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AVPR2 (arginine vasopressin receptor 2)

Identity

Other namesADHR
DI1
DIR
DIR3
NDI
V2R
HGNC (Hugo) AVPR2
LocusID (NCBI) 554
Location Xq28
Location_base_pair Starts at 153170529 and ends at 153172620 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)AVPR2   897
Cards
Entrez_Gene (NCBI)AVPR2  554  arginine vasopressin receptor 2
GeneCards (Weizmann)AVPR2
Ensembl hg19 (Hinxton)ENSG00000126895 [Gene_View]  chrX:153170529-153172620 [Contig_View]  AVPR2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000126895 [Gene_View]  chrX:153170529-153172620 [Contig_View]  AVPR2 [Vega]
ICGC DataPortalENSG00000126895
cBioPortalAVPR2
AceView (NCBI)AVPR2
Genatlas (Paris)AVPR2
WikiGenes554
SOURCE (Princeton)AVPR2
Genomic and cartography
GoldenPath hg19 (UCSC)AVPR2  -     chrX:153170529-153172620 +  Xq28   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AVPR2  -     Xq28   [Description]    (hg38-Dec_2013)
EnsemblAVPR2 - Xq28 [CytoView hg19]  AVPR2 - Xq28 [CytoView hg38]
Mapping of homologs : NCBIAVPR2 [Mapview hg19]  AVPR2 [Mapview hg38]
OMIM300538   300539   304800   
Gene and transcription
Genbank (Entrez)AF030626 AF032388 AF101727 AF101728 AY242131
RefSeq transcript (Entrez)NM_000054 NM_001146151
RefSeq genomic (Entrez)AC_000155 NC_000023 NC_018934 NG_008687 NG_009645 NT_011681 NW_001842419 NW_004929448
Consensus coding sequences : CCDS (NCBI)AVPR2
Cluster EST : UnigeneHs.567240 [ NCBI ]
CGAP (NCI)Hs.567240
Alternative Splicing : Fast-db (Paris)GSHG0031913
Alternative Splicing GalleryENSG00000126895
Gene ExpressionAVPR2 [ NCBI-GEO ]     AVPR2 [ SEEK ]   AVPR2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP30518 (Uniprot)
NextProtP30518  [Medical]
With graphics : InterProP30518
Splice isoforms : SwissVarP30518 (Swissvar)
Domaine pattern : Prosite (Expaxy)G_PROTEIN_RECEP_F1_1 (PS00237)    G_PROTEIN_RECEP_F1_2 (PS50262)   
Domains : Interpro (EBI)GPCR_Rhodpsn    GPCR_Rhodpsn_7TM    Vasoprsn_rcpt    Vprsn_rcpt_V2   
Related proteins : CluSTrP30518
Domain families : Pfam (Sanger)7tm_1 (PF00001)   
Domain families : Pfam (NCBI)pfam00001   
DMDM Disease mutations554
Blocks (Seattle)P30518
PDB (SRS)4JQI   
PDB (PDBSum)4JQI   
PDB (IMB)4JQI   
PDB (RSDB)4JQI   
Human Protein AtlasENSG00000126895
Peptide AtlasP30518
HPRD02368
IPIIPI00026823   IPI00640964   IPI00383722   IPI00877977   IPI00878141   
Protein Interaction databases
DIP (DOE-UCLA)P30518
IntAct (EBI)P30518
FunCoupENSG00000126895
BioGRIDAVPR2
IntegromeDBAVPR2
STRING (EMBL)AVPR2
Ontologies - Pathways
QuickGOP30518
Ontology : AmiGOpositive regulation of systemic arterial blood pressure  vasopressin receptor activity  protein binding  endosome  endoplasmic reticulum  Golgi apparatus  plasma membrane  integral component of plasma membrane  water transport  adenylate cyclase-modulating G-protein coupled receptor signaling pathway  activation of adenylate cyclase activity  I-kappaB kinase/NF-kappaB signaling  excretion  hemostasis  positive regulation of cell proliferation  positive regulation of gene expression  integral component of membrane  telencephalon development  positive regulation of protein ubiquitination  interferon-gamma production  response to cytokine  negative regulation of urine volume  negative regulation of renal sodium excretion  transmembrane transport  
Ontology : EGO-EBIpositive regulation of systemic arterial blood pressure  vasopressin receptor activity  protein binding  endosome  endoplasmic reticulum  Golgi apparatus  plasma membrane  integral component of plasma membrane  water transport  adenylate cyclase-modulating G-protein coupled receptor signaling pathway  activation of adenylate cyclase activity  I-kappaB kinase/NF-kappaB signaling  excretion  hemostasis  positive regulation of cell proliferation  positive regulation of gene expression  integral component of membrane  telencephalon development  positive regulation of protein ubiquitination  interferon-gamma production  response to cytokine  negative regulation of urine volume  negative regulation of renal sodium excretion  transmembrane transport  
Pathways : KEGGNeuroactive ligand-receptor interaction    Vasopressin-regulated water reabsorption   
Protein Interaction DatabaseAVPR2
DoCM (Curated mutations)AVPR2
Wikipedia pathwaysAVPR2
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerAVPR2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AVPR2
dbVarAVPR2
ClinVarAVPR2
1000_GenomesAVPR2 
Exome Variant ServerAVPR2
SNP (GeneSNP Utah)AVPR2
SNP : HGBaseAVPR2
Genetic variants : HAPMAPAVPR2
Genomic VariantsAVPR2  AVPR2 [DGVbeta]
Mutations
ICGC Data PortalENSG00000126895 
Somatic Mutations in Cancer : COSMICAVPR2 
CONAN: Copy Number AnalysisAVPR2 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:153170529-153172620
Mutations and Diseases : HGMDAVPR2
OMIM300538    300539    304800   
MedgenAVPR2
NextProtP30518 [Medical]
GENETestsAVPR2
Disease Genetic AssociationAVPR2
Huge Navigator AVPR2 [HugePedia]  AVPR2 [HugeCancerGEM]
snp3D : Map Gene to Disease554
DGIdb (Drug Gene Interaction db)AVPR2
General knowledge
Homologs : HomoloGeneAVPR2
Homology/Alignments : Family Browser (UCSC)AVPR2
Phylogenetic Trees/Animal Genes : TreeFamAVPR2
Chemical/Protein Interactions : CTD554
Chemical/Pharm GKB GenePA25189
Clinical trialAVPR2
Cancer Resource (Charite)ENSG00000126895
Other databases
Probes
Litterature
PubMed123 Pubmed reference(s) in Entrez
CoreMineAVPR2
GoPubMedAVPR2
iHOPAVPR2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 20:19:14 CET 2014

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