Details for: AVPR2
Associated with
Other Information
Genular Protein ID: 2455555879
Symbol: V2R_HUMAN
Name: Vasopressin V2 receptor
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 1415251
Title: Structure and chromosomal localization of the human antidiuretic hormone receptor gene.
PubMed ID: 1415251
PubMed ID: 1534149
Title: Molecular cloning of the receptor for human antidiuretic hormone.
PubMed ID: 1534149
DOI: 10.1038/357333a0
PubMed ID: 7913579
Title: Heterogeneous AVPR2 gene mutations in congenital nephrogenic diabetes insipidus.
PubMed ID: 7913579
PubMed ID: 8735975
Title: Evidence for expression of vasopressin V2 receptor mRNA in human lung.
PubMed ID: 8735975
PubMed ID: 9581826
Title: Expression of all known vasopressin receptor subtypes by small cell tumors implies a multifaceted role for this neuropeptide.
PubMed ID: 9581826
PubMed ID: 19440390
Title: Involvement of the V2 vasopressin receptor in adaptation to limited water supply.
PubMed ID: 19440390
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 8882880
Title: Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patients with congenital nephrogenic diabetes insipidus.
PubMed ID: 8882880
PubMed ID: 9224808
PubMed ID: 21056967
Title: Regulation of M(3) muscarinic receptor expression and function by transmembrane protein 147.
PubMed ID: 21056967
PubMed ID: 23236378
Title: Mammalian alpha arrestins link activated seven transmembrane receptors to Nedd4 family e3 ubiquitin ligases and interact with beta arrestins.
PubMed ID: 23236378
PubMed ID: 1356229
Title: Molecular identification of the gene responsible for congenital nephrogenic diabetes insipidus.
PubMed ID: 1356229
DOI: 10.1038/359233a0
PubMed ID: 1303271
Title: Mutations in the vasopressin type 2 receptor gene (AVPR2) associated with nephrogenic diabetes insipidus.
PubMed ID: 1303271
DOI: 10.1038/ng1092-99
PubMed ID: 1303257
Title: Mutations in the V2 vasopressin receptor gene are associated with X-linked nephrogenic diabetes insipidus.
PubMed ID: 1303257
DOI: 10.1038/ng1092-103
PubMed ID: 8267567
Title: Two novel mutations in the vasopressin V2 receptor gene in unrelated Japanese kindreds with nephrogenic diabetes insipidus.
PubMed ID: 8267567
PubMed ID: 8479490
Title: A molecular defect in the vasopressin V2-receptor gene causing nephrogenic diabetes insipidus.
PubMed ID: 8479490
PubMed ID: 8514744
Title: Nephrogenic diabetes insipidus. A V2 vasopressin receptor unable to stimulate adenylyl cyclase.
PubMed ID: 8514744
PubMed ID: 8037205
Title: Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus.
PubMed ID: 8037205
PubMed ID: 7999078
Title: Two novel mutations in the vasopressin V2 receptor gene in patients with congenital nephrogenic diabetes insipidus.
PubMed ID: 7999078
PubMed ID: 7987330
Title: Novel mutations in the V2 vasopressin receptor gene of patients with X-linked nephrogenic diabetes insipidus.
PubMed ID: 7987330
DOI: 10.1093/hmg/3.8.1429
PubMed ID: 7833930
Title: Mutations in the vasopressin V2-receptor gene in three families of Italian descent with nephrogenic diabetes insipidus.
PubMed ID: 7833930
DOI: 10.1093/hmg/3.9.1685
PubMed ID: 8045948
Title: Novel mutations in the V2 vasopressin receptor gene in two pedigrees with congenital nephrogenic diabetes insipidus.
PubMed ID: 8045948
PubMed ID: 7933835
Title: Inheritance of mutations in the V2 receptor gene in thirteen families with nephrogenic diabetes insipidus.
PubMed ID: 7933835
DOI: 10.1038/ki.1994.256
PubMed ID: 7984150
Title: 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.
PubMed ID: 7984150
PubMed ID: 8078903
Title: Nephrogenic diabetes insipidus: an X chromosome-linked dominant inheritance pattern with a vasopressin type 2 receptor gene that is structurally normal.
PubMed ID: 8078903
PubMed ID: 7607658
Title: Clinical phenotype of nephrogenic diabetes insipidus in females heterozygous for a vasopressin type 2 receptor mutation.
PubMed ID: 7607658
DOI: 10.1007/bf00214189
PubMed ID: 7560098
Title: Binding-, intracellular transport-, and biosynthesis-defective mutants of vasopressin type 2 receptor in patients with X-linked nephrogenic diabetes insipidus.
PubMed ID: 7560098
DOI: 10.1172/jci118252
PubMed ID: 8929875
Title: Three novel AVPR2 mutations in three Japanese families with X-linked nephrogenic diabetes insipidus.
PubMed ID: 8929875
PubMed ID: 9402087
Title: Mutations in the vasopressin V2 receptor and aquaporin-2 genes in 12 families with congenital nephrogenic diabetes insipidus.
PubMed ID: 9402087
DOI: 10.1681/asn.v8121855
PubMed ID: 9369448
Title: Biochemical basis of partial nephrogenic diabetes insipidus phenotypes.
PubMed ID: 9369448
PubMed ID: 9127330
Title: Six novel mutations in the vasopressin V2 receptor gene causing nephrogenic diabetes insipidus.
PubMed ID: 9127330
DOI: 10.1159/000189581
PubMed ID: 9452109
Title: 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.
PubMed ID: 9452109
PubMed ID: 10694923
Title: C112R, W323S, N317K mutations in the vasopressin V2 receptor gene in patients with nephrogenic diabetes insipidus.
PubMed ID: 10694923
PubMed ID: 9711877
Title: V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanisms.
PubMed ID: 9711877
DOI: 10.1002/(sici)1098-1004(1998)12:3<196::aid-humu7>3.0.co;2-f
PubMed ID: 9773787
Title: Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus: molecular basis of a mild clinical phenotype.
PubMed ID: 9773787
DOI: 10.1681/asn.v9101861
PubMed ID: 9853256
Title: AVPR2 variants and V2 vasopressin receptor function in nephrogenic diabetes insipidus.
PubMed ID: 9853256
PubMed ID: 10477431
Title: Molecular analyses of the vasopressin type 2 receptor and aquaporin-2 genes in Brazilian kindreds with nephrogenic diabetes insipidus.
PubMed ID: 10477431
DOI: 10.1002/(sici)1098-1004(1999)14:3<233::aid-humu6>3.0.co;2-o
PubMed ID: 10820167
Title: Nephrogenic diabetes insipidus: functional analysis of new AVPR2 mutations identified in Italian families.
PubMed ID: 10820167
DOI: 10.1681/asn.v1161033
PubMed ID: 10820168
Title: Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus.
PubMed ID: 10820168
DOI: 10.1681/asn.v1161044
PubMed ID: 10770218
Title: Functional characterization of the molecular defects causing nephrogenic diabetes insipidus in eight families.
PubMed ID: 10770218
PubMed ID: 11026555
Title: Misfolded vasopressin V2 receptors caused by extracellular point mutations entail congenital nephrogenic diabetes insipidus.
PubMed ID: 11026555
PubMed ID: 11232028
Title: The property of a novel V2 receptor mutant in a patient with nephrogenic diabetes insipidus.
PubMed ID: 11232028
PubMed ID: 11793119
Title: Molecular and cellular defects in nephrogenic diabetes insipidus.
PubMed ID: 11793119
PubMed ID: 11916004
Title: Identification of mutations in the arginine vasopressin receptor 2 gene causing nephrogenic diabetes insipidus in Chinese patients.
PubMed ID: 11916004
PubMed ID: 15872203
Title: Nephrogenic syndrome of inappropriate antidiuresis.
PubMed ID: 15872203
DOI: 10.1056/nejmoa042743
PubMed ID: 16845277
Title: Novel mutations underlying nephrogenic diabetes insipidus in Arab families.
PubMed ID: 16845277
PubMed ID: 16959974
Title: The consensus coding sequences of human breast and colorectal cancers.
PubMed ID: 16959974
Sequence Information:
- Length: 371
- Mass: 40279
- Checksum: 1F87D20A3C0ECB0D
- Sequence:
MLMASTTSAV PGHPSLPSLP SNSSQERPLD TRDPLLARAE LALLSIVFVA VALSNGLVLA ALARRGRRGH WAPIHVFIGH LCLADLAVAL FQVLPQLAWK ATDRFRGPDA LCRAVKYLQM VGMYASSYMI LAMTLDRHRA ICRPMLAYRH GSGAHWNRPV LVAWAFSLLL SLPQLFIFAQ RNVEGGSGVT DCWACFAEPW GRRTYVTWIA LMVFVAPTLG IAACQVLIFR EIHASLVPGP SERPGGRRRG RRTGSPGEGA HVSAAVAKTV RMTLVIVVVY VLCWAPFFLV QLWAAWDPEA PLEGAPFVLL MLLASLNSCT NPWIYASFSS SVSSELRSLL CCARGRTPPS LGPQDESCTT ASSSLAKDTS S
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.