{ "url": "https://dantelabs.com/ko/genes/hoxc13", "gene": { "slug": "hoxc13", "symbol": "HOXC13", "name": "homeobox C13", "hgnc": "HGNC:5125", "summary": null, "location": "12q13.13", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "HOX3", "HOX3G" ], "ensemblId": "ENSG00000123364", "entrezId": 3229, "omim": [ "142976" ], "uniprot": [ "P31276" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "12", "start": 53938831, "end": 53946544, "strand": "+", "ensemblTranscript": "ENST00000243056.5", "refseqTranscript": "NM_017410.3", "ensemblProtein": "ENSP00000243056.3", "refseqProtein": "NP_059106.2", "exons": [ { "start": 53938831, "end": 53939642 }, { "start": 53945000, "end": 53946544 } ], "cds": { "start": 53938907, "end": 53945256 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "12", "start": 54332535, "end": 54340328, "strand": "+" }, "neighbourhood": { "release": "116", "start": 53442688, "end": 54442687, "genes": [ { "symbol": "PRR13", "ensemblId": "ENSG00000205352", "biotype": "protein_coding", "start": 53441308, "end": 53446660, "strand": "+", "slug": "prr13" }, { "symbol": "PCBP2", "ensemblId": "ENSG00000197111", "biotype": "protein_coding", "start": 53451900, "end": 53484618, "strand": "+", "slug": "pcbp2" }, { "symbol": "MAP3K12", "ensemblId": "ENSG00000139625", "biotype": "protein_coding", "start": 53479669, "end": 53500063, "strand": "-", "slug": "map3k12" }, { "symbol": "TARBP2", "ensemblId": "ENSG00000139546", "biotype": "protein_coding", "start": 53500921, "end": 53506431, "strand": "+", "slug": "tarbp2" }, { "symbol": "NPFF", "ensemblId": "ENSG00000139574", "biotype": "protein_coding", "start": 53506684, "end": 53507491, "strand": "-", "slug": "npff" }, { "symbol": "ATF7-NPFF", "ensemblId": "ENSG00000267281", "biotype": "protein_coding", "start": 53506691, "end": 53625979, "strand": "-", "slug": "atf7-npff" }, { "symbol": "ATF7", "ensemblId": "ENSG00000170653", "biotype": "protein_coding", "start": 53507856, "end": 53626412, "strand": "-", "slug": "atf7" }, { "symbol": "ATP5MC2", "ensemblId": "ENSG00000135390", "biotype": "protein_coding", "start": 53626515, "end": 53678658, "strand": "-", "slug": "atp5mc2" }, { "symbol": "CALCOCO1", "ensemblId": "ENSG00000012822", "biotype": "protein_coding", "start": 53708517, "end": 53727745, "strand": "-", "slug": "calcoco1" }, { "symbol": "HOXC12", "ensemblId": "ENSG00000123407", "biotype": "protein_coding", "start": 53954903, "end": 53958956, "strand": "+", "slug": "hoxc12" }, { "symbol": "HOXC11", "ensemblId": "ENSG00000123388", "biotype": "protein_coding", "start": 53973126, "end": 53977643, "strand": "+", "slug": "hoxc11" }, { "symbol": "HOXC10", "ensemblId": "ENSG00000180818", "biotype": "protein_coding", "start": 53985065, "end": 53990279, "strand": "+", "slug": "hoxc10" }, { "symbol": "", "ensemblId": "ENSG00000273049", "biotype": "protein_coding", "start": 53985845, "end": 54034888, "strand": "+" }, { "symbol": "HOXC6", "ensemblId": "ENSG00000197757", "biotype": "protein_coding", "start": 53990624, "end": 54030823, "strand": "+", "slug": "hoxc6" }, { "symbol": "HOXC9", "ensemblId": "ENSG00000180806", "biotype": "protein_coding", "start": 53994895, "end": 54003337, "strand": "+", "slug": "hoxc9" }, { "symbol": "HOXC8", "ensemblId": "ENSG00000037965", "biotype": "protein_coding", "start": 54008911, "end": 54012769, "strand": "+", "slug": "hoxc8" }, { "symbol": "HOXC4", "ensemblId": "ENSG00000198353", "biotype": "protein_coding", "start": 54015897, "end": 54056030, "strand": "+", "slug": "hoxc4" }, { "symbol": "HOXC5", "ensemblId": "ENSG00000172789", "biotype": "protein_coding", "start": 54033048, "end": 54035361, "strand": "+", "slug": "hoxc5" }, { "symbol": "SMUG1", "ensemblId": "ENSG00000123415", "biotype": "protein_coding", "start": 54121277, "end": 54189008, "strand": "-", "slug": "smug1" }, { "symbol": "CBX5", "ensemblId": "ENSG00000094916", "biotype": "protein_coding", "start": 54230942, "end": 54280141, "strand": "-", "slug": "cbx5" }, { "symbol": "HNRNPA1", "ensemblId": "ENSG00000135486", "biotype": "protein_coding", "start": 54280193, "end": 54287088, "strand": "+", "slug": "hnrnpa1" }, { "symbol": "NFE2", "ensemblId": "ENSG00000123405", "biotype": "protein_coding", "start": 54292107, "end": 54301259, "strand": "-", "slug": "nfe2" }, { "symbol": "COPZ1", "ensemblId": "ENSG00000111481", "biotype": "protein_coding", "start": 54301202, "end": 54351848, "strand": "+", "slug": "copz1" }, { "symbol": "GPR84", "ensemblId": "ENSG00000139572", "biotype": "protein_coding", "start": 54362445, "end": 54364493, "strand": "-", "slug": "gpr84" }, { "symbol": "ZNF385A", "ensemblId": "ENSG00000161642", "biotype": "protein_coding", "start": 54369129, "end": 54391338, "strand": "-", "slug": "znf385a" }, { "symbol": "ITGA5", "ensemblId": "ENSG00000161638", "biotype": "protein_coding", "start": 54395261, "end": 54419515, "strand": "-", "slug": "itga5" } ], "truncated": false }, "reports": [ { "slug": "ectodermal-dysplasias", "name": "외배엽 이형성증", "diseases": [ { "mondoId": "MONDO:0013976", "name": "외배엽 이형성증 9형, 모발/손발톱 유형", "genes": 1, "inheritance": "autosomal-recessive", "description": "HOXC13 질환으로, 모발이 없거나 성글게 나며 손발톱 이상증이 나타납니다.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/ectodermal-dysplasias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "absent-eyebrow", "name": "Absent eyebrow", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-eyebrow" }, { "slug": "absent-eyelashes", "name": "Absent eyelashes", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-eyelashes" }, { "slug": "absent-hair", "name": "Absent hair", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/absent-hair" }, { "slug": "atrichia", "name": "Atrichia", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/atrichia" }, { "slug": "onycholysis-of-fingernails", "name": "Detachment of fingernails", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/onycholysis-of-fingernails" }, { "slug": "ectodermal-dysplasia", "name": "Ectodermal dysplasia", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ectodermal-dysplasia" }, { "slug": "inguinal-hernia", "name": "Inguinal hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inguinal-hernia" }, { "slug": "nail-dystrophy", "name": "Poor nail formation", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/nail-dystrophy" }, { "slug": "small-nail", "name": "Small nail", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/small-nail" }, { "slug": "sparse-hair", "name": "Sparse hair", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/sparse-hair" }, { "slug": "concave-nail", "name": "Spoon-shaped nails", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/concave-nail" }, { "slug": "unilateral-cryptorchidism", "name": "Unilateral cryptorchidism", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/unilateral-cryptorchidism" } ], "related": [], "sources": { "bundleId": "2026.10.18-e609d43e", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }