{ "url": "https://dantelabs.com/cs/genes/trpv3", "gene": { "slug": "trpv3", "symbol": "TRPV3", "name": "transient receptor potential cation channel subfamily V member 3", "hgnc": "HGNC:18084", "summary": null, "location": "17p13.2", "locusType": "gene with protein product", "aliases": [ "VRL3" ], "previousSymbols": [], "ensemblId": "ENSG00000167723", "entrezId": 162514, "omim": [ "607066" ], "uniprot": [ "Q8NET8" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 3510502, "end": 3557812, "strand": "-", "ensemblTranscript": "ENST00000576742.6", "refseqTranscript": "NM_145068.4", "ensemblProtein": "ENSP00000461518.2", "refseqProtein": "NP_659505.1", "exons": [ { "start": 3510502, "end": 3514011 }, { "start": 3514593, "end": 3514672 }, { "start": 3516457, "end": 3516569 }, { "start": 3518576, "end": 3518850 }, { "start": 3520973, "end": 3521039 }, { "start": 3524198, "end": 3524363 }, { "start": 3526854, "end": 3526927 }, { "start": 3528025, "end": 3528126 }, { 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"OR1R1", "ensemblId": "ENSG00000180042", "biotype": "protein_coding", "start": 3385930, "end": 3386874, "strand": "+", "slug": "or1r1" }, { "symbol": "OR1E1", "ensemblId": "ENSG00000180016", "biotype": "protein_coding", "start": 3397104, "end": 3398410, "strand": "-", "slug": "or1e1" }, { "symbol": "OR3A3", "ensemblId": "ENSG00000159961", "biotype": "protein_coding", "start": 3411370, "end": 3424070, "strand": "+", "slug": "or3a3" }, { "symbol": "OR1E2", "ensemblId": "ENSG00000127780", "biotype": "protein_coding", "start": 3432870, "end": 3433841, "strand": "-", "slug": "or1e2" }, { "symbol": "SPATA22", "ensemblId": "ENSG00000141255", "biotype": "protein_coding", "start": 3440011, "end": 3513852, "strand": "-", "slug": "spata22" }, { "symbol": "ASPA", "ensemblId": "ENSG00000108381", "biotype": "protein_coding", "start": 3472374, "end": 3503405, "strand": "+", "slug": "aspa" }, { "symbol": "TRPV1", "ensemblId": "ENSG00000196689", "biotype": "protein_coding", "start": 3565444, "end": 3609880, "strand": "-", "slug": "trpv1" }, { "symbol": "", "ensemblId": "ENSG00000262304", "biotype": "protein_coding", "start": 3585149, "end": 3636249, "strand": "-" }, { "symbol": "SHPK", "ensemblId": "ENSG00000197417", "biotype": "protein_coding", "start": 3607433, "end": 3636637, "strand": "-", "slug": "shpk" }, { "symbol": "CTNS", "ensemblId": "ENSG00000040531", "biotype": "protein_coding", "start": 3636446, "end": 3663103, "strand": "+", "slug": "ctns" }, { "symbol": "TAX1BP3", "ensemblId": "ENSG00000213977", "biotype": "protein_coding", "start": 3659751, "end": 3668679, "strand": "-", "slug": "tax1bp3" }, { "symbol": "P2RX5-TAX1BP3", "ensemblId": "ENSG00000257950", "biotype": "protein_coding", "start": 3663063, "end": 3696194, "strand": "-", "slug": "p2rx5-tax1bp3" }, { "symbol": "EMC6", "ensemblId": "ENSG00000127774", "biotype": "protein_coding", "start": 3668794, "end": 3672835, "strand": "+", "slug": "emc6" }, { "symbol": "P2RX5", "ensemblId": "ENSG00000083454", "biotype": "protein_coding", "start": 3669763, "end": 3696398, "strand": "-", "slug": "p2rx5" }, { "symbol": "ITGAE", "ensemblId": "ENSG00000083457", "biotype": "protein_coding", "start": 3714628, "end": 3801225, "strand": "-", "slug": "itgae" }, { "symbol": "HASPIN", "ensemblId": "ENSG00000177602", "biotype": "protein_coding", "start": 3723903, "end": 3726699, "strand": "+", "slug": "haspin" }, { "symbol": "NCBP3", "ensemblId": "ENSG00000074356", "biotype": "protein_coding", "start": 3802158, "end": 3846263, "strand": "-", "slug": "ncbp3" }, { "symbol": "CAMKK1", "ensemblId": "ENSG00000004660", "biotype": "protein_coding", "start": 3860315, "end": 3894891, "strand": "-", "slug": "camkk1" }, { "symbol": "P2RX1", "ensemblId": "ENSG00000108405", "biotype": "protein_coding", "start": 3896592, "end": 3916580, "strand": "-", "slug": "p2rx1" }, { "symbol": "ATP2A3", "ensemblId": "ENSG00000074370", "biotype": "protein_coding", "start": 3923866, "end": 3964499, "strand": "-", "slug": "atp2a3" }, { "symbol": "ZZEF1", "ensemblId": "ENSG00000074755", "biotype": "protein_coding", "start": 4004432, "end": 4143628, "strand": "-", "slug": "zzef1" } ], "truncated": false }, "reports": [ { "slug": "hereditary-palmoplantar-keratodermas", "name": "Hereditary Palmoplantar Keratodermas and Pachyonychia Congenita", "diseases": [ { "mondoId": "MONDO:0019272", "name": "Hereditary palmoplantar keratoderma", "genes": 35, "inheritance": null, "description": "Inherited thickening of the palms and soles, including pachyonychia congenita, mal de Meleda, Nagashima-type and Bothnian keratodermas, keratitis-ichthyosis-deafness syndrome, and the CTSC-related Papillon-Lefèvre and Haim-Munk syndromes.", "management": "Diagnosis guides foot care and pain management; for CTSC-related forms early dental treatment protects the teeth, and GJB2-related forms warrant a hearing check.", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/cs/conditions/hereditary-palmoplantar-keratodermas" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-the-dentition", "name": "Abnormal dentition", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-dentition" }, { "slug": "abnormal-fingernail-morphology", "name": "Abnormal fingernails", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-fingernail-morphology" }, { "slug": "abnormal-oral-mucosa-morphology", "name": "Abnormality of lining of mouth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-oral-mucosa-morphology" }, { "slug": "abnormal-gingiva-morphology", "name": "Abnormality of the gums", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-gingiva-morphology" }, { "slug": "abnormality-of-the-tongue", "name": "Abnormality of the tongue", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-tongue" }, { "slug": "alopecia-universalis", "name": "Alopecia universalis", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/alopecia-universalis" }, { "slug": "amniotic-constriction-ring", "name": "Amniotic constriction ring", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/amniotic-constriction-ring" }, { "slug": "ankylosis", "name": "Ankylosis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/ankylosis" }, { "slug": "nail-dysplasia", "name": "Atypical nail growth", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/nail-dysplasia" }, { "slug": "autoamputation-of-digits", "name": "Autoamputation of digits", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autoamputation-of-digits" }, { "slug": "osteolysis", "name": "Breakdown of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/osteolysis" }, { "slug": "melanoma", "name": "Cancer of skin pigment cells", "systems": [ "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/melanoma" }, { "slug": "corneal-opacity", "name": "Corneal opacity", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/corneal-opacity" }, { "slug": "skin-fissure", "name": "Cracked skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/skin-fissure" }, { "slug": "carious-teeth", "name": "Dental cavities", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/carious-teeth" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "hyperhidrosis", "name": "Excessive sweating", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyperhidrosis" }, { "slug": "palmoplantar-hyperhidrosis", "name": "Excessive sweating of palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/palmoplantar-hyperhidrosis" }, { "slug": "hypodontia", "name": "Failure of development of between one and six teeth", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypodontia" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "alopecia", "name": "Hair loss", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/alopecia" }, { "slug": "hyperparakeratosis", "name": "Hyperparakeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperparakeratosis" }, { "slug": "pruritus", "name": "Itching", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/pruritus" }, { "slug": "anhidrosis", "name": "Lack of sweating", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/anhidrosis" }, { "slug": "neoplasm-of-the-lung", "name": "Lung cancer", "systems": [ "abnormality-of-the-respiratory-system", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-lung" }, { "slug": "opacification-of-the-corneal-stroma", "name": "Opacification of the corneal stroma", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/opacification-of-the-corneal-stroma" }, { "slug": "skin-ulcer", "name": "Open skin sore", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skin-ulcer" }, { "slug": "orthokeratosis", "name": "Orthokeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/orthokeratosis" }, { "slug": "parakeratosis", "name": "Parakeratosis", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/parakeratosis" }, { "slug": "patchy-palmoplantar-hyperkeratosis", "name": "Patchy palmoplantar hyperkeratosis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/patchy-palmoplantar-hyperkeratosis" }, { "slug": "periorificial-hyperkeratosis", "name": "Periorificial hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/periorificial-hyperkeratosis" }, { "slug": "nail-dystrophy", "name": "Poor nail formation", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/nail-dystrophy" }, { "slug": "erythema", "name": "Redness of skin or mucous membrane", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/erythema" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "neoplasm-of-the-skin", "name": "Skin cancer", "systems": [ "abnormality-of-the-integument", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neoplasm-of-the-skin" }, { "slug": "sparse-hair", "name": "Sparse hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/sparse-hair" }, { "slug": "thickened-skin", "name": "Thickened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/thickened-skin" }, { "slug": "subungual-hyperkeratosis", "name": "Thickened, discolored skin under nail", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/subungual-hyperkeratosis" }, { "slug": "palmoplantar-keratoderma", "name": "Thickening of palms and soles", "systems": [ "abnormality-of-limbs", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/palmoplantar-keratoderma" } ], "related": [ { "slug": "aagab", "symbol": "AAGAB", "name": "alpha and gamma adaptin binding protein", "shared": 1, "url": "https://dantelabs.com/cs/genes/aagab" }, { "slug": "ap1b1", "symbol": "AP1B1", "name": "adaptor related protein complex 1 subunit beta 1", "shared": 1, "url": "https://dantelabs.com/cs/genes/ap1b1" }, { "slug": "aqp5", "symbol": "AQP5", "name": "aquaporin 5", "shared": 1, "url": "https://dantelabs.com/cs/genes/aqp5" }, { "slug": "ctsc", "symbol": "CTSC", "name": "cathepsin C", "shared": 1, "url": "https://dantelabs.com/cs/genes/ctsc" }, { "slug": "dsg1", "symbol": "DSG1", "name": "desmoglein 1", "shared": 1, "url": "https://dantelabs.com/cs/genes/dsg1" }, { "slug": "dsp", "symbol": "DSP", "name": "desmoplakin", "shared": 1, "url": "https://dantelabs.com/cs/genes/dsp" }, { "slug": "gja1", "symbol": "GJA1", "name": "gap junction protein alpha 1", "shared": 1, "url": "https://dantelabs.com/cs/genes/gja1" }, { "slug": "gjb2", "symbol": "GJB2", "name": "gap junction protein beta 2", "shared": 1, "url": "https://dantelabs.com/cs/genes/gjb2" }, { "slug": "gjb3", "symbol": "GJB3", "name": "gap junction protein beta 3", "shared": 1, "url": "https://dantelabs.com/cs/genes/gjb3" }, { "slug": "gjb4", "symbol": "GJB4", "name": "gap junction protein beta 4", "shared": 1, "url": "https://dantelabs.com/cs/genes/gjb4" }, { "slug": "gjb6", "symbol": "GJB6", "name": "gap junction protein beta 6", "shared": 1, "url": "https://dantelabs.com/cs/genes/gjb6" }, { "slug": "grhl2", "symbol": "GRHL2", "name": "grainyhead like transcription factor 2", "shared": 1, "url": "https://dantelabs.com/cs/genes/grhl2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }