{ "url": "https://dantelabs.com/lt/genes/myzap", "gene": { "slug": "myzap", "symbol": "MYZAP", "name": "myocardial zonula adherens protein", "hgnc": "HGNC:43444", "summary": null, "location": "15q21.3", "locusType": "gene with protein product", "aliases": [ "MYOZAP", "Gup", "Gup1", "GCOM1" ], "previousSymbols": [], "ensemblId": "ENSG00000263155", "entrezId": 100820829, "omim": [ "614071" ], "uniprot": [ "P0CAP1" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 57591904, "end": 57685364, "strand": "+", "ensemblTranscript": "ENST00000267853.10", "refseqTranscript": "NM_001018100.5", "ensemblProtein": "ENSP00000267853.5", "refseqProtein": "NP_001018110.1", "exons": [ { "start": 57591904, "end": 57592109 }, { "start": 57604269, "end": 57604355 }, { "start": 57618033, "end": 57618188 }, { "start": 57621608, "end": 57621700 }, { "start": 57625779, "end": 57625892 }, { "start": 57629702, "end": 57629854 }, { "start": 57632434, "end": 57632559 }, { "start": 57633613, "end": 57633741 }, { "start": 57637695, "end": 57637774 }, { "start": 57639440, "end": 57639545 }, { "start": 57661450, "end": 57661533 }, { "start": 57674968, "end": 57675068 }, { "start": 57684402, "end": 57685364 } ], "cds": { "start": 57592035, "end": 57684498 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "15", "start": 57884139, "end": 57977562, "strand": "+" }, "neighbourhood": { "release": "116", "start": 57138634, "end": 58138633, "genes": [ { "symbol": "TCF12", "ensemblId": "ENSG00000140262", "biotype": "protein_coding", "start": 56918099, "end": 57299707, "strand": "+", "slug": "tcf12" }, { "symbol": "CGNL1", "ensemblId": "ENSG00000128849", "biotype": "protein_coding", "start": 57375967, "end": 57551742, "strand": "+", "slug": "cgnl1" }, { "symbol": "GCOM1", "ensemblId": "ENSG00000137878", "biotype": "protein_coding", "start": 57591908, "end": 57714745, "strand": "+", "slug": "gcom1" }, { "symbol": "POLR2M", "ensemblId": "ENSG00000255529", "biotype": "protein_coding", "start": 57706641, "end": 57782762, "strand": "+", "slug": "polr2m" }, { "symbol": "ALDH1A2", "ensemblId": "ENSG00000128918", "biotype": "protein_coding", "start": 57953424, "end": 58497866, "strand": "-", "slug": "aldh1a2" }, { "symbol": "AQP9", "ensemblId": "ENSG00000103569", "biotype": "protein_coding", "start": 58138169, "end": 58185915, "strand": "+", "slug": "aqp9" } ], "truncated": false }, "reports": [ { "slug": "dilated-cardiomyopathy", "name": "Dilatuota kardiomiopatija", "diseases": [ { "mondoId": "MONDO:0005021", "name": "Dilatuota kardiomiopatija", "genes": 50, "inheritance": null, "description": "Kairiojo skilvelio išsiplėtimas ir susilpnėjimas, kurio nepaaiškina vainikinių arterijų ar vožtuvų liga; paveldimos formos susijusios su TTN, LMNA, RBM20, FLNC, BAG3, DSP, MYH7, TNNT2, DES, PLN ir daugeliu kitų genų, į jas įeina Barth sindromas ir Emery-Dreifuss raumenų distrofijos.", "management": "Žinojimas apie genetinę priežastį padeda anksčiau pradėti širdies stebėseną ir šeimos narių tikrinimą, o turint genus su dideliu aritmijos rizika, pavyzdžiui, LMNA, FLNC ir RBM20, tai padeda priimti sprendimus dėl ritmo stebėsenos ir implantuojamų defibriliatorių.", "evidence": { "gencc": [ "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/dilated-cardiomyopathy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "dyspnea", "name": "Breathing difficulty", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dyspnea" }, { "slug": "congestive-heart-failure", "name": "Cardiac failure", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/congestive-heart-failure" }, { "slug": "elevated-circulating-nt-probnp-concentration", "name": "Elevated circulating NT-proBNP concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-nt-probnp-concentration" }, { "slug": "premature-ventricular-contraction", "name": "Extra heart beat", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/premature-ventricular-contraction" }, { "slug": "mildly-reduced-left-ventricular-ejection-fraction", "name": "Mildly reduced left ventricular ejection fraction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/mildly-reduced-left-ventricular-ejection-fraction" }, { "slug": "moderately-reduced-left-ventricular-ejection-fraction", "name": "Moderately reduced left ventricular ejection fraction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/moderately-reduced-left-ventricular-ejection-fraction" }, { "slug": "myocardial-fibrosis", "name": "Myocardial fibrosis", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/myocardial-fibrosis" }, { "slug": "palpitations", "name": "Palpitations", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/palpitations" }, { "slug": "severely-reduced-left-ventricular-ejection-fraction", "name": "Severely reduced left ventricular ejection fraction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/severely-reduced-left-ventricular-ejection-fraction" }, { "slug": "dilated-cardiomyopathy", "name": "Stretched and thinned heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/dilated-cardiomyopathy" }, { "slug": "ventricular-tachycardia", "name": "Ventricular tachycardia", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ventricular-tachycardia" } ], "related": [ { "slug": "abcc9", "symbol": "ABCC9", "name": "ATP binding cassette subfamily C member 9", "shared": 1, "url": "https://dantelabs.com/lt/genes/abcc9" }, { "slug": "actc1", "symbol": "ACTC1", "name": "actin alpha cardiac muscle 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/actc1" }, { "slug": "bag3", "symbol": "BAG3", "name": "BAG cochaperone 3", "shared": 1, "url": "https://dantelabs.com/lt/genes/bag3" }, { "slug": "bag5", "symbol": "BAG5", "name": "BAG cochaperone 5", "shared": 1, "url": "https://dantelabs.com/lt/genes/bag5" }, { "slug": "des", "symbol": "DES", "name": "desmin", "shared": 1, "url": "https://dantelabs.com/lt/genes/des" }, { "slug": "dmd", "symbol": "DMD", "name": "dystrophin", "shared": 1, "url": "https://dantelabs.com/lt/genes/dmd" }, { "slug": "dolk", "symbol": "DOLK", "name": "dolichol kinase", "shared": 1, "url": "https://dantelabs.com/lt/genes/dolk" }, { "slug": "emd", "symbol": "EMD", "name": "emerin", "shared": 1, "url": "https://dantelabs.com/lt/genes/emd" }, { "slug": "fhl1", "symbol": "FHL1", "name": "four and a half LIM domains 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/fhl1" }, { "slug": "fktn", "symbol": "FKTN", "name": "fukutin", "shared": 1, "url": "https://dantelabs.com/lt/genes/fktn" }, { "slug": "flii", "symbol": "FLII", "name": "FLII actin remodeling protein", "shared": 1, "url": "https://dantelabs.com/lt/genes/flii" }, { "slug": "flnc", "symbol": "FLNC", "name": "filamin C", "shared": 1, "url": "https://dantelabs.com/lt/genes/flnc" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }