{ "url": "https://dantelabs.com/sv/genes/ltbp2", "gene": { "slug": "ltbp2", "symbol": "LTBP2", "name": "latent transforming growth factor beta binding protein 2", "hgnc": "HGNC:6715", "summary": null, "location": "14q24.3", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "LTBP3", "C14orf141" ], "ensemblId": "ENSG00000119681", "entrezId": 4053, "omim": [ "602091" ], "uniprot": [ "Q14767" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "14", "start": 74498183, "end": 74612237, "strand": "-", "ensemblTranscript": "ENST00000261978.9", "refseqTranscript": "NM_000428.3", "ensemblProtein": "ENSP00000261978.4", "refseqProtein": "NP_000419.1", "exons": [ { "start": 74498183, "end": 74501029 }, { "start": 74501441, "end": 74501590 }, { "start": 74502653, "end": 74502934 }, { "start": 74503219, "end": 74503386 }, { "start": 74503469, "end": 74503606 }, { "start": 74503926, "end": 74504054 }, { "start": 74504778, "end": 74504861 }, { "start": 74504983, "end": 74505174 }, { "start": 74506048, "end": 74506191 }, { "start": 74506698, "end": 74506823 }, { "start": 74507179, "end": 74507310 }, { "start": 74507973, "end": 74508095 }, { "start": 74508604, "end": 74508729 }, { "start": 74508830, "end": 74508952 }, { "start": 74509238, "end": 74509363 }, { "start": 74509734, "end": 74509859 }, { "start": 74510091, "end": 74510213 }, { "start": 74511245, "end": 74511364 }, { "start": 74516822, "end": 74516941 }, { "start": 74521911, "end": 74522039 }, { "start": 74522790, "end": 74522918 }, { "start": 74525124, "end": 74525225 }, { "start": 74526075, "end": 74526114 }, { "start": 74527347, "end": 74527366 }, { "start": 74528483, "end": 74528698 }, { "start": 74528958, "end": 74529122 }, { "start": 74532426, "end": 74532548 }, { "start": 74535926, "end": 74536000 }, { "start": 74549863, "end": 74549965 }, { "start": 74551064, "end": 74551350 }, { "start": 74552187, "end": 74552393 }, { "start": 74552892, "end": 74553062 }, { "start": 74555503, "end": 74555693 }, { "start": 74585854, "end": 74586118 }, { "start": 74603635, "end": 74603705 }, { "start": 74611451, "end": 74612237 } ], "cds": { "start": 74500884, "end": 74611944 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "14", "start": 74964873, "end": 75079306, "strand": "-" }, "neighbourhood": { "release": "116", "start": 74055210, "end": 75055209, "genes": [ { "symbol": "BBOF1", "ensemblId": "ENSG00000119636", "biotype": "protein_coding", "start": 74019341, "end": 74082863, "strand": "+", "slug": "bbof1" }, { "symbol": "ALDH6A1", "ensemblId": "ENSG00000119711", "biotype": "protein_coding", "start": 74055997, "end": 74084492, "strand": "-", "slug": "aldh6a1" }, { "symbol": "LIN52", "ensemblId": "ENSG00000205659", "biotype": "protein_coding", "start": 74084943, "end": 74201493, "strand": "+", "slug": "lin52" }, { "symbol": "VSX2", "ensemblId": "ENSG00000119614", "biotype": "protein_coding", "start": 74239449, "end": 74262738, "strand": "+", "slug": "vsx2" }, { "symbol": "ABCD4", "ensemblId": "ENSG00000119688", "biotype": "protein_coding", "start": 74285269, "end": 74303068, "strand": "-", "slug": "abcd4" }, { "symbol": "VRTN", "ensemblId": "ENSG00000133980", "biotype": "protein_coding", "start": 74303069, "end": 74360011, "strand": "+", "slug": "vrtn" }, { "symbol": "SYNDIG1L", "ensemblId": "ENSG00000183379", "biotype": "protein_coding", "start": 74405894, "end": 74426325, "strand": "-", "slug": "syndig1l" }, { "symbol": "NPC2", "ensemblId": "ENSG00000119655", "biotype": "protein_coding", "start": 74427119, "end": 74494177, "strand": "-", "slug": "npc2" }, { "symbol": "ISCA2", "ensemblId": "ENSG00000165898", "biotype": "protein_coding", "start": 74493721, "end": 74499758, "strand": "+", "slug": "isca2" }, { "symbol": "AREL1", "ensemblId": "ENSG00000119682", "biotype": "protein_coding", "start": 74653437, "end": 74713117, "strand": "-", "slug": "arel1" }, { "symbol": "FCF1", "ensemblId": "ENSG00000119616", "biotype": "protein_coding", "start": 74713144, "end": 74750706, "strand": "+", "slug": "fcf1" }, { "symbol": "YLPM1", "ensemblId": "ENSG00000119596", "biotype": "protein_coding", "start": 74763289, "end": 74859435, "strand": "+", "slug": "ylpm1" }, { "symbol": "PROX2", "ensemblId": "ENSG00000119608", "biotype": "protein_coding", "start": 74852871, "end": 74876154, "strand": "-", "slug": "prox2" }, { "symbol": "DLST", "ensemblId": "ENSG00000119689", "biotype": "protein_coding", "start": 74881891, "end": 74903966, "strand": "+", "slug": "dlst" }, { "symbol": "RPS6KL1", "ensemblId": "ENSG00000198208", "biotype": "protein_coding", "start": 74903951, "end": 74923308, "strand": "-", "slug": "rps6kl1" }, { "symbol": "PGF", "ensemblId": "ENSG00000119630", "biotype": "protein_coding", "start": 74940965, "end": 74955626, "strand": "-", "slug": "pgf" }, { "symbol": "EIF2B2", "ensemblId": "ENSG00000119718", "biotype": "protein_coding", "start": 75002889, "end": 75013117, "strand": "+", "slug": "eif2b2" }, { "symbol": "MLH3", "ensemblId": "ENSG00000119684", "biotype": "protein_coding", "start": 75013224, "end": 75051532, "strand": "-", "slug": "mlh3" }, { "symbol": "ACYP1", "ensemblId": "ENSG00000119640", "biotype": "protein_coding", "start": 75052937, "end": 75069486, "strand": "-", "slug": "acyp1" } ], "truncated": false }, "reports": [ { "slug": "glaucoma", "name": "Glaukom", "diseases": [ { "mondoId": "MONDO:0005041", "name": "Glaukom", "genes": 8, "inheritance": null, "description": "Ökat tryck i ögonglob på grund av att avflödet av kammarvatten är blockerat.", "management": "IOP-sänkande droppar (prostaglandinanaloger, betablockerare); selektiv laser-trabekuloplastik; MIGS-kirurgi; trabekulotomi/goniotomi vid medfött glaukom; kaskadtestning av familjemedlemmar; årlig IOP-kontroll för bärare", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/glaucoma" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cardiovascular-system-morphology", "name": "Abnormal cardiovascular system morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology" }, { "slug": "abnormal-descemet-membrane-morphology", "name": "Abnormal Descemet membrane morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-descemet-membrane-morphology" }, { "slug": "anisometropia", "name": "Anisometropia", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anisometropia" }, { "slug": "myopia", "name": "Close sighted", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myopia" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "corneal-opacity", "name": "Corneal opacity", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/corneal-opacity" }, { "slug": "corneal-stromal-edema", "name": "Corneal stromal edema", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/corneal-stromal-edema" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "deep-anterior-chamber", "name": "Deep anterior chamber", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/deep-anterior-chamber" }, { "slug": "delayed-skeletal-maturation", "name": "Delayed bone maturation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-skeletal-maturation" }, { "slug": "ectopia-lentis", "name": "Ectopia lentis", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ectopia-lentis" }, { "slug": "megalocornea", "name": "Enlarged cornea", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/megalocornea" }, { "slug": "buphthalmos", "name": "Enlarged eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/buphthalmos" }, { "slug": "photophobia", "name": "Extreme sensitivity of the eyes to light", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "blepharospasm", "name": "Eyelid spasm", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/blepharospasm" }, { "slug": "hypermetropia", "name": "Farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypermetropia" }, { "slug": "pectus-excavatum", "name": "Funnel chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pectus-excavatum" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "ocular-hypertension", "name": "High eye pressure", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ocular-hypertension" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "ventricular-septal-defect", "name": "Hole in heart wall separating two lower heart chambers", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ventricular-septal-defect" }, { "slug": "epiphora", "name": "Increased tears", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epiphora" }, { "slug": "mild-intellectual-disability", "name": "Intellectual disability, mild", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mild-intellectual-disability" }, { "slug": "iridodonesis", "name": "Iridodonesis", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/iridodonesis" }, { "slug": "iris-atrophy", "name": "Iris degeneration", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/iris-atrophy" }, { "slug": "joint-stiffness", "name": "Joint stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-stiffness" }, { "slug": "amblyopia", "name": "Lazy eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/amblyopia" }, { "slug": "limitation-of-joint-mobility", "name": "Limitation of joint mobility", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limitation-of-joint-mobility" }, { "slug": "microspherophakia", "name": "Microspherophakia", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/microspherophakia" }, { "slug": "mitral-regurgitation", "name": "Mitral regurgitation", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mitral-regurgitation" }, { "slug": "aortic-valve-stenosis", "name": "Narrowing of aortic valve", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aortic-valve-stenosis" }, { "slug": "pulmonic-stenosis", "name": "Narrowing of pulmonic valve", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonic-stenosis" }, { "slug": "patent-ductus-arteriosus", "name": "Patent ductus arteriosus", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/patent-ductus-arteriosus" }, { "slug": "primary-congenital-glaucoma", "name": "Primary congenital glaucoma", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/primary-congenital-glaucoma" }, { "slug": "prolonged-qtc-interval", "name": "Prolonged QTc interval", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-qtc-interval" }, { "slug": "reduced-anterior-scleral-thickness", "name": "Reduced anterior scleral thickness", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-anterior-scleral-thickness" }, { "slug": "high-myopia", "name": "Severe near sightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/high-myopia" }, { "slug": "shallow-anterior-chamber", "name": "Shallow anterior chamber", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/shallow-anterior-chamber" }, { "slug": "brachydactyly", "name": "Short fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/brachydactyly" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "short-thumb", "name": "Short thumb", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/short-thumb" }, { "slug": "thickened-skin", "name": "Thickened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thickened-skin" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-loss" } ], "related": [ { "slug": "cyp1b1", "symbol": "CYP1B1", "name": "cytochrome P450 family 1 subfamily B member 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/cyp1b1" }, { "slug": "efemp1", "symbol": "EFEMP1", "name": "EGF-like fibulin extracellular matrix protein 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/efemp1" }, { "slug": "foxc1", "symbol": "FOXC1", "name": "forkhead box C1", "shared": 1, "url": "https://dantelabs.com/sv/genes/foxc1" }, { "slug": "myoc", "symbol": "MYOC", "name": "myocilin", "shared": 1, "url": "https://dantelabs.com/sv/genes/myoc" }, { "slug": "optn", "symbol": "OPTN", "name": "optineurin", "shared": 1, "url": "https://dantelabs.com/sv/genes/optn" }, { "slug": "tek", "symbol": "TEK", "name": "TEK receptor tyrosine kinase", "shared": 1, "url": "https://dantelabs.com/sv/genes/tek" }, { "slug": "thbs1", "symbol": "THBS1", "name": "thrombospondin 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/thbs1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }