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Avpr2
Gene Detail
 Symbol
Name
ID
Avpr2
arginine vasopressin receptor 2
MGI:88123
Synonyms DI1, ND1, nephrogenic diabetes insipidus, V2R
Feature Type protein coding gene
Genetic Map
Chromosome X
37.46 cM
Detailed Genetic Map ± 1 cM


Mapping data(9)
Sequence Map
ChrX:73892102-73895502 bp, + strand
From VEGA annotation of GRCm38

  3401 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:20064  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 dog; 1 western clawed frog; 2 zebrafish

Protein SuperFamily: vasopressin/oxytocin receptor
Gene Tree: Avpr2

Human
homologs
Human Homolog AVPR2, arginine vasopressin receptor 2
NCBI Gene ID 554
neXtProt AC  NX_P30518
Human Synonyms  ADHR, DI1, DIR, DIR3, NDI, V2R
Human Chr (Location)  Xq28; chrX:153902531-153907166 (+)  GRCh38
Disease Associations  (2) Diseases Associated with Human AVPR2
Mutations,
alleles, and
phenotypes
All mutations/alleles(2) : Targeted(2)
 
Homozygous mutation of this gene results in death before 1 week of age and various renal function and metabolic defects, such as increased hematocrit, increased serum sodium and chloride concentration, hypoglycemia, and decreased urine osmolality.
 
Human Diseases Modeled Using Mouse Avpr2 (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(1)
Interactions
Avpr2 interacts with 176 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (20 annotations)
Process G-protein coupled receptor signaling pathway, I-kappaB kinase/NF-kappaB signaling, ...
Component integral component of membrane, intracellular, ...
Function G-protein coupled receptor activity, signal transducer activity, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (41)    Tissues (28)    Images (13)
Theiler Stages: 19, 23, 28
Assay TypeResults
RNA in situ 41
cDNA source data(7)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(14) Genomic(4) cDNA(10)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000017671 (Evidence)
Ensembl Gene ModelENSMUSG00000031390 (Evidence)
Entrez Gene12000 (Evidence)
DFCITC1590212, TC1595396, TC1604217
NIA Mouse Gene IndexU019949
Consensus CDS ProjectCCDS30216.1, CCDS72396.1, CCDS72397.1
International Mouse Knockout Project StatusAvpr2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017671 VEGA Gene Model | MGI Sequence Detail 3401 C57BL/6J ±  kb
transcript OTTMUST00000042869 VEGA | MGI Sequence Detail 1812 Not Applicable 
polypeptide OTTMUSP00000019256 VEGA | MGI Sequence Detail 371 Not Applicable 

For the selected sequences
All sequences(45) RefSeq(10) UniProt(5)
Polymorphisms RFLP(1) : SNPs within 2kb(22 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR017452 GPCR, rhodopsin-like, 7TM
InterPro IPR000276 G protein-coupled receptor, rhodopsin-like
InterPro IPR001817 Vasopressin receptor
InterPro IPR000161 Vasopressin V2 receptor
Protein Ontology PR:000001683 vasopressin V2 receptor
References (Earliest) J:7702 Charlton HM, Mouse mutants as models in endocrine research. Q J Exp Physiol. 1984 Oct;69(4):655-76
(Latest) J:178649 Yang DH, et al., Renal collecting system growth and function depend upon embryonic gamma1 laminin expression. Development. 2011 Oct;138(20):4535-44
All references(48)
Disease annotation references (1)
Other
accession IDs
MGD-MRK-1487

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/09/2014
MGI 5.19
The Jackson Laboratory