{ "url": "https://dantelabs.com/nl/genes/dnah12", "gene": { "slug": "dnah12", "symbol": "DNAH12", "name": "dynein axonemal heavy chain 12", "hgnc": "HGNC:2943", "summary": null, "location": "3p14.3", "locusType": "gene with protein product", "aliases": [ "DLP12", "Dnahc3", "HL-19", "hdhc3", "DHC3", "FLJ40427", "FLJ44290" ], "previousSymbols": [ "DNHD2", "DNAH12L", "DNAH7L" ], "ensemblId": "ENSG00000174844", "entrezId": 201625, "omim": [ "603340" ], "uniprot": [ "Q6ZR08" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "3", "start": 57293700, "end": 57544344, "strand": "-", "ensemblTranscript": "ENST00000495027.6", "refseqTranscript": "NM_001366028.2", "ensemblProtein": "ENSP00000418137.2", "refseqProtein": "NP_001352957.1", "exons": [ { "start": 57293700, "end": 57293971 }, { "start": 57295525, "end": 57295592 }, { "start": 57296344, "end": 57296435 }, { "start": 57296847, "end": 57296984 }, { "start": 57301735, "end": 57301939 }, { "start": 57309151, "end": 57309254 }, { "start": 57309666, "end": 57309854 }, { "start": 57310717, "end": 57310950 }, { "start": 57314494, "end": 57314631 }, { "start": 57322343, "end": 57322483 }, { "start": 57323007, "end": 57323260 }, { "start": 57323469, "end": 57323619 }, { "start": 57334465, "end": 57334609 }, { "start": 57334782, "end": 57334940 }, { "start": 57352085, "end": 57352225 }, { "start": 57357176, "end": 57357348 }, { "start": 57363594, "end": 57363786 }, { "start": 57366729, "end": 57366921 }, { "start": 57368046, "end": 57368260 }, { "start": 57375371, "end": 57375516 }, { "start": 57375818, "end": 57375965 }, { "start": 57376981, "end": 57377222 }, { "start": 57379158, "end": 57379298 }, { "start": 57380278, "end": 57380367 }, { "start": 57382262, "end": 57382393 }, { "start": 57384829, "end": 57385005 }, { "start": 57385349, "end": 57385429 }, { "start": 57386441, "end": 57386603 }, { "start": 57387086, "end": 57387219 }, { "start": 57391872, "end": 57392066 }, { "start": 57394171, "end": 57394332 }, { "start": 57403309, "end": 57403501 }, { "start": 57404969, "end": 57405147 }, { "start": 57405653, "end": 57405952 }, { "start": 57408280, "end": 57408535 }, { "start": 57413746, "end": 57413912 }, { "start": 57415426, "end": 57415564 }, { "start": 57419367, "end": 57419518 }, { "start": 57421518, "end": 57421706 }, { "start": 57425022, "end": 57425141 }, { "start": 57428633, "end": 57428821 }, { "start": 57429691, "end": 57429774 }, { "start": 57433367, "end": 57433507 }, { "start": 57433645, "end": 57433828 }, { "start": 57436951, "end": 57437060 }, { "start": 57444697, "end": 57444816 }, { "start": 57445174, "end": 57445419 }, { "start": 57446031, "end": 57446270 }, { "start": 57446537, "end": 57446689 }, { "start": 57452843, "end": 57453015 }, { "start": 57453247, "end": 57453403 }, { "start": 57454775, "end": 57454894 }, { "start": 57457721, "end": 57458003 }, { "start": 57458099, "end": 57458220 }, { "start": 57459592, "end": 57459786 }, { "start": 57461489, "end": 57461689 }, { "start": 57462690, "end": 57462875 }, { "start": 57468736, "end": 57468979 }, { "start": 57470443, "end": 57470636 }, { "start": 57471472, "end": 57471606 }, { "start": 57472546, "end": 57472671 }, { "start": 57483376, "end": 57483511 }, { "start": 57489509, "end": 57489687 }, { "start": 57501321, "end": 57501412 }, { "start": 57502323, "end": 57502479 }, { "start": 57504016, "end": 57504204 }, { "start": 57507643, "end": 57507838 }, { "start": 57508382, "end": 57508540 }, { "start": 57509140, "end": 57509212 }, { "start": 57510790, "end": 57510979 }, { "start": 57523583, "end": 57523609 }, { "start": 57523803, "end": 57523884 }, { "start": 57542701, "end": 57542903 }, { "start": 57544197, "end": 57544344 } ], "cds": { "start": 57293781, "end": 57542870 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "3", "start": 57327727, "end": 57530071, "strand": "-" }, "neighbourhood": { "release": "116", "start": 56919022, "end": 57919021, "genes": [ { "symbol": "ARHGEF3", "ensemblId": "ENSG00000163947", "biotype": "protein_coding", "start": 56727414, "end": 57079329, "strand": "-", "slug": "arhgef3" }, { "symbol": "SPATA12", "ensemblId": "ENSG00000186451", "biotype": "protein_coding", "start": 57060659, "end": 57075530, "strand": "+", "slug": "spata12" }, { "symbol": "IL17RD", "ensemblId": "ENSG00000144730", "biotype": "protein_coding", "start": 57089982, "end": 57170306, "strand": "-", "slug": "il17rd" }, { "symbol": "HESX1", "ensemblId": "ENSG00000163666", "biotype": "protein_coding", "start": 57182073, "end": 57227621, "strand": "-", "slug": "hesx1" }, { "symbol": "APPL1", "ensemblId": "ENSG00000157500", "biotype": "protein_coding", "start": 57227708, "end": 57289540, "strand": "+", "slug": "appl1" }, { "symbol": "ASB14", "ensemblId": "ENSG00000239388", "biotype": "protein_coding", "start": 57268342, "end": 57292693, "strand": "-", "slug": "asb14" }, { "symbol": "PDE12", "ensemblId": "ENSG00000174840", "biotype": "protein_coding", "start": 57556249, "end": 57656494, "strand": "+", "slug": "pde12" }, { "symbol": "ARF4", "ensemblId": "ENSG00000168374", "biotype": "protein_coding", "start": 57571363, "end": 57598220, "strand": "-", "slug": "arf4" }, { "symbol": "DENND6A", "ensemblId": "ENSG00000174839", "biotype": "protein_coding", "start": 57625454, "end": 57693127, "strand": "-", "slug": "dennd6a" }, { "symbol": "SLMAP", "ensemblId": "ENSG00000163681", "biotype": "protein_coding", "start": 57755450, "end": 57931461, "strand": "+", "slug": "slmap" } ], "truncated": false }, "reports": [ { "slug": "male-infertility", "name": "Mannelijke onvruchtbaarheid", "diseases": [ { "mondoId": "MONDO:0005372", "name": "Mannelijke onvruchtbaarheid", "genes": 41, "inheritance": null, "description": "Het onvermogen van de man om na een bepaalde periode van onbeschermde geslachtsgemeenschap een eicel te bevruchten. Mannelijke steriliteit is permanente onvruchtbaarheid.", "management": null, "evidence": { "gencc": [ "ClinGen" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/nl/conditions/male-infertility" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "absent-sperm-flagella", "name": "Absent sperm flagella", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/absent-sperm-flagella" }, { "slug": "bent-sperm-flagella", "name": "Bent sperm flagella", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bent-sperm-flagella" }, { "slug": "coiled-sperm-flagella", "name": "Coiled sperm flagella", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/coiled-sperm-flagella" }, { "slug": "irregularly-shaped-sperm-tail", "name": "Irregularly shaped sperm tail", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/irregularly-shaped-sperm-tail" }, { "slug": "oligozoospermia", "name": "Low sperm count", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oligozoospermia" }, { "slug": "male-infertility", "name": "Male infertility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/male-infertility" }, { "slug": "reduced-progressive-sperm-motility", "name": "Reduced progressive sperm motility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-progressive-sperm-motility" }, { "slug": "reduced-sperm-motility", "name": "Reduced sperm motility", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-sperm-motility" }, { "slug": "short-sperm-flagella", "name": "Short sperm flagella", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-sperm-flagella" } ], "related": [ { "slug": "actl9", "symbol": "ACTL9", "name": "actin like 9", "shared": 1, "url": "https://dantelabs.com/nl/genes/actl9" }, { "slug": "armc2", "symbol": "ARMC2", "name": "armadillo repeat containing 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/armc2" }, { "slug": "aurkc", "symbol": "AURKC", "name": "aurora kinase C", "shared": 1, "url": "https://dantelabs.com/nl/genes/aurkc" }, { "slug": "bcorl1", "symbol": "BCORL1", "name": "BCL6 corepressor like 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/bcorl1" }, { "slug": "cfap251", "symbol": "CFAP251", "name": "cilia and flagella associated protein 251", "shared": 1, "url": "https://dantelabs.com/nl/genes/cfap251" }, { "slug": "cfap43", "symbol": "CFAP43", "name": "cilia and flagella associated protein 43", "shared": 1, "url": "https://dantelabs.com/nl/genes/cfap43" }, { "slug": "dmc1", "symbol": "DMC1", "name": "DNA meiotic recombinase 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/dmc1" }, { "slug": "dmrt1", "symbol": "DMRT1", "name": "doublesex and mab-3 related transcription factor 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/dmrt1" }, { "slug": "dnah1", "symbol": "DNAH1", "name": "dynein axonemal heavy chain 1", "shared": 1, "url": "https://dantelabs.com/nl/genes/dnah1" }, { "slug": "dnah10", "symbol": "DNAH10", "name": "dynein axonemal heavy chain 10", "shared": 1, "url": "https://dantelabs.com/nl/genes/dnah10" }, { "slug": "dnah17", "symbol": "DNAH17", "name": "dynein axonemal heavy chain 17", "shared": 1, "url": "https://dantelabs.com/nl/genes/dnah17" }, { "slug": "dnah2", "symbol": "DNAH2", "name": "dynein axonemal heavy chain 2", "shared": 1, "url": "https://dantelabs.com/nl/genes/dnah2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }