{ "url": "https://dantelabs.com/fi/genes/il2rb", "gene": { "slug": "il2rb", "symbol": "IL2RB", "name": "interleukin 2 receptor subunit beta", "hgnc": "HGNC:6009", "summary": null, "location": "22q12.3", "locusType": "gene with protein product", "aliases": [ "CD122" ], "previousSymbols": [ "IL15RB" ], "ensemblId": "ENSG00000100385", "entrezId": 3560, "omim": [ "146710" ], "uniprot": [ "P14784" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "22", "start": 37125843, "end": 37149916, "strand": "-", "ensemblTranscript": "ENST00000216223.10", "refseqTranscript": "NM_000878.5", "ensemblProtein": "ENSP00000216223.5", "refseqProtein": "NP_000869.1", "exons": [ { "start": 37125843, "end": 37128848 }, { "start": 37132384, "end": 37132468 }, { "start": 37135328, "end": 37135442 }, { "start": 37136228, "end": 37136393 }, { "start": 37137587, "end": 37137735 }, { "start": 37139117, "end": 37139222 }, { "start": 37142434, "end": 37142512 }, { "start": 37143521, "end": 37143635 }, { "start": 37144085, "end": 37144205 }, { "start": 37149825, "end": 37149916 } ], "cds": { "start": 37128096, "end": 37144172 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "22", "start": 37521878, "end": 37571094, "strand": "-" }, "neighbourhood": { "release": "116", "start": 36637880, "end": 37637879, "genes": [ { "symbol": "CACNG2", "ensemblId": "ENSG00000166862", "biotype": "protein_coding", "start": 36560857, "end": 36703779, "strand": "-", "slug": "cacng2" }, { "symbol": "IFT27", "ensemblId": "ENSG00000100360", "biotype": "protein_coding", "start": 36741346, "end": 36776309, "strand": "-", "slug": "ift27" }, { "symbol": "PVALB", "ensemblId": "ENSG00000100362", "biotype": "protein_coding", "start": 36800682, "end": 36819479, "strand": "-", "slug": "pvalb" }, { "symbol": "NCF4", "ensemblId": "ENSG00000100365", "biotype": "protein_coding", "start": 36860795, "end": 36878067, "strand": "+", "slug": "ncf4" }, { "symbol": "CSF2RB", "ensemblId": "ENSG00000100368", "biotype": "protein_coding", "start": 36913590, "end": 36940454, "strand": "+", "slug": "csf2rb" }, { "symbol": "CIMIP4", "ensemblId": "ENSG00000185264", "biotype": "protein_coding", "start": 36991119, "end": 37007884, "strand": "-", "slug": "cimip4" }, { "symbol": "TST", "ensemblId": "ENSG00000128311", "biotype": "protein_coding", "start": 37010859, "end": 37024797, "strand": "-", "slug": "tst" }, { "symbol": "MPST", "ensemblId": "ENSG00000128309", "biotype": "protein_coding", "start": 37019635, "end": 37029828, "strand": "+", "slug": "mpst" }, { "symbol": "KCTD17", "ensemblId": "ENSG00000100379", "biotype": "protein_coding", "start": 37051705, "end": 37063390, "strand": "+", "slug": "kctd17" }, { "symbol": "TMPRSS6", "ensemblId": "ENSG00000187045", "biotype": "protein_coding", "start": 37065005, "end": 37110890, "strand": "-", "slug": "tmprss6" }, { "symbol": "C1QTNF6", "ensemblId": "ENSG00000133466", "biotype": "protein_coding", "start": 37180166, "end": 37199385, "strand": "-", "slug": "c1qtnf6" }, { "symbol": "SSTR3", "ensemblId": "ENSG00000278195", "biotype": "protein_coding", "start": 37204237, "end": 37212482, "strand": "-", "slug": "sstr3" }, { "symbol": "RAC2", "ensemblId": "ENSG00000128340", "biotype": "protein_coding", "start": 37225270, "end": 37259594, "strand": "-", "slug": "rac2" }, { "symbol": "CYTH4", "ensemblId": "ENSG00000100055", "biotype": "protein_coding", "start": 37282027, "end": 37315346, "strand": "+", "slug": "cyth4" }, { "symbol": "ELFN2", "ensemblId": "ENSG00000166897", "biotype": "protein_coding", "start": 37367960, "end": 37427596, "strand": "-", "slug": "elfn2" }, { "symbol": "MFNG", "ensemblId": "ENSG00000100060", "biotype": "protein_coding", "start": 37464544, "end": 37486432, "strand": "-", "slug": "mfng" }, { "symbol": "CARD10", "ensemblId": "ENSG00000100065", "biotype": "protein_coding", "start": 37490362, "end": 37519591, "strand": "-", "slug": "card10" }, { "symbol": "CDC42EP1", "ensemblId": "ENSG00000128283", "biotype": "protein_coding", "start": 37555112, "end": 37571052, "strand": "+", "slug": "cdc42ep1" }, { "symbol": "LGALS2", "ensemblId": "ENSG00000100079", "biotype": "protein_coding", "start": 37570246, "end": 37582616, "strand": "-", "slug": "lgals2" }, { "symbol": "GGA1", "ensemblId": "ENSG00000100083", "biotype": "protein_coding", "start": 37608474, "end": 37633564, "strand": "+", "slug": "gga1" }, { "symbol": "SH3BP1", "ensemblId": "ENSG00000100092", "biotype": "protein_coding", "start": 37634654, "end": 37656117, "strand": "+", "slug": "sh3bp1" } ], "truncated": false }, "reports": [ { "slug": "ipex-and-tregopathies", "name": "IPEX-oireyhtymä ja muut tregopatiat", "diseases": [ { "mondoId": "MONDO:0032782", "name": "IL2RB-puutos (immuunipuutos 63)", "genes": 1, "inheritance": "autosomal-recessive", "description": "Varhain alkavaa autoimmuniteettia, lymfoproliferaatiota ja virusinfektioita. Sen aiheuttavat IL2RB-geenin molempien kopioiden muutokset.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/fi/conditions/ipex-and-tregopathies" }, { "slug": "immunodeficiency-disease", "name": "Muut synnynnäiset immuunijärjestelmän häiriöt", "diseases": [ { "mondoId": "MONDO:0021094", "name": "Immuunipuutossairaus", "genes": 170, "inheritance": null, "description": "Sairaus, jossa immuniteettimekanismeissa on puutetta tai vikaa, joko solullisessa tai humoraalisessa immuniteetissa.", "management": "HSCT vakavan yhdistelmäimmuunipuutoksen (SCID) ja vakavien primaaristen immuunipuutosten hoitoon; immunoglobuliinikorvaushoito (IVIG/SCIG) vasta-ainepuutoksiin; leniolisib (Joenja, FDA 2023) APDS-oireyhtymään; geenihoito ADA-SCID-tautiin; abatasepti CTLA4- ja LRBA-puutoksiin; profylaktiset antibiootit; G-CSF krooniseen granulomatoottiseen sairauteen (CGD)", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/fi/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-the-cervical-spine", "name": "Abnormal cervical spine", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-cervical-spine" }, { "slug": "abnormal-circulating-interleukin-concentration", "name": "Abnormal circulating interleukin concentration", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-interleukin-concentration" }, { "slug": "abnormality-of-the-ankle", "name": "Abnormality of the ankle", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-ankle" }, { "slug": "abnormality-of-the-hand", "name": "Abnormality of the hand", "systems": [ "abnormality-of-limbs" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-hand" }, { "slug": "abnormal-hip-joint-morphology", "name": "Abnormality of the hip joint", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-hip-joint-morphology" }, { "slug": "abnormality-of-the-temporomandibular-joint", "name": "Abnormality of the jaw joint", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-temporomandibular-joint" }, { "slug": "abnormal-metacarpophalangeal-joint-morphology", "name": "Abnormality of the knuckle", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-metacarpophalangeal-joint-morphology" }, { "slug": "abnormal-metatarsal-morphology", "name": "Abnormality of the long bone of foot", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-metatarsal-morphology" }, { "slug": "abnormal-shoulder-morphology", "name": "Abnormality of the shoulder", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-shoulder-morphology" }, { "slug": "abnormality-of-the-wrist", "name": "Abnormality of the wrist", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-the-wrist" }, { "slug": "ankle-swelling", "name": "Ankle swelling", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/ankle-swelling" }, { "slug": "anterior-chamber-synechiae", "name": "Anterior chamber synechiae", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anterior-chamber-synechiae" }, { "slug": "antinuclear-antibody-positivity", "name": "Antinuclear antibody positivity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/antinuclear-antibody-positivity" }, { "slug": "arthritis", "name": "Arthritis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/arthritis" }, { "slug": "autoimmune-hemolytic-anemia", "name": "Autoimmune hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/autoimmune-hemolytic-anemia" }, { "slug": "autoimmunity", "name": "Autoimmunity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/autoimmunity" }, { "slug": "band-keratopathy", "name": "Band keratopathy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/band-keratopathy" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "immunodeficiency", "name": "Decreased immune function", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/immunodeficiency" }, { "slug": "diarrhea", "name": "Diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/diarrhea" }, { "slug": "joint-hypermobility", "name": "Double-Jointed", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-hypermobility" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "hepatosplenomegaly", "name": "Enlarged liver and spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/hepatosplenomegaly" }, { "slug": "enthesitis", "name": "Enthesitis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/enthesitis" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "flexion-contracture", "name": "Flexed joint that cannot be straightened", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/flexion-contracture" }, { "slug": "recurrent-urinary-tract-infections", "name": "Frequent urinary tract infections", "systems": [ "abnormality-of-the-genitourinary-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/recurrent-urinary-tract-infections" }, { "slug": "glaucoma", "name": "Glaucoma", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/glaucoma" }, { "slug": "elevated-erythrocyte-sedimentation-rate", "name": "High ESR", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/elevated-erythrocyte-sedimentation-rate" }, { "slug": "hip-osteoarthritis", "name": "Hip osteoarthritis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hip-osteoarthritis" }, { "slug": "ichthyosis", "name": "Ichthyosis", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/ichthyosis" }, { "slug": "increased-circulating-igg-concentration", "name": "Increased circulating IgG concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-circulating-igg-concentration" }, { "slug": "increased-circulating-interferon-gamma-concentration", "name": "Increased circulating interferon-gamma concentration", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-interferon-gamma-concentration" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "inverted-cd4-cd8-ratio", "name": "Inverted CD4:CD8 ratio", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/inverted-cd4-cd8-ratio" }, { "slug": "iridocyclitis", "name": "Iridocyclitis", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/iridocyclitis" }, { "slug": "arthralgia", "name": "Joint pain", "systems": [ "constitutional-symptom" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/arthralgia" }, { "slug": "joint-stiffness", "name": "Joint stiffness", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-stiffness" }, { "slug": "joint-swelling", "name": "Joint swelling", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/joint-swelling" }, { "slug": "knee-osteoarthritis", "name": "Knee osteoarthritis", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/knee-osteoarthritis" }, { "slug": "decreased-fetal-movement", "name": "Less than 10 fetal movements in 12 hours", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/decreased-fetal-movement" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "low-grade-fever", "name": "Low-grade fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/low-grade-fever" }, { "slug": "lymphocytic-interstitial-pneumonia", "name": "Lymphocytic interstitial pneumonia", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lymphocytic-interstitial-pneumonia" }, { "slug": "mild-postnatal-growth-retardation", "name": "Mild growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/mild-postnatal-growth-retardation" }, { "slug": "myalgia", "name": "Muscle ache", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myalgia" }, { "slug": "oligoarthritis", "name": "Oligoarthritis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/oligoarthritis" }, { "slug": "persistent-cmv-viremia", "name": "Persistent CMV viremia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/persistent-cmv-viremia" }, { "slug": "recurrent-otitis-media", "name": "Recurrent middle ear infection", "systems": [ "abnormality-of-the-ear", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/recurrent-otitis-media" }, { "slug": "recurrent-respiratory-infections", "name": "Recurrent respiratory infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/recurrent-respiratory-infections" }, { "slug": "rheumatoid-arthritis", "name": "Rheumatoid arthritis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rheumatoid-arthritis" }, { "slug": "severe-postnatal-growth-retardation", "name": "Severe growth delay in children", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/severe-postnatal-growth-retardation" }, { "slug": "lymphadenopathy", "name": "Swollen lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lymphadenopathy" }, { "slug": "synovial-lining-hyperplasia", "name": "Synovial lining hyperplasia", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/synovial-lining-hyperplasia" }, { "slug": "synovitis", "name": "Synovitis", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/synovitis" }, { "slug": "uveitis", "name": "Uveitis", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/uveitis" }, { "slug": "visual-loss", "name": "Visual loss", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/visual-loss" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/weight-loss" } ], "related": [ { "slug": "ada", "symbol": "ADA", "name": "adenosine deaminase", "shared": 1, "url": "https://dantelabs.com/fi/genes/ada" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 1, "url": "https://dantelabs.com/fi/genes/aicda" }, { "slug": "ak2", "symbol": "AK2", "name": "adenylate kinase 2", "shared": 1, "url": "https://dantelabs.com/fi/genes/ak2" }, { "slug": "arpc1b", "symbol": "ARPC1B", "name": "actin related protein 2/3 complex subunit 1B", "shared": 1, "url": "https://dantelabs.com/fi/genes/arpc1b" }, { "slug": "arpc5", "symbol": "ARPC5", "name": "actin related protein 2/3 complex subunit 5", "shared": 1, "url": "https://dantelabs.com/fi/genes/arpc5" }, { "slug": "atm", "symbol": "ATM", "name": "ATM serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/fi/genes/atm" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 1, "url": "https://dantelabs.com/fi/genes/atp6ap1" }, { "slug": "b2m", "symbol": "B2M", "name": "beta-2-microglobulin", "shared": 1, "url": "https://dantelabs.com/fi/genes/b2m" }, { "slug": "bach2", "symbol": "BACH2", "name": "BACH transcriptional regulator 2", "shared": 1, "url": "https://dantelabs.com/fi/genes/bach2" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 1, "url": "https://dantelabs.com/fi/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 1, "url": "https://dantelabs.com/fi/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 1, "url": "https://dantelabs.com/fi/genes/blnk" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }