{ "url": "https://dantelabs.com/pt/genes/krt2", "gene": { "slug": "krt2", "symbol": "KRT2", "name": "keratin 2", "hgnc": "HGNC:6439", "summary": null, "location": "12q13.13", "locusType": "gene with protein product", "aliases": [ "KRTE" ], "previousSymbols": [ "KRT2A" ], "ensemblId": "ENSG00000172867", "entrezId": 3849, "omim": [ "600194" ], "uniprot": [ "P35908" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 52644558, "end": 52652211, "strand": "-", "ensemblTranscript": "ENST00000309680.4", "refseqTranscript": "NM_000423.3", "ensemblProtein": "ENSP00000310861.3", "refseqProtein": "NP_000414.2", "exons": [ { "start": 52644558, "end": 52645434 }, { "start": 52645535, "end": 52645569 }, { "start": 52646740, "end": 52646960 }, { "start": 52647730, "end": 52647855 }, { "start": 52648173, "end": 52648337 }, { "start": 52649007, "end": 52649102 }, { "start": 52649914, "end": 52649974 }, { "start": 52650339, "end": 52650553 }, { "start": 52651558, "end": 52652211 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"protein_coding", "start": 52487176, "end": 52493265, "strand": "-", "slug": "krt6a" }, { "symbol": "KRT5", "ensemblId": "ENSG00000186081", "biotype": "protein_coding", "start": 52514575, "end": 52520530, "strand": "-", "slug": "krt5" }, { "symbol": "KRT71", "ensemblId": "ENSG00000139648", "biotype": "protein_coding", "start": 52543909, "end": 52553145, "strand": "-", "slug": "krt71" }, { "symbol": "KRT74", "ensemblId": "ENSG00000170484", "biotype": "protein_coding", "start": 52565151, "end": 52573843, "strand": "-", "slug": "krt74" }, { "symbol": "KRT72", "ensemblId": "ENSG00000170486", "biotype": "protein_coding", "start": 52585589, "end": 52601538, "strand": "-", "slug": "krt72" }, { "symbol": "KRT73", "ensemblId": "ENSG00000186049", "biotype": "protein_coding", "start": 52607570, "end": 52618559, "strand": "-", "slug": "krt73" }, { "symbol": "KRT1", "ensemblId": "ENSG00000167768", "biotype": "protein_coding", "start": 52674736, "end": 52680407, "strand": "-", "slug": "krt1" }, { "symbol": "KRT77", "ensemblId": "ENSG00000189182", "biotype": "protein_coding", "start": 52689626, "end": 52703524, "strand": "-", "slug": "krt77" }, { "symbol": "KRT76", "ensemblId": "ENSG00000185069", "biotype": "protein_coding", "start": 52768155, "end": 52777345, "strand": "-", "slug": "krt76" }, { "symbol": "KRT3", "ensemblId": "ENSG00000186442", "biotype": "protein_coding", "start": 52789685, "end": 52796117, "strand": "-", "slug": "krt3" }, { "symbol": "KRT4", "ensemblId": "ENSG00000170477", "biotype": "protein_coding", "start": 52806549, "end": 52814116, "strand": "-", "slug": "krt4" }, { "symbol": "KRT79", "ensemblId": "ENSG00000185640", "biotype": "protein_coding", "start": 52821408, "end": 52834312, "strand": "-", "slug": "krt79" }, { "symbol": "KRT78", "ensemblId": "ENSG00000170423", "biotype": "protein_coding", "start": 52837804, "end": 52849092, "strand": "-", "slug": "krt78" }, { "symbol": "KRT8", "ensemblId": "ENSG00000170421", "biotype": "protein_coding", "start": 52897182, "end": 52949954, "strand": "-", "slug": "krt8" }, { "symbol": "KRT18", "ensemblId": "ENSG00000111057", "biotype": "protein_coding", "start": 52945688, "end": 52952911, "strand": "+", "slug": "krt18" }, { "symbol": "EIF4B", "ensemblId": "ENSG00000063046", "biotype": "protein_coding", "start": 53006263, "end": 53042230, "strand": "+", "slug": "eif4b" }, { "symbol": "TNS2", "ensemblId": "ENSG00000111077", "biotype": "protein_coding", "start": 53046969, "end": 53064621, "strand": "+", "slug": "tns2" }, { "symbol": "SPRYD3", "ensemblId": "ENSG00000167778", "biotype": "protein_coding", "start": 53064316, "end": 53079414, "strand": "-", "slug": "spryd3" }, { "symbol": "IGFBP6", "ensemblId": "ENSG00000167779", "biotype": "protein_coding", "start": 53097436, "end": 53102345, "strand": "+", "slug": "igfbp6" }, { "symbol": "SOAT2", "ensemblId": "ENSG00000167780", "biotype": "protein_coding", "start": 53103457, "end": 53124538, "strand": "+", "slug": "soat2" } ], "truncated": false }, "reports": [ { "slug": "inherited-ichthyoses", "name": "Ictioses Hereditárias", "diseases": [ { "mondoId": "MONDO:0017265", "name": "Ictiose congénita autossómica recessiva", "genes": 15, "inheritance": "autosomal-recessive", "description": "Um grupo de ictioses recessivas, incluindo a ictiose arlequim e a ictiose lamelar, normalmente presentes à nascença, frequentemente com uma membrana colodiónica.", "management": "O diagnóstico precoce orienta os cuidados neonatais, os regimes de emolientes e queratolíticos e as precauções em relação à intolerância ao calor.", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/inherited-ichthyoses" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-blistering-of-the-skin", "name": "Abnormal blistering of the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-blistering-of-the-skin" }, { "slug": "acantholysis", "name": "Acantholysis", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/acantholysis" }, { "slug": "congenital-bullous-ichthyosiform-erythroderma", "name": "Congenital bullous ichthyosiform erythroderma", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/congenital-bullous-ichthyosiform-erythroderma" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "ichthyosis", "name": "Ichthyosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ichthyosis" }, { "slug": "erythema", "name": "Redness of skin or mucous membrane", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/erythema" }, { "slug": "palmoplantar-keratoderma", "name": "Thickening of palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/palmoplantar-keratoderma" }, { "slug": "thin-skin", "name": "Thin skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thin-skin" } ], "related": [ { "slug": "abca12", "symbol": "ABCA12", "name": "ATP binding cassette subfamily A member 12", "shared": 1, "url": "https://dantelabs.com/pt/genes/abca12" }, { "slug": "alox12b", "symbol": "ALOX12B", "name": "arachidonate 12-lipoxygenase, 12R type", "shared": 1, "url": "https://dantelabs.com/pt/genes/alox12b" }, { "slug": "aloxe3", "symbol": "ALOXE3", "name": "arachidonate epidermal lipoxygenase 3", "shared": 1, "url": "https://dantelabs.com/pt/genes/aloxe3" }, { "slug": "cers3", "symbol": "CERS3", "name": "ceramide synthase 3", "shared": 1, "url": "https://dantelabs.com/pt/genes/cers3" }, { "slug": "csta", "symbol": "CSTA", "name": "cystatin A", "shared": 1, "url": "https://dantelabs.com/pt/genes/csta" }, { "slug": "cyp4f22", "symbol": "CYP4F22", "name": "cytochrome P450 family 4 subfamily F member 22", "shared": 1, "url": "https://dantelabs.com/pt/genes/cyp4f22" }, { "slug": "lipn", "symbol": "LIPN", "name": "lipase family member N", "shared": 1, "url": "https://dantelabs.com/pt/genes/lipn" }, { "slug": "nipal4", "symbol": "NIPAL4", "name": "NIPA like domain containing 4", "shared": 1, "url": "https://dantelabs.com/pt/genes/nipal4" }, { "slug": "pnpla1", "symbol": "PNPLA1", "name": "patatin like domain 1, omega-hydroxyceramide transacylase", "shared": 1, "url": "https://dantelabs.com/pt/genes/pnpla1" }, { "slug": "sdr9c7", "symbol": "SDR9C7", "name": "short chain dehydrogenase/reductase family 9C member 7", "shared": 1, "url": "https://dantelabs.com/pt/genes/sdr9c7" }, { "slug": "serpinb8", "symbol": "SERPINB8", "name": "serpin family B member 8", "shared": 1, "url": "https://dantelabs.com/pt/genes/serpinb8" }, { "slug": "st14", "symbol": "ST14", "name": "ST14 transmembrane serine protease matriptase", "shared": 1, "url": "https://dantelabs.com/pt/genes/st14" } ], "sources": { "bundleId": "2026.10.16-c6eea6bf", "panel": "2026-10-16", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }