P30518 (V2R_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended 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

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	371 AA.
Sequence status	Complete.
Protein existence	Evidence 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 (polydypsia), 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 component	Cell membrane Membrane
Coding sequence diversity	Alternative splicing Polymorphism
Disease	Diabetes insipidus Disease mutation
Domain	Transmembrane Transmembrane helix
Molecular function	G-protein coupled receptor Receptor Transducer
PTM	Glycoprotein Lipoprotein Palmitate
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	I-kappaB kinase/NF-kappaB cascade Inferred from electronic annotation. Source: Compara 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: Compara negative regulation of renal sodium excretion Inferred from electronic annotation. Source: Compara negative regulation of urine volume Inferred from electronic annotation. Source: Compara positive regulation of cell proliferation Inferred from electronic annotation. Source: Compara 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: Compara response to cytokine stimulus Inferred from electronic annotation. Source: Compara telencephalon development Inferred from electronic annotation. Source: Compara transmembrane transport Traceable author statement. Source: Reactome water transport Traceable author statement. Source: Reactome
Cellular_component	Golgi 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 to plasma membrane Traceable author statement Ref.14. Source: ProtInc
Molecular_function	vasopressin 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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 371	371	Vasopressin V2 receptor		PRO_0000070208
Regions
	Topological domain	1 – 38	38	Extracellular Potential
	Transmembrane	39 – 63	25	Helical; Name=1; Potential
	Topological domain	64 – 77	14	Cytoplasmic Potential
	Transmembrane	78 – 98	21	Helical; Name=2; Potential
	Topological domain	99 – 113	15	Extracellular Potential
	Transmembrane	114 – 135	22	Helical; Name=3; Potential
	Topological domain	136 – 159	24	Cytoplasmic Potential
	Transmembrane	160 – 180	21	Helical; Name=4; Potential
	Topological domain	181 – 200	20	Extracellular Potential
	Transmembrane	201 – 220	20	Helical; Name=5; Potential
	Topological domain	221 – 271	51	Cytoplasmic Potential
	Transmembrane	272 – 293	22	Helical; Name=6; Potential
	Topological domain	294 – 308	15	Extracellular Potential
	Transmembrane	309 – 328	20	Helical; Name=7; Potential
	Topological domain	329 – 371	43	Cytoplasmic Potential
Amino acid modifications
	Lipidation	341	1	S-palmitoyl cysteine Ref.11
	Lipidation	342	1	S-palmitoyl cysteine Ref.11
	Glycosylation	22	1	N-linked (GlcNAc...) Potential
Natural variations
	Alternative sequence	305 – 309	5	APFVL → GCSRG in isoform 2.		VSP_036990
	Alternative sequence	310 – 371	62	Missing in isoform 2.		VSP_036991
	Natural variant	7	1	T → S. Corresponds to variant rs5196 [ dbSNP | Ensembl ].		VAR_003516
	Natural variant	12	1	G → E. Corresponds to variant rs2071126 [ dbSNP | Ensembl ].		VAR_015296
	Natural variant	42	1	A → V. Corresponds to variant rs5198 [ dbSNP | Ensembl ].		VAR_011858
	Natural variant	43	1	L → P in XNDI. Ref.26		VAR_015297
	Natural variant	44	1	L → P in XNDI. Ref.19		VAR_003517
	Natural variant	46	1	I → K in XNDI. Ref.30		VAR_015298
	Natural variant	53	1	L → R in XNDI.		VAR_015299
	Natural variant	55	1	N → D in XNDI.		VAR_015300
	Natural variant	55	1	N → H in XNDI.		VAR_015301
	Natural variant	59	1	L → P in XNDI.		VAR_015302
	Natural variant	61	1	A → V.		VAR_015303
	Natural variant	62 – 64	3	Missing in XNDI.		VAR_003518
	Natural variant	62	1	L → P in XNDI.		VAR_015304
	Natural variant	64	1	R → W.		VAR_003519
	Natural variant	80	1	H → R in XNDI. Ref.22		VAR_003520
	Natural variant	81	1	L → F in XNDI.		VAR_015305
	Natural variant	83	1	L → P in XNDI.		VAR_015306
	Natural variant	83	1	L → Q in XNDI.		VAR_015307
	Natural variant	84	1	A → D in XNDI.		VAR_015308
	Natural variant	85	1	D → N in XNDI.		VAR_015309
	Natural variant	88	1	V → M in XNDI.		VAR_003521
	Natural variant	92	1	Q → R in XNDI.		VAR_015310
	Natural variant	94	1	L → Q in XNDI.		VAR_015311
	Natural variant	95	1	P → L in XNDI.		VAR_015312
	Natural variant	99	1	W → R in XNDI.		VAR_015313
	Natural variant	104	1	R → C in XNDI; binding capacity is 10% of wild-type, but binding affinity is stronger than wild-type. Ref.32		VAR_015314
	Natural variant	105	1	F → V in XNDI. Ref.30		VAR_015315
	Natural variant	106	1	R → C in XNDI. Ref.33		VAR_003522
	Natural variant	107	1	G → E in XNDI. Ref.26		VAR_015316
	Natural variant	112	1	C → R in XNDI. Ref.28		VAR_003523
	Natural variant	112	1	C → Y in XNDI.		VAR_015317
	Natural variant	113	1	R → W in XNDI. Ref.16 Ref.23 Corresponds to variant rs28935496 [ dbSNP | Ensembl ].		VAR_003524
	Natural variant	122	1	G → D in XNDI. Ref.35		VAR_062591
	Natural variant	122	1	G → R in XNDI.		VAR_015318
	Natural variant	123	1	M → K in XNDI.		VAR_015319
	Natural variant	126	1	S → F in XNDI.		VAR_003525
	Natural variant	127	1	S → F in XNDI.		VAR_015320
	Natural variant	128	1	Y → S in XNDI. Ref.14 Ref.21		VAR_003526
	Natural variant	130	1	I → F in XNDI. Ref.30		VAR_015321
	Natural variant	132	1	A → D in XNDI. Ref.12		VAR_003527
	Natural variant	135	1	L → P in XNDI.		VAR_015322
	Natural variant	137	1	R → C in NSIAD; constitutively active. Ref.34		VAR_025901
	Natural variant	137	1	R → H in XNDI; fails to activate the adenylyl cyclase system. Ref.17 Ref.27 Ref.29 Ref.35		VAR_003528
	Natural variant	137	1	R → L in NSIAD; constitutively active. Ref.34		VAR_025902
	Natural variant	139	1	R → S.		VAR_015323
	Natural variant	143	1	R → P in XNDI. Ref.15 Ref.25		VAR_003529
	Natural variant	147	1	A → V. Corresponds to variant rs5200 [ dbSNP | Ensembl ].		VAR_003530
	Natural variant	163	1	A → P in XNDI.		VAR_015324
	Natural variant	164	1	W → S in XNDI.		VAR_003531
	Natural variant	167	1	S → L in XNDI.		VAR_003532
	Natural variant	167	1	S → T in XNDI. Ref.19		VAR_003533
	Natural variant	173	1	P → S in XNDI.		VAR_015325
	Natural variant	174	1	Q → L in XNDI.		VAR_015326
	Natural variant	181	1	R → C in XNDI. Ref.14 Ref.29		VAR_003534
	Natural variant	185	1	G → C in XNDI. Ref.13		VAR_003535
	Natural variant	191	1	D → G in XNDI.		VAR_015327
	Natural variant	201	1	G → D in XNDI.		VAR_015328
	Natural variant	202	1	R → C in XNDI. Ref.25		VAR_003536
	Natural variant	203	1	R → C in XNDI. Ref.13		VAR_003537
	Natural variant	204	1	T → N in XNDI. Ref.31		VAR_015329
	Natural variant	205	1	Y → C in XNDI. Ref.13 Ref.31		VAR_003538
	Natural variant	206	1	V → D in XNDI. Ref.31		VAR_015330
	Natural variant	207	1	T → N in XNDI.		VAR_015331
	Natural variant	209	1	I → F in XNDI.		VAR_015332
	Natural variant	214	1	F → S in XNDI.		VAR_015333
	Natural variant	215	1	V → M.		VAR_015334
	Natural variant	217	1	P → T in XNDI.		VAR_015335
	Natural variant	219	1	L → P in XNDI.		VAR_015336
	Natural variant	219	1	L → R in XNDI.		VAR_015337
	Natural variant	247 – 250	4	Missing in XNDI.		VAR_003539
	Natural variant	247	1	R → H in a breast cancer sample; somatic mutation. Ref.36		VAR_035769
	Natural variant	252	1	R → W.		VAR_015338
	Natural variant	272	1	M → K in XNDI.		VAR_015339
	Natural variant	277	1	V → A in XNDI.		VAR_015340
	Natural variant	277	1	Missing in CDNI. Ref.15 Ref.21 Ref.25 Ref.27		VAR_003540
	Natural variant	280	1	Y → C in XNDI. Ref.20 Ref.24		VAR_003541
	Natural variant	282	1	L → P in XNDI.		VAR_015341
	Natural variant	285	1	A → P in CDNI.		VAR_003542
	Natural variant	286	1	P → L in XNDI. Ref.21		VAR_003543
	Natural variant	286	1	P → R in XNDI. Ref.14		VAR_003544
	Natural variant	286	1	P → S in XNDI.		VAR_015342
	Natural variant	287	1	F → L in XNDI. Ref.33		VAR_015343
	Natural variant	289	1	L → P in XNDI.		VAR_015344
	Natural variant	292	1	L → P in XNDI. Ref.20		VAR_003545
	Natural variant	294	1	A → P in XNDI.		VAR_015345
	Natural variant	309	1	L → P in XNDI. Ref.27		VAR_003546
	Natural variant	309	1	L → R in XNDI.		VAR_015346
	Natural variant	315	1	S → R in XNDI.		VAR_015347
	Natural variant	317	1	N → K in XNDI. Ref.28		VAR_003547
	Natural variant	318	1	S → T.		VAR_015348
	Natural variant	319	1	C → R in XNDI.		VAR_015349
	Natural variant	321	1	N → D in XNDI.		VAR_015350
	Natural variant	321	1	N → K in XNDI.		VAR_015351
	Natural variant	321	1	N → Y in XNDI.		VAR_015352
	Natural variant	322	1	P → H in XNDI.		VAR_015353
	Natural variant	322	1	P → S in XNDI. Ref.26		VAR_015354
	Natural variant	323	1	W → R in XNDI.		VAR_015355
	Natural variant	323	1	W → S in XNDI. Ref.28		VAR_003548
	Natural variant	352	1	G → D.		VAR_015356
Experimental info
	Mutagenesis	341	1	C → S: Reduced palmitoylation, reduced cell surface localization but coupling to G protein unaffected. Ref.11
	Mutagenesis	342	1	C → S: Reduced palmitoylation, reduced cell surface localization but coupling to G protein unaffected. Ref.11

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 1, 1993. Version 1. Checksum: 1F87D20A3C0ECB0D	FASTA	371	40,279
	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
	Isoform 2 [UniParc]. Checksum: CAB6A8B0A682ED0F	FASTA	309	33,743
	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 PLEGGCSRG

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.

Web resources

Nephrogenic and neurogenic Diabetes Insipidus

AVPR2 pages

GeneReviews

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.
IPI	IPI00026823. IPI00640964.
PIR	I51865.
RefSeq	NP_000045.1. NM_000054.4. NP_001139623.1. NM_001146151.1.
UniGene	Hs.567240.
3D structure databases
ProteinModelPortal	P30518.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000338072.
Protein family/group databases
GPCRDB	Search...
PTM databases
PhosphoSite	P30518.
Polymorphism databases
DMDM	267256.
Proteomic databases
PaxDb	P30518.
PRIDE	P30518.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000337474; ENSP00000338072; ENSG00000126895. ENST00000358927; ENSP00000351805; ENSG00000126895. ENST00000370049; ENSP00000359066; ENSG00000126895. ENST00000594580; ENSP00000472736; ENSG00000269623. ENST00000596997; ENSP00000469472; ENSG00000269623. ENST00000600700; ENSP00000471978; ENSG00000269623.
GeneID	554.
KEGG	hsa:554.
UCSC	uc004fjh.4. human. uc004fji.3. human.
Organism-specific databases
CTD	554.
GeneCards	GC0XP153167.
HGNC	HGNC:897. AVPR2.
HPA	HPA046678.
MIM	300538. gene. 300539. phenotype. 304800. phenotype.
neXtProt	NX_P30518.
Orphanet	83449. Inappropriate antidiuretic hormone secretion syndrome. 223. Nephrogenic diabetes insipidus.
PharmGKB	PA25189.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG299951.
HOGENOM	HOG000237331.
HOVERGEN	HBG105710.
InParanoid	P30518.
KO	K04228.
OMA	GGARWNR.
OrthoDB	EOG412M60.
PhylomeDB	P30518.
Enzyme and pathway databases
Pathway_Interaction_DB	arf6_traffickingpathway. Arf6 trafficking events.
Reactome	REACT_111102. Signal Transduction. REACT_15518. Transmembrane transport of small molecules.
Gene expression databases
ArrayExpress	P30518.
Bgee	P30518.
CleanEx	HS_AVPR2.
Genevestigator	P30518.
GermOnline	ENSG00000126895. Homo sapiens.
Family and domain databases
InterPro	IPR000276. GPCR_Rhodpsn. IPR017452. GPCR_Rhodpsn_7TM. IPR001817. Vasoprsn_rcpt. IPR000161. Vprsn_rcpt_V2. [Graphical view]
Pfam	PF00001. 7tm_1. 1 hit. [Graphical view]
PRINTS	PR00237. GPCRRHODOPSN. PR00896. VASOPRESSINR. PR00898. VASOPRSNV2R.
PROSITE	PS00237. G_PROTEIN_RECEP_F1_1. 1 hit. PS50262. G_PROTEIN_RECEP_F1_2. 1 hit. [Graphical view]
ProtoNet	Search...
Other
BindingDB	P30518.
ChEMBL	CHEMBL1790.
DrugBank	DB00872. Conivaptan. DB02638. Terlipressin. DB00067. Vasopressin.
GenomeRNAi	554.
NextBio	2289.
SOURCE	Search...

Entry information

Entry name

V2R_HUMAN

Accession

Primary (citable) accession number: P30518
Secondary accession number(s): C5HF20 , O43192, Q3MJD3, Q9UCV9

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 1, 1993
Last sequence update:	April 1, 1993
Last modified:	May 1, 2013
This is version 143 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.