• Gene id: 551

Gene Summary

• Gene Symbol: AVP   Gene   UCSC   Ensembl
• Aliases: ADH, ARVP, AVP-NPII, AVRP, VP
• Gene name: arginine vasopressin
• Alternate names: vasopressin-neurophysin 2-copeptin, antidiuretic hormone, copeptin, neurohypophyseal, prepro-AVP-NP II, prepro-arginine-vasopressin-neurophysin II, vasopressin-neurophysin II-copeptin,
• Gene location: 20p13 (3093520: 3082555)     Exons: 4     NC_000020.11
• Gene summary(Entrez): 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
• OMIM: 602050

SNPs

rs397515341

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000014.9   g.49633937_49633952dup
NC_000014.8   g.50100655_50100670dup
NG_013070.1   g.6280_6295dup
NM_018139.2   c.1199_1214dup
NM_001083908.1   c.1199_1214dup
NP_060609.2   p.Gly406fs
NP_001077377.1   p.Gly406fs|SEQ=[GCCACGCAGGTATCGTG/GCCACGCAGGTATCGTGCCACGCA

rs137853191

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000014.9   g.49635127G>A
NC_000014.9   g.49635127G>C
NC_000014.9   g.49635127G>T
NC_000014.8   g.50101845G>A
NC_000014.8   g.50101845G>C
NC_000014.8   g.50101845G>T
NG_013070.1   g.5104C>T
NG_013070.1   g.5104C>G
NG_013070.1   g.5104C>A
NM_018139.2   c.23C>T
NM_01813  

rs3791185

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.107058247G>A
NC_000001.10   g.107600869G>A
NM_018137.2   c.*404G>A
NM_018137.3   c.*404G>A|SEQ=[G/A]|GENE=PRMT6

rs2287498

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000017.11   g.7689242C>T
NC_000017.10   g.7592560C>T
NG_017013.2   g.3309G>A
NG_028245.1   g.8172C>T
NM_018081.2   c.450C>T
NM_001143991.2   c.450C>T
NM_001143991.1   c.450C>T
NM_001143992.2   c.450C>T
NM_001143992.1   c.450C>T
NM_001143990.1   c.450C>T
XR_001752551.  

rs2232015

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.107056636A>G
NC_000001.11   g.107056636A>T
NC_000001.10   g.107599258A>G
NC_000001.10   g.107599258A>T|SEQ=[A/G/T]|GENE=PRMT6

Protein Summary

• Protein general information: P01185  
  • Name: Vasopressin neurophysin 2 copeptin (AVP NPII) [Cleaved into: Arg vasopressin (Arginine vasopressin); Neurophysin 2 (Neurophysin II); Copeptin]
  • Length: 164  
  • Mass: 17325
• Sequence:

  MPDTMLPACFLGLLAFSSACYFQNCPRGGKRAMSDLELRQCLPCGPGGKGRCFGPSICCADELGCFVGTAEALRC
  QEENYLPSPCQSGQKACGSGGRCAAFGVCCNDESCVTEPECREGFHRRARASDRSNATQLDGPAGALLLRLVQLA
  GAPEPFEPAQPDAY

• Structural information:
  • Interpro: IPR000981  IPR036387  IPR022423  
  • Prosite: PS00264
  • STRING: ENSP00000369647
• Other Databases: GeneCards:  AVP  Malacards:  AVP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031894	V1A vasopressin receptor binding	IBA	molecular function
GO:0030141	secretory granule	IBA	cellular component
GO:0005615	extracellular space	IBA	cellular component
GO:0005184	neuropeptide hormone activity	IBA	molecular function
GO:0005185	neurohypophyseal hormone activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0042310	vasoconstriction	IEA	biological process
GO:0005179	hormone activity	IEA	molecular function
GO:0005184	neuropeptide hormone activity	TAS	molecular function
GO:0005102	signaling receptor binding	TAS	molecular function
GO:0005102	signaling receptor binding	TAS	molecular function
GO:0006833	water transport	TAS	biological process
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0007267	cell-cell signaling	TAS	biological process
GO:0003091	renal water homeostasis	TAS	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0030665	clathrin-coated vesicle membrane	TAS	cellular component
GO:0061024	membrane organization	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0002125	maternal aggressive behavior	IEA	biological process
GO:0005184	neuropeptide hormone activity	IEA	molecular function
GO:0005615	extracellular space	IEA	cellular component
GO:0007621	negative regulation of female receptivity	IEA	biological process
GO:0007626	locomotory behavior	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0030141	secretory granule	IEA	cellular component
GO:0030425	dendrite	IEA	cellular component
GO:0031394	positive regulation of prostaglandin biosynthetic process	IEA	biological process
GO:0031894	V1A vasopressin receptor binding	IEA	molecular function
GO:0031895	V1B vasopressin receptor binding	IEA	molecular function
GO:0035176	social behavior	IEA	biological process
GO:0035813	regulation of renal sodium excretion	IEA	biological process
GO:0042538	hyperosmotic salinity response	IEA	biological process
GO:0043084	penile erection	IEA	biological process
GO:0045471	response to ethanol	IEA	biological process
GO:0051970	negative regulation of transmission of nerve impulse	IEA	biological process
GO:0003084	positive regulation of systemic arterial blood pressure	IEA	biological process
GO:0007204	positive regulation of cytosolic calcium ion concentration	IEA	biological process
GO:0007625	grooming behavior	IEA	biological process
GO:0014049	positive regulation of glutamate secretion	IEA	biological process
GO:0030307	positive regulation of cell growth	IEA	biological process
GO:0032849	positive regulation of cellular pH reduction	IEA	biological process
GO:0033574	response to testosterone	IEA	biological process
GO:0035094	response to nicotine	IEA	biological process
GO:0042711	maternal behavior	IEA	biological process
GO:0045907	positive regulation of vasoconstriction	IEA	biological process
GO:0050891	multicellular organismal water homeostasis	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0090201	negative regulation of release of cytochrome c from mitochondria	IDA	biological process
GO:0010628	positive regulation of gene expression	IDA	biological process
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IDA	biological process
GO:0004672	protein kinase activity	IDA	molecular function
GO:0070528	protein kinase C signaling	IDA	biological process
GO:0070371	ERK1 and ERK2 cascade	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0007165	signal transduction	IDA	biological process
GO:0005184	neuropeptide hormone activity	IDA	molecular function
GO:0043027	cysteine-type endopeptidase inhibitor activity involved in apoptotic process	IDA	molecular function
GO:0033138	positive regulation of peptidyl-serine phosphorylation	IDA	biological process
GO:0031894	V1A vasopressin receptor binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04072	Phospholipase D signaling pathway
hsa04270	Vascular smooth muscle contraction
hsa04962	Vasopressin-regulated water reabsorption

Diseases

Associated diseases	References
Endometriosis	INFBASE: 24488583
Neurohypophyseal diabetes insipidus	KEGG:H00253
Neurohypophyseal diabetes insipidus	KEGG:H00253
neurohypophyseal diabetes insipidus	PMID:18494865
Diabetes insipidus	PMID:8945633
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray