{ "url": "https://dantelabs.com/no/genes/slurp1", "gene": { "slug": "slurp1", "symbol": "SLURP1", "name": "secreted LY6/PLAUR domain containing 1", "hgnc": "HGNC:18746", "summary": null, "location": "8q24.3", "locusType": "gene with protein product", "aliases": [ "ARS", "ANUP", "MDM", "ArsB", "LY6LS", "LY6-MT" ], "previousSymbols": [], "ensemblId": "ENSG00000126233", "entrezId": 57152, "omim": [ "606119" ], "uniprot": [ "P55000" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "8", "start": 142740949, "end": 142742406, "strand": "-", "ensemblTranscript": "ENST00000246515.2", "refseqTranscript": "NM_020427.3", "ensemblProtein": "ENSP00000246515.1", "refseqProtein": "NP_065160.1", "exons": [ { "start": 142740949, "end": 142741276 }, { "start": 142741803, "end": 142741922 }, { "start": 142742328, "end": 142742406 } ], "cds": { "start": 142741143, "end": 142742385 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "8", "start": 143822362, "end": 143823829, "strand": "-" }, "neighbourhood": { "release": "116", "start": 142241678, "end": 143241677, "genes": [ { "symbol": "TSNARE1", "ensemblId": "ENSG00000171045", "biotype": "protein_coding", "start": 142212077, "end": 142403270, "strand": "-", "slug": "tsnare1" }, { "symbol": "ADGRB1", "ensemblId": "ENSG00000181790", "biotype": "protein_coding", "start": 142449430, "end": 142545009, "strand": "+", "slug": "adgrb1" }, { "symbol": "ARC", "ensemblId": "ENSG00000198576", "biotype": "protein_coding", "start": 142611049, "end": 142614479, "strand": "-", "slug": "arc" }, { "symbol": "JRK", "ensemblId": "ENSG00000234616", "biotype": "protein_coding", "start": 142657460, "end": 142681968, "strand": "-", "slug": "jrk" }, { "symbol": "PSCA", "ensemblId": "ENSG00000167653", "biotype": "protein_coding", "start": 142670308, "end": 142682725, "strand": "+", "slug": "psca" }, { "symbol": "LY6K", "ensemblId": "ENSG00000160886", "biotype": "protein_coding", "start": 142699988, "end": 142705190, "strand": "+", "slug": "ly6k" }, { "symbol": "THEM6", "ensemblId": "ENSG00000130193", "biotype": "protein_coding", "start": 142727176, "end": 142736938, "strand": "+", "slug": "them6" }, { "symbol": "LYPD2", "ensemblId": "ENSG00000197353", "biotype": "protein_coding", "start": 142750150, "end": 142753006, "strand": "-", "slug": "lypd2" }, { "symbol": "SLURP2", "ensemblId": "ENSG00000283992", "biotype": "protein_coding", "start": 142764334, "end": 142769828, "strand": "-", "slug": "slurp2" }, { "symbol": "LYNX1-SLURP2", "ensemblId": "ENSG00000284505", "biotype": "protein_coding", "start": 142764334, "end": 142778224, "strand": "-", "slug": "lynx1-slurp2" }, { "symbol": "LYNX1", "ensemblId": "ENSG00000180155", "biotype": "protein_coding", "start": 142771197, "end": 142777889, "strand": "-", "slug": "lynx1" }, { "symbol": "LY6D", "ensemblId": "ENSG00000167656", "biotype": "protein_coding", "start": 142784881, "end": 142786546, "strand": "-", "slug": "ly6d" }, { "symbol": "GML", "ensemblId": "ENSG00000104499", "biotype": "protein_coding", "start": 142834171, "end": 142916506, "strand": "+", "slug": "gml" }, { "symbol": "CYP11B1", "ensemblId": "ENSG00000160882", "biotype": "protein_coding", "start": 142871305, "end": 142880000, "strand": "-", "slug": "cyp11b1" }, { "symbol": "CYP11B2", "ensemblId": "ENSG00000179142", "biotype": "protein_coding", "start": 142910424, "end": 142917943, "strand": "-", "slug": "cyp11b2" }, { "symbol": "LY6E", "ensemblId": "ENSG00000160932", "biotype": "protein_coding", "start": 143012722, "end": 143023835, "strand": "+", "slug": "ly6e" }, { "symbol": "LY6S", "ensemblId": "ENSG00000291309", "biotype": "protein_coding", "start": 143040839, "end": 143048357, "strand": "-", "slug": "ly6s" }, { "symbol": "LY6L", "ensemblId": "ENSG00000261667", "biotype": "protein_coding", "start": 143080299, "end": 143083486, "strand": "+", "slug": "ly6l" }, { "symbol": "LY6H", "ensemblId": "ENSG00000176956", "biotype": "protein_coding", "start": 143157914, "end": 143160711, "strand": "-", "slug": "ly6h" }, { "symbol": "GPIHBP1", "ensemblId": "ENSG00000277494", "biotype": "protein_coding", "start": 143213019, "end": 143217172, "strand": "+", "slug": "gpihbp1" } ], "truncated": false }, "reports": [ { "slug": "hereditary-palmoplantar-keratodermas", "name": "Arvelige palmoplantare keratodermier og pachyonychia congenita", "diseases": [ { "mondoId": "MONDO:0019272", "name": "Arvelig palmoplantar keratoderm", "genes": 35, "inheritance": null, "description": "Arvelig fortykkelse av håndflater og fotsåler, herunder pachyonychia congenita, mal de Meleda, keratodermier av Nagashima- og Bothnia-typen, keratitt-ichthyosis-døvhetssyndrom, og Papillon-Lefèvres og Haim-Munks syndromer knyttet til CTSC.", "management": "Diagnosen styrer fotpleie og smertebehandling. For former knyttet til CTSC beskytter tidlig tannbehandling tennene, og former knyttet til GJB2 bør få kontrollert hørselen.", "evidence": { "gencc": [ "Ambry Genetics", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/no/conditions/hereditary-palmoplantar-keratodermas" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-foot-morphology", "name": "Abnormal feet structure", "systems": [ "abnormality-of-limbs" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-foot-morphology" }, { "slug": "abnormality-of-the-hand", "name": "Abnormality of the hand", "systems": [ "abnormality-of-limbs" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-hand" }, { "slug": "autoamputation", "name": "Autoamputation", "systems": [ "abnormality-of-limbs" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/autoamputation" }, { "slug": "fragile-nails", "name": "Brittle nails", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/fragile-nails" }, { "slug": "congenital-symmetrical-palmoplantar-keratosis", "name": "Congenital symmetrical palmoplantar keratosis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/congenital-symmetrical-palmoplantar-keratosis" }, { "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": "frequent", "url": "https://dantelabs.com/traits/hyperhidrosis" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "hyperkeratosis-with-erythema", "name": "Hyperkeratosis with erythema", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperkeratosis-with-erythema" }, { "slug": "ichthyosis", "name": "Ichthyosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ichthyosis" }, { "slug": "inflammatory-abnormality-of-the-skin", "name": "Inflammatory abnormality of the skin", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/inflammatory-abnormality-of-the-skin" }, { "slug": "lichenoid-skin-lesion", "name": "Lichenoid skin lesion", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lichenoid-skin-lesion" }, { "slug": "nonepidermolytic-palmoplantar-hyperkeratosis", "name": "Nonepidermolytic palmoplantar hyperkeratosis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nonepidermolytic-palmoplantar-hyperkeratosis" }, { "slug": "perioral-erythema", "name": "Perioral erythema", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/perioral-erythema" }, { "slug": "erythema", "name": "Redness of skin or mucous membrane", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/erythema" }, { "slug": "brachydactyly", "name": "Short fingers or toes", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/brachydactyly" }, { "slug": "superficial-dermal-perivascular-inflammatory-infiltrate", "name": "Superficial dermal perivascular inflammatory infiltrate", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/superficial-dermal-perivascular-inflammatory-infiltrate" }, { "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": "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/no/genes/aagab" }, { "slug": "ap1b1", "symbol": "AP1B1", "name": "adaptor related protein complex 1 subunit beta 1", "shared": 1, "url": "https://dantelabs.com/no/genes/ap1b1" }, { "slug": "aqp5", "symbol": "AQP5", "name": "aquaporin 5", "shared": 1, "url": "https://dantelabs.com/no/genes/aqp5" }, { "slug": "ctsc", "symbol": "CTSC", "name": "cathepsin C", "shared": 1, "url": "https://dantelabs.com/no/genes/ctsc" }, { "slug": "dsg1", "symbol": "DSG1", "name": "desmoglein 1", "shared": 1, "url": "https://dantelabs.com/no/genes/dsg1" }, { "slug": "dsp", "symbol": "DSP", "name": "desmoplakin", "shared": 1, "url": "https://dantelabs.com/no/genes/dsp" }, { "slug": "gja1", "symbol": "GJA1", "name": "gap junction protein alpha 1", "shared": 1, "url": "https://dantelabs.com/no/genes/gja1" }, { "slug": "gjb2", "symbol": "GJB2", "name": "gap junction protein beta 2", "shared": 1, "url": "https://dantelabs.com/no/genes/gjb2" }, { "slug": "gjb3", "symbol": "GJB3", "name": "gap junction protein beta 3", "shared": 1, "url": "https://dantelabs.com/no/genes/gjb3" }, { "slug": "gjb4", "symbol": "GJB4", "name": "gap junction protein beta 4", "shared": 1, "url": "https://dantelabs.com/no/genes/gjb4" }, { "slug": "gjb6", "symbol": "GJB6", "name": "gap junction protein beta 6", "shared": 1, "url": "https://dantelabs.com/no/genes/gjb6" }, { "slug": "grhl2", "symbol": "GRHL2", "name": "grainyhead like transcription factor 2", "shared": 1, "url": "https://dantelabs.com/no/genes/grhl2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }