{ "url": "https://dantelabs.com/es/genes/gpnmb", "gene": { "slug": "gpnmb", "symbol": "GPNMB", "name": "glycoprotein nmb", "hgnc": "HGNC:4462", "summary": null, "location": "7p15.3", "locusType": "gene with protein product", "aliases": [ "NMB", "HGFIN" ], "previousSymbols": [], "ensemblId": "ENSG00000136235", "entrezId": 10457, "omim": [ "604368" ], "uniprot": [ "Q14956" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "7", "start": 23246775, "end": 23275108, "strand": "+", "ensemblTranscript": "ENST00000258733.9", "refseqTranscript": "NM_002510.3", "ensemblProtein": "ENSP00000258733.5", "refseqProtein": "NP_002501.1", "exons": [ { "start": 23246775, "end": 23246927 }, { "start": 23253307, "end": 23253459 }, { "start": 23254169, "end": 23254312 }, { "start": 23256892, "end": 23257065 }, { "start": 23259980, "end": 23260138 }, { "start": 23260456, "end": 23260773 }, { "start": 23266517, "end": 23266615 }, { "start": 23267886, "end": 23267988 }, { "start": 23269967, "end": 23270175 }, { "start": 23273521, "end": 23273614 }, { "start": 23274065, "end": 23275108 } ], "cds": { "start": 23246858, "end": 23274224 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "7", "start": 23275586, "end": 23314727, "strand": "+" }, "neighbourhood": { "release": "116", "start": 22760942, "end": 23760941, "genes": [ { "symbol": "TOMM7", "ensemblId": "ENSG00000196683", "biotype": "protein_coding", "start": 22812628, "end": 22822891, "strand": "-", "slug": "tomm7" }, { "symbol": "HYCC1", "ensemblId": "ENSG00000122591", "biotype": "protein_coding", "start": 22889371, "end": 23014148, "strand": "-", "slug": "hycc1" }, { "symbol": "KLHL7", "ensemblId": "ENSG00000122550", "biotype": "protein_coding", "start": 23105729, "end": 23177914, "strand": "+", "slug": "klhl7" }, { "symbol": "NUP42", "ensemblId": "ENSG00000136243", "biotype": "protein_coding", "start": 23181804, "end": 23201011, "strand": "+", "slug": "nup42" }, { "symbol": "MALSU1", "ensemblId": "ENSG00000156928", "biotype": "protein_coding", "start": 23298739, "end": 23311729, "strand": "+", "slug": "malsu1" }, { "symbol": "IGF2BP3", "ensemblId": "ENSG00000136231", "biotype": "protein_coding", "start": 23308571, "end": 23470833, "strand": "-", "slug": "igf2bp3" }, { "symbol": "TRA2A", "ensemblId": "ENSG00000164548", "biotype": "protein_coding", "start": 23504780, "end": 23532041, "strand": "-", "slug": "tra2a" }, { "symbol": "CCDC126", "ensemblId": "ENSG00000169193", "biotype": "protein_coding", "start": 23597374, "end": 23644714, "strand": "+", "slug": "ccdc126" }, { "symbol": "FAM221A", "ensemblId": "ENSG00000188732", "biotype": "protein_coding", "start": 23680114, "end": 23706228, "strand": "+", "slug": "fam221a" }, { "symbol": "STK31", "ensemblId": "ENSG00000196335", "biotype": "protein_coding", "start": 23710203, "end": 23832513, "strand": "+", "slug": "stk31" } ], "truncated": false }, "reports": [ { "slug": "hereditary-amyloidosis-145", "name": "Amiloidosis hereditaria", "diseases": [ { "mondoId": "MONDO:0018634", "name": "Amiloidosis hereditaria", "genes": 12, "inheritance": "autosomal-dominant", "description": "La amiloidosis hereditaria hace referencia a un grupo de afecciones genéticas que constituyen uno de los subtipos de amiloidosis. Se caracteriza por el depósito de una proteína anómala llamada amiloide en diversos órganos del cuerpo donde no debería estar, lo que altera la estructura y la función de sus tejidos. En la amiloidosis hereditaria, los depósitos de amiloide se localizan con mayor frecuencia en los tejidos del corazón, los riñones y el sistema nervioso. Aunque los síntomas pueden manifestarse en la infancia, la mayoría de las personas no los experimentan hasta la edad adulta. \n\nExisten numerosos tipos de amiloidosis hereditaria asociados a diferentes mutaciones genéticas y proteínas anómalas. El tipo más común es la amiloidosis por transtiretina (ATTR), una enfermedad en la que los depósitos de amiloide están formados principalmente por la proteína transtiretina, producida en el hígado. Otros ejemplos de amiloidosis hereditaria incluyen, entre otros, la amiloidosis por apolipoproteína AI (A ApoAI), por gelsolina (A Gel), por lisozima (A Lys), por cistatina C (A Cys), por la cadena Aα del fibrinógeno (A Fib) y por apolipoproteína AII (A ApoAII). ", "management": "Tafamidis (estabilizador cinético), patisirán (ARNi), vutrisirán (ARNi), inotersén (antisentido), trasplante hepático", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/es/conditions/hereditary-amyloidosis-145" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "dry-skin", "name": "Dry skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dry-skin" }, { "slug": "generalized-hyperpigmentation", "name": "Generalized hyperpigmentation", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-hyperpigmentation" }, { "slug": "hypermelanotic-macule", "name": "Hyperpigmented skin patches", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/hypermelanotic-macule" }, { "slug": "hypopigmented-macule", "name": "Hypopigmented macule", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypopigmented-macule" }, { "slug": "pruritus", "name": "Itching", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pruritus" } ], "related": [ { "slug": "apoa1", "symbol": "APOA1", "name": "apolipoprotein A1", "shared": 1, "url": "https://dantelabs.com/es/genes/apoa1" }, { "slug": "apoa4", "symbol": "APOA4", "name": "apolipoprotein A4", "shared": 1, "url": "https://dantelabs.com/es/genes/apoa4" }, { "slug": "app", "symbol": "APP", "name": "amyloid beta precursor protein", "shared": 1, "url": "https://dantelabs.com/es/genes/app" }, { "slug": "b2m", "symbol": "B2M", "name": "beta-2-microglobulin", "shared": 1, "url": "https://dantelabs.com/es/genes/b2m" }, { "slug": "cst3", "symbol": "CST3", "name": "cystatin C", "shared": 1, "url": "https://dantelabs.com/es/genes/cst3" }, { "slug": "fga", "symbol": "FGA", "name": "fibrinogen alpha chain", "shared": 1, "url": "https://dantelabs.com/es/genes/fga" }, { "slug": "gsn", "symbol": "GSN", "name": "gelsolin", "shared": 1, "url": "https://dantelabs.com/es/genes/gsn" }, { "slug": "itm2b", "symbol": "ITM2B", "name": "integral membrane protein 2B", "shared": 1, "url": "https://dantelabs.com/es/genes/itm2b" }, { "slug": "lyz", "symbol": "LYZ", "name": "lysozyme", "shared": 1, "url": "https://dantelabs.com/es/genes/lyz" }, { "slug": "osmr", "symbol": "OSMR", "name": "oncostatin M receptor", "shared": 1, "url": "https://dantelabs.com/es/genes/osmr" }, { "slug": "ttr", "symbol": "TTR", "name": "transthyretin", "shared": 1, "url": "https://dantelabs.com/es/genes/ttr" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }