{ "url": "https://dantelabs.com/pl/genes/gipc3", "gene": { "slug": "gipc3", "symbol": "GIPC3", "name": "GIPC PDZ domain containing family member 3", "hgnc": "HGNC:18183", "summary": null, "location": "19p13.3", "locusType": "gene with protein product", "aliases": [ "DFNB95" ], "previousSymbols": [ "C19orf64", "DFNB72", "DFNB15" ], "ensemblId": "ENSG00000179855", "entrezId": 126326, "omim": [ "608792" ], "uniprot": [ "Q8TF64" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 3585478, "end": 3593541, "strand": "+", "ensemblTranscript": "ENST00000644452.3", "refseqTranscript": "NM_133261.3", "ensemblProtein": "ENSP00000493901.2", "refseqProtein": "NP_573568.1", "exons": [ { "start": 3585478, "end": 3585822 }, { "start": 3586495, "end": 3586680 }, { "start": 3586814, "end": 3586994 }, { "start": 3589443, "end": 3589555 }, { "start": 3589831, "end": 3589912 }, { "start": 3590039, "end": 3593541 } ], "cds": { "start": 3585598, "end": 3590190 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 3585551, "end": 3593539, "strand": "+" }, "neighbourhood": { "release": "116", "start": 3089510, "end": 4089509, "genes": [ { "symbol": "GNA11", "ensemblId": "ENSG00000088256", "biotype": "protein_coding", "start": 3094320, "end": 3124001, "strand": "+", "slug": "gna11" }, { "symbol": "GNA15", "ensemblId": "ENSG00000060558", "biotype": "protein_coding", "start": 3136027, "end": 3163749, "strand": "+", "slug": "gna15" }, { "symbol": "S1PR4", "ensemblId": "ENSG00000125910", "biotype": "protein_coding", "start": 3172346, "end": 3180332, "strand": "+", "slug": "s1pr4" }, { "symbol": "NCLN", "ensemblId": "ENSG00000125912", "biotype": "protein_coding", "start": 3185563, "end": 3209575, "strand": "+", "slug": "ncln" }, { "symbol": "CELF5", "ensemblId": "ENSG00000161082", "biotype": "protein_coding", "start": 3224636, "end": 3297076, "strand": "+", "slug": "celf5" }, { "symbol": "NFIC", "ensemblId": "ENSG00000141905", "biotype": 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"symbol": "HMG20B", "ensemblId": "ENSG00000064961", "biotype": "protein_coding", "start": 3572692, "end": 3579088, "strand": "+", "slug": "hmg20b" }, { "symbol": "TBXA2R", "ensemblId": "ENSG00000006638", "biotype": "protein_coding", "start": 3594506, "end": 3606900, "strand": "-", "slug": "tbxa2r" }, { "symbol": "CACTIN", "ensemblId": "ENSG00000105298", "biotype": "protein_coding", "start": 3610643, "end": 3626833, "strand": "-", "slug": "cactin" }, { "symbol": "PIP5K1C", "ensemblId": "ENSG00000186111", "biotype": "protein_coding", "start": 3630181, "end": 3700506, "strand": "-", "slug": "pip5k1c" }, { "symbol": "TJP3", "ensemblId": "ENSG00000105289", "biotype": "protein_coding", "start": 3708310, "end": 3750813, "strand": "+", "slug": "tjp3" }, { "symbol": "APBA3", "ensemblId": "ENSG00000011132", "biotype": "protein_coding", "start": 3750772, "end": 3761700, "strand": "-", "slug": "apba3" }, { "symbol": "MRPL54", "ensemblId": "ENSG00000183617", "biotype": "protein_coding", "start": 3761841, "end": 3769033, "strand": "+", "slug": "mrpl54" }, { "symbol": "RAX2", "ensemblId": "ENSG00000173976", "biotype": "protein_coding", "start": 3769089, "end": 3772238, "strand": "-", "slug": "rax2" }, { "symbol": "MATK", "ensemblId": "ENSG00000007264", "biotype": "protein_coding", "start": 3777969, "end": 3802129, "strand": "-", "slug": "matk" }, { "symbol": "ZFR2", "ensemblId": "ENSG00000105278", "biotype": "protein_coding", "start": 3804024, "end": 3869055, "strand": "-", "slug": "zfr2" }, { "symbol": "ATCAY", "ensemblId": "ENSG00000167654", "biotype": "protein_coding", "start": 3879864, "end": 3928082, "strand": "+", "slug": "atcay" }, { "symbol": "NMRK2", "ensemblId": "ENSG00000077009", "biotype": "protein_coding", "start": 3932994, "end": 3943081, "strand": "+", "slug": "nmrk2" }, { "symbol": "DAPK3", "ensemblId": "ENSG00000167657", "biotype": "protein_coding", "start": 3958453, "end": 3971130, "strand": "-", "slug": "dapk3" }, { "symbol": "EEF2", "ensemblId": "ENSG00000167658", "biotype": "protein_coding", "start": 3976044, "end": 3985479, "strand": "-", "slug": "eef2" }, { "symbol": "PIAS4", "ensemblId": "ENSG00000105229", "biotype": "protein_coding", "start": 4007690, "end": 4039386, "strand": "+", "slug": "pias4" }, { "symbol": "ZBTB7A", "ensemblId": "ENSG00000178951", "biotype": "protein_coding", "start": 4041419, "end": 4067636, "strand": "-", "slug": "zbtb7a" } ], "truncated": false }, "reports": [ { "slug": "hearing-loss-and-deafness", "name": "Utrata słuchu i głuchota", "diseases": [ { "mondoId": "MONDO:0019497", "name": "Niezespołowa genetyczna utrata słuchu", "genes": 97, "inheritance": null, "description": "Dziedziczna utrata słuchu bez innych objawów medycznych, obejmująca częste recesywne postacie wywoływane przez GJB2, OTOF, SLC26A4, STRC i wiele innych genów, a także postacie dominujące, sprzężone z chromosomem X oraz mitochondrialne.", "management": "Znajomość genetycznej przyczyny może pomóc w wyborze wsparcia słuchowego i decyzji dotyczących implantu ślimakowego, kwalifikacji do badań terapii genowych (na przykład w przypadku OTOF) oraz poradnictwa rodzinnego.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 10 }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/pl/conditions/hearing-loss-and-deafness" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "prelingual-sensorineural-hearing-impairment", "name": "Prelingual sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/prelingual-sensorineural-hearing-impairment" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" } ], "related": [ { "slug": "actg1", "symbol": "ACTG1", "name": "actin gamma 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/actg1" }, { "slug": "afg2b", "symbol": "AFG2B", "name": "AAA ATPase AFG2B", "shared": 1, "url": "https://dantelabs.com/pl/genes/afg2b" }, { "slug": "aifm1", "symbol": "AIFM1", "name": "apoptosis inducing factor mitochondria associated 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/aifm1" }, { "slug": "atp11a", "symbol": "ATP11A", "name": "ATPase phospholipid transporting 11A", "shared": 1, "url": "https://dantelabs.com/pl/genes/atp11a" }, { "slug": "atp2b2", "symbol": "ATP2B2", "name": "ATPase plasma membrane Ca2+ transporting 2", "shared": 1, "url": "https://dantelabs.com/pl/genes/atp2b2" }, { "slug": "cabp2", "symbol": "CABP2", "name": "calcium binding protein 2", "shared": 1, "url": "https://dantelabs.com/pl/genes/cabp2" }, { "slug": "cd164", "symbol": "CD164", "name": "CD164 molecule", "shared": 1, "url": "https://dantelabs.com/pl/genes/cd164" }, { "slug": "cdc14a", "symbol": "CDC14A", "name": "cell division cycle 14A", "shared": 1, "url": "https://dantelabs.com/pl/genes/cdc14a" }, { "slug": "cdh23", "symbol": "CDH23", "name": "cadherin related 23", "shared": 1, "url": "https://dantelabs.com/pl/genes/cdh23" }, { "slug": "ceacam16", "symbol": "CEACAM16", "name": "CEA cell adhesion molecule 16, tectorial membrane component", "shared": 1, "url": "https://dantelabs.com/pl/genes/ceacam16" }, { "slug": "cib2", "symbol": "CIB2", "name": "calcium and integrin binding family member 2", "shared": 1, "url": "https://dantelabs.com/pl/genes/cib2" }, { "slug": "cldn14", "symbol": "CLDN14", "name": "claudin 14", "shared": 1, "url": "https://dantelabs.com/pl/genes/cldn14" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }