB PCED1A UBOX5 FASTKD5 PTPRA
GH20J003172 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 4.1 -80.8 -80751 3.3 PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 LZTS3 GC20P003173 ITPA ENSG00000229539 DDRGK1 ZNF343 VPS16 NOP56 UBOX5-AS1 SNRPB
GH20J004076 Enhancer 1 Ensembl ENCODE dbSUPER 5.6 -983.3 -983252 1 MEIS2 JUN CEBPB EP300 JUND POLR2A STAT3 FOS RCOR1 ENSG00000205300 AVP SMOX
GH20J003413 Enhancer 0.7 FANTOM5 3.2 -320.2 -320232 0.4 RXRA SAP130 NR2F1 ARID4B MAX ZNF384 RARA NFIL3 SP1 SMAD4 ENSG00000225116 ATRN RNU6-1019P UBE2V1P1 AVP OXT LOC105372509 LOC105372508
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AVP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the AVP gene promoter:
  • S8
  • c-Myb
  • Egr-1
  • PPAR-gamma2
  • PPAR-gamma1
  • E47
  • Tal-1beta
  • NRSF form 1
  • NRSF form 2
  • Pax-4a

Genomic Locations for AVP Gene

Genomic Locations for AVP Gene
chr20:3,082,555-3,093,521
(GRCh38/hg38)
Size:
10,967 bases
Orientation:
Minus strand
chr20:3,063,202-3,065,370
(GRCh37/hg19)
Size:
2,169 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 Structure • Gene Density

RefSeq DNA sequence for AVP Gene

Proteins for AVP Gene

Products:

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  2. Protein
  3. Assay

  • 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:
    • Interacts with vasopressin receptors V1bR/AVPR1B (Ki=85 pM), V1aR/AVPR1A (Ki=0.6 nM) and V2R/AVPR2 (Ki=4.9 nM) (PubMed:18174156). Interacts with oxytocin receptor (OXTR) (Ki=110 nM) (PubMed:18174156).

neXtProt entry for AVP Gene

Protein Expression for AVP Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for AVP Gene

  • Glycosylation at posLast=131131
  • Modification sites at PhosphoSitePlus

Other Protein References for AVP Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for AVP Gene

Domains & Families for AVP Gene

Gene Families for AVP Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted secreted proteins

Protein Domains for AVP Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for AVP Gene

GenScript: Design optimal peptide antigens:

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

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for AVP Gene

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. Acts by binding to vasopressin receptors (V1bR/AVPR1B, V1aR/AVPR1A, and V2R/AVPR2) (PubMed:18174156).
GENATLAS Biochemistry:
arginine vasopressin (neurophysin II,copeptide precursor)

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 obsolete signal transducer activity IDA --
GO:0005102 signaling receptor binding TAS 1740104
GO:0005179 hormone activity IEA --
GO:0005184 neuropeptide hormone activity IEA,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 Avp<tm1b(EUCOMM)Wtsi>
  • Avp Avp<tm1Chron>

Animal Model Products

miRNA for AVP Gene

miRTarBase miRNAs that target AVP

Clone Products

  • Addgene plasmids for AVP

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for AVP Gene

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

Products:

  1. Drug

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Norepinephrine Approved Pharma 737
Desmopressin Approved Pharma Full agonist, Agonist Hemostatic and anti-diuretic, Synthetic vasopressin analog; V1B and V2 agonist 0
Angiotensin II Approved, Investigational Pharma Full agonist, Agonist Potent vasopressor and a powerful stimulus for production and release of aldosterone from the adrenal cortex. 1217
2-Butanol Experimental, Investigational Pharma Target 0
2'-Monophosphoadenosine 5'-Diphosphoribose Experimental Pharma Target 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
[Arg8]-Vasopressin
113-79-1
[Lys8]-Vasopressin
50-57-7

(5) Tocris Compounds for AVP Gene

Compound Action Cas Number
[Arg8]-Vasopressin Antidiuretic hormone 113-79-1
[Lys8]-Vasopressin Antidiuretic hormone 50-57-7
d[Cha4]-AVP Potent and selective human V1B agonist 500170-27-4
d[Leu4,Lys8]-VP Selective V1B agonist 42061-33-6
Desmopressin Synthetic vasopressin analog; V1B and V2 agonist 16679-58-6
genes like me logo Genes that share compounds with AVP: view

Drug Products

Transcripts for AVP Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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:

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

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for AVP Gene

mRNA expression in normal human tissues for AVP Gene
mRNA expression by GTEx for AVP GenemRNA expression by BioGPS 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 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
Regions:
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

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 33
  • 97.36 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia AVP 34 33
  • 92.17 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia AVP 34 33
  • 91.67 (n)
 OneToOne
mouse
(Mus musculus)
 Mammalia Avp 16 34 33
  • 84.96 (n)
rat
(Rattus norvegicus)
 Mammalia Avp 33
  • 83.54 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 69 (a)
 ManyToMany
-- 34
  • 66 (a)
 ManyToMany
-- 34
  • 57 (a)
 ManyToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 68 (a)
 ManyToMany
-- 34
  • 62 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves AVP 33
  • 68.67 (n)
MST 34
  • 59 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia avp 33
  • 63.58 (n)
zebrafish
(Danio rerio)
 Actinopterygii oxt 34 33
  • 58.68 (n)
 OneToMany
vsnp 33
rainbow trout
(Oncorhynchus mykiss)
 Actinopterygii Omy.8741 33
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)
Aminode:
Evolutionary constrained regions (ECRs) for AVP: view image

Paralogs for AVP Gene

Paralogs for AVP Gene

(1) SIMAP similar genes for AVP Gene using alignment to 4 proteins:

  • NEU2_HUMAN
  • Q9HB76_HUMAN
  • Q9UMM9_HUMAN
  • S6BQ34_HUMAN
genes like me logo Genes that share paralogs with AVP: view

Variants for AVP Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for AVP Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1057516192 likely-pathogenic, Neurohypophyseal diabetes insipidus 3,083,168(-) C/A coding_sequence_variant, missense_variant
rs121964882 pathogenic, Neurohypophyseal diabetes insipidus, Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] 3,083,037(-) C/T coding_sequence_variant, missense_variant
rs121964883 pathogenic, Neurohypophyseal diabetes insipidus, Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] 3,083,156(-) C/A coding_sequence_variant, missense_variant
rs121964884 pathogenic, Neurohypophyseal diabetes insipidus 3,083,005(-) G/A/T coding_sequence_variant, stop_gained, synonymous_variant
rs121964885 pathogenic, Neurohypophyseal diabetes insipidus, Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] 3,083,022(-) C/A coding_sequence_variant, missense_variant

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)

Additional Variant Information for AVP Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

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

UniProtKB/Swiss-Prot

NEU2_HUMAN
  • Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700]: A disease characterized by persistent thirst, polydipsia and polyuria. Affected individuals are apparently normal at birth, but characteristically develop symptoms of vasopressin deficiency during childhood. {ECO:0000269 PubMed:10369876, ECO:0000269 PubMed:10487710, ECO:0000269 PubMed:10677561, ECO:0000269 PubMed:11017955, ECO:0000269 PubMed:11150885, ECO:0000269 PubMed:11161827, ECO:0000269 PubMed:11443218, ECO:0000269 PubMed:11748489, ECO:0000269 PubMed:11980620, ECO:0000269 PubMed:12012274, ECO:0000269 PubMed:12107248, ECO:0000269 PubMed:12359138, ECO:0000269 PubMed:12519420, ECO:0000269 PubMed:12931042, ECO:0000269 PubMed:14510916, ECO:0000269 PubMed:14673472, ECO:0000269 PubMed:15538939, ECO:0000269 PubMed:1740104, ECO:0000269 PubMed:7714110, ECO:0000269 PubMed:8045958, ECO:0000269 PubMed:8103767, ECO:0000269 PubMed:8370682, ECO:0000269 PubMed:8514868, ECO:0000269 PubMed:8554046, ECO:0000269 PubMed:9360520, ECO:0000269 PubMed:9580132, ECO:0000269 PubMed:9814475}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for AVP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 DR … Browning JE (The Journal of clinical endocrinology and metabolism 1994) 3 4 22 44 58
  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 (European journal of endocrinology 2004) 3 4 22 58
  3. A signal peptide mutation of the arginine vasopressin gene in monozygotic twins. (PMID: 12519420) Boson WL … Wajchenberg B (Clinical endocrinology 2003) 3 4 22 58
  4. A new missense mutation of the vasopressin-neurophysin II gene in a family with neurohypophyseal diabetes insipidus. (PMID: 12931042) Wolf MT … Rascher W (Hormone research 2003) 3 4 22 58
  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 PC … Castro M (Clinical endocrinology 2003) 3 4 22 58

Products for AVP Gene

  • Addgene plasmids for AVP

Sources for AVP Gene

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