{ "url": "https://dantelabs.com/es/genes/avpr2", "gene": { "slug": "avpr2", "symbol": "AVPR2", "name": "arginine vasopressin receptor 2", "hgnc": "HGNC:897", "summary": null, "location": "Xq28", "locusType": "gene with protein product", "aliases": [ "V2R" ], "previousSymbols": [ "DIR3", "DIR" ], "ensemblId": "ENSG00000126895", "entrezId": 554, "omim": [ "300538" ], "uniprot": [ "P30518" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "X", "start": 153904673, "end": 153907166, "strand": "+", "ensemblTranscript": "ENST00000646375.2", "refseqTranscript": "NM_000054.7", "ensemblProtein": "ENSP00000496396.1", "refseqProtein": "NP_000045.1", "exons": [ { "start": 153904673, "end": 153904771 }, { "start": 153904974, "end": 153905170 }, { "start": 153905532, "end": 153906416 }, { "start": 153906523, "end": 153907166 } ], "cds": { "start": 153905146, "end": 153906728 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "X", "start": 153167985, "end": 153172620, "strand": "+" }, "neighbourhood": { "release": "116", "start": 153405920, "end": 154405919, "genes": [ { "symbol": "ZFP92", "ensemblId": "ENSG00000189420", "biotype": "protein_coding", "start": 153411434, "end": 153426481, "strand": "+", "slug": "zfp92" }, { "symbol": "TREX2", "ensemblId": "ENSG00000183479", "biotype": "protein_coding", "start": 153444473, "end": 153470592, "strand": "-", "slug": "trex2" }, { "symbol": "HAUS7", "ensemblId": "ENSG00000213397", "biotype": "protein_coding", "start": 153447655, "end": 153495529, "strand": "-", "slug": "haus7" }, { "symbol": "BGN", "ensemblId": "ENSG00000182492", "biotype": "protein_coding", "start": 153488654, "end": 153510711, "strand": "+", "slug": "bgn" }, { "symbol": "ATP2B3", "ensemblId": "ENSG00000067842", "biotype": "protein_coding", "start": 153517620, "end": 153582939, "strand": "+", "slug": "atp2b3" }, { "symbol": "CCNQ", "ensemblId": "ENSG00000262919", "biotype": "protein_coding", "start": 153587925, "end": 153600045, "strand": "-", "slug": "ccnq" }, { "symbol": "DUSP9", "ensemblId": "ENSG00000130829", "biotype": "protein_coding", "start": 153642397, "end": 153651326, "strand": "+", "slug": "dusp9" }, { "symbol": "PNCK", "ensemblId": "ENSG00000130822", "biotype": "protein_coding", "start": 153669730, "end": 153689033, "strand": "-", "slug": "pnck" }, { "symbol": "SLC6A8", "ensemblId": "ENSG00000130821", "biotype": "protein_coding", "start": 153687914, "end": 153696591, "strand": "+", "slug": "slc6a8" }, { "symbol": "BCAP31", "ensemblId": "ENSG00000185825", "biotype": "protein_coding", "start": 153698006, "end": 153725957, "strand": "-", "slug": "bcap31" }, { "symbol": "ABCD1", "ensemblId": "ENSG00000101986", "biotype": "protein_coding", "start": 153724495, "end": 153744755, "strand": "+", "slug": "abcd1" }, { "symbol": "PLXNB3", "ensemblId": "ENSG00000198753", "biotype": "protein_coding", "start": 153764179, "end": 153779346, "strand": "+", "slug": "plxnb3" }, { "symbol": "SRPK3", "ensemblId": "ENSG00000184343", "biotype": "protein_coding", "start": 153781001, "end": 153785768, "strand": "+", "slug": "srpk3" }, { "symbol": "IDH3G", "ensemblId": "ENSG00000067829", "biotype": "protein_coding", "start": 153785735, "end": 153794535, "strand": "-", "slug": "idh3g" }, { "symbol": "SSR4", "ensemblId": "ENSG00000180879", "biotype": "protein_coding", "start": 153793516, "end": 153798510, "strand": "+", "slug": "ssr4" }, { "symbol": "PDZD4", "ensemblId": "ENSG00000067840", "biotype": "protein_coding", "start": 153802161, "end": 153830935, "strand": "-", "slug": "pdzd4" }, { "symbol": "L1CAM", "ensemblId": "ENSG00000198910", "biotype": "protein_coding", "start": 153861511, "end": 153886204, "strand": "-", "slug": "l1cam" }, { "symbol": "", "ensemblId": "ENSG00000284987", "biotype": "protein_coding", "start": 153872221, "end": 153909223, "strand": "-" }, { "symbol": "ARHGAP4", "ensemblId": "ENSG00000089820", "biotype": "protein_coding", "start": 153907367, "end": 153934999, "strand": "-", "slug": "arhgap4" }, { "symbol": "NAA10", "ensemblId": "ENSG00000102030", "biotype": "protein_coding", "start": 153928799, "end": 153935083, "strand": "-", "slug": "naa10" }, { "symbol": "RENBP", "ensemblId": "ENSG00000102032", "biotype": "protein_coding", "start": 153935269, "end": 153944688, "strand": "-", "slug": "renbp" }, { "symbol": "HCFC1", "ensemblId": "ENSG00000172534", "biotype": "protein_coding", "start": 153946434, "end": 153972427, "strand": "-", "slug": "hcfc1" }, { "symbol": "TMEM187", "ensemblId": "ENSG00000177854", "biotype": "protein_coding", "start": 153972290, "end": 153983194, "strand": "+", "slug": "tmem187" }, { "symbol": "IRAK1", "ensemblId": "ENSG00000184216", "biotype": "protein_coding", "start": 154010501, "end": 154020650, "strand": "-", "slug": "irak1" }, { "symbol": "MECP2", "ensemblId": "ENSG00000169057", "biotype": "protein_coding", "start": 154021573, "end": 154137103, "strand": "-", "slug": "mecp2" }, { "symbol": "OPN1LW", "ensemblId": "ENSG00000102076", "biotype": "protein_coding", "start": 154144243, "end": 154159032, "strand": "+", "slug": "opn1lw" }, { "symbol": "OPN1MW", "ensemblId": "ENSG00000268221", "biotype": "protein_coding", "start": 154182596, "end": 154196861, "strand": "+", "slug": "opn1mw" }, { "symbol": "OPN1MW2", "ensemblId": "ENSG00000166160", "biotype": "protein_coding", "start": 154219756, "end": 154233286, "strand": "+", "slug": "opn1mw2" }, { "symbol": "OPN1MW3", "ensemblId": "ENSG00000269433", "biotype": "protein_coding", "start": 154257582, "end": 154271090, "strand": "+", "slug": "opn1mw3" }, { "symbol": "TEX28", "ensemblId": "ENSG00000278057", "biotype": "protein_coding", "start": 154271265, "end": 154295853, "strand": "-", "slug": "tex28" }, { "symbol": "TKTL1", "ensemblId": "ENSG00000007350", "biotype": "protein_coding", "start": 154295795, "end": 154330350, "strand": "+", "slug": "tktl1" }, { "symbol": "FLNA", "ensemblId": "ENSG00000196924", "biotype": "protein_coding", "start": 154348524, "end": 154374643, "strand": "-", "slug": "flna" }, { "symbol": "EMD", "ensemblId": "ENSG00000102119", "biotype": "protein_coding", "start": 154379205, "end": 154381574, "strand": "+", "slug": "emd" }, { "symbol": "RPL10", "ensemblId": "ENSG00000147403", "biotype": "protein_coding", "start": 154389955, "end": 154409168, "strand": "+", "slug": "rpl10" }, { "symbol": "DNASE1L1", "ensemblId": "ENSG00000013563", "biotype": "protein_coding", "start": 154401236, "end": 154412119, "strand": "-", "slug": "dnase1l1" } ], "truncated": false }, "reports": [ { "slug": "nephrogenic-diabetes-insipidus", "name": "Diabetes insípido nefrogénico", "diseases": [ { "mondoId": "MONDO:0010356", "name": "Síndrome nefrogénico de antidiuresis inapropiada", "genes": 1, "inheritance": "x-linked-recessive", "description": "Enfermedad ligada al cromosoma X causada por variantes activadoras de AVPR2, en la que los riñones retienen demasiada agua y los niveles de sodio en sangre disminuyen.", "management": "Conocer su condición permite orientar la restricción de líquidos y otras medidas para controlar los niveles bajos de sodio.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0016383", "name": "Diabetes insípido nefrogénico", "genes": 2, "inheritance": null, "description": "Incapacidad de los riñones para concentrar la orina, con mayor frecuencia ligada al cromosoma X (AVPR2) y con menor frecuencia autosómica (AQP2), que se manifiesta desde la lactancia con sed excesiva, micción abundante y deshidratación.", "management": "El diagnóstico precoz ayuda a prevenir la deshidratación peligrosa y los niveles elevados de sodio en la lactancia, y el tratamiento con dieta, tiazidas o fármacos antiinflamatorios puede reducir el volumen de orina.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "x-linked-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/es/conditions/nephrogenic-diabetes-insipidus" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "anorexia", "name": "Anorexia", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anorexia" }, { "slug": "constipation", "name": "Constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/constipation" }, { "slug": "decreased-circulating-renin-concentration", "name": "Decreased circulating renin concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-renin-concentration" }, { "slug": "decreased-serum-creatinine", "name": "Decreased serum creatinine", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/decreased-serum-creatinine" }, { "slug": "hypovolemia", "name": "Depleted blood volume", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypovolemia" }, { "slug": "diabetes-insipidus", "name": "Diabetes insipidus", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/diabetes-insipidus" }, { "slug": "elevated-systolic-blood-pressure", "name": "Elevated systolic blood pressure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-systolic-blood-pressure" }, { "slug": "enuresis-nocturna", "name": "Enuresis nocturna", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/enuresis-nocturna" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "polydipsia", "name": "Extreme thirst", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/polydipsia" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "feeding-difficulties", "name": "Feeding difficulties", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/feeding-difficulties" }, { "slug": "feeding-difficulties-in-infancy", "name": "Feeding difficulties in infancy", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/feeding-difficulties-in-infancy" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fever" }, { "slug": "functional-abnormality-of-the-bladder", "name": "Functional abnormality of the bladder", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/functional-abnormality-of-the-bladder" }, { "slug": "generalized-onset-seizure", "name": "Generalized-onset seizure", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-onset-seizure" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "hypernatremia", "name": "High blood sodium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypernatremia" }, { "slug": "polyhydramnios", "name": "High levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/polyhydramnios" }, { "slug": "hydroureter", "name": "Hydroureter", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hydroureter" }, { "slug": "hypernatremic-dehydration", "name": "Hypernatremic dehydration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypernatremic-dehydration" }, { "slug": "hypernatriuria", "name": "Hypernatriuria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypernatriuria" }, { "slug": "hypertonic-dehydration", "name": "Hypertonic dehydration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypertonic-dehydration" }, { "slug": "hyposthenuria", "name": "Hyposthenuria", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyposthenuria" }, { "slug": "polyuria", "name": "Increased urine output", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/polyuria" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "hyponatremia", "name": "Low blood sodium levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyponatremia" }, { "slug": "megacystis", "name": "Megacystis", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/megacystis" }, { "slug": "nausea-and-vomiting", "name": "Nausea and vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nausea-and-vomiting" }, { "slug": "nephrogenic-diabetes-insipidus", "name": "Nephrogenic diabetes insipidus", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nephrogenic-diabetes-insipidus" }, { "slug": "reduced-blood-urea-nitrogen", "name": "Reduced blood urea nitrogen", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-blood-urea-nitrogen" }, { "slug": "renal-insufficiency", "name": "Renal failure", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/renal-insufficiency" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "unexplained-fevers", "name": "Unexplained fevers", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/unexplained-fevers" }, { "slug": "vomiting", "name": "Vomiting", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/vomiting" } ], "related": [ { "slug": "aqp2", "symbol": "AQP2", "name": "aquaporin 2", "shared": 1, "url": "https://dantelabs.com/es/genes/aqp2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }