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P30518

- V2R_HUMAN

UniProt

P30518 - V2R_HUMAN

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Protein
Vasopressin V2 receptor
Gene
AVPR2, ADHR, DIR, DIR3, V2R
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at protein leveli

Functioni

Receptor for arginine vasopressin. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Involved in renal water reabsorption.1 Publication

GO - Molecular functioni

  1. protein binding Source: UniProt
  2. vasopressin receptor activity Source: UniProtKB
Complete GO annotation...

GO - Biological processi

  1. I-kappaB kinase/NF-kappaB signaling Source: Ensembl
  2. activation of adenylate cyclase activity Source: ProtInc
  3. adenylate cyclase-modulating G-protein coupled receptor signaling pathway Source: ProtInc
  4. excretion Source: ProtInc
  5. hemostasis Source: ProtInc
  6. interferon-gamma production Source: Ensembl
  7. negative regulation of renal sodium excretion Source: Ensembl
  8. negative regulation of urine volume Source: Ensembl
  9. positive regulation of cell proliferation Source: Ensembl
  10. positive regulation of gene expression Source: UniProtKB
  11. positive regulation of protein ubiquitination Source: BHF-UCL
  12. positive regulation of systemic arterial blood pressure Source: Ensembl
  13. response to cytokine Source: Ensembl
  14. telencephalon development Source: Ensembl
  15. transmembrane transport Source: Reactome
  16. water transport Source: Reactome
Complete GO annotation...

Keywords - Molecular functioni

G-protein coupled receptor, Receptor, Transducer

Enzyme and pathway databases

ReactomeiREACT_17041. Vasopressin-like receptors.
REACT_19327. G alpha (s) signalling events.
REACT_24023. Regulation of water balance by renal Aquaporins.
SignaLinkiP30518.

Protein family/group databases

TCDBi9.A.14.10.3. the g-protein-coupled receptor (gpcr) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Vasopressin V2 receptor
Short name:
V2R
Alternative name(s):
AVPR V2
Antidiuretic hormone receptor
Renal-type arginine vasopressin receptor
Gene namesi
Name:AVPR2
Synonyms:ADHR, DIR, DIR3, V2R
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome X

Organism-specific databases

HGNCiHGNC:897. AVPR2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 3838Extracellular Reviewed prediction
Add
BLAST
Transmembranei39 – 6325Helical; Name=1; Reviewed prediction
Add
BLAST
Topological domaini64 – 7714Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei78 – 9821Helical; Name=2; Reviewed prediction
Add
BLAST
Topological domaini99 – 11315Extracellular Reviewed prediction
Add
BLAST
Transmembranei114 – 13522Helical; Name=3; Reviewed prediction
Add
BLAST
Topological domaini136 – 15924Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei160 – 18021Helical; Name=4; Reviewed prediction
Add
BLAST
Topological domaini181 – 20020Extracellular Reviewed prediction
Add
BLAST
Transmembranei201 – 22020Helical; Name=5; Reviewed prediction
Add
BLAST
Topological domaini221 – 27151Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei272 – 29322Helical; Name=6; Reviewed prediction
Add
BLAST
Topological domaini294 – 30815Extracellular Reviewed prediction
Add
BLAST
Transmembranei309 – 32820Helical; Name=7; Reviewed prediction
Add
BLAST
Topological domaini329 – 37143Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

  1. Golgi apparatus Source: ProtInc
  2. endoplasmic reticulum Source: ProtInc
  3. endosome Source: ProtInc
  4. integral component of membrane Source: UniProtKB
  5. integral component of plasma membrane Source: ProtInc
  6. plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cell membrane, Membrane

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti137 – 1371R → C in NSIAD; constitutively active. 1 Publication
VAR_025901
Natural varianti137 – 1371R → L in NSIAD; constitutively active. 1 Publication
VAR_025902
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.23 Publications
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti43 – 431L → P in XNDI. 1 Publication
VAR_015297
Natural varianti44 – 441L → P in XNDI. 1 Publication
VAR_003517
Natural varianti46 – 461I → K in XNDI. 1 Publication
VAR_015298
Natural varianti53 – 531L → R in XNDI.
VAR_015299
Natural varianti55 – 551N → D in XNDI.
VAR_015300
Natural varianti55 – 551N → H in XNDI.
VAR_015301
Natural varianti59 – 591L → P in XNDI.
VAR_015302
Natural varianti62 – 643Missing in XNDI.
VAR_003518
Natural varianti62 – 621L → P in XNDI.
VAR_015304
Natural varianti80 – 801H → R in XNDI. 1 Publication
VAR_003520
Natural varianti81 – 811L → F in XNDI.
VAR_015305
Natural varianti83 – 831L → P in XNDI.
VAR_015306
Natural varianti83 – 831L → Q in XNDI.
VAR_015307
Natural varianti84 – 841A → D in XNDI.
VAR_015308
Natural varianti85 – 851D → N in XNDI.
VAR_015309
Natural varianti88 – 881V → M in XNDI.
VAR_003521
Natural varianti92 – 921Q → R in XNDI.
VAR_015310
Natural varianti94 – 941L → Q in XNDI.
VAR_015311
Natural varianti95 – 951P → L in XNDI.
VAR_015312
Natural varianti99 – 991W → R in XNDI.
VAR_015313
Natural varianti104 – 1041R → C in XNDI; binding capacity is 10% of wild-type, but binding affinity is stronger than wild-type. 1 Publication
VAR_015314
Natural varianti105 – 1051F → V in XNDI. 1 Publication
VAR_015315
Natural varianti106 – 1061R → C in XNDI. 1 Publication
VAR_003522
Natural varianti107 – 1071G → E in XNDI. 1 Publication
VAR_015316
Natural varianti112 – 1121C → R in XNDI. 1 Publication
VAR_003523
Natural varianti112 – 1121C → Y in XNDI.
VAR_015317
Natural varianti113 – 1131R → W in XNDI. 2 Publications
Corresponds to variant rs28935496 [ dbSNP | Ensembl ].
VAR_003524
Natural varianti122 – 1221G → D in XNDI. 1 Publication
VAR_062591
Natural varianti122 – 1221G → R in XNDI.
VAR_015318
Natural varianti123 – 1231M → K in XNDI.
VAR_015319
Natural varianti126 – 1261S → F in XNDI.
VAR_003525
Natural varianti127 – 1271S → F in XNDI.
VAR_015320
Natural varianti128 – 1281Y → S in XNDI. 2 Publications
VAR_003526
Natural varianti130 – 1301I → F in XNDI. 1 Publication
VAR_015321
Natural varianti132 – 1321A → D in XNDI. 1 Publication
VAR_003527
Natural varianti135 – 1351L → P in XNDI.
VAR_015322
Natural varianti137 – 1371R → H in XNDI; fails to activate the adenylyl cyclase system. 4 Publications
VAR_003528
Natural varianti143 – 1431R → P in XNDI. 2 Publications
VAR_003529
Natural varianti163 – 1631A → P in XNDI.
VAR_015324
Natural varianti164 – 1641W → S in XNDI.
VAR_003531
Natural varianti167 – 1671S → L in XNDI.
VAR_003532
Natural varianti167 – 1671S → T in XNDI. 1 Publication
VAR_003533
Natural varianti173 – 1731P → S in XNDI.
VAR_015325
Natural varianti174 – 1741Q → L in XNDI.
VAR_015326
Natural varianti181 – 1811R → C in XNDI. 2 Publications
VAR_003534
Natural varianti185 – 1851G → C in XNDI. 1 Publication
VAR_003535
Natural varianti191 – 1911D → G in XNDI.
VAR_015327
Natural varianti201 – 2011G → D in XNDI.
VAR_015328
Natural varianti202 – 2021R → C in XNDI. 1 Publication
VAR_003536
Natural varianti203 – 2031R → C in XNDI. 1 Publication
VAR_003537
Natural varianti204 – 2041T → N in XNDI. 1 Publication
VAR_015329
Natural varianti205 – 2051Y → C in XNDI. 2 Publications
VAR_003538
Natural varianti206 – 2061V → D in XNDI. 1 Publication
VAR_015330
Natural varianti207 – 2071T → N in XNDI.
VAR_015331
Natural varianti209 – 2091I → F in XNDI.
VAR_015332
Natural varianti214 – 2141F → S in XNDI.
VAR_015333
Natural varianti217 – 2171P → T in XNDI.
VAR_015335
Natural varianti219 – 2191L → P in XNDI.
VAR_015336
Natural varianti219 – 2191L → R in XNDI.
VAR_015337
Natural varianti247 – 2504Missing in XNDI.
VAR_003539
Natural varianti272 – 2721M → K in XNDI.
VAR_015339
Natural varianti277 – 2771V → A in XNDI.
VAR_015340
Natural varianti280 – 2801Y → C in XNDI. 2 Publications
VAR_003541
Natural varianti282 – 2821L → P in XNDI.
VAR_015341
Natural varianti286 – 2861P → L in XNDI. 1 Publication
VAR_003543
Natural varianti286 – 2861P → R in XNDI. 1 Publication
VAR_003544
Natural varianti286 – 2861P → S in XNDI.
VAR_015342
Natural varianti287 – 2871F → L in XNDI. 1 Publication
VAR_015343
Natural varianti289 – 2891L → P in XNDI.
VAR_015344
Natural varianti292 – 2921L → P in XNDI. 1 Publication
VAR_003545
Natural varianti294 – 2941A → P in XNDI.
VAR_015345
Natural varianti309 – 3091L → P in XNDI. 1 Publication
VAR_003546
Natural varianti309 – 3091L → R in XNDI.
VAR_015346
Natural varianti315 – 3151S → R in XNDI.
VAR_015347
Natural varianti317 – 3171N → K in XNDI. 1 Publication
VAR_003547
Natural varianti319 – 3191C → R in XNDI.
VAR_015349
Natural varianti321 – 3211N → D in XNDI.
VAR_015350
Natural varianti321 – 3211N → K in XNDI.
VAR_015351
Natural varianti321 – 3211N → Y in XNDI.
VAR_015352
Natural varianti322 – 3221P → H in XNDI.
VAR_015353
Natural varianti322 – 3221P → S in XNDI. 1 Publication
VAR_015354
Natural varianti323 – 3231W → R in XNDI.
VAR_015355
Natural varianti323 – 3231W → S in XNDI. 1 Publication
VAR_003548

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi341 – 3411C → S: Reduced palmitoylation, reduced cell surface localization but coupling to G protein unaffected. 1 Publication
Mutagenesisi342 – 3421C → S: Reduced palmitoylation, reduced cell surface localization but coupling to G protein unaffected. 1 Publication

Keywords - Diseasei

Diabetes insipidus, Disease mutation

Organism-specific databases

MIMi300539. phenotype.
304800. phenotype.
Orphaneti83449. Inappropriate antidiuretic hormone secretion syndrome.
223. Nephrogenic diabetes insipidus.
93606. Nephrogenic syndrome of inappropriate antidiuresis.
PharmGKBiPA25189.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 371371Vasopressin V2 receptor
PRO_0000070208Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi22 – 221N-linked (GlcNAc...) Reviewed prediction
Lipidationi341 – 3411S-palmitoyl cysteine1 Publication
Lipidationi342 – 3421S-palmitoyl cysteine1 Publication

Keywords - PTMi

Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

PaxDbiP30518.
PRIDEiP30518.

PTM databases

PhosphoSiteiP30518.

Expressioni

Tissue specificityi

Kidney.

Gene expression databases

ArrayExpressiP30518.
BgeeiP30518.
CleanExiHS_AVPR2.
GenevestigatoriP30518.

Organism-specific databases

HPAiHPA046678.

Interactioni

Protein-protein interaction databases

BioGridi107035. 14 interactions.
STRINGi9606.ENSP00000338072.

Structurei

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4JQIX-ray2.60V343-371[»]
ProteinModelPortaliP30518.
SMRiP30518. Positions 41-364.

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG299951.
HOGENOMiHOG000237331.
HOVERGENiHBG105710.
InParanoidiP30518.
KOiK04228.
OMAiGGARWNR.
PhylomeDBiP30518.
TreeFamiTF106499.

Family and domain databases

Gene3Di1.20.1070.10. 1 hit.
InterProiIPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001817. Vasoprsn_rcpt.
IPR000161. Vprsn_rcpt_V2.
[Graphical view]
PfamiPF00001. 7tm_1. 1 hit.
[Graphical view]
PRINTSiPR00237. GPCRRHODOPSN.
PR00896. VASOPRESSINR.
PR00898. VASOPRSNV2R.
PROSITEiPS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P30518-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MLMASTTSAV PGHPSLPSLP SNSSQERPLD TRDPLLARAE LALLSIVFVA    50
VALSNGLVLA ALARRGRRGH WAPIHVFIGH LCLADLAVAL FQVLPQLAWK 100
ATDRFRGPDA LCRAVKYLQM VGMYASSYMI LAMTLDRHRA ICRPMLAYRH 150
GSGAHWNRPV LVAWAFSLLL SLPQLFIFAQ RNVEGGSGVT DCWACFAEPW 200
GRRTYVTWIA LMVFVAPTLG IAACQVLIFR EIHASLVPGP SERPGGRRRG 250
RRTGSPGEGA HVSAAVAKTV RMTLVIVVVY VLCWAPFFLV QLWAAWDPEA 300
PLEGAPFVLL MLLASLNSCT NPWIYASFSS SVSSELRSLL CCARGRTPPS 350
LGPQDESCTT ASSSLAKDTS S 371
Length:371
Mass (Da):40,279
Last modified:April 1, 1993 - v1
Checksum:i1F87D20A3C0ECB0D
GO
Isoform 2 (identifier: P30518-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:309
Mass (Da):33,743
Checksum:iCAB6A8B0A682ED0F
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti7 – 71T → S.
Corresponds to variant rs5196 [ dbSNP | Ensembl ].
VAR_003516
Natural varianti12 – 121G → E.
Corresponds to variant rs2071126 [ dbSNP | Ensembl ].
VAR_015296
Natural varianti42 – 421A → V.
Corresponds to variant rs5198 [ dbSNP | Ensembl ].
VAR_011858
Natural varianti43 – 431L → P in XNDI. 1 Publication
VAR_015297
Natural varianti44 – 441L → P in XNDI. 1 Publication
VAR_003517
Natural varianti46 – 461I → K in XNDI. 1 Publication
VAR_015298
Natural varianti53 – 531L → R in XNDI.
VAR_015299
Natural varianti55 – 551N → D in XNDI.
VAR_015300
Natural varianti55 – 551N → H in XNDI.
VAR_015301
Natural varianti59 – 591L → P in XNDI.
VAR_015302
Natural varianti61 – 611A → V.
VAR_015303
Natural varianti62 – 643Missing in XNDI.
VAR_003518
Natural varianti62 – 621L → P in XNDI.
VAR_015304
Natural varianti64 – 641R → W.
Corresponds to variant rs150351033 [ dbSNP | Ensembl ].
VAR_003519
Natural varianti80 – 801H → R in XNDI. 1 Publication
VAR_003520
Natural varianti81 – 811L → F in XNDI.
VAR_015305
Natural varianti83 – 831L → P in XNDI.
VAR_015306
Natural varianti83 – 831L → Q in XNDI.
VAR_015307
Natural varianti84 – 841A → D in XNDI.
VAR_015308
Natural varianti85 – 851D → N in XNDI.
VAR_015309
Natural varianti88 – 881V → M in XNDI.
VAR_003521
Natural varianti92 – 921Q → R in XNDI.
VAR_015310
Natural varianti94 – 941L → Q in XNDI.
VAR_015311
Natural varianti95 – 951P → L in XNDI.
VAR_015312
Natural varianti99 – 991W → R in XNDI.
VAR_015313
Natural varianti104 – 1041R → C in XNDI; binding capacity is 10% of wild-type, but binding affinity is stronger than wild-type. 1 Publication
VAR_015314
Natural varianti105 – 1051F → V in XNDI. 1 Publication
VAR_015315
Natural varianti106 – 1061R → C in XNDI. 1 Publication
VAR_003522
Natural varianti107 – 1071G → E in XNDI. 1 Publication
VAR_015316
Natural varianti112 – 1121C → R in XNDI. 1 Publication
VAR_003523
Natural varianti112 – 1121C → Y in XNDI.
VAR_015317
Natural varianti113 – 1131R → W in XNDI. 2 Publications
Corresponds to variant rs28935496 [ dbSNP | Ensembl ].
VAR_003524
Natural varianti122 – 1221G → D in XNDI. 1 Publication
VAR_062591
Natural varianti122 – 1221G → R in XNDI.
VAR_015318
Natural varianti123 – 1231M → K in XNDI.
VAR_015319
Natural varianti126 – 1261S → F in XNDI.
VAR_003525
Natural varianti127 – 1271S → F in XNDI.
VAR_015320
Natural varianti128 – 1281Y → S in XNDI. 2 Publications
VAR_003526
Natural varianti130 – 1301I → F in XNDI. 1 Publication
VAR_015321
Natural varianti132 – 1321A → D in XNDI. 1 Publication
VAR_003527
Natural varianti135 – 1351L → P in XNDI.
VAR_015322
Natural varianti137 – 1371R → C in NSIAD; constitutively active. 1 Publication
VAR_025901
Natural varianti137 – 1371R → H in XNDI; fails to activate the adenylyl cyclase system. 4 Publications
VAR_003528
Natural varianti137 – 1371R → L in NSIAD; constitutively active. 1 Publication
VAR_025902
Natural varianti139 – 1391R → S.
VAR_015323
Natural varianti143 – 1431R → P in XNDI. 2 Publications
VAR_003529
Natural varianti147 – 1471A → V.
Corresponds to variant rs5200 [ dbSNP | Ensembl ].
VAR_003530
Natural varianti163 – 1631A → P in XNDI.
VAR_015324
Natural varianti164 – 1641W → S in XNDI.
VAR_003531
Natural varianti167 – 1671S → L in XNDI.
VAR_003532
Natural varianti167 – 1671S → T in XNDI. 1 Publication
VAR_003533
Natural varianti173 – 1731P → S in XNDI.
VAR_015325
Natural varianti174 – 1741Q → L in XNDI.
VAR_015326
Natural varianti181 – 1811R → C in XNDI. 2 Publications
VAR_003534
Natural varianti185 – 1851G → C in XNDI. 1 Publication
VAR_003535
Natural varianti191 – 1911D → G in XNDI.
VAR_015327
Natural varianti201 – 2011G → D in XNDI.
VAR_015328
Natural varianti202 – 2021R → C in XNDI. 1 Publication
VAR_003536
Natural varianti203 – 2031R → C in XNDI. 1 Publication
VAR_003537
Natural varianti204 – 2041T → N in XNDI. 1 Publication
VAR_015329
Natural varianti205 – 2051Y → C in XNDI. 2 Publications
VAR_003538
Natural varianti206 – 2061V → D in XNDI. 1 Publication
VAR_015330
Natural varianti207 – 2071T → N in XNDI.
VAR_015331
Natural varianti209 – 2091I → F in XNDI.
VAR_015332
Natural varianti214 – 2141F → S in XNDI.
VAR_015333
Natural varianti215 – 2151V → M.
VAR_015334
Natural varianti217 – 2171P → T in XNDI.
VAR_015335
Natural varianti219 – 2191L → P in XNDI.
VAR_015336
Natural varianti219 – 2191L → R in XNDI.
VAR_015337
Natural varianti247 – 2504Missing in XNDI.
VAR_003539
Natural varianti247 – 2471R → H in a breast cancer sample; somatic mutation. 1 Publication
VAR_035769
Natural varianti252 – 2521R → W.
Corresponds to variant rs61733407 [ dbSNP | Ensembl ].
VAR_015338
Natural varianti272 – 2721M → K in XNDI.
VAR_015339
Natural varianti277 – 2771V → A in XNDI.
VAR_015340
Natural varianti277 – 2771Missing in CDNI. 4 Publications
VAR_003540
Natural varianti280 – 2801Y → C in XNDI. 2 Publications
VAR_003541
Natural varianti282 – 2821L → P in XNDI.
VAR_015341
Natural varianti285 – 2851A → P in CDNI.
VAR_003542
Natural varianti286 – 2861P → L in XNDI. 1 Publication
VAR_003543
Natural varianti286 – 2861P → R in XNDI. 1 Publication
VAR_003544
Natural varianti286 – 2861P → S in XNDI.
VAR_015342
Natural varianti287 – 2871F → L in XNDI. 1 Publication
VAR_015343
Natural varianti289 – 2891L → P in XNDI.
VAR_015344
Natural varianti292 – 2921L → P in XNDI. 1 Publication
VAR_003545
Natural varianti294 – 2941A → P in XNDI.
VAR_015345
Natural varianti309 – 3091L → P in XNDI. 1 Publication
VAR_003546
Natural varianti309 – 3091L → R in XNDI.
VAR_015346
Natural varianti315 – 3151S → R in XNDI.
VAR_015347
Natural varianti317 – 3171N → K in XNDI. 1 Publication
VAR_003547
Natural varianti318 – 3181S → T.
VAR_015348
Natural varianti319 – 3191C → R in XNDI.
VAR_015349
Natural varianti321 – 3211N → D in XNDI.
VAR_015350
Natural varianti321 – 3211N → K in XNDI.
VAR_015351
Natural varianti321 – 3211N → Y in XNDI.
VAR_015352
Natural varianti322 – 3221P → H in XNDI.
VAR_015353
Natural varianti322 – 3221P → S in XNDI. 1 Publication
VAR_015354
Natural varianti323 – 3231W → R in XNDI.
VAR_015355
Natural varianti323 – 3231W → S in XNDI. 1 Publication
VAR_003548
Natural varianti352 – 3521G → D.
VAR_015356

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei305 – 3095APFVL → GCSRG in isoform 2.
VSP_036990
Alternative sequencei310 – 37162Missing in isoform 2.
VSP_036991Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS14735.1. [P30518-1]
CCDS55539.1. [P30518-2]
PIRiI51865.
RefSeqiNP_000045.1. NM_000054.4. [P30518-1]
NP_001139623.1. NM_001146151.1. [P30518-2]
XP_006724891.1. XM_006724828.1. [P30518-1]
UniGeneiHs.567240.

Genome annotation databases

EnsembliENST00000337474; 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]
GeneIDi554.
KEGGihsa:554.
UCSCiuc004fjh.4. human. [P30518-1]
uc004fji.3. human. [P30518-2]

Polymorphism databases

DMDMi267256.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

Nephrogenic and neurogenic Diabetes Insipidus

AVPR2 pages

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS14735.1. [P30518-1 ]
CCDS55539.1. [P30518-2 ]
PIRi I51865.
RefSeqi NP_000045.1. NM_000054.4. [P30518-1 ]
NP_001139623.1. NM_001146151.1. [P30518-2 ]
XP_006724891.1. XM_006724828.1. [P30518-1 ]
UniGenei Hs.567240.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
4JQI X-ray 2.60 V 343-371 [» ]
ProteinModelPortali P30518.
SMRi P30518. Positions 41-364.
ModBasei Search...

Protein-protein interaction databases

BioGridi 107035. 14 interactions.
STRINGi 9606.ENSP00000338072.

Chemistry

BindingDBi P30518.
ChEMBLi CHEMBL1790.
DrugBanki DB00872. Conivaptan.
DB02638. Terlipressin.
DB00067. Vasopressin.
GuidetoPHARMACOLOGYi 368.

Protein family/group databases

TCDBi 9.A.14.10.3. the g-protein-coupled receptor (gpcr) family.
GPCRDBi Search...

PTM databases

PhosphoSitei P30518.

Polymorphism databases

DMDMi 267256.

Proteomic databases

PaxDbi P30518.
PRIDEi P30518.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000337474 ; 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 ]
GeneIDi 554.
KEGGi hsa:554.
UCSCi uc004fjh.4. human. [P30518-1 ]
uc004fji.3. human. [P30518-2 ]

Organism-specific databases

CTDi 554.
GeneCardsi GC0XP153167.
GeneReviewsi AVPR2.
HGNCi HGNC:897. AVPR2.
HPAi HPA046678.
MIMi 300538. gene.
300539. phenotype.
304800. phenotype.
neXtProti NX_P30518.
Orphaneti 83449. Inappropriate antidiuretic hormone secretion syndrome.
223. Nephrogenic diabetes insipidus.
93606. Nephrogenic syndrome of inappropriate antidiuresis.
PharmGKBi PA25189.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG299951.
HOGENOMi HOG000237331.
HOVERGENi HBG105710.
InParanoidi P30518.
KOi K04228.
OMAi GGARWNR.
PhylomeDBi P30518.
TreeFami TF106499.

Enzyme and pathway databases

Reactomei REACT_17041. Vasopressin-like receptors.
REACT_19327. G alpha (s) signalling events.
REACT_24023. Regulation of water balance by renal Aquaporins.
SignaLinki P30518.

Miscellaneous databases

GeneWikii Arginine_vasopressin_receptor_2.
GenomeRNAii 554.
NextBioi 2289.
PROi P30518.
SOURCEi Search...

Gene expression databases

ArrayExpressi P30518.
Bgeei P30518.
CleanExi HS_AVPR2.
Genevestigatori P30518.

Family and domain databases

Gene3Di 1.20.1070.10. 1 hit.
InterProi IPR000276. GPCR_Rhodpsn.
IPR017452. GPCR_Rhodpsn_7TM.
IPR001817. Vasoprsn_rcpt.
IPR000161. Vprsn_rcpt_V2.
[Graphical view ]
Pfami PF00001. 7tm_1. 1 hit.
[Graphical view ]
PRINTSi PR00237. GPCRRHODOPSN.
PR00896. VASOPRESSINR.
PR00898. VASOPRSNV2R.
PROSITEi PS00237. G_PROTEIN_RECEP_F1_1. 1 hit.
PS50262. G_PROTEIN_RECEP_F1_2. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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. 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. Cited for: VARIANT [LARGE SCALE ANALYSIS] HIS-247.

Entry informationi

Entry nameiV2R_HUMAN
AccessioniPrimary (citable) accession number: P30518
Secondary accession number(s): C5HF20
, O43192, Q3MJD3, Q9UCV9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 1, 1993
Last sequence update: April 1, 1993
Last modified: September 3, 2014
This is version 158 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. 7-transmembrane G-linked receptors
    List of 7-transmembrane G-linked receptor entries
  2. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  7. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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