{ "url": "https://dantelabs.com/lt/genes/kdelr2", "gene": { "slug": "kdelr2", "symbol": "KDELR2", "name": "KDEL endoplasmic reticulum protein retention receptor 2", "hgnc": "HGNC:6305", "summary": null, "location": "7p22.1", "locusType": "gene with protein product", "aliases": [ "ELP-1", "ERD2.2" ], "previousSymbols": [], "ensemblId": "ENSG00000136240", "entrezId": 11014, "omim": [ "609024" ], "uniprot": [ "P33947" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "7", "start": 6461089, "end": 6484152, "strand": "-", "ensemblTranscript": "ENST00000258739.9", "refseqTranscript": "NM_006854.4", "ensemblProtein": "ENSP00000258739.4", "refseqProtein": "NP_006845.1", "exons": [ { "start": 6461089, "end": 6463175 }, { "start": 6466071, "end": 6466323 }, { "start": 6469596, "end": 6469754 }, { "start": 6474184, "end": 6474284 }, { "start": 6483967, "end": 6484152 } ], "cds": { "start": 6463141, "end": 6484057 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "7", "start": 6485584, "end": 6523873, "strand": "-" }, "neighbourhood": { "release": "116", "start": 5972621, "end": 6972620, "genes": [ { "symbol": "PMS2", "ensemblId": "ENSG00000122512", "biotype": "protein_coding", "start": 5970925, "end": 6009130, "strand": "-", "slug": "pms2" }, { "symbol": "AIMP2", "ensemblId": "ENSG00000106305", "biotype": "protein_coding", "start": 6009226, "end": 6024655, "strand": "+", "slug": "aimp2" }, { "symbol": "EIF2AK1", "ensemblId": "ENSG00000086232", "biotype": "protein_coding", "start": 6022247, "end": 6059240, "strand": "-", "slug": "eif2ak1" }, { "symbol": "ANKRD61", "ensemblId": "ENSG00000157999", "biotype": "protein_coding", "start": 6031376, "end": 6036552, "strand": "+", "slug": "ankrd61" }, { "symbol": "USP42", "ensemblId": "ENSG00000106346", "biotype": "protein_coding", "start": 6104755, "end": 6164429, "strand": "+", "slug": "usp42" }, { "symbol": "CYTH3", "ensemblId": "ENSG00000008256", "biotype": "protein_coding", "start": 6148751, "end": 6272677, "strand": "-", "slug": "cyth3" }, { "symbol": "FAM220A", "ensemblId": "ENSG00000178397", "biotype": "protein_coding", "start": 6329409, "end": 6348981, "strand": "-", "slug": "fam220a" }, { "symbol": "SMIM10L3", "ensemblId": "ENSG00000286075", "biotype": "protein_coding", "start": 6329409, "end": 6348967, "strand": "-", "slug": "smim10l3" }, { "symbol": "RAC1", "ensemblId": "ENSG00000136238", "biotype": "protein_coding", "start": 6374098, "end": 6404016, "strand": "+", "slug": "rac1" }, { "symbol": "DAGLB", "ensemblId": "ENSG00000164535", "biotype": "protein_coding", "start": 6406395, "end": 6484190, "strand": "-", "slug": "daglb" }, { "symbol": "GRID2IP", "ensemblId": "ENSG00000215045", "biotype": "protein_coding", "start": 6496778, "end": 6551461, "strand": "-", "slug": "grid2ip" }, { "symbol": "ZDHHC4", "ensemblId": "ENSG00000136247", "biotype": "protein_coding", "start": 6577405, "end": 6589374, "strand": "+", "slug": "zdhhc4" }, { "symbol": "INTS15", "ensemblId": "ENSG00000146576", "biotype": "protein_coding", "start": 6589564, "end": 6608785, "strand": "+", "slug": "ints15" }, { "symbol": "ZNF853", "ensemblId": "ENSG00000236609", "biotype": "protein_coding", "start": 6615305, "end": 6624290, "strand": "+", "slug": "znf853" }, { "symbol": "ZNF316", "ensemblId": "ENSG00000205903", "biotype": "protein_coding", "start": 6637298, "end": 6658279, "strand": "+", "slug": "znf316" }, { "symbol": "ZNF12", "ensemblId": "ENSG00000164631", "biotype": "protein_coding", "start": 6688433, "end": 6706979, "strand": "-", "slug": "znf12" }, { "symbol": "RSPH10B2", "ensemblId": "ENSG00000169402", "biotype": "protein_coding", "start": 6754101, "end": 6799365, "strand": "+", "slug": "rsph10b2" }, { "symbol": "CCZ1B", "ensemblId": "ENSG00000146574", "biotype": "protein_coding", "start": 6794134, "end": 6826770, "strand": "-", "slug": "ccz1b" } ], "truncated": false }, "reports": [ { "slug": "osteogenesis-imperfecta", "name": "Osteogenesis Imperfecta", "diseases": [ { "mondoId": "MONDO:0019019", "name": "Osteogenesis Imperfecta", "genes": 34, "inheritance": null, "description": "Paveldimų jungiamojo audinio ligų grupė, sukelianti trapius kaulus, kurie lengvai lūžta; dažnai pasireiškia mėlynos skleros, klausos sutrikimas ir dantų problemos.", "management": "Ciklinis IV bisfosfonatų (pamidronatas, zoledronatas) vartojimas; ilgųjų kaulų ortopedinis įvedimas į velenus (rodding); fizioterapija; denosumabas (taikomas gydant vaikus su OI klinikinėje praktikoje); romosozumabas (kuriamas); klausos stebėjimas; dantų priežiūra esant dentinogenezės nepilnavertei.", "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/lt/conditions/osteogenesis-imperfecta" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "barrel-shaped-chest", "name": "Barrel-shaped chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/barrel-shaped-chest" }, { "slug": "bell-shaped-thorax", "name": "Bell-shaped thorax", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/bell-shaped-thorax" }, { "slug": "bowing-of-the-legs", "name": "Bowed legs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "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": "frequent", "url": "https://dantelabs.com/traits/bowing-of-the-arm" }, { "slug": "coxa-valga", "name": "Coxa valga", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/coxa-valga" }, { "slug": "coxa-vara", "name": "Coxa vara", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/coxa-vara" }, { "slug": "disproportionate-short-limb-short-stature", "name": "Disproportionate short-limb short stature", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/disproportionate-short-limb-short-stature" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "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": "platyspondyly", "name": "Flattened vertebrae", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/platyspondyly" }, { "slug": "pectus-excavatum", "name": "Funnel chest", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pectus-excavatum" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "osteoporosis", "name": "Osteoporosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/osteoporosis" }, { "slug": "pes-valgus", "name": "Pes valgus", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pes-valgus" }, { "slug": "recurrent-fractures", "name": "Recurrent fractures", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/recurrent-fractures" }, { "slug": "scoliosis", "name": "Scoliosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/scoliosis" } ], "related": [ { "slug": "ano5", "symbol": "ANO5", "name": "anoctamin 5", "shared": 1, "url": "https://dantelabs.com/lt/genes/ano5" }, { "slug": "atp6v0a2", "symbol": "ATP6V0A2", "name": "ATPase H+ transporting V0 subunit a2", "shared": 1, "url": "https://dantelabs.com/lt/genes/atp6v0a2" }, { "slug": "bmp1", "symbol": "BMP1", "name": "bone morphogenetic protein 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/bmp1" }, { "slug": "col1a1", "symbol": "COL1A1", "name": "collagen type I alpha 1 chain", "shared": 1, "url": "https://dantelabs.com/lt/genes/col1a1" }, { "slug": "col1a2", "symbol": "COL1A2", "name": "collagen type I alpha 2 chain", "shared": 1, "url": "https://dantelabs.com/lt/genes/col1a2" }, { "slug": "creb3l1", "symbol": "CREB3L1", "name": "cAMP responsive element binding protein 3 like 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/creb3l1" }, { "slug": "crtap", "symbol": "CRTAP", "name": "cartilage associated protein", "shared": 1, "url": "https://dantelabs.com/lt/genes/crtap" }, { "slug": "fkbp10", "symbol": "FKBP10", "name": "FKBP prolyl isomerase 10", "shared": 1, "url": "https://dantelabs.com/lt/genes/fkbp10" }, { "slug": "gorab", "symbol": "GORAB", "name": "golgin, RAB6 interacting", "shared": 1, "url": "https://dantelabs.com/lt/genes/gorab" }, { "slug": "ifih1", "symbol": "IFIH1", "name": "interferon induced with helicase C domain 1", "shared": 1, "url": "https://dantelabs.com/lt/genes/ifih1" }, { "slug": "ifitm5", "symbol": "IFITM5", "name": "interferon induced transmembrane protein 5", "shared": 1, "url": "https://dantelabs.com/lt/genes/ifitm5" }, { "slug": "kif5b", "symbol": "KIF5B", "name": "kinesin family member 5B", "shared": 1, "url": "https://dantelabs.com/lt/genes/kif5b" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }