Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	551
Gene name	Arginine vasopressin
Gene symbol	AVP
Synonyms (NCBI Gene)	ADHARVPAVP-NPIIAVRPVP
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

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

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

Show/Hide all (3)

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

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

MIM	HGNC	e!Ensembl
192340	894	ENSG00000101200

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

Interactions

View interactions

	KEGG		Reactome
	Phospholipase D signaling pathway Neuroactive ligand-receptor interaction Hormone signaling Vascular smooth muscle contraction Vasopressin-regulated water reabsorption		Vasopressin-like receptors G alpha (q) signalling events G alpha (s) signalling events Vasopressin regulates renal water homeostasis via Aquaporins 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

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
AVP-related disorder	Pathogenic; Likely pathogenic	rs387906511, rs121964891, rs2517100494	RCV004755730 RCV003407322 RCV003929260
Diabetes insipidus, neurohypophyseal, autosomal recessive	Pathogenic	rs121964892	RCV000013003
Neurohypophyseal diabetes insipidus	Pathogenic; Likely pathogenic	rs2148570601, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2148571870, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383 View all (4 more)	RCV002273132 RCV000012988 RCV000012989 RCV000012990 RCV000012992 RCV000012993 RCV000012994 RCV000012996 RCV000012997 RCV000012998 RCV000012999 RCV000013000 RCV000013001 RCV000013002 RCV000013004 RCV000013005 RCV003990534 RCV004555290 RCV000408826

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Diabetes insipidus	Conflicting classifications of pathogenicity	rs1057521601	RCV002051851

Show/Hide Text Mining Associations (95)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Acute Coronary Syndrome	Associate	29619130
Adenomyosis	Associate	20413116
Albuminuria	Associate	24375010
Alcohol Related Disorders	Associate	37313445
Alzheimer Disease	Associate	32348224
Anemia Sickle Cell	Associate	24223742, 31710639, 34852350
Anxiety	Associate	23413037, 26615966
Arterial Occlusive Diseases	Inhibit	24223742
Arterial Occlusive Diseases	Associate	34852350
Arthritis Rheumatoid	Associate	24551036
Autism Spectrum Disorder	Associate	23413037, 29309996
Autistic Disorder	Associate	24086383
Autonomic Nervous System Diseases	Associate	22257050
Breast Neoplasms	Associate	16331351, 36460880
Calcinosis	Associate	35339998
Carcinoma Hepatocellular	Associate	27086812
Carcinoma Non Small Cell Lung	Associate	12403649, 8293425
Carcinoma Small Cell	Associate	9357056
Cardiomyopathy Restrictive	Associate	23413037
Central Nervous System Cysts	Inhibit	23278971
Charcot Marie Tooth Disease	Associate	33029488
Chest Pain	Associate	29619130
Coronary Vasospasm	Associate	30057184
Cysts	Associate	22952279
Deafness	Associate	931428
Death	Associate	28118730, 29619130, 33504164
Diabetes Insipidus	Associate	31238300, 34319541, 35137152, 931428
Diabetes Insipidus Nephrogenic	Associate	16502494, 18489790, 19170711, 19461158, 19488606, 19812297, 22474537, 7527400, 8514744
Diabetes Insipidus Neurogenic	Associate	10085151, 11603568, 15644573, 1840604, 19170711, 27075406, 28413003, 31238300, 34319541, 34544934, 8514868, 8554046, 9109434, 9745855
Diabetes Mellitus	Associate	26503846, 30057184, 931428
Diabetes Mellitus	Stimulate	27928437
Diabetes Mellitus Type 2	Associate	27049477
Drug Hypersensitivity	Stimulate	28779264
Drug Related Side Effects and Adverse Reactions	Associate	10085151
Endotoxemia	Associate	35226903
Eye Diseases	Associate	23278971
Fatigue Syndrome Chronic	Inhibit	27401397
Fibrosis	Associate	17954951
Glaucoma Open Angle	Associate	37940950
Glucose Intolerance	Stimulate	28118730
Glucose Metabolism Disorders	Associate	28118730
Heart Failure	Associate	17954951, 26711465
Hepatitis B	Associate	30627556
Huntington Disease	Associate	23288978
Hyperglycemia	Associate	27049477
Hyperphagia	Associate	26615966
Hypertension	Stimulate	24375010
Hypoglycemia	Associate	27049477
Hyponatremia	Associate	27086812, 28783044
Hypoxia Brain	Associate	33879148
Inappropriate ADH Syndrome	Associate	17954951, 34389446
Insulin Resistance	Associate	27049477, 30627556
Ischemia	Associate	26100831
Lung Neoplasms	Associate	12403649, 2991279, 8293425
Malnutrition	Associate	26855046
Mental Disorders	Associate	23413037, 26615966
Metabolic Diseases	Associate	27049477
Metabolic Syndrome	Stimulate	27928437
Mitral Valve Insufficiency	Associate	31356682
Myocardial Infarction	Associate	21766239, 21915168, 28118730
Myocardial Infarction	Stimulate	26711465
Myotonic Dystrophy	Associate	30057184
Neoplasms	Associate	10471042, 10585887, 16331351, 27086812, 35663322, 8297723
Neuroendocrine Tumors	Associate	8293425
Nocturnal Enuresis	Associate	34544934
Obesity	Associate	27928437
Obesity Abdominal	Associate	26503846
Optic Atrophy	Associate	931428
Overweight	Associate	26503846
Pain	Associate	31710639
Peripheral Arterial Disease	Associate	33504164
Polycystic Kidney Autosomal Dominant	Associate	15327388, 20167686, 22718190, 22952279
Polydipsia	Associate	34319541
Polyuria	Associate	34319541
Prader Willi Syndrome	Associate	37313445, 39237036
Pre Eclampsia	Associate	31138298
Pre Eclampsia	Inhibit	31175056
Prostatic Neoplasms	Associate	30627556
Psychotic Disorders	Associate	37373400
Pulmonary Arterial Hypertension	Associate	26711465
Pulmonary Disease Chronic Obstructive	Associate	28408815
Pulmonary Embolism	Associate	21915168
Pulmonary Embolism	Stimulate	26711465
Pure Autonomic Failure	Stimulate	21098405
Schizophrenia	Associate	21899794
Shock	Associate	27483394
Sleep Apnea Obstructive	Stimulate	33879148
Small Cell Lung Carcinoma	Associate	10471042, 10585887, 12403649, 15613460, 1702222, 2991279, 30627556, 7540734, 8293425, 8297723, 9357056
Vascular Calcification	Stimulate	35339998
Ventricular Dysfunction	Associate	34852350
Ventricular Dysfunction Right	Associate	26711465
Ventricular Dysfunction Right	Stimulate	34852350
Virus Diseases	Associate	30627556
Waterborne Diseases	Associate	19461158, 27928437
Williams Syndrome	Associate	22719898

AVP (arginine vasopressin)