AVP Gene (Protein Coding)

Arginine Vasopressin

GC20M003082
GIFtS:
47
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

  • Arginine Vasopressin 2 3 5
  • Prepro-Arginine-Vasopressin-Neurophysin II 2 3
  • Vasopressin-Neurophysin 2-Copeptin 3 4
  • Antidiuretic Hormone 2 3
  • Neurohypophyseal 2 3
  • Prepro-AVP-NP II 2 3
  • Copeptin 2 3
  • AVP-NPII 3 4
  • ARVP 3 4
  • ADH 2 3
  • VP 3 4
  • Vasopressin-Neurophysin II-Copeptin 3
  • Diabetes Insipidus 2
  • Neurophysin II 2
  • AVRP 3
  • AVP 5

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 Signaling by GPCR and Peptide ligand-binding receptors. 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).

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 , Rfam classification and piRNA Summary for AVP Gene

Genomics for AVP Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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
GH20J003092 Promoter/Enhancer 1.1 FANTOM5 Ensembl ENCODE 250.7 -0.1 -140 2.5 BHLHE40 SIN3A POLR2A TAF1 ARID1B EZH2 NR2F2 KDM1A AVP RF00017-3499 RN7SL555P lnc-OXT-2 SNRPB PCED1A UBOX5 FASTKD5 PTPRA
GH20J003085 Promoter 0.5 EPDnew 250.4 +8.8 8758 0.1 ZIC2 ZBTB33 lnc-AVP-1 AVP HSALNG0128229 L13704-001 OXT
GH20J003093 Enhancer 0.2 Ensembl 250.7 +1.4 1420 0.2 AVP PCED1A L13704-001 OXT
GH20J003172 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 4.1 -80.9 -80879 3.6 ZSCAN16 CHD2 SP1 ZBTB10 MXD4 CEBPA IKZF1 ZBTB7B ZEB1 ZIC2 LZTS3 LOC107985414 MN297785 lnc-ITPA-2 ITPA DDRGK1 ZNF343 PANK2-AS1 SNRPB VPS16
GH20J004076 Enhancer 0.7 ENCODE dbSUPER 5.5 -983.3 -983252 1 CEBPB EP300 STAT3 JUND MEIS2 POLR2A FOS ENSG00000205300 MN298678-039 AVP SMOX RNF24
- 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 the GeneHancer Hub at the UCSC Golden Path

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

Latest Assembly
chr20:3,082,556-3,093,521
(GRCh38/hg38)
Size:
10,966 bases
Orientation:
Minus strand

Previous Assembly
chr20:3,063,202-3,065,370
(GRCh37/hg19 by Entrez Gene)
Size:
2,169 bases
Orientation:
Minus strand

chr20:3,063,202-3,065,370
(GRCh37/hg19 by Ensembl)
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

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  • 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 Asn131
  • Modification sites at PhosphoSitePlus

Other Protein References for AVP Gene

ENSEMBL proteins:
REFSEQ proteins:

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

InterPro:
Blocks:
  • Neurohypophysial hormone
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

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

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  6. Cell Lines for research

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

Gene Ontology (GO) - Molecular Function 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 IEA,IDA 18402937
GO:0005185 neurohypophyseal hormone activity IEA --
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 Models for research

miRNA for AVP Gene

miRTarBase miRNAs that target AVP

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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.

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
peroxisome 2
nucleus 2
endoplasmic reticulum 2
endosome 2
lysosome 2
golgi apparatus 2

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,IBA 21873635
GO:0005829 cytosol TAS --
GO:0030141 secretory granule IEA,IBA 21873635
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:0006468 protein phosphorylation IEA --
genes like me logo Genes that share ontologies with AVP: view

Drugs & Compounds for AVP Gene

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Norepinephrine Approved Pharma 1003
Desmopressin Approved Pharma Hemostatic and anti-diuretic, Synthetic vasopressin analog; V1B and V2 agonist 0
Angiotensin II Approved, Investigational Pharma Potent vasopressor and a powerful stimulus for production and release of aldosterone from the adrenal cortex. 1402
2-Butanol Experimental, Investigational Pharma Target 0
NADP 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

Transcripts for AVP Gene

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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 :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products 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

Expression for AVP Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

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

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AVP

SOURCE GeneReport for Unigene cluster for AVP Gene:

Hs.89648

Evidence on tissue expression from TISSUES for AVP Gene

  • Nervous system(3.6)
  • Urine(3)
  • Blood(2.8)
  • Kidney(2.7)
  • Adrenal gland(2.4)
  • Liver(2.4)
  • Heart(2.3)
  • Muscle(2.2)
  • Thyroid gland(2.1)
  • Skin(2.1)
  • Intestine(2)

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

Primer products for research

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 30 31
  • 97.36 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia AVP 30 31
  • 92.17 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia AVP 30 31
  • 91.67 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Avp 30 17 31
  • 84.96 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Avp 30
  • 83.54 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 69 (a)
 ManyToMany
-- 31
  • 66 (a)
 ManyToMany
-- 31
  • 57 (a)
 ManyToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 68 (a)
 ManyToMany
-- 31
  • 62 (a)
 ManyToMany
Chicken
(Gallus gallus)
 Aves AVP 30
  • 68.67 (n)
MST 31
  • 59 (a)
 OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia avp 30
  • 63.58 (n)
Zebrafish
(Danio rerio)
 Actinopterygii oxt 30 31
  • 58.68 (n)
 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 (Eremothecium 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 Vase (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

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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
976038 Likely Pathogenic: Neurohypophyseal diabetes insipidus 3,083,064(-) TCTC/T
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del) 		INFRAME_DELETION
rs1057516192 Likely Pathogenic: Neurohypophyseal diabetes insipidus 3,083,168(-) C/A
NM_000490.5(AVP):c.131G>T (p.Cys44Phe) 		MISSENSE
rs1057521601 Uncertain Significance: not provided 3,082,796(-) C/T
NM_000490.5(AVP):c.329G>A (p.Cys110Tyr) 		MISSENSE
rs1064796944 Uncertain Significance: not provided 3,082,802(-) T/A
NM_000490.5(AVP):c.323A>T (p.Glu108Val) 		MISSENSE
rs121964882 Pathogenic: Neurohypophyseal diabetes insipidus. Diabetes insipidus, neurohypophyseal (NDI) [MIM:125700] 3,083,037(-) C/Tp.Gly88Ser
NM_000490.5(AVP):c.262G>A (p.Gly88Ser) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for AVP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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 Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AVP Gene

Disorders for AVP Gene

MalaCards: The human disease database

(70) MalaCards diseases for AVP Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
diabetes insipidus, neurohypophyseal
  • diabetes insipidus, primary central; cdi
hereditary central diabetes insipidus
  • hereditary cdi
diabetes insipidus
inappropriate adh syndrome
  • syndrome of inappropriate antidiuretic hormone secretion
secondary adrenal insufficiency
  • hypocortisolism secondary to another disorder
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for AVP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 23 41
  2. A single base substitution in the coding region for neurophysin II associated with familial central diabetes insipidus. (PMID: 1840604) Ito M … Saito H (The Journal of clinical investigation 1991) 2 3 23 74
  3. Combined effects of exonic polymorphisms in CRHR1 and AVPR1B genes in a case/control study for panic disorder. (PMID: 18384079) Keck ME … Binder EB (American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2008) 3 23 41
  4. 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
  5. 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

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