{ "url": "https://dantelabs.com/tr/genes/tnni3k", "gene": { "slug": "tnni3k", "symbol": "TNNI3K", "name": "TNNI3 interacting kinase", "hgnc": "HGNC:19661", "summary": null, "location": "1p31.1", "locusType": "gene with protein product", "aliases": [ "CARK" ], "previousSymbols": [], "ensemblId": "ENSG00000116783", "entrezId": 51086, "omim": [ "613932" ], "uniprot": [ "Q59H18" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 74235387, "end": 74544428, "strand": "+", "ensemblTranscript": "ENST00000326637.8", "refseqTranscript": "NM_015978.3", "ensemblProtein": "ENSP00000322251.3", "refseqProtein": "NP_057062.1", "exons": [ { "start": 74235387, "end": 74235491 }, { "start": 74236102, "end": 74236210 }, { "start": 74249459, "end": 74249544 }, { "start": 74250672, "end": 74250769 }, { "start": 74271598, "end": 74271708 }, { "start": 74331450, "end": 74331548 }, { "start": 74336011, "end": 74336149 }, { "start": 74342842, "end": 74342986 }, { "start": 74343075, "end": 74343179 }, { "start": 74353266, "end": 74353360 }, { "start": 74353980, "end": 74354129 }, { "start": 74367256, "end": 74367342 }, { "start": 74367908, "end": 74367964 }, { "start": 74369022, "end": 74369114 }, { "start": 74369207, "end": 74369264 }, { "start": 74369391, "end": 74369585 }, { "start": 74370288, "end": 74370392 }, { "start": 74436080, "end": 74436132 }, { "start": 74436474, "end": 74436526 }, { "start": 74439490, "end": 74439622 }, { "start": 74463441, "end": 74463550 }, { "start": 74489189, "end": 74489248 }, { "start": 74492097, "end": 74492266 }, { "start": 74540234, "end": 74540313 }, { "start": 74543906, "end": 74544428 } ], "cds": { "start": 74235452, "end": 74543982 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 74663947, "end": 75010112, "strand": "+" }, "neighbourhood": { "release": "116", "start": 73889908, "end": 74889907, "genes": [ { "symbol": "LRRIQ3", "ensemblId": "ENSG00000162620", "biotype": "protein_coding", "start": 74026015, "end": 74198196, "strand": "-", "slug": "lrriq3" }, { "symbol": "FPGT", "ensemblId": "ENSG00000254685", "biotype": "protein_coding", "start": 74198210, "end": 74234415, "strand": "+", "slug": "fpgt" }, { "symbol": "FPGT-TNNI3K", "ensemblId": "ENSG00000259030", "biotype": "protein_coding", "start": 74198235, "end": 74544393, "strand": "+", "slug": "fpgt-tnni3k" }, { "symbol": "LRRC53", "ensemblId": "ENSG00000162621", "biotype": "protein_coding", "start": 74469376, "end": 74512611, "strand": "-", "slug": "lrrc53" }, { "symbol": "ERICH3", "ensemblId": "ENSG00000178965", "biotype": "protein_coding", "start": 74568117, "end": 74673922, "strand": "-", "slug": "erich3" }, { "symbol": "CRYZ", "ensemblId": "ENSG00000116791", "biotype": "protein_coding", "start": 74700529, "end": 74733128, "strand": "-", "slug": "cryz" }, { "symbol": "TYW3", "ensemblId": "ENSG00000162623", "biotype": "protein_coding", "start": 74733114, "end": 74767555, "strand": "+", "slug": "tyw3" } ], "truncated": false }, "reports": [ { "slug": "cardiac-conduction-disease-sick-sinus-syndrome", "name": "Progresif Kardiyak İletim Hastalığı ve Sinüs Düğümü Sendromu", "diseases": [ { "mondoId": "MONDO:0014500", "name": "Atriyal İletim Hastalığı", "genes": 1, "inheritance": "autosomal-dominant", "description": "Kalbin üst odacıklarındaki elektriksel iletimin bozulduğu, atriyal durmaya ve yavaş ritimlere yol açabilen bir bozukluktur.", "management": null, "evidence": { "gencc": [ "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0700388", "name": "TNNI3K ile İlişkili Kardiyak İletim Hastalığı", "genes": 1, "inheritance": "autosomal-dominant", "description": "TNNI3K'deki değişikliklerden kaynaklanan, bazen dilate kardiyomiyopati ile birlikte görülen, iletim hastalığı ile atriyal ritim bozukluklarını bir arada içeren bir durumdur.", "management": "Bu durumun bilinmesi EKG ve kalp kası takibini desteklemektedir.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/cardiac-conduction-disease-sick-sinus-syndrome" }, { "slug": "dilated-cardiomyopathy", "name": "Dilate Kardiyomiyopati", "diseases": [ { "mondoId": "MONDO:0005021", "name": "Dilate Kardiyomiyopati", "genes": 50, "inheritance": null, "description": "Koroner arter veya kapak hastalığıyla açıklanamayan, sol ventrikülün genişleyip zayıflaması; kalıtsal formlar TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN ve diğer birçok genle ilişkilidir ve Barth sendromu ile Emery-Dreifuss kas distrofilerini içerir.", "management": "Genetik bir nedenin bilinmesi, kalp takibinin daha erken başlamasına ve aile taramasının yapılmasına destek olur. LMNA, FLNC ve RBM20 gibi yüksek aritmi riski taşıyan genler için ise ritim takibi ve implante edilebilir defibrilatör kararlarında yol gösterici olur.", "evidence": { "gencc": [], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/tr/conditions/dilated-cardiomyopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "atrial-arrhythmia", "name": "Atrial arrhythmia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/atrial-arrhythmia" }, { "slug": "atrial-flutter", "name": "Atrial flutter", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/atrial-flutter" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "complete-right-bundle-branch-block", "name": "Complete right bundle branch block", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/complete-right-bundle-branch-block" }, { "slug": "tachycardia", "name": "Elevated heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/tachycardia" }, { "slug": "paroxysmal-supraventricular-tachycardia", "name": "Episodic rapid heart beat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/paroxysmal-supraventricular-tachycardia" }, { "slug": "premature-ventricular-contraction", "name": "Extra heart beat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/premature-ventricular-contraction" }, { "slug": "cardiac-arrest", "name": "Heart stops beating", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/cardiac-arrest" }, { "slug": "left-anterior-fascicular-block", "name": "Left anterior fascicular block", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/left-anterior-fascicular-block" }, { "slug": "prolonged-qtc-interval", "name": "Prolonged QTc interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/prolonged-qtc-interval" }, { "slug": "atrial-fibrillation", "name": "Quivering upper heart chambers resulting in irregular heartbeat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/atrial-fibrillation" }, { "slug": "sinus-bradycardia", "name": "Sinus bradycardia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/sinus-bradycardia" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" } ], "related": [ { "slug": "abcc9", "symbol": "ABCC9", "name": "ATP binding cassette subfamily C member 9", "shared": 1, "url": "https://dantelabs.com/tr/genes/abcc9" }, { "slug": "actc1", "symbol": "ACTC1", "name": "actin alpha cardiac muscle 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/actc1" }, { "slug": "bag3", "symbol": "BAG3", "name": "BAG cochaperone 3", "shared": 1, "url": "https://dantelabs.com/tr/genes/bag3" }, { "slug": "bag5", "symbol": "BAG5", "name": "BAG cochaperone 5", "shared": 1, "url": "https://dantelabs.com/tr/genes/bag5" }, { "slug": "des", "symbol": "DES", "name": "desmin", "shared": 1, "url": "https://dantelabs.com/tr/genes/des" }, { "slug": "dmd", "symbol": "DMD", "name": "dystrophin", "shared": 1, "url": "https://dantelabs.com/tr/genes/dmd" }, { "slug": "dolk", "symbol": "DOLK", "name": "dolichol kinase", "shared": 1, "url": "https://dantelabs.com/tr/genes/dolk" }, { "slug": "emd", "symbol": "EMD", "name": "emerin", "shared": 1, "url": "https://dantelabs.com/tr/genes/emd" }, { "slug": "fhl1", "symbol": "FHL1", "name": "four and a half LIM domains 1", "shared": 1, "url": "https://dantelabs.com/tr/genes/fhl1" }, { "slug": "fktn", "symbol": "FKTN", "name": "fukutin", "shared": 1, "url": "https://dantelabs.com/tr/genes/fktn" }, { "slug": "flii", "symbol": "FLII", "name": "FLII actin remodeling protein", "shared": 1, "url": "https://dantelabs.com/tr/genes/flii" }, { "slug": "flnc", "symbol": "FLNC", "name": "filamin C", "shared": 1, "url": "https://dantelabs.com/tr/genes/flnc" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }