{ "url": "https://dantelabs.com/es/genes/cd151", "gene": { "slug": "cd151", "symbol": "CD151", "name": "CD151 molecule (Raph blood group)", "hgnc": "HGNC:1630", "summary": null, "location": "11p15.5", "locusType": "gene with protein product", "aliases": [ "SFA-1", "PETA-3", "TSPAN24", "RAPH" ], "previousSymbols": [], "ensemblId": "ENSG00000177697", "entrezId": 977, "omim": [ "602243" ], "uniprot": [ "P48509" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 832952, "end": 838831, "strand": "+", "ensemblTranscript": "ENST00000397420.9", "refseqTranscript": "NM_004357.5", "ensemblProtein": "ENSP00000380565.3", "refseqProtein": "NP_004348.2", "exons": [ { "start": 832952, "end": 833026 }, { "start": 834530, "end": 834591 }, { "start": 836063, "end": 836153 }, { "start": 836251, "end": 836442 }, { "start": 836769, "end": 836843 }, { "start": 837250, "end": 837354 }, { "start": 837460, "end": 837618 }, { "start": 837942, "end": 838028 }, { "start": 838133, "end": 838831 } ], "cds": { "start": 836070, "end": 838192 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 832843, "end": 839831, "strand": "+" }, "neighbourhood": { "release": "116", "start": 335892, "end": 1335891, "genes": [ { "symbol": "B4GALNT4", "ensemblId": "ENSG00000182272", "biotype": "protein_coding", "start": 369457, "end": 382117, "strand": "+", "slug": "b4galnt4" }, { "symbol": "PKP3", "ensemblId": "ENSG00000184363", "biotype": "protein_coding", "start": 392574, "end": 404908, "strand": "+", "slug": "pkp3" }, { "symbol": "SIGIRR", "ensemblId": "ENSG00000185187", "biotype": "protein_coding", "start": 405711, "end": 417473, "strand": "-", "slug": "sigirr" }, { "symbol": "ANO9", "ensemblId": "ENSG00000185101", "biotype": "protein_coding", "start": 417921, "end": 442072, "strand": "-", "slug": "ano9" }, { "symbol": "PTDSS2", "ensemblId": "ENSG00000174915", "biotype": "protein_coding", "start": 448268, "end": 501142, "strand": "+", "slug": "ptdss2" }, { "symbol": "RNH1", "ensemblId": "ENSG00000023191", "biotype": "protein_coding", "start": 494510, "end": 507395, "strand": "-", "slug": "rnh1" }, { "symbol": "HRAS", "ensemblId": "ENSG00000174775", "biotype": "protein_coding", "start": 532242, "end": 537343, "strand": "-", "slug": "hras" }, { "symbol": "LRRC56", "ensemblId": "ENSG00000161328", "biotype": "protein_coding", "start": 536841, "end": 554925, "strand": "+", "slug": "lrrc56" }, { "symbol": "LMNTD2", "ensemblId": "ENSG00000185522", "biotype": "protein_coding", "start": 554850, "end": 560743, "strand": "-", "slug": "lmntd2" }, { "symbol": "RASSF7", "ensemblId": "ENSG00000099849", "biotype": "protein_coding", "start": 560207, "end": 564067, "strand": "+", "slug": "rassf7" }, { "symbol": "PHRF1", "ensemblId": "ENSG00000070047", "biotype": "protein_coding", "start": 576170, "end": 612263, "strand": "+", "slug": "phrf1" }, { "symbol": "IRF7", "ensemblId": "ENSG00000185507", "biotype": "protein_coding", "start": 612551, "end": 615983, "strand": "-", "slug": "irf7" }, { "symbol": "CDHR5", "ensemblId": "ENSG00000099834", "biotype": "protein_coding", "start": 616405, "end": 626078, "strand": "-", "slug": "cdhr5" }, { "symbol": "SCT", "ensemblId": "ENSG00000070031", "biotype": "protein_coding", "start": 626309, "end": 627236, "strand": "-", "slug": "sct" }, { "symbol": "DRD4", "ensemblId": "ENSG00000069696", "biotype": "protein_coding", "start": 637269, "end": 640706, "strand": "+", "slug": "drd4" }, { "symbol": "DEAF1", "ensemblId": "ENSG00000177030", "biotype": "protein_coding", "start": 644220, "end": 707118, "strand": "-", "slug": "deaf1" }, { "symbol": "EPS8L2", "ensemblId": "ENSG00000177106", "biotype": "protein_coding", "start": 694438, "end": 727729, "strand": "+", "slug": "eps8l2" }, { "symbol": "TMEM80", "ensemblId": "ENSG00000177042", "biotype": "protein_coding", "start": 695011, "end": 705028, "strand": "+", "slug": "tmem80" }, { "symbol": "TALDO1", "ensemblId": "ENSG00000177156", "biotype": "protein_coding", "start": 747399, "end": 765035, "strand": "+", "slug": "taldo1" }, { "symbol": "GATD1", "ensemblId": "ENSG00000177225", "biotype": "protein_coding", "start": 767061, "end": 777507, "strand": "-", "slug": "gatd1" }, { "symbol": "CEND1", "ensemblId": "ENSG00000184524", "biotype": "protein_coding", "start": 785900, "end": 790113, "strand": "-", "slug": "cend1" }, { "symbol": "SLC25A22", "ensemblId": "ENSG00000177542", "biotype": "protein_coding", "start": 790474, "end": 798321, "strand": "-", "slug": "slc25a22" }, { "symbol": "PANO1", "ensemblId": "ENSG00000288675", "biotype": "protein_coding", "start": 797511, "end": 799190, "strand": "+", "slug": "pano1" }, { "symbol": "PIDD1", "ensemblId": "ENSG00000177595", "biotype": "protein_coding", "start": 798938, "end": 809753, "strand": "-", "slug": "pidd1" }, { "symbol": "RPLP2", "ensemblId": "ENSG00000177600", "biotype": "protein_coding", "start": 799414, "end": 812891, "strand": "+", "slug": "rplp2" }, { "symbol": "", "ensemblId": "ENSG00000293685", "biotype": "protein_coding", "start": 803398, "end": 804419, "strand": "-" }, { "symbol": "PNPLA2", "ensemblId": "ENSG00000177666", "biotype": "protein_coding", "start": 818907, "end": 825573, "strand": "+", "slug": "pnpla2" }, { "symbol": "CRACR2B", "ensemblId": "ENSG00000177685", "biotype": "protein_coding", "start": 826137, "end": 831993, "strand": "+", "slug": "cracr2b" }, { "symbol": "POLR2L", "ensemblId": "ENSG00000177700", "biotype": "protein_coding", "start": 837356, "end": 842727, "strand": "-", "slug": "polr2l" }, { "symbol": "TSPAN4", "ensemblId": "ENSG00000214063", "biotype": "protein_coding", "start": 840686, "end": 867120, "strand": "+", "slug": "tspan4" }, { "symbol": "CHID1", "ensemblId": "ENSG00000177830", "biotype": "protein_coding", "start": 866873, "end": 915579, "strand": "-", "slug": "chid1" }, { "symbol": "AP2A2", "ensemblId": "ENSG00000183020", "biotype": "protein_coding", "start": 924881, "end": 1012245, "strand": "+", "slug": "ap2a2" }, { "symbol": "MUC6", "ensemblId": "ENSG00000184956", "biotype": "protein_coding", "start": 1012823, "end": 1036718, "strand": "-", "slug": "muc6" }, { "symbol": "MUC2", "ensemblId": "ENSG00000198788", "biotype": "protein_coding", "start": 1074875, "end": 1110511, "strand": "+", "slug": "muc2" }, { "symbol": "MUC5AC", "ensemblId": "ENSG00000215182", "biotype": "protein_coding", "start": 1157953, "end": 1201138, "strand": "+", "slug": "muc5ac" }, { "symbol": "MUC5B", "ensemblId": "ENSG00000117983", "biotype": "protein_coding", "start": 1223066, "end": 1262172, "strand": "+", "slug": "muc5b" }, { "symbol": "TOLLIP", "ensemblId": "ENSG00000078902", "biotype": "protein_coding", "start": 1264771, "end": 1310258, "strand": "-", "slug": "tollip" } ], "truncated": false }, "reports": [ { "slug": "epidermolysis-bullosa", "name": "Epidermólisis bullosa", "diseases": [ { "mondoId": "MONDO:0019276", "name": "Epidermólisis bullosa hereditaria", "genes": 19, "inheritance": null, "description": "Todas las formas hereditarias de fragilidad cutánea con formación de ampollas, incluidas la epidermólisis bullosa simple, la de unión y la distrófica, así como el síndrome de Kindler.", "management": "Las formas distróficas recesivas requieren un seguimiento periódico para detectar cáncer de piel, y actualmente existe una terapia de cicatrización basada en genes para la epidermólisis bullosa distrófica.", "evidence": { "gencc": [ "G2P" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/es/conditions/epidermolysis-bullosa" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "glomerular-basement-membrane-disruption", "name": "Glomerular basement membrane disruption", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/glomerular-basement-membrane-disruption" }, { "slug": "nephritis", "name": "Kidney inflammation", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/nephritis" }, { "slug": "lacrimal-duct-stenosis", "name": "Narrowing of the tear duct", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/lacrimal-duct-stenosis" }, { "slug": "nail-dystrophy", "name": "Poor nail formation", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/nail-dystrophy" }, { "slug": "pretibial-blistering", "name": "Pretibial blistering", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pretibial-blistering" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "stage-5-chronic-kidney-disease", "name": "Stage 5 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease" }, { "slug": "thickened-glomerular-basement-membrane", "name": "Thickened glomerular basement membrane", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thickened-glomerular-basement-membrane" } ], "related": [ { "slug": "col17a1", "symbol": "COL17A1", "name": "collagen type XVII alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/es/genes/col17a1" }, { "slug": "col7a1", "symbol": "COL7A1", "name": "collagen type VII alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/es/genes/col7a1" }, { "slug": "dsp", "symbol": "DSP", "name": "desmoplakin", "shared": 1, "url": "https://dantelabs.com/es/genes/dsp" }, { "slug": "dst", "symbol": "DST", "name": "dystonin", "shared": 1, "url": "https://dantelabs.com/es/genes/dst" }, { "slug": "exph5", "symbol": "EXPH5", "name": "exophilin 5", "shared": 1, "url": "https://dantelabs.com/es/genes/exph5" }, { "slug": "fermt1", "symbol": "FERMT1", "name": "FERM domain containing kindlin 1", "shared": 1, "url": "https://dantelabs.com/es/genes/fermt1" }, { "slug": "itga3", "symbol": "ITGA3", "name": "integrin subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/es/genes/itga3" }, { "slug": "itga6", "symbol": "ITGA6", "name": "integrin subunit alpha 6", "shared": 1, "url": "https://dantelabs.com/es/genes/itga6" }, { "slug": "itgb4", "symbol": "ITGB4", "name": "integrin subunit beta 4", "shared": 1, "url": "https://dantelabs.com/es/genes/itgb4" }, { "slug": "jup", "symbol": "JUP", "name": "junction plakoglobin", "shared": 1, "url": "https://dantelabs.com/es/genes/jup" }, { "slug": "klhl24", "symbol": "KLHL24", "name": "kelch like family member 24", "shared": 1, "url": "https://dantelabs.com/es/genes/klhl24" }, { "slug": "krt14", "symbol": "KRT14", "name": "keratin 14", "shared": 1, "url": "https://dantelabs.com/es/genes/krt14" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }