• Gene id: 554

Gene Summary

• Gene Symbol: AVPR2   Gene   UCSC   Ensembl
• Aliases: ADHR, DI1, DIR, DIR3, NDI, V2R
• Gene name: arginine vasopressin receptor 2
• Alternate names: vasopressin V2 receptor, AVPR V2, antidiuretic hormone receptor, renal-type arginine vasopressin receptor,
• Gene location: Xq28 (153902624: 153907165)     Exons: 5     NC_000023.11
• Gene summary(Entrez): This gene encodes the vasopressin receptor, type 2, also known as the V2 receptor, which belongs to the seven-transmembrane-domain G protein-coupled receptor (GPCR) superfamily, and couples to Gs thus stimulating adenylate cyclase. The subfamily that incl
• OMIM: 606422

SNPs

rs3741843

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

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

rs1048055

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

NC_000020.11   g.1629416A>C
NC_000020.10   g.1610062A>C
NM_018556.4   c.*223T>G
NM_018556.3   c.*223T>G
XM_005260749.4   c.*223T>G
XM_005260749.1   c.*223T>G
XM_011529286.2   c.*223T>G
NM_080816.2   c.*223T>G
NM_080816.3   c.*223T>G
NM_001039508.1   c.*223T>G|SEQ=[A/C]|

rs1025689

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

NC_000003.12   g.53849695C>A
NC_000003.12   g.53849695C>G
NC_000003.12   g.53849695C>T
NC_000003.11   g.53883722C>A
NC_000003.11   g.53883722C>G
NC_000003.11   g.53883722C>T
NG_028042.1   g.1699G>T
NG_028042.1   g.1699G>C
NG_028042.1   g.1699G>A
XM_005265310.5   c.126C>

rs2281807

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

NC_000020.11   g.1629555C>T
NC_000020.10   g.1610201C>T
NM_018556.4   c.*84G>A
NM_018556.3   c.*84G>A
XM_005260749.4   c.*84G>A
XM_005260749.1   c.*84G>A
XM_011529286.2   c.*84G>A
NM_080816.2   c.*84G>A
NM_080816.3   c.*84G>A
NM_001039508.1   c.*84G>A|SEQ=[C/T]|GENE=SIR

Protein Summary

• Protein general information: P30518  
  • Name: Vasopressin V2 receptor (V2R) (AVPR V2) (Antidiuretic hormone receptor) (Renal type arginine vasopressin receptor)
  • Length: 371  
  • Mass: 40279
  • Tissue specificity: Kidney.
• Sequence:

  MLMASTTSAVPGHPSLPSLPSNSSQERPLDTRDPLLARAELALLSIVFVAVALSNGLVLAALARRGRRGHWAPIH
  VFIGHLCLADLAVALFQVLPQLAWKATDRFRGPDALCRAVKYLQMVGMYASSYMILAMTLDRHRAICRPMLAYRH
  GSGAHWNRPVLVAWAFSLLLSLPQLFIFAQRNVEGGSGVTDCWACFAEPWGRRTYVTWIALMVFVAPTLGIAACQ
  VLIFREIHASLVPGPSERPGGRRRGRRTGSPGEGAHVSAAVAKTVRMTLVIVVVYVLCWAPFFLVQLWAAWDPEA
  PLEGAPFVLLMLLASLNSCTNPWIYASFSSSVSSELRSLLCCARGRTPPSLGPQDESCTTASSSLAKDTSS

• Structural information:
  • Interpro: IPR000276  IPR017452  IPR001817  IPR000161  
  • Prosite: PS00237 PS50262
  • PDB: 4JQI 6NI2
  • PDBsum: 4JQI 6NI2
  • STRING: ENSP00000351805
• Other Databases: GeneCards:  AVPR2  Malacards:  AVPR2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0005000	vasopressin receptor activity	IDA	molecular function
GO:0005768	endosome	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0048471	perinuclear region of cytoplasm	IDA	cellular component
GO:0030139	endocytic vesicle	IDA	cellular component
GO:0005000	vasopressin receptor activity	IBA	molecular function
GO:0001992	regulation of systemic arterial blood pressure by vasopressin	IBA	biological process
GO:0045907	positive regulation of vasoconstriction	IBA	biological process
GO:0042277	peptide binding	IBA	molecular function
GO:0032870	cellular response to hormone stimulus	IBA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	IBA	biological process
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0004930	G protein-coupled receptor activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005000	vasopressin receptor activity	IEA	molecular function
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007190	activation of adenylate cyclase activity	TAS	biological process
GO:0005768	endosome	TAS	cellular component
GO:0005783	endoplasmic reticulum	TAS	cellular component
GO:0005794	Golgi apparatus	TAS	cellular component
GO:0007188	adenylate cyclase-modulating G protein-coupled receptor signaling pathway	TAS	biological process
GO:0007588	excretion	TAS	biological process
GO:0007599	hemostasis	TAS	biological process
GO:0003091	renal water homeostasis	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0035814	negative regulation of renal sodium excretion	IEA	biological process
GO:0003084	positive regulation of systemic arterial blood pressure	IEA	biological process
GO:0007249	I-kappaB kinase/NF-kappaB signaling	IEA	biological process
GO:0045777	positive regulation of blood pressure	IEA	biological process
GO:0035811	negative regulation of urine volume	IEA	biological process
GO:0021537	telencephalon development	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0034097	response to cytokine	IEA	biological process
GO:0032609	interferon-gamma production	IEA	biological process
GO:0031398	positive regulation of protein ubiquitination	NAS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0016021	integral component of membrane	NAS	cellular component
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0005000	vasopressin receptor activity	TAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction
hsa04072	Phospholipase D signaling pathway
hsa04962	Vasopressin-regulated water reabsorption

Diseases

Associated diseases	References
Congenital nephrogenic diabetes insipidus	KEGG:H00252
Nephrogenic syndrome of inappropriate antidiuresis	KEGG:H01294
Syndrome of inappropriate secretion of antidiuretic hormone	KEGG:H01682
Disorders of antidiuretic hormone	KEGG:H01683
Congenital nephrogenic diabetes insipidus	KEGG:H00252
Nephrogenic syndrome of inappropriate antidiuresis	KEGG:H01294
Syndrome of inappropriate secretion of antidiuretic hormone	KEGG:H01682
Disorders of antidiuretic hormone	KEGG:H01683
nephrogenic diabetes insipidus	PMID:17020465
nephrogenic diabetes insipidus	PMID:19816050
nephrogenic diabetes insipidus	PMID:18489790
nephrogenic diabetes insipidus	PMID:17941907
nephrogenic diabetes insipidus	PMID:17371330
nephrogenic diabetes insipidus	PMID:17550212
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881