{ "url": "https://dantelabs.com/sv/genes/itgb2", "gene": { "slug": "itgb2", "symbol": "ITGB2", "name": "integrin subunit beta 2", "hgnc": "HGNC:6155", "summary": null, "location": "21q22.3", "locusType": "gene with protein product", "aliases": [ "LFA-1", "MAC-1" ], "previousSymbols": [ "CD18", "MFI7" ], "ensemblId": "ENSG00000160255", "entrezId": 3689, "omim": [ "600065" ], "uniprot": [ "P05107" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "21", "start": 44885953, "end": 44920899, "strand": "-", "ensemblTranscript": "ENST00000652462.1", "refseqTranscript": "NM_000211.5", "ensemblProtein": "ENSP00000498780.1", "refseqProtein": "NP_000202.3", "exons": [ { "start": 44885953, "end": 44886430 }, { "start": 44886736, "end": 44886902 }, { "start": 44888693, "end": 44888895 }, { "start": 44889276, "end": 44889495 }, { "start": 44889978, "end": 44890222 }, { "start": 44891809, "end": 44891996 }, { "start": 44893404, "end": 44893544 }, { "start": 44894971, "end": 44895060 }, { 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"strand": "-", "slug": "tspear" }, { "symbol": "KRTAP10-1", "ensemblId": "ENSG00000215455", "biotype": "protein_coding", "start": 44538981, "end": 44540195, "strand": "-", "slug": "krtap10-1" }, { "symbol": "KRTAP10-2", "ensemblId": "ENSG00000205445", "biotype": "protein_coding", "start": 44550357, "end": 44551505, "strand": "-", "slug": "krtap10-2" }, { "symbol": "KRTAP10-3", "ensemblId": "ENSG00000212935", "biotype": "protein_coding", "start": 44557790, "end": 44558795, "strand": "-", "slug": "krtap10-3" }, { "symbol": "KRTAP10-4", "ensemblId": "ENSG00000215454", "biotype": "protein_coding", "start": 44573729, "end": 44575371, "strand": "+", "slug": "krtap10-4" }, { "symbol": "KRTAP10-5", "ensemblId": "ENSG00000241123", "biotype": "protein_coding", "start": 44579455, "end": 44580604, "strand": "-", "slug": "krtap10-5" }, { "symbol": "KRTAP10-6", "ensemblId": "ENSG00000188155", "biotype": "protein_coding", "start": 44591268, "end": 44592505, "strand": "-", "slug": "krtap10-6" }, { "symbol": "KRTAP10-7", "ensemblId": "ENSG00000272804", "biotype": "protein_coding", "start": 44600597, "end": 44602174, "strand": "+", "slug": "krtap10-7" }, { "symbol": "KRTAP10-8", "ensemblId": "ENSG00000187766", "biotype": "protein_coding", "start": 44612079, "end": 44612954, "strand": "+", "slug": "krtap10-8" }, { "symbol": "KRTAP10-9", "ensemblId": "ENSG00000221837", "biotype": "protein_coding", "start": 44627093, "end": 44628378, "strand": "+", "slug": "krtap10-9" }, { "symbol": "KRTAP10-10", "ensemblId": "ENSG00000221859", "biotype": "protein_coding", "start": 44637356, "end": 44638455, "strand": "+", "slug": "krtap10-10" }, { "symbol": "KRTAP10-11", "ensemblId": "ENSG00000243489", "biotype": "protein_coding", "start": 44646414, "end": 44647650, "strand": "+", "slug": "krtap10-11" }, { "symbol": "KRTAP12-4", "ensemblId": "ENSG00000212933", "biotype": "protein_coding", "start": 44654213, "end": 44654659, "strand": "-", "slug": "krtap12-4" }, { "symbol": "KRTAP12-3", "ensemblId": "ENSG00000205439", "biotype": "protein_coding", "start": 44657932, "end": 44658341, "strand": "+", "slug": "krtap12-3" }, { "symbol": "KRTAP12-2", "ensemblId": "ENSG00000221864", "biotype": "protein_coding", "start": 44666189, "end": 44666927, "strand": "-", "slug": "krtap12-2" }, { "symbol": "KRTAP12-1", "ensemblId": "ENSG00000187175", "biotype": "protein_coding", "start": 44681576, "end": 44682163, "strand": "-", "slug": "krtap12-1" }, { "symbol": "KRTAP10-12", "ensemblId": "ENSG00000189169", "biotype": "protein_coding", "start": 44697172, "end": 44698044, "strand": "+", "slug": "krtap10-12" }, { "symbol": "UBE2G2", "ensemblId": "ENSG00000184787", "biotype": "protein_coding", "start": 44768580, "end": 44801826, "strand": "-", "slug": "ube2g2" }, { "symbol": "SUMO3", "ensemblId": "ENSG00000184900", "biotype": "protein_coding", "start": 44805604, "end": 44818779, "strand": "-", "slug": "sumo3" }, { "symbol": "PTTG1IP", "ensemblId": "ENSG00000183255", "biotype": "protein_coding", "start": 44849585, "end": 44873903, "strand": "-", "slug": "pttg1ip" }, { "symbol": "SLX9", "ensemblId": "ENSG00000160256", "biotype": "protein_coding", "start": 44939938, "end": 44977014, "strand": "+", "slug": "slx9" }, { "symbol": "ADARB1", "ensemblId": "ENSG00000197381", "biotype": "protein_coding", "start": 45073839, "end": 45226560, "strand": "+", "slug": "adarb1" }, { "symbol": "POFUT2", "ensemblId": "ENSG00000186866", "biotype": "protein_coding", "start": 45263019, "end": 45287898, "strand": "-", "slug": "pofut2" } ], "truncated": false }, "reports": [ { "slug": "leukocyte-adhesion-deficiency", "name": "Leukocytadhesionsbrist", "diseases": [ { "mondoId": "MONDO:0017570", "name": "Leukocytadhesionsbrist", "genes": 3, "inheritance": "autosomal-recessive", "description": "Nedsatt vit blodkroppsadhesion orsakad av förändringar i båda kopiorna av ITGB2, SLC35C1 eller FERMT3.", "management": "Allvarliga former behandlas med stamcellstransplantation. Typ 2 kan svara på oralt fukos, och antibiotikaprofylax och tandvård minskar infektioner.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/leukocyte-adhesion-deficiency" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "osteomyelitis", "name": "Bone infection", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/osteomyelitis" }, { "slug": "chronic-diarrhea", "name": "Chronic diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chronic-diarrhea" }, { "slug": "delayed-umbilical-cord-separation", "name": "Delayed umbilical cord separation", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/delayed-umbilical-cord-separation" }, { "slug": "elevated-circulating-c-reactive-protein-concentration", "name": "Elevated circulating C-reactive protein concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-c-reactive-protein-concentration" }, { "slug": "increased-total-leukocyte-count", "name": "Elevated white blood count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-total-leukocyte-count" }, { "slug": "periodontitis", "name": "Gum disease", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/periodontitis" }, { "slug": "hyperfibrinogenemia", "name": "Hyperfibrinogenemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hyperfibrinogenemia" }, { "slug": "gingivitis", "name": "Inflamed gums", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gingivitis" }, { "slug": "neonatal-omphalitis", "name": "Neonatal omphalitis", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/neonatal-omphalitis" }, { "slug": "skin-ulcer", "name": "Open skin sore", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/skin-ulcer" }, { "slug": "poor-wound-healing", "name": "Poor wound healing", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/poor-wound-healing" }, { "slug": "rectal-abscess", "name": "Rectal abscess", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/rectal-abscess" }, { "slug": "recurrent-bacterial-infections", "name": "Recurrent bacterial infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-bacterial-infections" }, { "slug": "recurrent-gram-negative-bacterial-infections", "name": "Recurrent gram-negative bacterial infections", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/recurrent-gram-negative-bacterial-infections" }, { "slug": "recurrent-infections", "name": "Recurrent infections", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-infections" }, { "slug": "recurrent-mucocutaneous-candidiasis", "name": "Recurrent mucocutaneous candidiasis", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/recurrent-mucocutaneous-candidiasis" }, { "slug": "recurrent-staphylococcal-infections", "name": "Recurrent staphylococcal infections", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/recurrent-staphylococcal-infections" } ], "related": [ { "slug": "fermt3", "symbol": "FERMT3", "name": "FERM domain containing kindlin 3", "shared": 1, "url": "https://dantelabs.com/sv/genes/fermt3" }, { "slug": "slc35c1", "symbol": "SLC35C1", "name": "solute carrier family 35 member C1", "shared": 1, "url": "https://dantelabs.com/sv/genes/slc35c1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }