{ "url": "https://dantelabs.com/de/genes/cd40", "gene": { "slug": "cd40", "symbol": "CD40", "name": "CD40 molecule", "hgnc": "HGNC:11919", "summary": null, "location": "20q13.12", "locusType": "gene with protein product", "aliases": [ "p50", "Bp50" ], "previousSymbols": [ "TNFRSF5" ], "ensemblId": "ENSG00000101017", "entrezId": 958, "omim": [ "109535" ], "uniprot": [ "P25942" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "20", "start": 46118314, "end": 46129858, "strand": "+", "ensemblTranscript": "ENST00000372285.8", "refseqTranscript": "NM_001250.6", "ensemblProtein": "ENSP00000361359.3", "refseqProtein": "NP_001241.1", "exons": [ { "start": 46118314, "end": 46118394 }, { "start": 46121820, "end": 46121898 }, { "start": 46122233, "end": 46122358 }, { "start": 46122610, "end": 46122756 }, { "start": 46123126, "end": 46123219 }, { "start": 46126640, "end": 46126701 }, { "start": 46128138, "end": 46128224 }, { "start": 46128330, "end": 46128358 }, { "start": 46128882, 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45912235, "strand": "-", "slug": "pltp" }, { "symbol": "PCIF1", "ensemblId": "ENSG00000100982", "biotype": "protein_coding", "start": 45934673, "end": 45948023, "strand": "+", "slug": "pcif1" }, { "symbol": "ZNF335", "ensemblId": "ENSG00000198026", "biotype": "protein_coding", "start": 45948653, "end": 45972358, "strand": "-", "slug": "znf335" }, { "symbol": "MMP9", "ensemblId": "ENSG00000100985", "biotype": "protein_coding", "start": 46008869, "end": 46016561, "strand": "+", "slug": "mmp9" }, { "symbol": "SLC12A5", "ensemblId": "ENSG00000124140", "biotype": "protein_coding", "start": 46021675, "end": 46060150, "strand": "+", "slug": "slc12a5" }, { "symbol": "NCOA5", "ensemblId": "ENSG00000124160", "biotype": "protein_coding", "start": 46060984, "end": 46089973, "strand": "-", "slug": "ncoa5" }, { "symbol": "CDH22", "ensemblId": "ENSG00000149654", "biotype": "protein_coding", "start": 46173737, "end": 46309009, "strand": "-", "slug": "cdh22" }, { "symbol": "SLC35H1", "ensemblId": "ENSG00000080189", "biotype": "protein_coding", "start": 46345980, "end": 46364460, "strand": "-", "slug": "slc35h1" }, { "symbol": "ELMO2", "ensemblId": "ENSG00000062598", "biotype": "protein_coding", "start": 46366045, "end": 46432985, "strand": "-", "slug": "elmo2" }, { "symbol": "ZNF840P", "ensemblId": "ENSG00000184617", "biotype": "protein_coding", "start": 46459441, "end": 46495558, "strand": "+", "slug": "znf840p" }, { "symbol": "ZNF334", "ensemblId": "ENSG00000198185", "biotype": "protein_coding", "start": 46499630, "end": 46513596, "strand": "-", "slug": "znf334" }, { "symbol": "OCSTAMP", "ensemblId": "ENSG00000149635", "biotype": "protein_coding", "start": 46540946, "end": 46550654, "strand": "-", "slug": "ocstamp" }, { "symbol": "SLC13A3", "ensemblId": "ENSG00000158296", "biotype": "protein_coding", "start": 46557823, "end": 46684467, "strand": "-", "slug": "slc13a3" } ], "truncated": false }, "reports": [ { "slug": "hyper-igm-syndromes", "name": "Hyper-IgM-Syndrome", "diseases": [ { "mondoId": "MONDO:0003947", "name": "Hyper-IgM-Syndrom", "genes": 4, "inheritance": null, "description": "Gestörter Antikörperklassenwechsel, verursacht durch Veränderungen in CD40LG (X-chromosomal), CD40, AICDA oder UNG.", "management": "Die Gabe von Immunglobulinen ist die Standardbehandlung. Bei einem CD40L- und CD40-Mangel ist zusätzlich eine Pneumocystis-Prophylaxe erforderlich, außerdem sauberes Trinkwasser zur Vorbeugung einer Cryptosporidien-Infektion sowie die Prüfung einer Stammzelltransplantation.", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/hyper-igm-syndromes" }, { "slug": "immunodeficiency-disease", "name": "Sonstige angeborene Immundefekte", "diseases": [ { "mondoId": "MONDO:0003778", "name": "Inborn error of immunity", "genes": 114, "inheritance": null, "description": "Erbliche Störungen des Immunsystems, die durch Veränderungen einzelner Gene verursacht werden und beeinflussen, wie der Körper Infektionen abwehrt oder Entzündungen reguliert.", "management": null, "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true }, { "mondoId": "MONDO:0021094", "name": "Immundefekterkrankung", "genes": 170, "inheritance": null, "description": "Erkrankung, bei der ein Mangel oder Defekt der Immunmechanismen vorliegt, entweder zellulärer oder humoraler Art.", "management": "HSCT bei SCID und schweren PID; Immunglobulinsubstitution (IVIG/SCIG) bei Antikörpermangelerkrankungen; Leniolisib (Joenja, FDA 2023) bei APDS; Gentherapie bei ADA-SCID; Abatacept bei CTLA4/LRBA-Mangel; prophylaktische Antibiotika; G-CSF bei CGD", "evidence": { "gencc": [ "ClinGen", "Labcorp Genetics (formerly Invitae)" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/de/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "absence-of-lymph-node-germinal-center", "name": "Absence of lymph node germinal center", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/absence-of-lymph-node-germinal-center" }, { "slug": "decreased-circulating-iga-concentration", "name": "Decreased circulating IgA concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/decreased-circulating-iga-concentration" }, { "slug": "decreased-circulating-ige-concentration", "name": "Decreased circulating IgE concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/decreased-circulating-ige-concentration" }, { "slug": "decreased-circulating-igg-concentration", "name": "Decreased circulating IgG concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration" }, { "slug": "immunodeficiency", "name": "Decreased immune function", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/immunodeficiency" }, { "slug": "impaired-ig-class-switch-recombination", "name": "Impaired Ig class switch recombination", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/impaired-ig-class-switch-recombination" }, { "slug": "impaired-memory-b-cell-generation", "name": "Impaired memory B cell generation", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/impaired-memory-b-cell-generation" }, { "slug": "increased-circulating-igm-concentration", "name": "Increased circulating IgM concentration", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-metabolism-homeostasis", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/increased-circulating-igm-concentration" }, { "slug": "decreased-total-neutrophil-count", "name": "Low blood neutrophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/decreased-total-neutrophil-count" }, { "slug": "recurrent-bacterial-infections", "name": "Recurrent bacterial infections", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/recurrent-bacterial-infections" } ], "related": [ { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 3, "url": "https://dantelabs.com/de/genes/aicda" }, { "slug": "cd40lg", "symbol": "CD40LG", "name": "CD40 ligand", "shared": 3, "url": "https://dantelabs.com/de/genes/cd40lg" }, { "slug": "ung", "symbol": "UNG", "name": "uracil DNA glycosylase", "shared": 3, "url": "https://dantelabs.com/de/genes/ung" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 2, "url": "https://dantelabs.com/de/genes/atp6ap1" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 2, "url": "https://dantelabs.com/de/genes/bcl10" }, { "slug": "bcl11b", "symbol": "BCL11B", "name": "BCL11 transcription factor B", "shared": 2, "url": "https://dantelabs.com/de/genes/bcl11b" }, { "slug": "blnk", "symbol": "BLNK", "name": "B cell linker", "shared": 2, "url": "https://dantelabs.com/de/genes/blnk" }, { "slug": "btk", "symbol": "BTK", "name": "Bruton tyrosine kinase", "shared": 2, "url": "https://dantelabs.com/de/genes/btk" }, { "slug": "c1qa", "symbol": "C1QA", "name": "complement C1q A chain", "shared": 2, "url": "https://dantelabs.com/de/genes/c1qa" }, { "slug": "c1qb", "symbol": "C1QB", "name": "complement C1q B chain", "shared": 2, "url": "https://dantelabs.com/de/genes/c1qb" }, { "slug": "c1qc", "symbol": "C1QC", "name": "complement C1q C chain", "shared": 2, "url": "https://dantelabs.com/de/genes/c1qc" }, { "slug": "c1s", "symbol": "C1S", "name": "complement C1s", "shared": 2, "url": "https://dantelabs.com/de/genes/c1s" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }