{ "url": "https://dantelabs.com/pl/genes/ikzf3", "gene": { "slug": "ikzf3", "symbol": "IKZF3", "name": "IKAROS family zinc finger 3", "hgnc": "HGNC:13178", "summary": null, "location": "17q12-q21.1", "locusType": "gene with protein product", "aliases": [ "Aiolos" ], "previousSymbols": [ "ZNFN1A3" ], "ensemblId": "ENSG00000161405", "entrezId": 22806, "omim": [ "606221" ], "uniprot": [ "Q9UKT9" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 39757718, "end": 39864312, "strand": "-", "ensemblTranscript": "ENST00000346872.8", "refseqTranscript": "NM_012481.5", "ensemblProtein": "ENSP00000344544.3", "refseqProtein": "NP_036613.2", "exons": [ { "start": 39757718, "end": 39766493 }, { "start": 39777651, "end": 39777767 }, { "start": 39788258, "end": 39788374 }, { "start": 39791416, "end": 39791583 }, { "start": 39792673, "end": 39792933 }, { "start": 39829387, "end": 39829488 }, { "start": 39832098, "end": 39832151 }, { "start": 39864120, "end": 39864312 } ], 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}, { "symbol": "CSF3", "ensemblId": "ENSG00000108342", "biotype": "protein_coding", "start": 40015361, "end": 40017816, "strand": "+", "slug": "csf3" }, { "symbol": "MED24", "ensemblId": "ENSG00000008838", "biotype": "protein_coding", "start": 40019097, "end": 40061215, "strand": "-", "slug": "med24" }, { "symbol": "THRA", "ensemblId": "ENSG00000126351", "biotype": "protein_coding", "start": 40058290, "end": 40093867, "strand": "+", "slug": "thra" }, { "symbol": "NR1D1", "ensemblId": "ENSG00000126368", "biotype": "protein_coding", "start": 40092793, "end": 40100630, "strand": "-", "slug": "nr1d1" }, { "symbol": "MSL1", "ensemblId": "ENSG00000188895", "biotype": "protein_coding", "start": 40121637, "end": 40136935, "strand": "+", "slug": "msl1" }, { "symbol": "CASC3", "ensemblId": "ENSG00000108349", "biotype": "protein_coding", "start": 40140278, "end": 40177001, "strand": "+", "slug": "casc3" }, { "symbol": "RAPGEFL1", "ensemblId": "ENSG00000108352", "biotype": "protein_coding", "start": 40177010, "end": 40195656, "strand": "+", "slug": "rapgefl1" }, { "symbol": "WIPF2", "ensemblId": "ENSG00000171475", "biotype": "protein_coding", "start": 40218743, "end": 40284136, "strand": "+", "slug": "wipf2" }, { "symbol": "CDC6", "ensemblId": "ENSG00000094804", "biotype": "protein_coding", "start": 40287831, "end": 40304657, "strand": "+", "slug": "cdc6" }, { "symbol": "RARA", "ensemblId": "ENSG00000131759", "biotype": "protein_coding", "start": 40309165, "end": 40357643, "strand": "+", "slug": "rara" } ], "truncated": false }, "reports": [ { "slug": "immunodeficiency-disease", "name": "Inne wrodzone błędy odporności", "diseases": [ { "mondoId": "MONDO:0021094", "name": "Niedobór odporności", "genes": 170, "inheritance": null, "description": "Choroba, w której dochodzi do niedoboru lub wady mechanizmów odporności, komórkowej lub humoralnej.", "management": "HSCT w przypadku SCID i ciężkich pierwotnych niedoborów odporności; substytucja immunoglobulinami (IVIG/SCIG) w przypadku niedoborów przeciwciał; leniolisib (Joenja, FDA 2023) w APDS; terapia genowa w ADA-SCID; abatacept w niedoborze CTLA4/LRBA; profilaktyczne antybiotyki; G-CSF w CGD", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/pl/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "b-cell-lymphoma", "name": "B-cell lymphoma", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/b-cell-lymphoma" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "decreased-total-b-cell-count", "name": "Low B cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-total-b-cell-count" }, { "slug": "perianal-abscess", "name": "Perianal abscess", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/perianal-abscess" }, { "slug": "persistent-ebv-viremia", "name": "Persistent EBV viremia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/persistent-ebv-viremia" }, { "slug": "recurrent-bacterial-infections", "name": "Recurrent bacterial infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-bacterial-infections" } ], "related": [ { "slug": "ada", "symbol": "ADA", "name": "adenosine deaminase", "shared": 1, "url": "https://dantelabs.com/pl/genes/ada" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 1, "url": "https://dantelabs.com/pl/genes/aicda" }, { "slug": "ak2", "symbol": "AK2", "name": "adenylate kinase 2", "shared": 1, "url": "https://dantelabs.com/pl/genes/ak2" }, { "slug": "arpc1b", "symbol": "ARPC1B", "name": "actin related protein 2/3 complex subunit 1B", "shared": 1, "url": "https://dantelabs.com/pl/genes/arpc1b" }, { "slug": "arpc5", "symbol": "ARPC5", "name": "actin related protein 2/3 complex subunit 5", "shared": 1, "url": "https://dantelabs.com/pl/genes/arpc5" }, { "slug": "atm", "symbol": "ATM", "name": "ATM serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/pl/genes/atm" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 1, "url": "https://dantelabs.com/pl/genes/atp6ap1" }, { "slug": "b2m", "symbol": "B2M", "name": "beta-2-microglobulin", "shared": 1, "url": "https://dantelabs.com/pl/genes/b2m" }, { "slug": "bach2", "symbol": "BACH2", "name": "BACH transcriptional regulator 2", "shared": 1, "url": "https://dantelabs.com/pl/genes/bach2" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 1, "url": "https://dantelabs.com/pl/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 1, "url": "https://dantelabs.com/pl/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 1, "url": "https://dantelabs.com/pl/genes/blnk" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }