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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 p... See more...
Aliases for AVP Gene
Aliases for AVP Gene
External Ids for AVP Gene
- HGNC: 894
- Entrez Gene: 551
- Ensembl: ENSG00000101200
- OMIM: 192340
- UniProtKB: P01185
Previous HGNC Symbols for AVP Gene
- ARVP
Previous GeneCards Identifiers for AVP Gene
- GC20M003051
- GC20M003011
- GC20M003058
- GC20M003063
Summaries 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 Signaling by GPCR and Circadian rythm related genes. 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 Summary 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).
-
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).
Additional gene information for AVP Gene
- Monarch Initiative
- Search for AVP at DataMed
- Search for AVP at HumanCyc
No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AVP Gene
Genomics for AVP Gene
GeneHancer (GH) Regulatory Elements for AVP Gene
Promoters and enhancers for AVP Gene
- 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
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AVP
- Top Transcription factor binding sites by QIAGEN in the AVP gene promoter:
-
- c-Myb
- E47
- Egr-1
- NRSF form 1
- NRSF form 2
- Pax-4a
- PPAR-gamma1
- PPAR-gamma2
- S8
- Tal-1beta
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:
-
- 20p13 by HGNC
- 20p13 by Entrez Gene
- 20p13 by Ensembl
AVP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for AVP Gene
Proteins for AVP Gene
-
Protein details for AVP Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P01185-NEU2_HUMAN
- Recommended name:
- Vasopressin-neurophysin 2-copeptin
- Protein Accession:
- P01185
- 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).
Protein Expression for AVP Gene
Post-translational modifications for AVP Gene
Other Protein References for AVP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-AVP monoclonal antibody, clone VAS 2-10-8
-
Custom Antibody ServicesOriGene Antibodies for AVP
- Novus Biologicals Antibodies for AVP
-
Abcam antibodies for AVP
- Invitrogen Antibodies for AVP (AFLGC-AVP)
- antibodies-online: Show 144 available Vasopressin Antibodies ranked by validation data
- Compare Top Vasopressin Antibodies
-
Recommended
- 50 WB Antibodies (anti-human)
- 12 IF (p) Antibodies (anti-human)
- 5 IHC Antibodies (anti-human)
- 4 EIA Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 1 IHC (fro) Antibody (anti-human)
- 7 WB Antibodies (anti-mouse)
- 4 IHC Antibodies (anti-mouse)
- 11 WB Antibodies (anti-rat)
- 5 IHC Antibodies (anti-rat)
- 1 IHC (fro) Antibody (anti-rat)
-
Santa Cruz Biotechnology (SCBT) Antibodies for AVP
Protein Products
- Search Origene for MassSpec and Protein Over-expression Lysates for AVP
- Origene Custom Protein Services for AVP
- Novus Biologicals lysates for AVP
-
Signalway Proteins for AVP
-
Abcam proteins for AVP
Assay Products
- RayBiotech Human Copeptin EIA and Human Neurophysin-2 EIA
- Creative Diagnostics Vasopressin ( Human, Rat, Mouse, Ovine ) ELISA Kit and arg8-Vasopressin ELISA Kit
- Aviva Systems Biology AVP ELISA Kit (Human) : 96 Wells (OKEH00396) and AVP ELISA Kit (Human) (OKCD06266)
- Novus Biologicals ELISA Kits for AVP
- antibodies-online: Show 96 available Vasopressin Elisa Kits ranked by validation data
- Compare Top Vasopressin Elisa Kits
-
Quality Products:
- ABIN828118
- ABIN454830
- ABIN2815106
- ABIN2506977
- ABIN1874324
- ABIN4947359
- ABIN4889783
- ABIN4889781
- ABIN4889782
- ABIN5522826
- ABIN2506981
- ABIN367936
- ABIN4947360
- ABIN1568173
- ABIN5651861
- ABIN5651860
- ABIN2541574
- ABIN828119
- ABIN2506985
- ABIN1884520
- ABIN5522828
- ABIN626630
- ABIN5593448
- ABIN1568174
- ABIN828123
- ABIN5696512
- ABIN1050557
- ABIN4973692
- ABIN5684693
- ABIN5684694
- ABIN2871259
- ABIN2871261
- ABIN2871260
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:
-
- Neurohypophysial hormone
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for AVP Gene
- GenScript: Design optimal peptide antigens:
-
- AVP-NPII (NEU2_HUMAN)
- Arginine vasopressin (Q9HB76_HUMAN)
- Arginine vasopressin-neurophysin II (Q9UMM9_HUMAN)
Graphical View of Domain Structure for InterPro Entry
P01185- Family:
-
- Belongs to the vasopressin/oxytocin family.
Function for AVP Gene
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)
Phenotypes From GWAS Catalog for AVP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004672 | protein kinase activity | IDA | 18402937 |
| GO:0005102 | signaling receptor binding | TAS | 1740104 |
| GO:0005179 | hormone activity | IEA | -- |
| GO:0005184 | neuropeptide hormone activity | IDA,IEA | 18402937 |
| GO:0005185 | neurohypophyseal hormone activity | IEA | -- |
Phenotypes for AVP Gene
- MGI mutant phenotypes for AVP:
- inferred from 7 alleles
- GenomeRNAi human phenotypes for AVP:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AVP - Select products 50% OFF >
- * AVP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AVP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AVP
- genomics-online: gRNA clones - Search for available Vasopressin gRNA products
- Overview of 98 available Vasopressin gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for AVP
miRNA for AVP Gene
- miRTarBase miRNAs that target AVP
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AVP
- Browse OriGene Inhibitory RNA Products For AVP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AVP
- genomics-online: shRNA clones - Search for available Vasopressin shRNA products
- Overview of 98 available Vasopressin gene related products
Clone Products
- Applied Biological Materials (abm): Clones for AVP - Select products 50% OFF >
- * AVP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for AVP
- Addgene plasmids for AVP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AVP
Cell Line Products
-
Horizon Cell Lines for AVP
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for AVP Gene
Localization for AVP Gene
Subcellular locations from UniProtKB/Swiss-Prot for AVP Gene
- Secreted.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 5 |
| plasma membrane | 3 |
| nucleus | 3 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| golgi apparatus | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IEA,IBA | 21873635 |
| GO:0005623 | cell | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0030141 | secretory granule | IBA,IEA | 21873635 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for AVP Gene
Pathways & Interactions for AVP Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Peptide ligand-binding receptors | ||
| 2 | Signaling by GPCR | ||
| 3 | Aquaporin-mediated transport | ||
| 4 | BMAL1-CLOCK,NPAS2 activates circadian gene expression |
.68
|
|
| 5 | Clathrin-mediated endocytosis | ||
Pathways by source for AVP Gene
2 BioSystems pathways for AVP Gene
4 KEGG pathways for AVP Gene
1 Cell Signaling Technology pathway for AVP Gene
Interacting Proteins for AVP Gene
GPS-Prot Interaction Network for AVP
| 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 |
Drugs & Compounds for AVP Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Norepinephrine | Approved | Pharma | 915 | |||
| 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. | 1383 | |
| 2-Butanol | Experimental, Investigational | Pharma | Target | 0 | ||
| NADP | Experimental | Pharma | Target | 0 |
| 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 |
Transcripts for AVP Gene
mRNA/cDNA for AVP Gene
- 1 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000380293 619 bps (ENST00000380293.3)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for AVP - Select products 50% OFF >
- * AVP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for AVP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for AVP
- genomics-online: gRNA clones - Search for available Vasopressin gRNA products
- Overview of 98 available Vasopressin gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for AVP
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for AVP
- Browse OriGene Inhibitory RNA Products For AVP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AVP
- genomics-online: shRNA clones - Search for available Vasopressin shRNA products
- Overview of 98 available Vasopressin gene related products
Clone Products
- Applied Biological Materials (abm): Clones for AVP - Select products 50% OFF >
- * AVP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for AVP
- Addgene plasmids for AVP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for AVP
Relevant External Links for AVP Gene
- GeneLoc Exon Structure for
- AVP
Expression for AVP Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Brain (Nervous System)
- Mature Choroid Plexus Cells Choroid Plexus
- Thalamus
- Cerebral Cortex
- Neural Tube (Nervous System)
-
Epithelial Cells
- Mature Choroid Plexus Cells Choroid Plexus
mRNA differential expression in normal tissues according to GTEx for AVP Gene
This gene is overexpressed in Brain - Hypothalamus (x52.8).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AVP
SOURCE GeneReport for Unigene cluster for AVP Gene:
Hs.89648Evidence 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
Primer Products
-
OriGene qPCR primer pairs for AVP
-
OriGene qPCR primer pairs and template standards for AVP
Gene Expression Assay Products
No data available for mRNA Expression by UniProt/SwissProt for AVP Gene
Orthologs for AVP Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | AVP 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | AVP 31 30 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | AVP 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Avp 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Avp 30 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| -- 31 |
|
ManyToMany | |||
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
| -- 31 |
|
ManyToMany | |||
| chicken (Gallus gallus) |
Aves | AVP 30 |
|
||
| MST 31 |
|
OneToMany | |||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | avp 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | oxt 31 30 |
|
OneToMany | |
| vsnp 30 |
|
||||
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8741 30 |
|
- 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
Variants for AVP Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AVP Gene
| SNP ID | Clinical significance and condition | Chr 20 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 713238 | Likely Benign: not provided | 3,083,167(-) | G/A | SYNONYMOUS_VARIANT | |
| 715748 | Benign: not provided | 3,083,069(-) | T/A | MISSENSE_VARIANT | |
| 724217 | Benign: not provided | 3,083,149(-) | G/T | SYNONYMOUS_VARIANT | |
| 725170 | Benign: not provided | 3,082,980(-) | C/T | MISSENSE_VARIANT | |
| 739003 | Likely Benign: not provided | 3,084,621(-) | G/A | SYNONYMOUS_VARIANT |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AVP Gene
Disorders for AVP Gene
(67) MalaCards diseases for AVP Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| diabetes insipidus, neurohypophyseal |
|
|
| hereditary central diabetes insipidus |
|
|
| diabetes insipidus |
|
|
| inappropriate adh syndrome |
|
|
| lung oat cell carcinoma |
|
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
No data available for Genatlas for AVP Gene
Publications for AVP Gene
- 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 23 41 54
- 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 23 54
- A signal peptide mutation of the arginine vasopressin gene in monozygotic twins. (PMID: 12519420) Boson WL … Wajchenberg B (Clinical endocrinology 2003) 3 4 23 54
- 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 23 54
- 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 23 54
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Products for AVP Gene
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Sources for AVP Gene
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