{ "url": "https://dantelabs.com/no/genes/sp7", "gene": { "slug": "sp7", "symbol": "SP7", "name": "Sp7 transcription factor", "hgnc": "HGNC:17321", "summary": null, "location": "12q13.13", "locusType": "gene with protein product", "aliases": [ "osterix", "OSX" ], "previousSymbols": [], "ensemblId": "ENSG00000170374", "entrezId": 121340, "omim": [ "606633" ], "uniprot": [ "Q8TDD2" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 53326575, "end": 53336354, "strand": "-", "ensemblTranscript": "ENST00000536324.4", "refseqTranscript": "NM_001173467.3", "ensemblProtein": "ENSP00000443827.2", "refseqProtein": "NP_001166938.1", "exons": [ { "start": 53326575, "end": 53329420 }, { "start": 53335626, "end": 53335693 }, { "start": 53336146, "end": 53336354 } ], "cds": { "start": 53328146, "end": 53335646 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "12", "start": 53720362, "end": 53739099, "strand": "-" }, "neighbourhood": { "release": "116", "start": 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53380135, "end": 53416446, "strand": "+", "slug": "sp1" }, { "symbol": "AMHR2", "ensemblId": "ENSG00000135409", "biotype": "protein_coding", "start": 53423672, "end": 53431672, "strand": "+", "slug": "amhr2" }, { "symbol": "PRR13", "ensemblId": "ENSG00000205352", "biotype": "protein_coding", "start": 53441308, "end": 53446660, "strand": "+", "slug": "prr13" }, { "symbol": "PCBP2", "ensemblId": "ENSG00000197111", "biotype": "protein_coding", "start": 53451900, "end": 53484618, "strand": "+", "slug": "pcbp2" }, { "symbol": "MAP3K12", "ensemblId": "ENSG00000139625", "biotype": "protein_coding", "start": 53479669, "end": 53500063, "strand": "-", "slug": "map3k12" }, { "symbol": "TARBP2", "ensemblId": "ENSG00000139546", "biotype": "protein_coding", "start": 53500921, "end": 53506431, "strand": "+", "slug": "tarbp2" }, { "symbol": "NPFF", "ensemblId": "ENSG00000139574", "biotype": "protein_coding", "start": 53506684, "end": 53507491, "strand": "-", "slug": "npff" }, { "symbol": "ATF7-NPFF", "ensemblId": "ENSG00000267281", "biotype": "protein_coding", "start": 53506691, "end": 53625979, "strand": "-", "slug": "atf7-npff" }, { "symbol": "ATF7", "ensemblId": "ENSG00000170653", "biotype": "protein_coding", "start": 53507856, "end": 53626412, "strand": "-", "slug": "atf7" }, { "symbol": "ATP5MC2", "ensemblId": "ENSG00000135390", "biotype": "protein_coding", "start": 53626515, "end": 53678658, "strand": "-", "slug": "atp5mc2" }, { "symbol": "CALCOCO1", "ensemblId": "ENSG00000012822", "biotype": "protein_coding", "start": 53708517, "end": 53727745, "strand": "-", "slug": "calcoco1" } ], "truncated": false }, "reports": [ { "slug": "osteogenesis-imperfecta", "name": "Osteogenesis imperfecta", "diseases": [ { "mondoId": "MONDO:0019019", "name": "Osteogenesis imperfecta", "genes": 34, "inheritance": null, "description": "En gruppe arvelige bindevevssykdommer som gir skjøre bein som brekker lett, ofte med blå skleraer, hørselstap og tannproblemer.", "management": "Syklisk intravenøs behandling med bisfosfonater (pamidronat, zoledronat); ortopedisk marknagling av lange knokler; fysioterapi; denosumab (i klinisk bruk ved OI hos barn); romosozumab (under utvikling); hørselskontroll; tannbehandling ved dentinogenesis imperfecta", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/no/conditions/osteogenesis-imperfecta" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-cardiovascular-system-morphology", "name": "Abnormal cardiovascular system morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-cardiovascular-system-morphology" }, { "slug": "abnormal-rib-morphology", "name": "Abnormality of the ribs", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-rib-morphology" }, { "slug": "macrocephaly", "name": "Big calvaria", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/macrocephaly" }, { "slug": "bowing-of-the-legs", "name": "Bowed legs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bowing-of-the-legs" }, { "slug": "bowing-of-the-arm", "name": "Bowing of the arm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bowing-of-the-arm" }, { "slug": "bowing-of-the-long-bones", "name": "Bowing of the long bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bowing-of-the-long-bones" }, { "slug": "coarse-facial-features", "name": "Coarse facial features", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/coarse-facial-features" }, { "slug": "conductive-hearing-impairment", "name": "Conductive deafness", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/conductive-hearing-impairment" }, { "slug": "delayed-eruption-of-teeth", "name": "Delayed eruption of teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-eruption-of-teeth" }, { "slug": "depressed-nasal-bridge", "name": "Depressed nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/depressed-nasal-bridge" }, { "slug": "craniofacial-hyperostosis", "name": "Enlargement of craniofacial bones", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/craniofacial-hyperostosis" }, { "slug": "wormian-bones", "name": "Extra bones within cranial sutures", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/wormian-bones" }, { "slug": "facial-asymmetry", "name": "Facial asymmetry", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/facial-asymmetry" }, { "slug": "hyperextensibility-of-the-finger-joints", "name": "Finger joint hyperextensibility", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperextensibility-of-the-finger-joints" }, { "slug": "frontal-bossing", "name": "Frontal bossing", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/frontal-bossing" }, { "slug": "generalized-osteoporosis", "name": "Generalized osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/generalized-osteoporosis" }, { "slug": "high-palate", "name": "High palate", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/high-palate" }, { "slug": "brachyturricephaly", "name": "High, prominent forehead", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/brachyturricephaly" }, { "slug": "hypermobility-of-interphalangeal-joints", "name": "Increased mobility of hinge joints", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypermobility-of-interphalangeal-joints" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "micrognathia", "name": "Little lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/micrognathia" }, { "slug": "midface-retrusion", "name": "Midface retrusion", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/midface-retrusion" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "stenosis-of-the-external-auditory-canal", "name": "Narrow ear canal", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/stenosis-of-the-external-auditory-canal" }, { "slug": "narrow-mouth", "name": "Narrow mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/narrow-mouth" }, { "slug": "optic-atrophy", "name": "Optic atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-atrophy" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "pectus-carinatum", "name": "Pigeon chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pectus-carinatum" }, { "slug": "prominent-supraorbital-ridges", "name": "Prominent brow", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prominent-supraorbital-ridges" }, { "slug": "prominent-forehead", "name": "Prominent forehead", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prominent-forehead" }, { "slug": "recurrent-fractures", "name": "Recurrent fractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-fractures" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/scoliosis" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "diaphyseal-undertubulation", "name": "Thickening of shaft or central part of long bones", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/diaphyseal-undertubulation" }, { "slug": "wide-nasal-bridge", "name": "Wide nasal bridge", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/wide-nasal-bridge" } ], "related": [ { "slug": "ano5", "symbol": "ANO5", "name": "anoctamin 5", "shared": 1, "url": "https://dantelabs.com/no/genes/ano5" }, { "slug": "atp6v0a2", "symbol": "ATP6V0A2", "name": "ATPase H+ transporting V0 subunit a2", "shared": 1, "url": "https://dantelabs.com/no/genes/atp6v0a2" }, { "slug": "bmp1", "symbol": "BMP1", "name": "bone morphogenetic protein 1", "shared": 1, "url": "https://dantelabs.com/no/genes/bmp1" }, { "slug": "col1a1", "symbol": "COL1A1", "name": "collagen type I alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/no/genes/col1a1" }, { "slug": "col1a2", "symbol": "COL1A2", "name": "collagen type I alpha 2 chain", "shared": 1, "url": "https://dantelabs.com/no/genes/col1a2" }, { "slug": "creb3l1", "symbol": "CREB3L1", "name": "cAMP responsive element binding protein 3 like 1", "shared": 1, "url": "https://dantelabs.com/no/genes/creb3l1" }, { "slug": "crtap", "symbol": "CRTAP", "name": "cartilage associated protein", "shared": 1, "url": "https://dantelabs.com/no/genes/crtap" }, { "slug": "fkbp10", "symbol": "FKBP10", "name": "FKBP prolyl isomerase 10", "shared": 1, "url": "https://dantelabs.com/no/genes/fkbp10" }, { "slug": "gorab", "symbol": "GORAB", "name": "golgin, RAB6 interacting", "shared": 1, "url": "https://dantelabs.com/no/genes/gorab" }, { "slug": "ifih1", "symbol": "IFIH1", "name": "interferon induced with helicase C domain 1", "shared": 1, "url": "https://dantelabs.com/no/genes/ifih1" }, { "slug": "ifitm5", "symbol": "IFITM5", "name": "interferon induced transmembrane protein 5", "shared": 1, "url": "https://dantelabs.com/no/genes/ifitm5" }, { "slug": "kdelr2", "symbol": "KDELR2", "name": "KDEL endoplasmic reticulum protein retention receptor 2", "shared": 1, "url": "https://dantelabs.com/no/genes/kdelr2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }