ENSG00000126895


Homo sapiens

Features
Gene ID: ENSG00000126895
  
Biological name :AVPR2
  
Synonyms : arginine vasopressin receptor 2 / AVPR2 / P30518
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: X
Strand: 1
Band: q28
Gene start: 153902531
Gene end: 153907166
  
Corresponding Affymetrix probe sets: 208108_s_at (Human Genome U133 Plus 2.0 Array)   208111_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000338072
Ensembl peptide - ENSP00000393397
Ensembl peptide - ENSP00000496396
Ensembl peptide - ENSP00000393513
Ensembl peptide - ENSP00000351805
Ensembl peptide - ENSP00000359066
NCBI entrez gene - 554     See in Manteia.
OMIM - 300538
RefSeq - NM_001146151
RefSeq - XM_006724828
RefSeq - NM_000054
RefSeq Peptide - NP_000045
RefSeq Peptide - NP_001139623
swissprot - F8WET1
swissprot - P30518
swissprot - C9JV81
Ensembl - ENSG00000126895
  
Related genetic diseases (OMIM): 300539 - Nephrogenic syndrome of inappropriate antidiuresis, 300539
  304800 - Diabetes insipidus, nephrogenic, 304800
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 avpr2aaENSDARG00000007436Danio rerio
 avpr2abENSDARG00000029219Danio rerio
 AVPR2ENSGALG00000009497Gallus gallus
 Avpr2ENSMUSG00000031390Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
AVPR1B / P47901 / arginine vasopressin receptor 1BENSG0000019804940
OXTR / P30559 / oxytocin receptorENSG0000018091438
AVPR1A / P37288 / arginine vasopressin receptor 1AENSG0000016614837
NPSR1 / Q6W5P4 / neuropeptide S receptor 1ENSG0000018725823
GNRHR / P30968 / gonadotropin releasing hormone receptorENSG0000010916320
GPR19 / Q15760 / G protein-coupled receptor 19ENSG0000018315018


Protein motifs (from Interpro)
Interpro ID Name
 IPR000161  Vasopressin V2 receptor
 IPR000276  G protein-coupled receptor, rhodopsin-like
 IPR001817  Vasopressin receptor
 IPR017452  GPCR, rhodopsin-like, 7TM


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001992 regulation of systemic arterial blood pressure by vasopressin IBA
 biological_processGO:0003084 positive regulation of systemic arterial blood pressure IMP
 biological_processGO:0003091 renal water homeostasis TAS
 biological_processGO:0007165 signal transduction IEA
 biological_processGO:0007186 G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway TAS
 biological_processGO:0007190 activation of adenylate cyclase activity TAS
 biological_processGO:0007249 I-kappaB kinase/NF-kappaB signaling IMP
 biological_processGO:0007588 excretion TAS
 biological_processGO:0007599 hemostasis TAS
 biological_processGO:0008284 positive regulation of cell proliferation IMP
 biological_processGO:0010628 positive regulation of gene expression ISS
 biological_processGO:0021537 telencephalon development IEP
 biological_processGO:0031398 positive regulation of protein ubiquitination NAS
 biological_processGO:0032609 interferon-gamma production IMP
 biological_processGO:0032870 cellular response to hormone stimulus IBA
 biological_processGO:0034097 response to cytokine IMP
 biological_processGO:0035811 negative regulation of urine volume IMP
 biological_processGO:0035814 negative regulation of renal sodium excretion IMP
 biological_processGO:0045777 positive regulation of blood pressure IMP
 biological_processGO:0045907 positive regulation of vasoconstriction IBA
 biological_processGO:0061024 membrane organization TAS
 biological_processGO:1901652 response to peptide IBA
 cellular_componentGO:0005768 endosome TAS
 cellular_componentGO:0005783 endoplasmic reticulum TAS
 cellular_componentGO:0005794 Golgi apparatus TAS
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane NAS
 cellular_componentGO:0030665 clathrin-coated vesicle membrane TAS
 molecular_functionGO:0004871 obsolete signal transducer activity IEA
 molecular_functionGO:0004930 G-protein coupled receptor activity IEA
 molecular_functionGO:0005000 vasopressin receptor activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0042277 peptide binding IBA


Pathways (from Reactome)
Pathway description
Vasopressin-like receptors
G alpha (s) signalling events
Vasopressin regulates renal water homeostasis via Aquaporins
Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
Defective AVP causes neurohypophyseal diabetes insipidus (NDI)


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000021 Lower urinary tract dilatation 
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 HP:0000072 Hydroureter "The distention of the ureter with urine." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0000103 Polyuria 
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 HP:0000737 Irritability 
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 HP:0000873 Diabetes insipidus "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators]
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 HP:0001249 Mental retardation 
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 HP:0001250 Seizures "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson]
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 HP:0001263 Developmental retardation "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators]
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 HP:0001419 X-linked recessive inheritance "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators]
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 HP:0001425 Heterogeneous 
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 HP:0001508 Failure to thrive 
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 HP:0001561 Polyhydramnios 
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 HP:0001945 Fever 
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 HP:0001955 Unexplained fevers "Episodes of fever for which no infectious cause can be identified." [HPO:curators]
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 HP:0001959 Polydipsia 
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 HP:0001986 Hypertonic dehydration 
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 HP:0002013 Vomiting 
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 HP:0002017 Nausea and vomiting 
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 HP:0002019 Constipation 
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 HP:0002039 Anorexia 
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 HP:0002902 Hyponatremia 
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 HP:0003158 Hyposthenuria 
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 HP:0003228 Hypernatremia 
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 HP:0003351 Decreased renin 
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 HP:0003623 Onset in neonatal period 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004421 Elevated systolic blood pressure 
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 HP:0004906 hypernatremic dehydration 
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 HP:0008872 Feeding problems in infancy 
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 HP:0009806 Nephrogenic diabetes insipidus "A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP)." [HPO:curators]
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 HP:0010677 Enuresis nocturna "`Enuresis` (HP:0000805) occuring during sleeping hours." [HPO:sdoelken]
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 HP:0011106 Hypovolemia "An decrease in the amount of intravascular fluid, particularly in the volume of the circulating blood." [HPO:probinson]
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 HP:0011968 Feeding difficulties "Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it." [ISCA:eriggs]
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 HP:0012605 Hypernatriuria "An increased concentration of `sodium(1+)` (CHEBI:29101) in the `urine` (FMA:12274)." [Eurenomics:ewuehl]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000087460 GNAS / O95467 / Q5JWF2 / P63092 / P84996 / GNAS complex locus  / complex / reaction
 ENSG00000173020 GRK2 / P25098 / G protein-coupled receptor kinase 2  / reaction
 ENSG00000137486 ARRB1 / P49407 / arrestin beta 1  / complex / reaction
 ENSG00000101200 AVP / P01185 / arginine vasopressin  / complex / reaction
 ENSG00000141480 ARRB2 / P32121 / arrestin beta 2  / reaction / complex
 ENSG00000100077 GRK3 / P35626 / G protein-coupled receptor kinase 3  / reaction






 

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