{ "url": "https://dantelabs.com/lt/genes/ceacam16", "gene": { "slug": "ceacam16", "symbol": "CEACAM16", "name": "CEA cell adhesion molecule 16, tectorial membrane component", "hgnc": "HGNC:31948", "summary": null, "location": "19q13.31-q13.32", "locusType": "gene with protein product", "aliases": [ "DFNA4B" ], "previousSymbols": [], "ensemblId": "ENSG00000213892", "entrezId": 388551, "omim": [ "614591" ], "uniprot": [ "Q2WEN9" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 44699151, "end": 44710718, "strand": "+", "ensemblTranscript": "ENST00000587331.7", "refseqTranscript": "NM_001039213.4", "ensemblProtein": "ENSP00000466561.1", "refseqProtein": "NP_001034302.2", "exons": [ { "start": 44699151, "end": 44699260 }, { "start": 44701361, "end": 44701493 }, { "start": 44703349, "end": 44703693 }, { "start": 44704018, "end": 44704296 }, { "start": 44705590, "end": 44705868 }, { "start": 44707861, "end": 44708187 }, { "start": 44710496, "end": 44710718 } ], "cds": { "start": 44701457, "end": 44710506 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 45202421, "end": 45213986, "strand": "+" }, "neighbourhood": { "release": "116", "start": 44204935, "end": 45204934, "genes": [ { "symbol": "ZNF227", "ensemblId": "ENSG00000131115", "biotype": "protein_coding", "start": 44207475, "end": 44238179, "strand": "+", "slug": "znf227" }, { "symbol": "ZNF235", "ensemblId": "ENSG00000159917", "biotype": "protein_coding", "start": 44228729, "end": 44305046, "strand": "-", "slug": "znf235" }, { "symbol": "ZNF233", "ensemblId": "ENSG00000159915", "biotype": "protein_coding", "start": 44259863, "end": 44277043, "strand": "+", "slug": "znf233" }, { "symbol": "ZNF112", "ensemblId": "ENSG00000062370", "biotype": "protein_coding", "start": 44307664, "end": 44367217, "strand": "-", "slug": "znf112" }, { "symbol": "", "ensemblId": "ENSG00000267173", "biotype": "protein_coding", "start": 44329695, "end": 44401608, "strand": "-" }, { "symbol": "ZNF285", "ensemblId": "ENSG00000267508", "biotype": "protein_coding", "start": 44382298, "end": 44401624, "strand": "-", "slug": "znf285" }, { "symbol": "ZNF229", "ensemblId": "ENSG00000278318", "biotype": "protein_coding", "start": 44417519, "end": 44448578, "strand": "-", "slug": "znf229" }, { "symbol": "ZNF180", "ensemblId": "ENSG00000167384", "biotype": "protein_coding", "start": 44470957, "end": 44500547, "strand": "-", "slug": "znf180" }, { "symbol": "CEACAM20", "ensemblId": "ENSG00000273777", "biotype": "protein_coding", "start": 44501677, "end": 44529788, "strand": "-", "slug": "ceacam20" }, { "symbol": "IGSF23", "ensemblId": "ENSG00000216588", "biotype": "protein_coding", "start": 44613563, "end": 44636787, "strand": "+", "slug": "igsf23" }, { "symbol": "PVR", "ensemblId": "ENSG00000073008", "biotype": "protein_coding", "start": 44643798, "end": 44666162, "strand": "+", "slug": "pvr" }, { "symbol": "CEACAM19", "ensemblId": "ENSG00000186567", "biotype": "protein_coding", "start": 44662278, "end": 44684370, "strand": "+", "slug": "ceacam19" }, { "symbol": "BCL3", "ensemblId": "ENSG00000069399", "biotype": "protein_coding", "start": 44747705, "end": 44760044, "strand": "+", "slug": "bcl3" }, { "symbol": "CBLC", "ensemblId": "ENSG00000142273", "biotype": "protein_coding", "start": 44777845, "end": 44802301, "strand": "+", "slug": "cblc" }, { "symbol": "BCAM", "ensemblId": "ENSG00000187244", "biotype": "protein_coding", "start": 44809040, "end": 44821421, "strand": "+", "slug": "bcam" }, { "symbol": "NECTIN2", "ensemblId": "ENSG00000130202", "biotype": "protein_coding", "start": 44846175, "end": 44890134, "strand": "+", "slug": "nectin2" }, { "symbol": "TOMM40", "ensemblId": "ENSG00000130204", "biotype": "protein_coding", "start": 44890569, "end": 44903695, "strand": "+", "slug": "tomm40" }, { "symbol": "APOE", "ensemblId": "ENSG00000130203", "biotype": "protein_coding", "start": 44903787, "end": 44909396, "strand": "+", "slug": "apoe" }, { "symbol": "APOC1", "ensemblId": "ENSG00000130208", "biotype": "protein_coding", "start": 44913133, "end": 44920054, "strand": "+", "slug": "apoc1" }, { "symbol": "APOC2", "ensemblId": "ENSG00000234906", "biotype": "protein_coding", "start": 44936126, "end": 44949585, "strand": "+", "slug": "apoc2" }, { "symbol": "APOC4", "ensemblId": "ENSG00000267467", "biotype": "protein_coding", "start": 44942234, "end": 44945496, "strand": "+", "slug": "apoc4" }, { "symbol": "APOC4-APOC2", "ensemblId": "ENSG00000224916", "biotype": "protein_coding", "start": 44942238, "end": 44949565, "strand": "+", "slug": "apoc4-apoc2" }, { "symbol": "CLPTM1", "ensemblId": "ENSG00000104853", "biotype": "protein_coding", "start": 44954585, "end": 44993342, "strand": "+", "slug": "clptm1" }, { "symbol": "RELB", "ensemblId": "ENSG00000104856", "biotype": "protein_coding", "start": 45001431, "end": 45038194, "strand": "+", "slug": "relb" }, { "symbol": "CLASRP", "ensemblId": "ENSG00000104859", "biotype": "protein_coding", "start": 45039042, "end": 45070956, "strand": "+", "slug": "clasrp" }, { "symbol": "ZNF296", "ensemblId": "ENSG00000170684", "biotype": "protein_coding", "start": 45071500, "end": 45076485, "strand": "-", "slug": "znf296" }, { "symbol": "GEMIN7", "ensemblId": "ENSG00000142252", "biotype": "protein_coding", "start": 45075575, "end": 45091518, "strand": "+", "slug": "gemin7" }, { "symbol": "MARK4", "ensemblId": "ENSG00000007047", "biotype": "protein_coding", "start": 45079288, "end": 45305284, "strand": "+", "slug": "mark4" }, { "symbol": "PPP1R37", "ensemblId": "ENSG00000104866", "biotype": "protein_coding", "start": 45091396, "end": 45148077, "strand": "+", "slug": "ppp1r37" }, { "symbol": "NKPD1", "ensemblId": "ENSG00000179846", "biotype": "protein_coding", "start": 45149744, "end": 45160982, "strand": "-", "slug": "nkpd1" }, { "symbol": "BLOC1S3", "ensemblId": "ENSG00000189114", "biotype": "protein_coding", "start": 45152811, "end": 45216933, "strand": "+", "slug": "bloc1s3" }, { "symbol": "TRAPPC6A", "ensemblId": "ENSG00000007255", "biotype": "protein_coding", "start": 45162928, "end": 45178268, "strand": "-", "slug": "trappc6a" } ], "truncated": false }, "reports": [ { "slug": "hearing-loss-and-deafness", "name": "Klausos ir kurtumas", "diseases": [ { "mondoId": "MONDO:0019587", "name": "Autosominis dominantinis nesindrominis klausos sutrikimas", "genes": 39, "inheritance": "autosomal-dominant", "description": "Autosominė dominantinė nesindrominio kurtumo forma.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0019497", "name": "Nesindrominė paveldima klausos netekimas", "genes": 97, "inheritance": null, "description": "Paveldimas klausos netekimas be kitų medicininių požymių, įskaitant dažniausias recesyvines formas, kurias sukelia GJB2, OTOF, SLC26A4, STRC ir daugelis kitų genų, taip pat dominantines, X chromosomai susietas ir mitochondrines formas.", "management": "Žinojimas apie genetinę priežastį gali padėti priimti sprendimus dėl klausos pagalbos ir kochlearinio implanto, nustatyti tinkamumą genų terapijos tyrimams (pavyzdžiui, OTOF) bei suteikti konsultacijas šeimai.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Strong", "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/lt/conditions/hearing-loss-and-deafness" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" } ], "related": [ { "slug": "actg1", "symbol": "ACTG1", "name": "actin gamma 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/actg1" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 2, "url": "https://dantelabs.com/lt/genes/atp11a" }, { "slug": "atp2b2", "symbol": "ATP2B2", "name": "ATPase plasma membrane Ca2+ transporting 2", "shared": 2, "url": "https://dantelabs.com/lt/genes/atp2b2" }, { "slug": "cd164", "symbol": "CD164", "name": "CD164 molecule", "shared": 2, "url": "https://dantelabs.com/lt/genes/cd164" }, { "slug": "coch", "symbol": "COCH", "name": "cochlin", "shared": 2, "url": "https://dantelabs.com/lt/genes/coch" }, { "slug": "col11a1", "symbol": "COL11A1", "name": "collagen type XI alpha 1 chain", "shared": 2, "url": "https://dantelabs.com/lt/genes/col11a1" }, { "slug": "col11a2", "symbol": "COL11A2", "name": "collagen type XI alpha 2 chain", "shared": 2, "url": "https://dantelabs.com/lt/genes/col11a2" }, { "slug": "diaph1", "symbol": "DIAPH1", "name": "diaphanous related formin 1", "shared": 2, "url": "https://dantelabs.com/lt/genes/diaph1" }, { "slug": "eya4", "symbol": "EYA4", "name": "EYA transcriptional coactivator and phosphatase 4", "shared": 2, "url": "https://dantelabs.com/lt/genes/eya4" }, { "slug": "gjb2", "symbol": "GJB2", "name": "gap junction protein beta 2", "shared": 2, "url": "https://dantelabs.com/lt/genes/gjb2" }, { "slug": "gjb6", "symbol": "GJB6", "name": "gap junction protein beta 6", "shared": 2, "url": "https://dantelabs.com/lt/genes/gjb6" }, { "slug": "greb1l", "symbol": "GREB1L", "name": "GREB1 like retinoic acid receptor coactivator", "shared": 2, "url": "https://dantelabs.com/lt/genes/greb1l" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }