{ "url": "https://dantelabs.com/sv/genes/krt9", "gene": { "slug": "krt9", "symbol": "KRT9", "name": "keratin 9", "hgnc": "HGNC:6447", "summary": null, "location": "17q21.2", "locusType": "gene with protein product", "aliases": [ "EPPK", "K9", "CK-9" ], "previousSymbols": [], "ensemblId": "ENSG00000171403", "entrezId": 3857, "omim": [ "607606" ], "uniprot": [ "P35527" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 41565836, "end": 41572059, "strand": "-", "ensemblTranscript": "ENST00000246662.9", "refseqTranscript": "NM_000226.4", "ensemblProtein": "ENSP00000246662.4", "refseqProtein": "NP_000217.2", "exons": [ { "start": 41565836, "end": 41566152 }, { "start": 41567233, "end": 41567750 }, { "start": 41568162, "end": 41568385 }, { "start": 41568508, "end": 41568633 }, { "start": 41569426, "end": 41569587 }, { "start": 41569859, "end": 41570015 }, { "start": 41570138, "end": 41570220 }, { "start": 41571351, "end": 41572059 } ], "cds": { "start": 41567273, "end": 41571992 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "17", "start": 39722096, "end": 39728310, "strand": "-" }, "neighbourhood": { "release": "116", "start": 41068948, "end": 42068947, "genes": [ { "symbol": "KRTAP4-7", "ensemblId": "ENSG00000240871", "biotype": "protein_coding", "start": 41084150, "end": 41085144, "strand": "+", "slug": "krtap4-7" }, { "symbol": "KRTAP4-8", "ensemblId": "ENSG00000204880", "biotype": "protein_coding", "start": 41096981, "end": 41098142, "strand": "-", "slug": "krtap4-8" }, { "symbol": "KRTAP4-16", "ensemblId": "ENSG00000241241", "biotype": "protein_coding", "start": 41101502, "end": 41102209, "strand": "-", "slug": "krtap4-16" }, { "symbol": "KRTAP4-9", "ensemblId": "ENSG00000212722", "biotype": "protein_coding", "start": 41105389, "end": 41106488, "strand": "+", "slug": "krtap4-9" }, { "symbol": "KRTAP4-11", "ensemblId": "ENSG00000212721", "biotype": "protein_coding", "start": 41117181, "end": 41118373, "strand": "-", "slug": "krtap4-11" }, { "symbol": "KRTAP4-12", "ensemblId": "ENSG00000213416", "biotype": "protein_coding", "start": 41123091, "end": 41124182, "strand": "-", "slug": "krtap4-12" }, { "symbol": "KRTAP4-6", "ensemblId": "ENSG00000198090", "biotype": "protein_coding", "start": 41139433, "end": 41140544, "strand": "-", "slug": "krtap4-6" }, { "symbol": "KRTAP4-5", "ensemblId": "ENSG00000198271", "biotype": "protein_coding", "start": 41148924, "end": 41149825, "strand": "-", "slug": "krtap4-5" }, { "symbol": "KRTAP4-4", "ensemblId": "ENSG00000171396", "biotype": "protein_coding", "start": 41159649, "end": 41160748, "strand": "-", "slug": "krtap4-4" }, { "symbol": "KRTAP4-3", "ensemblId": "ENSG00000196156", "biotype": "protein_coding", "start": 41167231, "end": 41168221, "strand": "-", "slug": "krtap4-3" }, { "symbol": "KRTAP4-2", "ensemblId": "ENSG00000244537", "biotype": "protein_coding", "start": 41177446, "end": 41178221, "strand": "-", "slug": "krtap4-2" }, { "symbol": "KRTAP4-1", "ensemblId": "ENSG00000198443", "biotype": "protein_coding", "start": 41184100, "end": 41184911, "strand": "-", "slug": "krtap4-1" }, { "symbol": "KRTAP9-1", "ensemblId": "ENSG00000240542", "biotype": "protein_coding", "start": 41189887, "end": 41190639, "strand": "+", "slug": "krtap9-1" }, { "symbol": "KRTAP9-2", "ensemblId": "ENSG00000239886", "biotype": "protein_coding", "start": 41226648, "end": 41227652, "strand": "+", "slug": "krtap9-2" }, { "symbol": "KRTAP9-3", "ensemblId": "ENSG00000204873", "biotype": "protein_coding", "start": 41232449, "end": 41233454, "strand": "+", "slug": "krtap9-3" }, { "symbol": "KRTAP9-8", "ensemblId": "ENSG00000187272", "biotype": "protein_coding", "start": 41237999, "end": 41239004, "strand": "+", "slug": "krtap9-8" }, { "symbol": "KRTAP9-4", "ensemblId": "ENSG00000241595", "biotype": "protein_coding", "start": 41249687, "end": 41250653, "strand": "+", "slug": "krtap9-4" }, { "symbol": "KRTAP9-9", "ensemblId": "ENSG00000198083", "biotype": "protein_coding", "start": 41255384, "end": 41256364, "strand": "+", "slug": "krtap9-9" }, { "symbol": "KRTAP9-6", "ensemblId": "ENSG00000212659", "biotype": "protein_coding", "start": 41265378, "end": 41265860, "strand": "+", "slug": "krtap9-6" }, { "symbol": "KRTAP9-7", "ensemblId": "ENSG00000180386", "biotype": "protein_coding", "start": 41275698, "end": 41276207, "strand": "+", "slug": "krtap9-7" }, { "symbol": "KRTAP29-1", "ensemblId": "ENSG00000212658", "biotype": "protein_coding", "start": 41301826, "end": 41302851, "strand": "-", "slug": "krtap29-1" }, { "symbol": "KRTAP16-1", "ensemblId": "ENSG00000212657", "biotype": "protein_coding", "start": 41307700, "end": 41309309, "strand": "-", "slug": "krtap16-1" }, { "symbol": "KRTAP17-1", "ensemblId": "ENSG00000186860", "biotype": "protein_coding", "start": 41314912, "end": 41315710, "strand": "-", "slug": "krtap17-1" }, { "symbol": "KRT33A", "ensemblId": "ENSG00000006059", "biotype": "protein_coding", "start": 41345665, "end": 41350828, "strand": "-", "slug": "krt33a" }, { "symbol": "KRT33B", "ensemblId": "ENSG00000131738", "biotype": "protein_coding", "start": 41363498, "end": 41369813, "strand": "-", "slug": "krt33b" }, { "symbol": "KRT34", "ensemblId": "ENSG00000131737", "biotype": "protein_coding", "start": 41377669, "end": 41382306, "strand": "-", "slug": "krt34" }, { "symbol": "KRT31", "ensemblId": "ENSG00000094796", "biotype": "protein_coding", "start": 41393721, "end": 41397611, "strand": "-", "slug": "krt31" }, { "symbol": "KRT37", "ensemblId": "ENSG00000108417", "biotype": "protein_coding", "start": 41420547, "end": 41424585, "strand": "-", "slug": "krt37" }, { "symbol": "KRT38", "ensemblId": "ENSG00000171360", "biotype": "protein_coding", "start": 41436154, "end": 41440983, "strand": "-", "slug": "krt38" }, { "symbol": "KRT32", "ensemblId": "ENSG00000108759", "biotype": "protein_coding", "start": 41459513, "end": 41467386, "strand": "-", "slug": "krt32" }, { "symbol": "KRT35", "ensemblId": "ENSG00000197079", "biotype": "protein_coding", "start": 41476710, "end": 41481151, "strand": "-", "slug": "krt35" }, { "symbol": "KRT36", "ensemblId": "ENSG00000126337", "biotype": "protein_coding", "start": 41486136, "end": 41492546, "strand": "-", "slug": "krt36" }, { "symbol": "KRT13", "ensemblId": "ENSG00000171401", "biotype": "protein_coding", "start": 41500981, "end": 41505758, "strand": "-", "slug": "krt13" }, { "symbol": "KRT15", "ensemblId": "ENSG00000171346", "biotype": "protein_coding", "start": 41513745, "end": 41522529, "strand": "-", "slug": "krt15" }, { "symbol": "KRT19", "ensemblId": "ENSG00000171345", "biotype": "protein_coding", "start": 41523613, "end": 41528370, "strand": "-", "slug": "krt19" }, { "symbol": "KRT14", "ensemblId": "ENSG00000186847", "biotype": "protein_coding", "start": 41582279, "end": 41586896, "strand": "-", "slug": "krt14" }, { "symbol": "KRT16", "ensemblId": "ENSG00000186832", "biotype": "protein_coding", "start": 41609778, "end": 41615899, "strand": "-", "slug": "krt16" }, { "symbol": "KRT17", "ensemblId": "ENSG00000128422", "biotype": "protein_coding", "start": 41619437, "end": 41624842, "strand": "-", "slug": "krt17" }, { "symbol": "EIF1", "ensemblId": "ENSG00000173812", "biotype": "protein_coding", "start": 41688883, "end": 41693623, "strand": "+", "slug": "eif1" }, { "symbol": "GAST", "ensemblId": "ENSG00000184502", "biotype": "protein_coding", "start": 41710999, "end": 41715973, "strand": "+", "slug": "gast" }, { "symbol": "HAP1", "ensemblId": "ENSG00000173805", "biotype": "protein_coding", "start": 41717742, "end": 41734646, "strand": "-", "slug": "hap1" }, { "symbol": "JUP", "ensemblId": "ENSG00000173801", "biotype": "protein_coding", "start": 41750887, "end": 41797798, "strand": "-", "slug": "jup" }, { "symbol": "P3H4", "ensemblId": "ENSG00000141696", "biotype": "protein_coding", "start": 41801944, "end": 41812750, "strand": "-", "slug": "p3h4" }, { "symbol": "FKBP10", "ensemblId": "ENSG00000141756", "biotype": "protein_coding", "start": 41812079, "end": 41823221, "strand": "+", "slug": "fkbp10" }, { "symbol": "NT5C3B", "ensemblId": "ENSG00000141698", "biotype": "protein_coding", "start": 41823972, "end": 41836271, "strand": "-", "slug": "nt5c3b" }, { "symbol": "KLHL10", "ensemblId": "ENSG00000161594", "biotype": "protein_coding", "start": 41835685, "end": 41848384, "strand": "+", "slug": "klhl10" }, { "symbol": "KLHL11", "ensemblId": "ENSG00000178502", "biotype": "protein_coding", "start": 41848513, "end": 41865430, "strand": "-", "slug": "klhl11" }, { "symbol": "ACLY", "ensemblId": "ENSG00000131473", "biotype": "protein_coding", "start": 41866916, "end": 41930551, "strand": "-", "slug": "acly" }, { "symbol": "ODAD4", "ensemblId": "ENSG00000204815", "biotype": "protein_coding", "start": 41930599, "end": 41966503, "strand": "+", "slug": "odad4" }, { "symbol": "CNP", "ensemblId": "ENSG00000173786", "biotype": "protein_coding", "start": 41966729, "end": 41977740, "strand": "+", "slug": "cnp" }, { "symbol": "DNAJC7", "ensemblId": "ENSG00000168259", "biotype": "protein_coding", "start": 41974005, "end": 42021376, "strand": "-", "slug": "dnajc7" }, { "symbol": "NKIRAS2", "ensemblId": "ENSG00000168256", "biotype": "protein_coding", "start": 42011382, "end": 42025644, "strand": "+", "slug": "nkiras2" }, { "symbol": "ZNF385C", "ensemblId": "ENSG00000187595", "biotype": "protein_coding", "start": 42025576, "end": 42098479, "strand": "-", "slug": "znf385c" }, { "symbol": "C17orf113", "ensemblId": "ENSG00000267221", "biotype": "protein_coding", "start": 42038232, "end": 42050601, "strand": "-", "slug": "c17orf113" } ], "truncated": false }, "reports": [ { "slug": "hereditary-palmoplantar-keratodermas", "name": "Ärftlig palmoplantar keratodermi och pachyonychia congenita", "diseases": [ { "mondoId": "MONDO:0019272", "name": "Ärftlig palmoplantar keratodermi", "genes": 35, "inheritance": null, "description": "Ärftlig förtjockning av handflatorna och fotsulorna, inklusive pachyonychia congenita, mal de Meleda, keratodermi av Nagashima-typ och Bothnia-typ, keratit-ichthyosis-dövhetssyndrom samt de CTSC-relaterade Papillon-Lefèvres och Haim-Munks syndrom.", "management": "Diagnosen styr fotvård och smärtbehandling. För CTSC-relaterade former skyddar tidig tandbehandling tänderna, och GJB2-relaterade former motiverar en hörselkontroll.", "evidence": { "gencc": [ "Ambry Genetics", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/hereditary-palmoplantar-keratodermas" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-blistering-of-the-skin", "name": "Abnormal blistering of the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin" }, { "slug": "abnormal-fingernail-morphology", "name": "Abnormal fingernails", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-fingernail-morphology" }, { "slug": "clubbing", "name": "Clubbing of fingers and toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/clubbing" }, { "slug": "diffuse-palmoplantar-hyperkeratosis", "name": "Diffuse palmoplantar hyperkeratosis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diffuse-palmoplantar-hyperkeratosis" }, { "slug": "hyperhidrosis", "name": "Excessive sweating", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperhidrosis" }, { "slug": "hypergranulosis", "name": "Hypergranulosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypergranulosis" }, { "slug": "hyperkeratosis", "name": "Hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hyperkeratosis" }, { "slug": "impaired-temperature-sensation", "name": "Impaired temperature sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-temperature-sensation" }, { "slug": "impaired-tactile-sensation", "name": "Impaired touch sensation", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impaired-tactile-sensation" }, { "slug": "increased-circulating-ige-concentration", "name": "Increased circulating IgE concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/increased-circulating-ige-concentration" }, { "slug": "interphalangeal-joint-contracture-of-finger", "name": "Interphalangeal joint contracture of finger", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/interphalangeal-joint-contracture-of-finger" }, { "slug": "knuckle-pad", "name": "Knuckle pad", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/knuckle-pad" }, { "slug": "localized-epidermolytic-hyperkeratosis", "name": "Localized epidermolytic hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/localized-epidermolytic-hyperkeratosis" }, { "slug": "palmar-hyperkeratosis", "name": "Palmar hyperkeratosis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/palmar-hyperkeratosis" }, { "slug": "camptodactyly", "name": "Permanent flexion of the finger or toe", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/camptodactyly" }, { "slug": "plantar-hyperkeratosis", "name": "Plantar hyperkeratosis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/plantar-hyperkeratosis" }, { "slug": "palmoplantar-hyperkeratosis", "name": "Thickening of the outer layer of the skin of the palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/palmoplantar-hyperkeratosis" }, { "slug": "epidermal-acanthosis", "name": "Thickening of upper layer of skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/epidermal-acanthosis" } ], "related": [ { "slug": "aagab", "symbol": "AAGAB", "name": "alpha and gamma adaptin binding protein", "shared": 1, "url": "https://dantelabs.com/sv/genes/aagab" }, { "slug": "ap1b1", "symbol": "AP1B1", "name": "adaptor related protein complex 1 subunit beta 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/ap1b1" }, { "slug": "aqp5", "symbol": "AQP5", "name": "aquaporin 5", "shared": 1, "url": "https://dantelabs.com/sv/genes/aqp5" }, { "slug": "ctsc", "symbol": "CTSC", "name": "cathepsin C", "shared": 1, "url": "https://dantelabs.com/sv/genes/ctsc" }, { "slug": "dsg1", "symbol": "DSG1", "name": "desmoglein 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/dsg1" }, { "slug": "dsp", "symbol": "DSP", "name": "desmoplakin", "shared": 1, "url": "https://dantelabs.com/sv/genes/dsp" }, { "slug": "gja1", "symbol": "GJA1", "name": "gap junction protein alpha 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/gja1" }, { "slug": "gjb2", "symbol": "GJB2", "name": "gap junction protein beta 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/gjb2" }, { "slug": "gjb3", "symbol": "GJB3", "name": "gap junction protein beta 3", "shared": 1, "url": "https://dantelabs.com/sv/genes/gjb3" }, { "slug": "gjb4", "symbol": "GJB4", "name": "gap junction protein beta 4", "shared": 1, "url": "https://dantelabs.com/sv/genes/gjb4" }, { "slug": "gjb6", "symbol": "GJB6", "name": "gap junction protein beta 6", "shared": 1, "url": "https://dantelabs.com/sv/genes/gjb6" }, { "slug": "grhl2", "symbol": "GRHL2", "name": "grainyhead like transcription factor 2", "shared": 1, "url": "https://dantelabs.com/sv/genes/grhl2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }