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P30518 (V2R_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 154. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (7) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Vasopressin V2 receptor

Short name=V2R
Alternative name(s):
AVPR V2
Antidiuretic hormone receptor
Renal-type arginine vasopressin receptor
Gene names
Name:AVPR2
Synonyms:ADHR, DIR, DIR3, V2R
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length371 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption. Ref.6

Subcellular location

Cell membrane; Multi-pass membrane protein.

Tissue specificity

Kidney.

Involvement in disease

Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) [MIM:300539]: Characterized by an inability to excrete a free water load, with inappropriately concentrated urine and resultant hyponatremia, hypoosmolarity, and natriuresis.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.34

Diabetes insipidus, nephrogenic, X-linked (XNDI) [MIM:304800]: A disorder caused by the inability of the renal collecting ducts to absorb water in response to arginine vasopressin. Characterized by excessive water drinking (polydipsia), excessive urine excretion (polyuria), persistent hypotonic urine, and hypokalemia.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.12 Ref.13 Ref.14 Ref.15 Ref.16 Ref.17 Ref.18 Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.27 Ref.28 Ref.29 Ref.30 Ref.31 Ref.32 Ref.33 Ref.35

Sequence similarities

Belongs to the G-protein coupled receptor 1 family. Vasopressin/oxytocin receptor subfamily.

Ontologies

Keywords
   Cellular componentCell membrane
Membrane
   Coding sequence diversityAlternative splicing
Polymorphism
   DiseaseDiabetes insipidus
Disease mutation
   DomainTransmembrane
Transmembrane helix
   Molecular functionG-protein coupled receptor
Receptor
Transducer
   PTMGlycoprotein
Lipoprotein
Palmitate
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processI-kappaB kinase/NF-kappaB signaling

Inferred from electronic annotation. Source: Ensembl

activation of adenylate cyclase activity

Traceable author statement Ref.11. Source: ProtInc

adenylate cyclase-modulating G-protein coupled receptor signaling pathway

Traceable author statement PubMed 10880054. Source: ProtInc

excretion

Traceable author statement Ref.14. Source: ProtInc

hemostasis

Traceable author statement PubMed 10880054. Source: ProtInc

interferon-gamma production

Inferred from electronic annotation. Source: Ensembl

negative regulation of renal sodium excretion

Inferred from electronic annotation. Source: Ensembl

negative regulation of urine volume

Inferred from electronic annotation. Source: Ensembl

positive regulation of cell proliferation

Inferred from electronic annotation. Source: Ensembl

positive regulation of gene expression

Inferred from sequence or structural similarity. Source: UniProtKB

positive regulation of protein ubiquitination

Non-traceable author statement PubMed 19372219. Source: BHF-UCL

positive regulation of systemic arterial blood pressure

Inferred from electronic annotation. Source: Ensembl

response to cytokine

Inferred from electronic annotation. Source: Ensembl

telencephalon development

Inferred from electronic annotation. Source: Ensembl

transmembrane transport

Traceable author statement. Source: Reactome

water transport

Traceable author statement. Source: Reactome

   Cellular_componentGolgi apparatus

Traceable author statement PubMed 10880054. Source: ProtInc

endoplasmic reticulum

Traceable author statement PubMed 10880054. Source: ProtInc

endosome

Traceable author statement PubMed 10858434. Source: ProtInc

integral component of membrane

Non-traceable author statement Ref.10. Source: UniProtKB

integral component of plasma membrane

Traceable author statement Ref.14. Source: ProtInc

plasma membrane

Traceable author statement. Source: Reactome

   Molecular_functionvasopressin receptor activity

Traceable author statement Ref.10. Source: UniProtKB

Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: P30518-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: P30518-2)

The sequence of this isoform differs from the canonical sequence as follows:
     305-309: APFVL → GCSRG
     310-371: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 371371Vasopressin V2 receptor
PRO_0000070208

Regions

Topological domain1 – 3838Extracellular Potential
Transmembrane39 – 6325Helical; Name=1; Potential
Topological domain64 – 7714Cytoplasmic Potential
Transmembrane78 – 9821Helical; Name=2; Potential
Topological domain99 – 11315Extracellular Potential
Transmembrane114 – 13522Helical; Name=3; Potential
Topological domain136 – 15924Cytoplasmic Potential
Transmembrane160 – 18021Helical; Name=4; Potential
Topological domain181 – 20020Extracellular Potential
Transmembrane201 – 22020Helical; Name=5; Potential
Topological domain221 – 27151Cytoplasmic Potential
Transmembrane272 – 29322Helical; Name=6; Potential
Topological domain294 – 30815Extracellular Potential
Transmembrane309 – 32820Helical; Name=7; Potential
Topological domain329 – 37143Cytoplasmic Potential

Amino acid modifications

Lipidation3411S-palmitoyl cysteine Ref.11
Lipidation3421S-palmitoyl cysteine Ref.11
Glycosylation221N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence305 – 3095APFVL → GCSRG in isoform 2.
VSP_036990
Alternative sequence310 – 37162Missing in isoform 2.
VSP_036991
Natural variant71T → S.
Corresponds to variant rs5196 [ dbSNP | Ensembl ].
VAR_003516
Natural variant121G → E.
Corresponds to variant rs2071126 [ dbSNP | Ensembl ].
VAR_015296
Natural variant421A → V.
Corresponds to variant rs5198 [ dbSNP | Ensembl ].
VAR_011858
Natural variant431L → P in XNDI. Ref.26
VAR_015297
Natural variant441L → P in XNDI. Ref.19
VAR_003517
Natural variant461I → K in XNDI. Ref.30
VAR_015298
Natural variant531L → R in XNDI.
VAR_015299
Natural variant551N → D in XNDI.
VAR_015300
Natural variant551N → H in XNDI.
VAR_015301
Natural variant591L → P in XNDI.
VAR_015302
Natural variant611A → V.
VAR_015303
Natural variant62 – 643Missing in XNDI.
VAR_003518
Natural variant621L → P in XNDI.
VAR_015304
Natural variant641R → W.
Corresponds to variant rs150351033 [ dbSNP | Ensembl ].
VAR_003519
Natural variant801H → R in XNDI. Ref.22
VAR_003520
Natural variant811L → F in XNDI.
VAR_015305
Natural variant831L → P in XNDI.
VAR_015306
Natural variant831L → Q in XNDI.
VAR_015307
Natural variant841A → D in XNDI.
VAR_015308
Natural variant851D → N in XNDI.
VAR_015309
Natural variant881V → M in XNDI.
VAR_003521
Natural variant921Q → R in XNDI.
VAR_015310
Natural variant941L → Q in XNDI.
VAR_015311
Natural variant951P → L in XNDI.
VAR_015312
Natural variant991W → R in XNDI.
VAR_015313
Natural variant1041R → C in XNDI; binding capacity is 10% of wild-type, but binding affinity is stronger than wild-type. Ref.32
VAR_015314
Natural variant1051F → V in XNDI. Ref.30
VAR_015315
Natural variant1061R → C in XNDI. Ref.33
VAR_003522
Natural variant1071G → E in XNDI. Ref.26
VAR_015316
Natural variant1121C → R in XNDI. Ref.28
VAR_003523
Natural variant1121C → Y in XNDI.
VAR_015317
Natural variant1131R → W in XNDI. Ref.16 Ref.23
Corresponds to variant rs28935496 [ dbSNP | Ensembl ].
VAR_003524
Natural variant1221G → D in XNDI. Ref.35
VAR_062591
Natural variant1221G → R in XNDI.
VAR_015318
Natural variant1231M → K in XNDI.
VAR_015319
Natural variant1261S → F in XNDI.
VAR_003525
Natural variant1271S → F in XNDI.
VAR_015320
Natural variant1281Y → S in XNDI. Ref.14 Ref.21
VAR_003526
Natural variant1301I → F in XNDI. Ref.30
VAR_015321
Natural variant1321A → D in XNDI. Ref.12
VAR_003527
Natural variant1351L → P in XNDI.
VAR_015322
Natural variant1371R → C in NSIAD; constitutively active. Ref.34
VAR_025901
Natural variant1371R → H in XNDI; fails to activate the adenylyl cyclase system. Ref.17 Ref.27 Ref.29 Ref.35
VAR_003528
Natural variant1371R → L in NSIAD; constitutively active. Ref.34
VAR_025902
Natural variant1391R → S.
VAR_015323
Natural variant1431R → P in XNDI. Ref.15 Ref.25
VAR_003529
Natural variant1471A → V.
Corresponds to variant rs5200 [ dbSNP | Ensembl ].
VAR_003530
Natural variant1631A → P in XNDI.
VAR_015324
Natural variant1641W → S in XNDI.
VAR_003531
Natural variant1671S → L in XNDI.
VAR_003532
Natural variant1671S → T in XNDI. Ref.19
VAR_003533
Natural variant1731P → S in XNDI.
VAR_015325
Natural variant1741Q → L in XNDI.
VAR_015326
Natural variant1811R → C in XNDI. Ref.14 Ref.29
VAR_003534
Natural variant1851G → C in XNDI. Ref.13
VAR_003535
Natural variant1911D → G in XNDI.
VAR_015327
Natural variant2011G → D in XNDI.
VAR_015328
Natural variant2021R → C in XNDI. Ref.25
VAR_003536
Natural variant2031R → C in XNDI. Ref.13
VAR_003537
Natural variant2041T → N in XNDI. Ref.31
VAR_015329
Natural variant2051Y → C in XNDI. Ref.13 Ref.31
VAR_003538
Natural variant2061V → D in XNDI. Ref.31
VAR_015330
Natural variant2071T → N in XNDI.
VAR_015331
Natural variant2091I → F in XNDI.
VAR_015332
Natural variant2141F → S in XNDI.
VAR_015333
Natural variant2151V → M.
VAR_015334
Natural variant2171P → T in XNDI.
VAR_015335
Natural variant2191L → P in XNDI.
VAR_015336
Natural variant2191L → R in XNDI.
VAR_015337
Natural variant247 – 2504Missing in XNDI.
VAR_003539
Natural variant2471R → H in a breast cancer sample; somatic mutation. Ref.36
VAR_035769
Natural variant2521R → W.
Corresponds to variant rs61733407 [ dbSNP | Ensembl ].
VAR_015338
Natural variant2721M → K in XNDI.
VAR_015339
Natural variant2771V → A in XNDI.
VAR_015340
Natural variant2771Missing in CDNI. Ref.15 Ref.21 Ref.25 Ref.27
VAR_003540
Natural variant2801Y → C in XNDI. Ref.20 Ref.24
VAR_003541
Natural variant2821L → P in XNDI.
VAR_015341
Natural variant2851A → P in CDNI.
VAR_003542
Natural variant2861P → L in XNDI. Ref.21
VAR_003543
Natural variant2861P → R in XNDI. Ref.14
VAR_003544
Natural variant2861P → S in XNDI.
VAR_015342
Natural variant2871F → L in XNDI. Ref.33
VAR_015343
Natural variant2891L → P in XNDI.
VAR_015344
Natural variant2921L → P in XNDI. Ref.20
VAR_003545
Natural variant2941A → P in XNDI.
VAR_015345
Natural variant3091L → P in XNDI. Ref.27
VAR_003546
Natural variant3091L → R in XNDI.
VAR_015346
Natural variant3151S → R in XNDI.
VAR_015347
Natural variant3171N → K in XNDI. Ref.28
VAR_003547
Natural variant3181S → T.
VAR_015348
Natural variant3191C → R in XNDI.
VAR_015349
Natural variant3211N → D in XNDI.
VAR_015350
Natural variant3211N → K in XNDI.
VAR_015351
Natural variant3211N → Y in XNDI.
VAR_015352
Natural variant3221P → H in XNDI.
VAR_015353
Natural variant3221P → S in XNDI. Ref.26
VAR_015354
Natural variant3231W → R in XNDI.
VAR_015355
Natural variant3231W → S in XNDI. Ref.28
VAR_003548
Natural variant3521G → D.
VAR_015356

Experimental info

Mutagenesis3411C → S: Reduced palmitoylation, reduced cell surface localization but coupling to G protein unaffected. Ref.11
Mutagenesis3421C → S: Reduced palmitoylation, reduced cell surface localization but coupling to G protein unaffected. Ref.11

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 1, 1993. Version 1.
Checksum: 1F87D20A3C0ECB0D

FASTA37140,279
        10         20         30         40         50         60 
MLMASTTSAV PGHPSLPSLP SNSSQERPLD TRDPLLARAE LALLSIVFVA VALSNGLVLA 

        70         80         90        100        110        120 
ALARRGRRGH WAPIHVFIGH LCLADLAVAL FQVLPQLAWK ATDRFRGPDA LCRAVKYLQM 

       130        140        150        160        170        180 
VGMYASSYMI LAMTLDRHRA ICRPMLAYRH GSGAHWNRPV LVAWAFSLLL SLPQLFIFAQ 

       190        200        210        220        230        240 
RNVEGGSGVT DCWACFAEPW GRRTYVTWIA LMVFVAPTLG IAACQVLIFR EIHASLVPGP 

       250        260        270        280        290        300 
SERPGGRRRG RRTGSPGEGA HVSAAVAKTV RMTLVIVVVY VLCWAPFFLV QLWAAWDPEA 

       310        320        330        340        350        360 
PLEGAPFVLL MLLASLNSCT NPWIYASFSS SVSSELRSLL CCARGRTPPS LGPQDESCTT 

       370 
ASSSLAKDTS S 

« Hide

Isoform 2 [UniParc].

Checksum: CAB6A8B0A682ED0F
Show »

FASTA30933,743

References

« Hide 'large scale' references
[1]"Structure and chromosomal localization of the human antidiuretic hormone receptor gene."
Seibold A., Brabet P., Rosenthal W., Birnbaumer M.
Am. J. Hum. Genet. 51:1078-1083(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[2]"Molecular cloning of the receptor for human antidiuretic hormone."
Birnbaumer M., Seibold A., Gilbert S., Ishido M., Barberis C., Antaramian A., Brabet P., Rosenthal W.
Nature 357:333-335(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Kidney.
[3]"Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus."
Wildin R.S., Antush M.J., Bennett R.L., Schoof J.M., Scott C.R.
Am. J. Hum. Genet. 55:266-277(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
[4]"Evidence for expression of vasopressin V2 receptor mRNA in human lung."
Fay M.J., Du J., Yu X., North W.G.
Peptides 17:477-481(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Lung.
[5]"Expression of all known vasopressin receptor subtypes by small cell tumors implies a multifaceted role for this neuropeptide."
North W.G., Fay M.J., Longo K.A., Du J.
Cancer Res. 58:1866-1871(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
Tissue: Lung carcinoma and Mammary cancer.
[6]"Involvement of the V2 vasopressin receptor in adaptation to limited water supply."
Boselt I., Rompler H., Hermsdorf T., Thor D., Busch W., Schulz A., Schoneberg T.
PLoS ONE 4:E5573-E5573(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], FUNCTION.
[7]"cDNA clones of human proteins involved in signal transduction sequenced by the Guthrie cDNA resource center (www.cdna.org)."
Warren C.N., Aronstam R.S., Sharma S.V.
Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Kidney.
[8]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Brain.
[10]"Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus."
Oksche A., Moeller A., Dickson J., Rosendahl W., Rascher W., Bichet D.G., Rosenthal W.
Hum. Genet. 98:587-589(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 307-371.
[11]"Palmitoylation of the V2 vasopressin receptor."
Sadeghi H.M., Innamorati G., Dagarag M., Birnbaumer M.
Mol. Pharmacol. 52:21-29(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: PALMITOYLATION AT CYS-341 AND CYS-342, MUTAGENESIS OF CYS-341 AND CYS-342.
[12]"Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus."
Rosenthal W., Seibold A., Antaramian A., Lonergan M., Arthus M.-F., Hendy G.N., Birnbaumer M., Bichet D.G.
Nature 359:233-235(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XNDI ASP-132.
[13]"Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus."
van den Ouweland A.M.W., Dreesen J.C.F.M., Verdijk M., Knoers N.V.A.M., Monnens L.A.H., Rocchi M., van Oost B.A.
Nat. Genet. 2:99-102(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XNDI CYS-185; CYS-203 AND CYS-205.
[14]"Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus."
Pan Y., Metzenberg A., Das S., Jing B., Gitschier J.
Nat. Genet. 2:103-106(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XNDI SER-128; CYS-181; ARG-286 AND 247-ARG--GLY-250 DEL.
[15]"Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus."
Tsukaguchi H., Matsubara H., Aritaki S., Kimura T., Abe S., Inada M.
Biochem. Biophys. Res. Commun. 197:1000-1010(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XNDI PRO-143 AND VAL-277 DEL.
[16]"A molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus."
Holtzman E.J., Harris H.W. Jr., Kolakowski L.F. Jr., Guay-Woodford L.M., Botelho B., Ausiello D.A.
N. Engl. J. Med. 328:1534-1537(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XNDI TRP-113.
[17]"Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase."
Rosenthal W., Antaramian A., Gilbert S., Birnbaumer M.
J. Biol. Chem. 268:13030-13033(1993) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XNDI HIS-137.
[18]"Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus."
Bichet D.G., Birnbaumer M., Lonergan M., Arthus M.-F., Rosenthal W., Goodyer P., Nivet H., Benoit S., Giampietro P., Simonetti S., Fish A., Whitley C.B., Jaeger P., Gertner J., New M., Dibona F.J., Kaplan B.S., Robertson G.L. expand/collapse author list , Hendy G.N., Fujiwara T.M., Morgan K.
Am. J. Hum. Genet. 55:278-286(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XNDI.
[19]"Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus."
Oksche A., Dickson J., Schuelein R., Hansjoerg W.S., Mueller M., Rascher W., Birnbaumer M., Rosenthal W.
Biochem. Biophys. Res. Commun. 205:552-557(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XNDI PRO-44 AND THR-167.
[20]"Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus."
Wenkert D., Merendino J.J. Jr., Shenker A., Thambi N., Robertson G.L., Moses A.M., Spiegel A.M.
Hum. Mol. Genet. 3:1429-1430(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XNDI CYS-280 AND PRO-292.
[21]"Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus."
Faa V., Ventruto M.L., Loche S., Bozzola M., Podda R., Cao A., Rosatelli M.C.
Hum. Mol. Genet. 3:1685-1686(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XNDI SER-128; VAL-277 DEL AND LEU-286.
[22]"Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus."
Yuasa H., Ito M., Oiso Y., Kurokawa M., Watanabe T., Oda Y., Ishizuka T., Tani N., Ito S., Shibata A., Saito H.
J. Clin. Endocrinol. Metab. 79:361-365(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XNDI ARG-80.
[23]"An extracellular congenital nephrogenic diabetes insipidus mutation of the vasopressin receptor reduces cell surface expression, affinity for ligand, and coupling to the Gs/adenylyl cyclase system."
Birnbaumer M., Gilbert S., Rosenthal W.
Mol. Endocrinol. 8:886-894(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XNDI TRP-113.
[24]"Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal."
Friedman E., Bale A.E., Carson E., Boson W.L., Nordenskjoeld M., Ritzen M., Ferriera P.C., Jammal A., De Marco L.
Proc. Natl. Acad. Sci. U.S.A. 91:8457-8461(1994) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XNDI CYS-280.
[25]"Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus."
Tsukaguchi H., Matsubara H., Taketani S., Mori Y., Seido T., Inada M.
J. Clin. Invest. 96:2043-2050(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XNDI PRO-143; CYS-202 AND VAL-277 DEL.
[26]"Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus."
Vargas-Poussou R., Forestier L., Dautzenberg M.D., Niaudet P., Dechaux M., Antignac C.
J. Am. Soc. Nephrol. 8:1855-1862(1997) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XNDI PRO-43; GLU-107 AND SER-322.
[27]"Mutational analyses of AVPR2 gene in three Japanese families with X-linked nephrogenic diabetes insipidus: two recurrent mutations, R137H and deltaV278, caused by the hypermutability at CpG dinucleotides."
Shoji Y., Takahashi T., Suzuki Y., Suzuki T., Komatsu K., Hirono H., Shoji Y., Yokoyama T., Kito H., Takada G.
Hum. Mutat. Suppl. 1:S278-S283(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XNDI HIS-137; VAL-277 DEL AND PRO-309.
[28]"C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus."
Szalai C., Triga D., Czinner A.
Hum. Mutat. 12:137-138(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XNDI ARG-112; LYS-317 AND SER-323.
[29]"V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms."
Schoeneberg T., Schulz A., Biebermann H., Grueters A., Grimm T., Huebschmann K., Filler G., Gudermann T., Schultz G.
Hum. Mutat. 12:196-205(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XNDI HIS-137 AND CYS-181.
[30]"Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families."
Pasel K., Schulz A., Timmermann K., Linnemann K., Hoeltzenbein M., Jaaskelainen J., Gruters A., Filler G., Schoneberg T.
J. Clin. Endocrinol. Metab. 85:1703-1710(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XNDI LYS-46; VAL-105 AND PHE-130.
[31]"Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congenital nephrogenic diabetes insipidus."
Postina R., Ufer E., Pfeiffer R., Knoers N.V., Fahrenholz F.
Mol. Cell. Endocrinol. 164:31-39(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: CHARACTERIZATION OF VARIANTS XNDI ASN-204; CYS-205 AND ASP-206.
[32]"The property of a novel V2 receptor mutant in a patient with nephrogenic diabetes insipidus."
Inaba S., Hatakeyama H., Taniguchi N., Miyamori I.
J. Clin. Endocrinol. Metab. 86:381-385(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT XNDI CYS-104.
[33]"Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients."
Chen C.H., Chen W.Y., Liu H.L., Liu T.T., Tsou A.P., Lin C.Y., Chao T., Qi Y., Hsiao K.J.
J. Hum. Genet. 47:66-73(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XNDI CYS-106 AND LEU-287.
[34]"Nephrogenic syndrome of inappropriate antidiuresis."
Feldman B.J., Rosenthal S.M., Vargas G.A., Fenwick R.G., Huang E.A., Matsuda-Abedini M., Lustig R.H., Mathias R.S., Portale A.A., Miller W.L., Gitelman S.E.
N. Engl. J. Med. 352:1884-1890(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS NSIAD CYS-137 AND LEU-137.
[35]"Novel mutations underlying nephrogenic diabetes insipidus in Arab families."
Carroll P., Al-Mojalli H., Al-Abbad A., Al-Hassoun I., Al-Hamed M., Al-Amr R., Butt A.I., Meyer B.F.
Genet. Med. 8:443-447(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS XNDI ASP-122 AND HIS-137.
[36]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-247.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
L22206 Genomic DNA. Translation: AAA03651.1.
Z11687 mRNA. Translation: CAA77746.1.
U04357 Genomic DNA. Translation: AAC09005.1.
AF030626 mRNA. Translation: AAB86428.1.
AF101727 mRNA. Translation: AAD16444.1.
AF032388 mRNA. Translation: AAB87678.1.
AY242131 mRNA. Translation: AAO92298.1.
FJ411207 Genomic DNA. Translation: ACR39021.1.
CH471172 Genomic DNA. Translation: EAW72783.1.
CH471172 Genomic DNA. Translation: EAW72784.1.
CH471172 Genomic DNA. Translation: EAW72785.1.
BC101484 mRNA. Translation: AAI01485.1.
BC112181 mRNA. Translation: AAI12182.1.
PIRI51865.
RefSeqNP_000045.1. NM_000054.4.
NP_001139623.1. NM_001146151.1.
UniGeneHs.567240.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
4JQIX-ray2.60V343-371[»]
ProteinModelPortalP30518.
SMRP30518. Positions 41-364.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107035. 14 interactions.
STRING9606.ENSP00000338072.

Chemistry

BindingDBP30518.
ChEMBLCHEMBL1790.
DrugBankDB00872. Conivaptan.
DB02638. Terlipressin.
DB00067. Vasopressin.
GuidetoPHARMACOLOGY368.

Protein family/group databases

TCDB9.A.14.10.3. the g-protein-coupled receptor (gpcr) family.
GPCRDBSearch...

PTM databases

PhosphoSiteP30518.

Polymorphism databases

DMDM267256.

Proteomic databases

PaxDbP30518.
PRIDEP30518.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000337474; ENSP00000338072; ENSG00000126895. [P30518-1]
ENST00000358927; ENSP00000351805; ENSG00000126895. [P30518-1]
ENST00000370049; ENSP00000359066; ENSG00000126895. [P30518-2]
ENST00000594580; ENSP00000472736; ENSG00000269623. [P30518-1]
ENST00000596997; ENSP00000469472; ENSG00000269623. [P30518-1]
ENST00000600700; ENSP00000471978; ENSG00000269623. [P30518-2]
GeneID554.
KEGGhsa:554.
UCSCuc004fjh.4. human. [P30518-1]
uc004fji.3. human. [P30518-2]

Organism-specific databases

CTD554.
GeneCardsGC0XP153167.
HGNCHGNC:897. AVPR2.
HPAHPA046678.
MIM300538. gene.
300539. phenotype.
304800. phenotype.
neXtProtNX_P30518.
Orphanet83449. Inappropriate antidiuretic hormone secretion syndrome.
223. Nephrogenic diabetes insipidus.
93606. Nephrogenic syndrome of inappropriate antidiuresis.
PharmGKBPA25189.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG299951.
HOGENOMHOG000237331.
HOVERGENHBG105710.
InParanoidP30518.
KOK04228.
OMAGGARWNR.
PhylomeDBP30518.
TreeFamTF106499.

Enzyme and pathway databases

ReactomeREACT_111102. Signal Transduction.
REACT_15518. Transmembrane transport of small molecules.
SignaLinkP30518.

Gene expression databases

ArrayExpressP30518.
BgeeP30518.
CleanExHS_AVPR2.
GenevestigatorP30518.

Family and domain databases

Gene3D1.20.1070.10. 1 hit.
InterProIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001817. Vasoprsn_rcpt.
IPR000161. Vprsn_rcpt_V2.
[Graphical view]
PfamPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSPR00237. GPCRRHODOPSN.
PR00896. VASOPRESSINR.
PR00898. VASOPRSNV2R.
PROSITEPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiArginine_vasopressin_receptor_2.
GenomeRNAi554.
NextBio2289.
PROP30518.
SOURCESearch...

Entry information

Entry nameV2R_HUMAN
AccessionPrimary (citable) accession number: P30518
Secondary accession number(s): C5HF20 expand/collapse secondary AC list , O43192, Q3MJD3, Q9UCV9
Entry history
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: April 1, 1993
Last modified: April 16, 2014
This is version 154 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM

7-transmembrane G-linked receptors

List of 7-transmembrane G-linked receptor entries