AVP (arginine vasopressin)

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Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 551
• Gene name: Arginine vasopressin
• Gene symbol: AVP
• Synonyms (NCBI Gene): ADH, ARVP, AVP-NPII, AVRP, VP
• Chromosome: 20
• Chromosome location: 20p13
• Summary: 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, neurophy

SNPs Show/Hide all (18)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28934878	A>G	Pathogenic	Missense variant, coding sequence variant
rs74315383	A>C	Pathogenic	Coding sequence variant, missense variant
rs121964882	C>T	Pathogenic	Coding sequence variant, missense variant
rs121964883	C>A	Pathogenic	Coding sequence variant, missense variant
rs121964884	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs121964885	C>A	Pathogenic	Coding sequence variant, missense variant
rs121964886	C>A	Pathogenic	Coding sequence variant, missense variant
rs121964887	C>A	Pathogenic	Coding sequence variant, missense variant
rs121964888	C>G	Pathogenic	Coding sequence variant, missense variant
rs121964889	C>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs121964890	G>A	Pathogenic	Coding sequence variant, missense variant
rs121964891	C>T	Pathogenic	Coding sequence variant, missense variant
rs121964892	G>A	Pathogenic	Coding sequence variant, missense variant
rs121964893	A>G	Pathogenic	Coding sequence variant, missense variant
rs387906511	C>T	Pathogenic	Coding sequence variant, missense variant
rs387906512	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057516192	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1568733815	A>C	Pathogenic	Splice donor variant

miRNA Show/Hide all (9)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018794	hsa-miR-335-5p	Microarray	18185580
MIRT812308	hsa-miR-1205	CLIP-seq
MIRT812309	hsa-miR-1909	CLIP-seq
MIRT812310	hsa-miR-3178	CLIP-seq
MIRT812311	hsa-miR-3180	CLIP-seq
MIRT812312	hsa-miR-3180-3p	CLIP-seq
MIRT812313	hsa-miR-3196	CLIP-seq
MIRT812314	hsa-miR-4634	CLIP-seq
MIRT812315	hsa-miR-4767	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ESR1	Unknown	11089536
ESR2	Unknown	11089536
REST	Activation	12220737

Gene ontology (GO) Show/Hide all (69)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002125	Process	Maternal aggressive behavior	IBA
GO:0002125	Process	Maternal aggressive behavior	IEA
GO:0003084	Process	Positive regulation of systemic arterial blood pressure	IBA
GO:0003084	Process	Positive regulation of systemic arterial blood pressure	IEA
GO:0004672	Function	Protein kinase activity	IDA	18402937
GO:0005102	Function	Signaling receptor binding	TAS	1740104, 8794883
GO:0005179	Function	Hormone activity	IDA	33664408, 33742150
GO:0005179	Function	Hormone activity	IEA
GO:0005184	Function	Neuropeptide hormone activity	IBA
GO:0005184	Function	Neuropeptide hormone activity	IDA	18402937
GO:0005184	Function	Neuropeptide hormone activity	IEA
GO:0005184	Function	Neuropeptide hormone activity	TAS	1740104
GO:0005185	Function	Neurohypophyseal hormone activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183, 33713620
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	33713620
GO:0005615	Component	Extracellular space	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	1740104
GO:0006833	Process	Water transport	TAS	1740104
GO:0007165	Process	Signal transduction	IEA
GO:0007165	Process	Signal transduction	TAS	8794883
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IDA	17110384, 33742150
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007267	Process	Cell-cell signaling	TAS	1740104
GO:0007621	Process	Negative regulation of female receptivity	IEA
GO:0007625	Process	Grooming behavior	IEA
GO:0007626	Process	Locomotory behavior	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009651	Process	Response to salt stress	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	18538351
GO:0014049	Process	Positive regulation of glutamate secretion	IEA
GO:0030141	Component	Secretory granule	IBA
GO:0030141	Component	Secretory granule	IEA
GO:0030307	Process	Positive regulation of cell growth	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030669	Component	Clathrin-coated endocytic vesicle membrane	TAS
GO:0031394	Process	Positive regulation of prostaglandin biosynthetic process	IEA
GO:0031894	Function	V1A vasopressin receptor binding	IBA
GO:0031894	Function	V1A vasopressin receptor binding	IEA
GO:0031894	Function	V1A vasopressin receptor binding	IPI	18402937
GO:0031895	Function	V1B vasopressin receptor binding	IEA
GO:0032849	Process	Positive regulation of cellular pH reduction	IEA
GO:0033555	Process	Multicellular organismal response to stress	IEA
GO:0033574	Process	Response to testosterone	IEA
GO:0035094	Process	Response to nicotine	IEA
GO:0035176	Process	Social behavior	IEA
GO:0035556	Process	Intracellular signal transduction	IBA
GO:0035556	Process	Intracellular signal transduction	IDA	18402937
GO:0042310	Process	Vasoconstriction	IEA
GO:0042711	Process	Maternal behavior	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	18402937
GO:0045471	Process	Response to ethanol	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IBA
GO:0045907	Process	Positive regulation of vasoconstriction	IEA
GO:0046718	Process	Symbiont entry into host cell	IDA	33713620
GO:0050891	Process	Multicellular organismal-level water homeostasis	IEA
GO:0051602	Process	Response to electrical stimulus	IEA
GO:0051970	Process	Negative regulation of transmission of nerve impulse	IEA
GO:0070295	Process	Renal water absorption	IDA	19440390
GO:0070295	Process	Renal water absorption	TAS	33742150
GO:0097746	Process	Blood vessel diameter maintenance	IEA
GO:0098992	Component	Neuronal dense core vesicle	IEA
GO:1901652	Process	Response to peptide	IEA
GO:1904612	Process	Response to 2,3,7,8-tetrachlorodibenzodioxine	IEA
GO:1990089	Process	Response to nerve growth factor	IEA

Other IDs

• MIM: 192340
• HGNC: 894
• e!Ensembl: ENSG00000101200

Protein

• UniProt ID: P01185
• Protein name: Vasopressin-neurophysin 2-copeptin (AVP-NPII) [Cleaved into: Arg-vasopressin (Arginine-vasopressin); Neurophysin 2 (Neurophysin-II); Copeptin]
• Protein function: [Neurophysin 2]: Specifically binds vasopressin.; [Arg-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
• PDB: 7BB6 , 7BB7 , 7DW9 , 7KH0 , 7R0C
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00220	Hormone_4	20 → 28	Neurohypophysial hormones, N-terminal Domain	Family
  PF00184	Hormone_5	39 → 116	Neurohypophysial hormones, C-terminal Domain	Family

• Sequence:

  MPDTMLPACFLGLLAFSSACYFQNCPRGGKRAMSDLELRQCLPCGPGGKGRCFGPSICCA
  DELGCFVGTAEALRCQEENYLPSPCQSGQKACGSGGRCAAFGVCCNDESCVTEPECREGF
  HRRARASDRSNATQLDGPAGALLLRLVQLAGAPEPFEPAQPDAY

• Sequence length: 164

Pathways

KEGG Pathway	Reactome Pathway
Phospholipase D signaling pathway	Vasopressin-like receptors
Neuroactive ligand-receptor interaction	G alpha (q) signalling events
Hormone signaling	G alpha (s) signalling events
Vascular smooth muscle contraction	Vasopressin regulates renal water homeostasis via Aquaporins
Vasopressin-regulated water reabsorption	Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI)
	Transport of organic anions
	Cargo recognition for clathrin-mediated endocytosis
	Clathrin-mediated endocytosis
	Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI)
	ADORA2B mediated anti-inflammatory cytokines production

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
AVP-related disorder	Pathogenic; Likely pathogenic	rs387906511, rs121964891, rs2517100494	RCV004755730 RCV003407322 RCV003929260	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes insipidus, neurohypophyseal, autosomal recessive	Pathogenic	rs121964892	RCV000013003	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurohypophyseal diabetes insipidus	Pathogenic; Likely pathogenic	rs2148570601, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2148571870, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs2517100221, rs2517099578, rs1057516192	RCV002273132 RCV000012988 RCV000012989 RCV000012990 RCV000012992 RCV000012993 RCV000012994 RCV000012996 RCV000012997 RCV000012998 RCV000012999 RCV000013000 RCV000013001 RCV000013002 RCV000013004 RCV000013005 RCV003990534 RCV004555290 RCV000408826	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (35)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AMNESIA	—	CTD, Disgenet CTD, Disgenet	7562510	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMNESTIC DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGINA PECTORIS	—	CTD	11128043, 11791009	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMIAS, CARDIAC	—	CTD	6983645	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	8570775	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	CTD, Disgenet CTD, Disgenet	12145768	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL DIABETES INSIPIDUS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSED MOOD	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes insipidus	Conflicting classifications of pathogenicity	ClinVar CTD, Disgenet CTD, Disgenet	15169711, 6945054	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DIABETES INSIPIDUS, NEUROGENIC	—	CTD	7057320	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES INSIPIDUS, NEUROHYPOPHYSEAL	—	HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ARGININE VASOPRESSIN DEFICIENCY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROINTESTINAL HEMORRHAGE	—	CTD	6983645	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	18179782	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY ARGININE VASOPRESSIN DEFICIENCY	—	Orphanet	14673472	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	9613798	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	1663982, 19133994, 3346065, 4040330, 6367368	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PORTAL	—	CTD	6696534	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTENSION	—	CTD	11171655, 12019395, 17357383, 2485266, 3544871	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MEMORY DISORDERS	—	CTD, Disgenet CTD, Disgenet	11553362	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PORTAL HYPERTENSION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY CARDIOMYOPATHY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHOTIC DISORDERS	—	CTD	3567260	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	CTD, Disgenet CTD, Disgenet	3567260	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHY-DRAGER SYNDROME	—	CTD, Disgenet CTD, Disgenet	6850280	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SMALL CELL LUNG CARCINOMA	—	CTD	2832203	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE WITHDRAWAL SYNDROME	—	CTD	4040330	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYMPTOMS OF DEPRESSION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

AVPR2 4 shared diseasesCardiomyopathy, Neurogenic diabetes insipidus, Congestive heart failure, Nephrogenic diabetes insipidus 10 shared pathwaysPhospholipase D signaling pathway, Hormone signaling, Vasopressin-regulated water reabsorption, Clathrin-mediated endocytosis, G alpha (s) signalling events, ADORA2B mediated anti-inflammatory cytokines production, Cargo recognition for clathrin-mediated endocytosis, Vasopressin regulates renal water homeostasis via Aquaporins, Vasopressin-like receptors, Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI) 8 shared evidence sourcesDisgenet (Cardiomyopathy), CTD (Cardiomyopathy), Disgenet (Congestive heart failure), CTD (Neurogenic diabetes insipidus), HPO (Neurogenic diabetes insipidus), CTD (Heart failure), Disgenet (Heart failure), GWAS catalog (Nephrogenic diabetes insipidus) Related via 10 shared pathways including Phospholipase D signaling pathway, Hormone signaling — evidence mostly Disgenet. AQP2 4 shared diseasesCardiomyopathy, Neurogenic diabetes insipidus, Diabetes insipidus, Nephrogenic diabetes insipidus 2 shared pathwaysVasopressin-regulated water reabsorption, Vasopressin regulates renal water homeostasis via Aquaporins 7 shared evidence sourcesDisgenet (Cardiomyopathy), CTD (Cardiomyopathy), Disgenet (Neurogenic diabetes insipidus), Disgenet (Diabetes insipidus), CTD (Neurogenic diabetes insipidus), HPO (Neurogenic diabetes insipidus), GWAS catalog (Nephrogenic diabetes insipidus) Related via 4 shared diseases including Cardiomyopathy, Neurogenic diabetes insipidus — evidence mostly Disgenet. PPP1R1A 3 shared diseasesCardiac arrhythmia, Cardiomyopathy, Congestive heart failure 7 shared evidence sourcesCTD (Cardiac arrhythmia), Disgenet (Cardiac arrhythmia), Disgenet (Cardiomyopathy), CTD (Cardiomyopathy), Disgenet (Congestive heart failure), CTD (Heart failure), Disgenet (Heart failure) Related via 3 shared diseases including Cardiac arrhythmia, Cardiomyopathy — evidence mostly Disgenet. TRH 3 shared diseasesAmnesia, Cardiac arrhythmia, Depression 2 shared pathwaysHormone signaling, G alpha (q) signalling events 6 shared evidence sourcesCTD (Amnesia), Disgenet (Amnesia), CTD (Cardiac arrhythmia), Disgenet (Cardiac arrhythmia), Disgenet (Depression), CTD (Hypertension) Related via 3 shared diseases including Amnesia, Cardiac arrhythmia — evidence mostly CTD. BDKRB2 5 shared diseasesCardiomyopathy, Depression, Hyperalgesia, Hypotension, Kidney failure 1 shared pathwayG alpha (q) signalling events 7 shared evidence sourcesDisgenet (Cardiomyopathy), CTD (Cardiomyopathy), Disgenet (Depression), CTD (Hypertension), CTD (Hyperalgesia), CTD (Hypotension), Disgenet (Kidney failure) Related via 5 shared diseases including Cardiomyopathy, Depression — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
AVPR2	4	["Cardiomyopathy","Neurogenic diabetes insipidus","Congestive heart failure","Nephrogenic diabetes insipidus"]	10	["Phospholipase D signaling pathway","Hormone signaling","Vasopressin-regulated water reabsorption","Clathrin-mediated endocytosis","G alpha (s) signalling events","ADORA2B mediated anti-inflammatory cytokines production","Cargo recognition for clathrin-mediated endocytosis","Vasopressin regulates renal water homeostasis via Aquaporins","Vasopressin-like receptors","Defective AVP does not bind AVPR2 and causes neurohypophyseal diabetes insipidus (NDI)"]	8	["Disgenet (Cardiomyopathy)","CTD (Cardiomyopathy)","Disgenet (Congestive heart failure)","CTD (Neurogenic diabetes insipidus)","HPO (Neurogenic diabetes insipidus)","CTD (Heart failure)","Disgenet (Heart failure)","GWAS catalog (Nephrogenic diabetes insipidus)"]
AQP2	4	["Cardiomyopathy","Neurogenic diabetes insipidus","Diabetes insipidus","Nephrogenic diabetes insipidus"]	2	["Vasopressin-regulated water reabsorption","Vasopressin regulates renal water homeostasis via Aquaporins"]	7	["Disgenet (Cardiomyopathy)","CTD (Cardiomyopathy)","Disgenet (Neurogenic diabetes insipidus)","Disgenet (Diabetes insipidus)","CTD (Neurogenic diabetes insipidus)","HPO (Neurogenic diabetes insipidus)","GWAS catalog (Nephrogenic diabetes insipidus)"]
PPP1R1A	3	["Cardiac arrhythmia","Cardiomyopathy","Congestive heart failure"]	0	[]	7	["CTD (Cardiac arrhythmia)","Disgenet (Cardiac arrhythmia)","Disgenet (Cardiomyopathy)","CTD (Cardiomyopathy)","Disgenet (Congestive heart failure)","CTD (Heart failure)","Disgenet (Heart failure)"]
TRH	3	["Amnesia","Cardiac arrhythmia","Depression"]	2	["Hormone signaling","G alpha (q) signalling events"]	6	["CTD (Amnesia)","Disgenet (Amnesia)","CTD (Cardiac arrhythmia)","Disgenet (Cardiac arrhythmia)","Disgenet (Depression)","CTD (Hypertension)"]
BDKRB2	5	["Cardiomyopathy","Depression","Hyperalgesia","Hypotension","Kidney failure"]	1	["G alpha (q) signalling events"]	7	["Disgenet (Cardiomyopathy)","CTD (Cardiomyopathy)","Disgenet (Depression)","CTD (Hypertension)","CTD (Hyperalgesia)","CTD (Hypotension)","Disgenet (Kidney failure)"]

Diseases Linked via Similar Genes

Arginine vasopressin resistance Linked via 2 of 5 related genesAVPR2, AQP2 Asthma Linked via 2 of 5 related genesAQP2, BDKRB2 Growth disorder Linked via 1 of 5 related genesAVPR2 Seasonal allergic rhinitis Linked via 1 of 5 related genesAQP2 Hepatocellular carcinoma Linked via 1 of 5 related genesPPP1R1A

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Arginine vasopressin resistance	2	["AVPR2","AQP2"]
Asthma	2	["AQP2","BDKRB2"]
Growth disorder	1	["AVPR2"]
Seasonal allergic rhinitis	1	["AQP2"]
Hepatocellular carcinoma	1	["PPP1R1A"]