{ "url": "https://dantelabs.com/genes/magi2", "gene": { "slug": "magi2", "symbol": "MAGI2", "name": "membrane associated guanylate kinase, WW and PDZ domain containing 2", "hgnc": "HGNC:18957", "summary": null, "location": "7q21.11", "locusType": "gene with protein product", "aliases": [ "AIP1", "ARIP1", "KIAA0705", "ACVRIP1", "MAGI-2" ], "previousSymbols": [], "ensemblId": "ENSG00000187391", "entrezId": 9863, "omim": [ "606382" ], "uniprot": [ "Q86UL8" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "7", "start": 78017055, "end": 79453667, "strand": "-", "ensemblTranscript": "ENST00000354212.9", "refseqTranscript": "NM_012301.4", "ensemblProtein": "ENSP00000346151.4", "refseqProtein": "NP_036433.2", "exons": [ { "start": 78017055, "end": 78019976 }, { "start": 78078947, "end": 78079085 }, { "start": 78125694, "end": 78125837 }, { "start": 78127197, "end": 78127416 }, { "start": 78132889, "end": 78133060 }, { "start": 78135021, "end": 78135206 }, { "start": 78160025, "end": 78160273 }, { "start": 78167916, "end": 78168108 }, { "start": 78178011, "end": 78178102 }, { "start": 78185629, "end": 78185670 }, { "start": 78194874, "end": 78195063 }, { "start": 78201162, "end": 78201193 }, { "start": 78255943, "end": 78256581 }, { "start": 78343778, "end": 78343960 }, { "start": 78345922, "end": 78346043 }, { "start": 78369156, "end": 78369213 }, { "start": 78489761, "end": 78489840 }, { "start": 78501577, "end": 78501787 }, { "start": 78521430, "end": 78521645 }, { "start": 78627120, "end": 78627239 }, { "start": 79007090, "end": 79007206 }, { "start": 79453020, "end": 79453667 } ], "cds": { "start": 78019315, "end": 79453320 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "7", "start": 77646393, "end": 79082890, "strand": "-" }, "neighbourhood": { "release": "116", "start": 76580442, "end": 80890280, "genes": [ { "symbol": "POMZP3", "ensemblId": "ENSG00000146707", "biotype": "protein_coding", "start": 76601809, "end": 76627288, "strand": "-", "slug": "pomzp3" }, { "symbol": "SPDYE17", "ensemblId": "ENSG00000186645", "biotype": "protein_coding", "start": 77022306, "end": 77032361, "strand": "-", "slug": "spdye17" }, { "symbol": "SPDYE18", "ensemblId": "ENSG00000205482", "biotype": "protein_coding", "start": 77050391, "end": 77063938, "strand": "-", "slug": "spdye18" }, { "symbol": "CCDC146", "ensemblId": "ENSG00000135205", "biotype": "protein_coding", "start": 77122434, "end": 77329533, "strand": "+", "slug": "ccdc146" }, { "symbol": "FGL2", "ensemblId": "ENSG00000127951", "biotype": "protein_coding", "start": 77193182, "end": 77199884, "strand": "-", "slug": "fgl2" }, { "symbol": "GSAP", "ensemblId": "ENSG00000186088", "biotype": "protein_coding", "start": 77310483, "end": 77416607, "strand": "-", "slug": "gsap" }, { "symbol": "PTPN12", "ensemblId": "ENSG00000127947", "biotype": "protein_coding", "start": 77537065, "end": 77640072, "strand": "+", "slug": "ptpn12" }, { "symbol": "RSBN1L", "ensemblId": "ENSG00000187257", "biotype": "protein_coding", "start": 77696440, "end": 77783022, "strand": "+", "slug": "rsbn1l" }, { "symbol": "TMEM60", "ensemblId": "ENSG00000135211", "biotype": "protein_coding", "start": 77793728, "end": 77799723, "strand": "-", "slug": "tmem60" }, { "symbol": "PHTF2", "ensemblId": "ENSG00000006576", "biotype": "protein_coding", "start": 77798652, "end": 77957503, "strand": "+", "slug": "phtf2" }, { "symbol": "GNAI1", "ensemblId": "ENSG00000127955", "biotype": "protein_coding", "start": 79768028, "end": 80226181, "strand": "+", "slug": "gnai1" }, { "symbol": "CD36", "ensemblId": "ENSG00000135218", "biotype": "protein_coding", "start": 80369532, "end": 80679277, "strand": "+", "slug": "cd36" }, { "symbol": "GNAT3", "ensemblId": "ENSG00000214415", "biotype": "protein_coding", "start": 80458635, "end": 80512064, "strand": "-", "slug": "gnat3" }, { "symbol": "SEMA3C", "ensemblId": "ENSG00000075223", "biotype": "protein_coding", "start": 80742538, "end": 80922393, "strand": "-", "slug": "sema3c" } ], "truncated": false }, "reports": [ { "slug": "nephrotic-syndrome", "name": "Nephrotic Syndrome", "diseases": [ { "mondoId": "MONDO:0002331", "name": "Nephrosis", "genes": 29, "inheritance": null, "description": "Pathological processes of the KIDNEY without inflammatory or neoplastic components. Nephrosis may be a primary disorder or secondary complication of other diseases. It is characterized by the NEPHROTIC SYNDROME indicating the presence of PROTEINURIA and HYPOALBUMINEMIA with accompanying EDEMA.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/conditions/nephrotic-syndrome" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-pain", "name": "Abdominal pain", "systems": [ "abnormality-of-the-digestive-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abdominal-pain" }, { "slug": "abnormality-of-the-nervous-system", "name": "Abnormality of the nervous system", "systems": [], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system" }, { "slug": "chronic-kidney-disease", "name": "Chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-kidney-disease" }, { "slug": "diffuse-mesangial-sclerosis", "name": "Diffuse mesangial sclerosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diffuse-mesangial-sclerosis" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fever" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "foamy-urine", "name": "Foamy urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/foamy-urine" }, { "slug": "focal-segmental-glomerulosclerosis", "name": "Focal segmental glomerulosclerosis", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/focal-segmental-glomerulosclerosis" }, { "slug": "headache", "name": "Headache", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/headache" }, { "slug": "proteinuria", "name": "High urine protein levels", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/proteinuria" }, { "slug": "irritability", "name": "Irritability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/irritability" }, { "slug": "hypoalbuminemia", "name": "Low albumin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoalbuminemia" }, { "slug": "minimal-change-glomerulonephritis", "name": "Minimal change glomerulonephritis", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/minimal-change-glomerulonephritis" }, { "slug": "periorbital-edema", "name": "Periorbital edema", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/periorbital-edema" }, { "slug": "peritonitis", "name": "Peritonitis", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/peritonitis" }, { "slug": "respiratory-tract-infection", "name": "Respiratory tract infection", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-tract-infection" }, { "slug": "stage-5-chronic-kidney-disease", "name": "Stage 5 chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/stage-5-chronic-kidney-disease" }, { "slug": "steroid-resistant-nephrotic-syndrome", "name": "Steroid-resistant nephrotic syndrome", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/steroid-resistant-nephrotic-syndrome" } ], "related": [ { "slug": "actn4", "symbol": "ACTN4", "name": "actinin alpha 4", "shared": 1, "url": "https://dantelabs.com/genes/actn4" }, { "slug": "arhgdia", "symbol": "ARHGDIA", "name": "Rho GDP dissociation inhibitor alpha", "shared": 1, "url": "https://dantelabs.com/genes/arhgdia" }, { "slug": "coq6", "symbol": "COQ6", "name": "coenzyme Q6, monooxygenase", "shared": 1, "url": "https://dantelabs.com/genes/coq6" }, { "slug": "coq8b", "symbol": "COQ8B", "name": "coenzyme Q8B", "shared": 1, "url": "https://dantelabs.com/genes/coq8b" }, { "slug": "daam2", "symbol": "DAAM2", "name": "dishevelled associated activator of morphogenesis 2", "shared": 1, "url": "https://dantelabs.com/genes/daam2" }, { "slug": "dgke", "symbol": "DGKE", "name": "diacylglycerol kinase epsilon", "shared": 1, "url": "https://dantelabs.com/genes/dgke" }, { "slug": "dlc1", "symbol": "DLC1", "name": "DLC1 Rho GTPase activating protein", "shared": 1, "url": "https://dantelabs.com/genes/dlc1" }, { "slug": "emp2", "symbol": "EMP2", "name": "epithelial membrane protein 2", "shared": 1, "url": "https://dantelabs.com/genes/emp2" }, { "slug": "itsn1", "symbol": "ITSN1", "name": "intersectin 1", "shared": 1, "url": "https://dantelabs.com/genes/itsn1" }, { "slug": "itsn2", "symbol": "ITSN2", "name": "intersectin 2", "shared": 1, "url": "https://dantelabs.com/genes/itsn2" }, { "slug": "kank2", "symbol": "KANK2", "name": "KN motif and ankyrin repeat domains 2", "shared": 1, "url": "https://dantelabs.com/genes/kank2" }, { "slug": "lama5", "symbol": "LAMA5", "name": "laminin subunit alpha 5", "shared": 1, "url": "https://dantelabs.com/genes/lama5" } ], "sources": { "bundleId": "2026.10.19-9814e911", "panel": "2026-10-19", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }