{ "url": "https://dantelabs.com/pt/genes/secisbp2", "gene": { "slug": "secisbp2", "symbol": "SECISBP2", "name": "SECIS binding protein 2", "hgnc": "HGNC:30972", "summary": null, "location": "9q22.2", "locusType": "gene with protein product", "aliases": [ "SBP2" ], "previousSymbols": [], "ensemblId": "ENSG00000187742", "entrezId": 79048, "omim": [ "607693" ], "uniprot": [ "Q96T21" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "9", "start": 89318500, "end": 89359663, "strand": "+", "ensemblTranscript": "ENST00000375807.8", "refseqTranscript": "NM_024077.5", "ensemblProtein": "ENSP00000364965.3", "refseqProtein": "NP_076982.3", "exons": [ { "start": 89318500, "end": 89318612 }, { "start": 89319652, "end": 89319797 }, { "start": 89325427, "end": 89325676 }, { "start": 89325897, "end": 89326038 }, { "start": 89328660, "end": 89328886 }, { "start": 89332908, "end": 89332986 }, { "start": 89334522, "end": 89334730 }, { "start": 89338458, "end": 89338580 }, { "start": 89339864, 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89316715, "strand": "+", "slug": "cks2" }, { "symbol": "SEMA4D", "ensemblId": "ENSG00000187764", "biotype": "protein_coding", "start": 89360781, "end": 89498201, "strand": "-", "slug": "sema4d" }, { "symbol": "GADD45G", "ensemblId": "ENSG00000130222", "biotype": "protein_coding", "start": 89604939, "end": 89609775, "strand": "+", "slug": "gadd45g" } ], "truncated": false }, "reports": [ { "slug": "congenital-hypothyroidism", "name": "Hipotiroidismo congénito", "diseases": [ { "mondoId": "MONDO:0018612", "name": "Hipotiroidismo congénito", "genes": 18, "inheritance": null, "description": "Uma deficiência de hormonas da tiroide presente desde o nascimento.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/congenital-hypothyroidism" }, { "slug": "thyroid-cancer-report", "name": "Cancro da Tiroide", "diseases": [ { "mondoId": "MONDO:0005420", "name": "Hipotiroidismo", "genes": 18, "inheritance": null, "description": "Níveis anormalmente baixos de hormonas tiroideias.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0003240", "name": "Doença da Glândula Tiroideia", "genes": 21, "inheritance": null, "description": "Uma doença que afeta a glândula tiroideia.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/thyroid-cancer-report" }, { "slug": "thyroid-hormone-resistance-transport-metabolism-defects", "name": "Resistência às Hormonas da Tiroide, Defeitos de Transporte e Metabolismo", "diseases": [ { "mondoId": "MONDO:0800046", "name": "Metabolismo anómalo da hormona da tiroide relacionado com SECISBP2", "genes": 1, "inheritance": "autosomal-recessive", "description": "Defeito na produção de selenoproteínas que perturba o processamento da hormona da tiroide, com T4 elevada, T3 baixa e outras características.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/thyroid-hormone-resistance-transport-metabolism-defects" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-circulating-enzyme-concentration-or-activity", "name": "Abnormal circulating enzyme concentration or activity", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-enzyme-concentration-or-activity" }, { "slug": "abnormal-circulating-insulin-concentration", "name": "Abnormal circulating insulin concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-circulating-insulin-concentration" }, { "slug": "abnormal-circulating-selenium-concentration", "name": "Abnormal circulating selenium concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-circulating-selenium-concentration" }, { "slug": "decreased-circulating-free-t3", "name": "Decreased circulating free T3", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-free-t3" }, { "slug": "delayed-skeletal-maturation", "name": "Delayed bone maturation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/delayed-skeletal-maturation" }, { "slug": "distal-lower-limb-muscle-weakness", "name": "Distal lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/distal-lower-limb-muscle-weakness" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "elevated-circulating-thyroid-stimulating-hormone-concentration", "name": "Elevated circulating thyroid-stimulating hormone concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-thyroid-stimulating-hormone-concentration" }, { "slug": "fatty-replacement-of-skeletal-muscle", "name": "Fatty replacement of skeletal muscle", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fatty-replacement-of-skeletal-muscle" }, { "slug": "gowers-sign", "name": "Gowers sign", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gowers-sign" }, { "slug": "growth-delay", "name": "Growth delay", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/growth-delay" }, { "slug": "increased-circulating-free-t4-concentration", "name": "Increased circulating free T4 concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-free-t4-concentration" }, { "slug": "increased-circulating-t4-concentration", "name": "Increased circulating T4 concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-t4-concentration" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "fasting-hypoglycemia", "name": "Low blood sugar when fasting", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fasting-hypoglycemia" }, { "slug": "obesity", "name": "Obesity", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/obesity" }, { "slug": "proximal-lower-limb-muscle-weakness", "name": "Proximal lower limb muscle weakness", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/proximal-lower-limb-muscle-weakness" }, { "slug": "short-attention-span", "name": "Short attention span", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-attention-span" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" } ], "related": [ { "slug": "duox2", "symbol": "DUOX2", "name": "dual oxidase 2", "shared": 3, "url": "https://dantelabs.com/pt/genes/duox2" }, { "slug": "duoxa2", "symbol": "DUOXA2", "name": "dual oxidase maturation factor 2", "shared": 3, "url": "https://dantelabs.com/pt/genes/duoxa2" }, { "slug": "igsf1", "symbol": "IGSF1", "name": "immunoglobulin superfamily member 1", "shared": 3, "url": "https://dantelabs.com/pt/genes/igsf1" }, { "slug": "irs4", "symbol": "IRS4", "name": "insulin receptor substrate 4", "shared": 3, "url": "https://dantelabs.com/pt/genes/irs4" }, { "slug": "iyd", "symbol": "IYD", "name": "iodotyrosine deiodinase", "shared": 3, "url": "https://dantelabs.com/pt/genes/iyd" }, { "slug": "nkx2-5", "symbol": "NKX2-5", "name": "NK2 homeobox 5", "shared": 3, "url": "https://dantelabs.com/pt/genes/nkx2-5" }, { "slug": "pax8", "symbol": "PAX8", "name": "paired box 8", "shared": 3, "url": "https://dantelabs.com/pt/genes/pax8" }, { "slug": "slc26a4", "symbol": "SLC26A4", "name": "solute carrier family 26 member 4", "shared": 3, "url": "https://dantelabs.com/pt/genes/slc26a4" }, { "slug": "slc26a7", "symbol": "SLC26A7", "name": "solute carrier family 26 member 7", "shared": 3, "url": "https://dantelabs.com/pt/genes/slc26a7" }, { "slug": "slc5a5", "symbol": "SLC5A5", "name": "solute carrier family 5 member 5", "shared": 3, "url": "https://dantelabs.com/pt/genes/slc5a5" }, { "slug": "tbl1x", "symbol": "TBL1X", "name": "transducin beta like 1 X-linked", "shared": 3, "url": "https://dantelabs.com/pt/genes/tbl1x" }, { "slug": "tg", "symbol": "TG", "name": "thyroglobulin", "shared": 3, "url": "https://dantelabs.com/pt/genes/tg" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }