{ "url": "https://dantelabs.com/no/genes/b2m", "gene": { "slug": "b2m", "symbol": "B2M", "name": "beta-2-microglobulin", "hgnc": "HGNC:914", "summary": null, "location": "15q21.1", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [], "ensemblId": "ENSG00000166710", "entrezId": 567, "omim": [ "109700" ], "uniprot": [ "P61769" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "15", "start": 44711517, "end": 44718145, "strand": "+", "ensemblTranscript": "ENST00000648006.3", "refseqTranscript": "NM_004048.4", "ensemblProtein": "ENSP00000497910.1", "refseqProtein": "NP_004039.1", "exons": [ { "start": 44711517, "end": 44711613 }, { "start": 44715423, "end": 44715701 }, { "start": 44716329, "end": 44716356 }, { "start": 44717607, "end": 44718145 } ], "cds": { "start": 44711547, "end": 44716342 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "15", "start": 45003675, "end": 45011075, "strand": "+" }, "neighbourhood": { "release": "116", "start": 44214831, "end": 45214830, "genes": [ { "symbol": "GOLM2", "ensemblId": "ENSG00000166734", "biotype": "protein_coding", "start": 44288699, "end": 44415758, "strand": "+", "slug": "golm2" }, { "symbol": "CTDSPL2", "ensemblId": "ENSG00000137770", "biotype": "protein_coding", "start": 44427187, "end": 44529038, "strand": "+", "slug": "ctdspl2" }, { "symbol": "EIF3J", "ensemblId": "ENSG00000104131", "biotype": "protein_coding", "start": 44537055, "end": 44564631, "strand": "+", "slug": "eif3j" }, { "symbol": "SPG11", "ensemblId": "ENSG00000104133", "biotype": "protein_coding", "start": 44554436, "end": 44663688, "strand": "-", "slug": "spg11" }, { "symbol": "PATL2", "ensemblId": "ENSG00000229474", "biotype": "protein_coding", "start": 44665723, "end": 44711384, "strand": "-", "slug": "patl2" }, { "symbol": "TRIM69", "ensemblId": "ENSG00000185880", "biotype": "protein_coding", "start": 44728986, "end": 44767829, "strand": "+", "slug": "trim69" }, { "symbol": "TERB2", "ensemblId": "ENSG00000167014", "biotype": "protein_coding", "start": 44956687, "end": 44979229, "strand": "+", "slug": "terb2" }, { "symbol": "SORD", "ensemblId": "ENSG00000140263", "biotype": "protein_coding", "start": 45023116, "end": 45077185, "strand": "+", "slug": "sord" }, { "symbol": "DUOX2", "ensemblId": "ENSG00000140279", "biotype": "protein_coding", "start": 45092650, "end": 45114185, "strand": "-", "slug": "duox2" }, { "symbol": "DUOXA2", "ensemblId": "ENSG00000140274", "biotype": "protein_coding", "start": 45114325, "end": 45118421, "strand": "+", "slug": "duoxa2" }, { "symbol": "DUOXA1", "ensemblId": "ENSG00000140254", "biotype": "protein_coding", "start": 45117364, "end": 45130611, "strand": "-", "slug": "duoxa1" }, { "symbol": "DUOX1", "ensemblId": "ENSG00000137857", "biotype": "protein_coding", "start": 45129450, "end": 45165576, "strand": "+", "slug": "duox1" }, { "symbol": "SHF", "ensemblId": "ENSG00000138606", "biotype": "protein_coding", "start": 45165572, "end": 45201175, "strand": "-", "slug": "shf" } ], "truncated": false }, "reports": [ { "slug": "hereditary-amyloidosis-145", "name": "Hereditær amyloidose", "diseases": [ { "mondoId": "MONDO:0018634", "name": "Hereditær amyloidose", "genes": 12, "inheritance": "autosomal-dominant", "description": "Hereditær amyloidose er en gruppe arvelige tilstander som utgjør en av undertypene av amyloidose. Hereditær amyloidose kjennetegnes av avleiring av et unormalt protein kalt amyloid i flere organer i kroppen, der det ikke skal være, og dette fører til forstyrrelser i vevsstrukturen og organfunksjonen. Ved hereditær amyloidose forekommer amyloidavleiringene oftest i vev i hjertet, nyrene og nervesystemet. Selv om symptomer på hereditær amyloidose kan vise seg i barndommen, har de fleste ikke symptomer før i voksen alder.\n\nDet finnes mange typer hereditær amyloidose, knyttet til ulike genmutasjoner og unormale proteiner. Den vanligste typen er transthyretin-amyloidose (ATTR), en tilstand der amyloidavleiringene oftest består av proteinet transthyretin, som dannes i leveren. Andre eksempler på hereditær amyloidose omfatter, men er ikke begrenset til, apolipoprotein AI-amyloidose (A ApoAI), gelsolin-amyloidose (A Gel), lysozym-amyloidose (A Lys), cystatin C-amyloidose (A Cys), fibrinogen Aα-kjede-amyloidose (A Fib) og apolipoprotein AII-amyloidose (A ApoAII).", "management": "Tafamidis (kinetisk stabilisator), patisiran (RNAi), vutrisiran (RNAi), inotersen (antisens), levertransplantasjon", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/no/conditions/hereditary-amyloidosis-145" }, { "slug": "immunodeficiency-disease", "name": "Andre medfødte immunsviktsykdommer", "diseases": [ { "mondoId": "MONDO:0021094", "name": "Immunsviktsykdom", "genes": 170, "inheritance": null, "description": "Sykdom der det finnes en mangel eller defekt i immunforsvarsmekanismene, enten cellulære eller humorale.", "management": "HSCT ved SCID og alvorlige PID; immunglobulinerstatning (IVIG/SCIG) ved antistoffmangel; leniolisib (Joenja, FDA 2023) ved APDS; genterapi ved ADA-SCID; abatacept ved CTLA4- og LRBA-mangel; profylaktiske antibiotika; G-CSF ved CGD", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/no/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-autonomic-nervous-system-physiology", "name": "Abnormal autonomic nervous system physiology", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-autonomic-nervous-system-physiology" }, { "slug": "abnormal-vascular-morphology", "name": "Abnormal vascular morphology", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-vascular-morphology" }, { "slug": "abnormal-salivary-gland-morphology", "name": "Abnormality of the salivary glands", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-salivary-gland-morphology" }, { "slug": "abnormality-of-the-tongue", "name": "Abnormality of the tongue", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormality-of-the-tongue" }, { "slug": "abnormal-skeletal-muscle-morphology", "name": "Abnormally shaped muscle", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-skeletal-muscle-morphology" }, { "slug": "amyloidosis-of-peripheral-nerves", "name": "Amyloidosis of peripheral nerves", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/amyloidosis-of-peripheral-nerves" }, { "slug": "radial-bowing", "name": "Bowing of outer large bone of the forearm", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/radial-bowing" }, { "slug": "cardiac-amyloidosis", "name": "Cardiac amyloidosis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-cardiovascular-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/cardiac-amyloidosis" }, { "slug": "cardiovascular-calcification", "name": "Cardiovascular calcification", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cardiovascular-calcification" }, { "slug": "chronic-constipation", "name": "Chronic constipation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chronic-constipation" }, { "slug": "chronic-diarrhea", "name": "Chronic diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/chronic-diarrhea" }, { "slug": "chronic-kidney-disease", "name": "Chronic kidney disease", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chronic-kidney-disease" }, { "slug": "constrictive-median-neuropathy", "name": "Constrictive median neuropathy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/constrictive-median-neuropathy" }, { "slug": "cutaneous-amyloidosis", "name": "Cutaneous amyloidosis", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cutaneous-amyloidosis" }, { "slug": "gastrointestinal-infarctions", "name": "Death of digestive organ tissue due to poor blood supply", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastrointestinal-infarctions" }, { "slug": "orthostatic-hypotension", "name": "Decrease in blood pressure upon standing up", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/orthostatic-hypotension" }, { "slug": "decreased-circulating-beta-2-microglobulin-concentration", "name": "Decreased circulating beta-2-microglobulin concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-beta-2-microglobulin-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" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-igg-concentration" }, { "slug": "hypoproteinemia", "name": "Decreased protein levels in blood", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoproteinemia" }, { "slug": "decreased-specific-antibody-response-to-unconjugated-polysaccharide-vaccine", "name": "Decreased specific antibody response to unconjugated polysaccharide vaccine", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-specific-antibody-response-to-unconjugated-polysaccharide-vaccine" }, { "slug": "subcutaneous-nodule", "name": "Firm lump under the skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/subcutaneous-nodule" }, { "slug": "hepatic-amyloidosis", "name": "Hepatic amyloidosis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatic-amyloidosis" }, { "slug": "arthralgia-of-the-hip", "name": "Hip joint pain", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/arthralgia-of-the-hip" }, { "slug": "intestinal-perforation", "name": "Intestinal perforation", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intestinal-perforation" }, { "slug": "knee-pain", "name": "Knee pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/knee-pain" }, { "slug": "hypoalbuminemia", "name": "Low albumin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoalbuminemia" }, { "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": "frequent", "url": "https://dantelabs.com/traits/decreased-total-b-cell-count" }, { "slug": "lung-abscess", "name": "Lung abscess", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lung-abscess" }, { "slug": "multiple-bony-cystic-lesions", "name": "Multiple bony cystic lesions", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/multiple-bony-cystic-lesions" }, { "slug": "sensorimotor-neuropathy", "name": "Nerve damage causing decreased feeling and movement", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sensorimotor-neuropathy" }, { "slug": "organizing-pneumonia", "name": "Organizing pneumonia", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/organizing-pneumonia" }, { "slug": "polyneuropathy", "name": "Peripheral nerve disease", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/polyneuropathy" }, { "slug": "bronchiectasis", "name": "Permanent enlargement of the airways of the lungs", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/bronchiectasis" }, { "slug": "spinal-cord-compression", "name": "Pressure on spinal cord", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/spinal-cord-compression" }, { "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": "reduced-left-ventricular-ejection-fraction", "name": "Reduced left ventricular ejection fraction", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/reduced-left-ventricular-ejection-fraction" }, { "slug": "reduced-total-natural-killer-cell-count", "name": "Reduced total natural killer cell count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/reduced-total-natural-killer-cell-count" }, { "slug": "renal-amyloidosis", "name": "Renal amyloidosis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/renal-amyloidosis" }, { "slug": "shoulder-pain", "name": "Shoulder pain", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/shoulder-pain" }, { "slug": "pathologic-fracture", "name": "Spontaneous fracture", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pathologic-fracture" }, { "slug": "hypoplasia-of-the-ulna", "name": "Underdeveloped inner large forearm bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/hypoplasia-of-the-ulna" }, { "slug": "weight-loss", "name": "Weight loss", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/weight-loss" }, { "slug": "wrist-pain", "name": "Wrist pain", "systems": [ "abnormality-of-the-musculoskeletal-system", "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/wrist-pain" } ], "related": [ { "slug": "ada", "symbol": "ADA", "name": "adenosine deaminase", "shared": 1, "url": "https://dantelabs.com/no/genes/ada" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 1, "url": "https://dantelabs.com/no/genes/aicda" }, { "slug": "ak2", "symbol": "AK2", "name": "adenylate kinase 2", "shared": 1, "url": "https://dantelabs.com/no/genes/ak2" }, { "slug": "apoa1", "symbol": "APOA1", "name": "apolipoprotein A1", "shared": 1, "url": "https://dantelabs.com/no/genes/apoa1" }, { "slug": "apoa4", "symbol": "APOA4", "name": "apolipoprotein A4", "shared": 1, "url": "https://dantelabs.com/no/genes/apoa4" }, { "slug": "app", "symbol": "APP", "name": "amyloid beta precursor protein", "shared": 1, "url": "https://dantelabs.com/no/genes/app" }, { "slug": "arpc1b", "symbol": "ARPC1B", "name": "actin related protein 2/3 complex subunit 1B", "shared": 1, "url": "https://dantelabs.com/no/genes/arpc1b" }, { "slug": "arpc5", "symbol": "ARPC5", "name": "actin related protein 2/3 complex subunit 5", "shared": 1, "url": "https://dantelabs.com/no/genes/arpc5" }, { "slug": "atm", "symbol": "ATM", "name": "ATM serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/no/genes/atm" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 1, "url": "https://dantelabs.com/no/genes/atp6ap1" }, { "slug": "bach2", "symbol": "BACH2", "name": "BACH transcriptional regulator 2", "shared": 1, "url": "https://dantelabs.com/no/genes/bach2" }, { "slug": "bcl10", "symbol": "BCL10", "name": "BCL10 immune signaling adaptor", "shared": 1, "url": "https://dantelabs.com/no/genes/bcl10" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }