{ "url": "https://dantelabs.com/de/genes/ifitm5", "gene": { "slug": "ifitm5", "symbol": "IFITM5", "name": "interferon induced transmembrane protein 5", "hgnc": "HGNC:16644", "summary": null, "location": "11p15.5", "locusType": "gene with protein product", "aliases": [ "fragilis4", "Hrmp1", "BRIL", "DSPA1" ], "previousSymbols": [], "ensemblId": "ENSG00000206013", "entrezId": 387733, "omim": [ "614757" ], "uniprot": [ "A6NNB3" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "11", "start": 298200, "end": 299526, "strand": "-", "ensemblTranscript": "ENST00000382614.2", "refseqTranscript": "NM_001025295.3", "ensemblProtein": "ENSP00000372059.2", "refseqProtein": "NP_001020466.1", "exons": [ { "start": 298200, "end": 298713 }, { "start": 299305, "end": 299526 } ], "cds": { "start": 298501, "end": 299490 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "11", "start": 298200, "end": 299526, "strand": "-" }, "neighbourhood": { "release": "116", "start": 1, "end": 798862, "genes": [ { "symbol": "BET1L", "ensemblId": "ENSG00000177951", "biotype": "protein_coding", "start": 167784, "end": 208695, "strand": "-", "slug": "bet1l" }, { "symbol": "SCGB1C1", "ensemblId": "ENSG00000188076", "biotype": "protein_coding", "start": 193078, "end": 194575, "strand": "+", "slug": "scgb1c1" }, { "symbol": "CIMAP1A", "ensemblId": "ENSG00000177947", "biotype": "protein_coding", "start": 196761, "end": 200261, "strand": "+", "slug": "cimap1a" }, { "symbol": "RIC8A", "ensemblId": "ENSG00000177963", "biotype": "protein_coding", "start": 207478, "end": 215164, "strand": "+", "slug": "ric8a" }, { "symbol": "SIRT3", "ensemblId": "ENSG00000142082", "biotype": "protein_coding", "start": 215026, "end": 236931, "strand": "-", "slug": "sirt3" }, { "symbol": "PSMD13", "ensemblId": "ENSG00000185627", "biotype": "protein_coding", "start": 236948, "end": 252986, "strand": "+", "slug": "psmd13" }, { "symbol": "NLRP6", "ensemblId": "ENSG00000174885", "biotype": "protein_coding", "start": 278407, "end": 286691, "strand": "+", "slug": "nlrp6" }, { "symbol": "PGGHG", "ensemblId": "ENSG00000142102", "biotype": "protein_coding", "start": 289078, "end": 297510, "strand": "+", "slug": "pgghg" }, { "symbol": "IFITM2", "ensemblId": "ENSG00000185201", "biotype": "protein_coding", "start": 303655, "end": 309410, "strand": "+", "slug": "ifitm2" }, { "symbol": "", "ensemblId": "ENSG00000288681", "biotype": "protein_coding", "start": 308408, "end": 315272, "strand": "+" }, { "symbol": "IFITM3", "ensemblId": "ENSG00000142089", "biotype": "protein_coding", "start": 309010, "end": 329475, "strand": "-", "slug": "ifitm3" }, { "symbol": "IFITM1", "ensemblId": "ENSG00000185885", "biotype": "protein_coding", "start": 309997, "end": 315275, "strand": "+", "slug": "ifitm1" }, { "symbol": "B4GALNT4", "ensemblId": "ENSG00000182272", "biotype": "protein_coding", "start": 369457, "end": 382117, "strand": "+", "slug": "b4galnt4" }, { "symbol": "PKP3", "ensemblId": "ENSG00000184363", "biotype": "protein_coding", "start": 392574, "end": 404908, "strand": "+", "slug": "pkp3" }, { "symbol": "SIGIRR", "ensemblId": "ENSG00000185187", "biotype": "protein_coding", "start": 405711, "end": 417473, "strand": "-", "slug": "sigirr" }, { "symbol": "ANO9", "ensemblId": "ENSG00000185101", "biotype": "protein_coding", "start": 417921, "end": 442072, "strand": "-", "slug": "ano9" }, { "symbol": "PTDSS2", "ensemblId": "ENSG00000174915", "biotype": "protein_coding", "start": 448268, "end": 501142, "strand": "+", "slug": "ptdss2" }, { "symbol": "RNH1", "ensemblId": "ENSG00000023191", "biotype": "protein_coding", "start": 494510, "end": 507395, "strand": "-", "slug": "rnh1" }, { "symbol": "HRAS", "ensemblId": "ENSG00000174775", "biotype": "protein_coding", "start": 532242, "end": 537343, "strand": "-", "slug": "hras" }, { "symbol": "LRRC56", "ensemblId": "ENSG00000161328", "biotype": "protein_coding", "start": 536841, "end": 554925, "strand": "+", "slug": "lrrc56" }, { "symbol": "LMNTD2", "ensemblId": "ENSG00000185522", "biotype": "protein_coding", "start": 554850, "end": 560743, "strand": "-", "slug": "lmntd2" }, { "symbol": "RASSF7", "ensemblId": "ENSG00000099849", "biotype": "protein_coding", "start": 560207, "end": 564067, "strand": "+", "slug": "rassf7" }, { "symbol": "PHRF1", "ensemblId": "ENSG00000070047", "biotype": "protein_coding", "start": 576170, "end": 612263, "strand": "+", "slug": "phrf1" }, { "symbol": "IRF7", "ensemblId": "ENSG00000185507", "biotype": "protein_coding", "start": 612551, "end": 615983, "strand": "-", "slug": "irf7" }, { "symbol": "CDHR5", "ensemblId": "ENSG00000099834", "biotype": "protein_coding", "start": 616405, "end": 626078, "strand": "-", "slug": "cdhr5" }, { "symbol": "SCT", "ensemblId": "ENSG00000070031", "biotype": "protein_coding", "start": 626309, "end": 627236, "strand": "-", "slug": "sct" }, { "symbol": "DRD4", "ensemblId": "ENSG00000069696", "biotype": "protein_coding", "start": 637269, "end": 640706, "strand": "+", "slug": "drd4" }, { "symbol": "DEAF1", "ensemblId": "ENSG00000177030", "biotype": "protein_coding", "start": 644220, "end": 707118, "strand": "-", "slug": "deaf1" }, { "symbol": "EPS8L2", "ensemblId": "ENSG00000177106", "biotype": "protein_coding", "start": 694438, "end": 727729, "strand": "+", "slug": "eps8l2" }, { "symbol": "TMEM80", "ensemblId": "ENSG00000177042", "biotype": "protein_coding", "start": 695011, "end": 705028, "strand": "+", "slug": "tmem80" }, { "symbol": "TALDO1", "ensemblId": "ENSG00000177156", "biotype": "protein_coding", "start": 747399, "end": 765035, "strand": "+", "slug": "taldo1" }, { "symbol": "GATD1", "ensemblId": "ENSG00000177225", "biotype": "protein_coding", "start": 767061, "end": 777507, "strand": "-", "slug": "gatd1" }, { "symbol": "CEND1", "ensemblId": "ENSG00000184524", "biotype": "protein_coding", "start": 785900, "end": 790113, "strand": "-", "slug": "cend1" }, { "symbol": "SLC25A22", "ensemblId": "ENSG00000177542", "biotype": "protein_coding", "start": 790474, "end": 798321, "strand": "-", "slug": "slc25a22" }, { "symbol": "PANO1", "ensemblId": "ENSG00000288675", "biotype": "protein_coding", "start": 797511, "end": 799190, "strand": "+", "slug": "pano1" } ], "truncated": false }, "reports": [ { "slug": "osteogenesis-imperfecta", "name": "Osteogenesis imperfecta", "diseases": [ { "mondoId": "MONDO:0019019", "name": "Osteogenesis imperfecta", "genes": 34, "inheritance": null, "description": "Eine Gruppe erblicher Bindegewebserkrankungen, die zu Knochenbrüchigkeit und leichten Frakturen führt, häufig begleitet von blauen Skleren, Hörverlust und Zahnproblemen.", "management": "Zyklische intravenöse Bisphosphonate (Pamidronat, Zoledronat); orthopädische Marknagelung langer Röhrenknochen; Physiotherapie; Denosumab (im klinischen Einsatz bei pädiatrischer OI); Romosozumab (in Entwicklung); regelmäßige Hörprüfungen; zahnärztliche Behandlung bei Dentinogenesis imperfecta", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/de/conditions/osteogenesis-imperfecta" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-pelvic-girdle-bone-morphology", "name": "Abnormal shape of pelvic girdle bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/abnormal-pelvic-girdle-bone-morphology" }, { "slug": "anterior-radial-head-dislocation", "name": "Anterior radial head dislocation", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anterior-radial-head-dislocation" }, { "slug": "biconcave-vertebral-bodies", "name": "Biconcave vertebral bodies", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/biconcave-vertebral-bodies" }, { "slug": "blue-sclerae", "name": "Blue outer white part of eyeball", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/blue-sclerae" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "pes-planus", "name": "Dropped arches", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pes-planus" }, { "slug": "wormian-bones", "name": "Extra bones within cranial sutures", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/wormian-bones" }, { "slug": "hyperextensibility-of-the-finger-joints", "name": "Finger joint hyperextensibility", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperextensibility-of-the-finger-joints" }, { "slug": "platyspondyly", "name": "Flattened vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/platyspondyly" }, { "slug": "hyperextensibility-at-elbow", "name": "Hyperextensibility at elbow", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperextensibility-at-elbow" }, { "slug": "hyperplastic-callus-formation", "name": "Hyperplastic callus formation", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperplastic-callus-formation" }, { "slug": "limited-pronation-supination-of-forearm", "name": "Limited pronation/supination of forearm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/limited-pronation-supination-of-forearm" }, { "slug": "osteopenia", "name": "Osteopenia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/osteopenia" }, { "slug": "recurrent-fractures", "name": "Recurrent fractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-fractures" }, { "slug": "short-stature", "name": "Short stature", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/short-stature" }, { "slug": "triangular-face", "name": "Triangular face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/triangular-face" }, { "slug": "vertebral-wedging", "name": "Wedge-shaped vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/vertebral-wedging" } ], "related": [ { "slug": "ano5", "symbol": "ANO5", "name": "anoctamin 5", "shared": 1, "url": "https://dantelabs.com/de/genes/ano5" }, { "slug": "atp6v0a2", "symbol": "ATP6V0A2", "name": "ATPase H+ transporting V0 subunit a2", "shared": 1, "url": "https://dantelabs.com/de/genes/atp6v0a2" }, { "slug": "bmp1", "symbol": "BMP1", "name": "bone morphogenetic protein 1", "shared": 1, "url": "https://dantelabs.com/de/genes/bmp1" }, { "slug": "col1a1", "symbol": "COL1A1", "name": "collagen type I alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/de/genes/col1a1" }, { "slug": "col1a2", "symbol": "COL1A2", "name": "collagen type I alpha 2 chain", "shared": 1, "url": "https://dantelabs.com/de/genes/col1a2" }, { "slug": "creb3l1", "symbol": "CREB3L1", "name": "cAMP responsive element binding protein 3 like 1", "shared": 1, "url": "https://dantelabs.com/de/genes/creb3l1" }, { "slug": "crtap", "symbol": "CRTAP", "name": "cartilage associated protein", "shared": 1, "url": "https://dantelabs.com/de/genes/crtap" }, { "slug": "fkbp10", "symbol": "FKBP10", "name": "FKBP prolyl isomerase 10", "shared": 1, "url": "https://dantelabs.com/de/genes/fkbp10" }, { "slug": "gorab", "symbol": "GORAB", "name": "golgin, RAB6 interacting", "shared": 1, "url": "https://dantelabs.com/de/genes/gorab" }, { "slug": "ifih1", "symbol": "IFIH1", "name": "interferon induced with helicase C domain 1", "shared": 1, "url": "https://dantelabs.com/de/genes/ifih1" }, { "slug": "kdelr2", "symbol": "KDELR2", "name": "KDEL endoplasmic reticulum protein retention receptor 2", "shared": 1, "url": "https://dantelabs.com/de/genes/kdelr2" }, { "slug": "kif5b", "symbol": "KIF5B", "name": "kinesin family member 5B", "shared": 1, "url": "https://dantelabs.com/de/genes/kif5b" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }