{ "url": "https://dantelabs.com/pt/genes/psmb10", "gene": { "slug": "psmb10", "symbol": "PSMB10", "name": "proteasome 20S subunit beta 10", "hgnc": "HGNC:9538", "summary": null, "location": "16q22.1", "locusType": "gene with protein product", "aliases": [ "LMP10", "MGC1665", "beta2i" ], "previousSymbols": [ "MECL1" ], "ensemblId": "ENSG00000205220", "entrezId": 5699, "omim": [ "176847" ], "uniprot": [ "P40306" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "16", "start": 67934506, "end": 67936850, "strand": "-", "ensemblTranscript": "ENST00000358514.9", "refseqTranscript": "NM_002801.4", "ensemblProtein": "ENSP00000351314.4", "refseqProtein": "NP_002792.1", "exons": [ { "start": 67934506, "end": 67934671 }, { "start": 67934797, "end": 67934948 }, { "start": 67935420, "end": 67935478 }, { "start": 67935582, "end": 67935697 }, { "start": 67935963, "end": 67936103 }, { "start": 67936215, "end": 67936312 }, { "start": 67936398, "end": 67936485 }, { "start": 67936694, "end": 67936850 } ], "cds": { "start": 67934560, "end": 67936749 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "16", "start": 67968405, "end": 67970990, "strand": "-" }, "neighbourhood": { "release": "116", "start": 67435678, "end": 68435677, "genes": [ { "symbol": "HSD11B2", "ensemblId": "ENSG00000176387", "biotype": "protein_coding", "start": 67430652, "end": 67437553, "strand": "+", "slug": "hsd11b2" }, { "symbol": "ATP6V0D1", "ensemblId": "ENSG00000159720", "biotype": "protein_coding", "start": 67437523, "end": 67481227, "strand": "-", "slug": "atp6v0d1" }, { "symbol": "AGRP", "ensemblId": "ENSG00000159723", "biotype": "protein_coding", "start": 67482571, "end": 67483552, "strand": "-", "slug": "agrp" }, { "symbol": "RIPOR1", "ensemblId": "ENSG00000039523", "biotype": "protein_coding", "start": 67518418, "end": 67546788, "strand": "+", "slug": "ripor1" }, { "symbol": "CTCF", "ensemblId": "ENSG00000102974", "biotype": "protein_coding", "start": 67561831, "end": 67639189, "strand": "+", "slug": "ctcf" }, { "symbol": "CARMIL2", "ensemblId": "ENSG00000159753", "biotype": "protein_coding", "start": 67644988, "end": 67657569, "strand": "+", "slug": "carmil2" }, { "symbol": "ACD", "ensemblId": "ENSG00000102977", "biotype": "protein_coding", "start": 67657512, "end": 67660810, "strand": "-", "slug": "acd" }, { "symbol": "PARD6A", "ensemblId": "ENSG00000102981", "biotype": "protein_coding", "start": 67660350, "end": 67664266, "strand": "+", "slug": "pard6a" }, { "symbol": "ENKD1", "ensemblId": "ENSG00000124074", "biotype": "protein_coding", "start": 67662945, "end": 67667954, "strand": "-", "slug": "enkd1" }, { "symbol": "C16orf86", "ensemblId": "ENSG00000159761", "biotype": "protein_coding", "start": 67666802, "end": 67668757, "strand": "+", "slug": "c16orf86" }, { "symbol": "GFOD2", "ensemblId": "ENSG00000141098", "biotype": "protein_coding", "start": 67674527, "end": 67719352, "strand": "-", "slug": "gfod2" }, { "symbol": "RANBP10", "ensemblId": "ENSG00000141084", "biotype": "protein_coding", "start": 67723070, "end": 67806563, "strand": "-", "slug": "ranbp10" }, { "symbol": "TSNAXIP1", "ensemblId": "ENSG00000102904", "biotype": "protein_coding", "start": 67806765, "end": 67832148, "strand": "+", "slug": "tsnaxip1" }, { "symbol": "CENPT", "ensemblId": "ENSG00000102901", "biotype": "protein_coding", "start": 67828157, "end": 67847811, "strand": "-", "slug": "cenpt" }, { "symbol": "THAP11", "ensemblId": "ENSG00000168286", "biotype": "protein_coding", "start": 67842320, "end": 67844195, "strand": "+", "slug": "thap11" }, { "symbol": "NUTF2", "ensemblId": "ENSG00000102898", "biotype": "protein_coding", "start": 67844369, "end": 67872569, "strand": "+", "slug": "nutf2" }, { "symbol": "EDC4", "ensemblId": "ENSG00000038358", "biotype": "protein_coding", "start": 67873049, "end": 67884520, "strand": "+", "slug": "edc4" }, { "symbol": "NRN1L", "ensemblId": "ENSG00000188038", "biotype": "protein_coding", "start": 67884868, "end": 67888855, "strand": "+", "slug": "nrn1l" }, { "symbol": "PSKH1", "ensemblId": "ENSG00000159792", "biotype": "protein_coding", "start": 67893244, "end": 67929676, "strand": "+", "slug": "pskh1" }, { "symbol": "CTRL", "ensemblId": "ENSG00000141086", "biotype": "protein_coding", "start": 67927640, "end": 67932365, "strand": "-", "slug": "ctrl" }, { "symbol": "", "ensemblId": "ENSG00000261884", "biotype": "protein_coding", "start": 67929614, "end": 67936017, "strand": "-" }, { "symbol": "LCAT", "ensemblId": "ENSG00000213398", "biotype": "protein_coding", "start": 67939150, "end": 67944681, "strand": "-", "slug": "lcat" }, { "symbol": "SLC12A4", "ensemblId": "ENSG00000124067", "biotype": "protein_coding", "start": 67943474, "end": 67969601, "strand": "-", "slug": "slc12a4" }, { "symbol": "DPEP3", "ensemblId": "ENSG00000141096", "biotype": "protein_coding", "start": 67975661, "end": 67980554, "strand": "-", "slug": "dpep3" }, { "symbol": "DPEP2", "ensemblId": "ENSG00000167261", "biotype": "protein_coding", "start": 67987392, "end": 68000624, "strand": "-", "slug": "dpep2" }, { "symbol": "DUS2", "ensemblId": "ENSG00000167264", "biotype": "protein_coding", "start": 67987746, "end": 68079344, "strand": "+", "slug": "dus2" }, { "symbol": "DPEP2NB", "ensemblId": "ENSG00000263201", "biotype": "protein_coding", "start": 68013436, "end": 68015911, "strand": "-", "slug": "dpep2nb" }, { "symbol": "DDX28", "ensemblId": "ENSG00000182810", "biotype": "protein_coding", "start": 68020916, "end": 68023232, "strand": "-", "slug": "ddx28" }, { "symbol": "NFATC3", "ensemblId": "ENSG00000072736", "biotype": "protein_coding", "start": 68084751, "end": 68229259, "strand": "+", "slug": "nfatc3" }, { "symbol": "ESRP2", "ensemblId": "ENSG00000103067", "biotype": "protein_coding", "start": 68225974, "end": 68238102, "strand": "-", "slug": "esrp2" }, { "symbol": "PLA2G15", "ensemblId": "ENSG00000103066", "biotype": "protein_coding", "start": 68245304, "end": 68261063, "strand": "+", "slug": "pla2g15" }, { "symbol": "SLC7A6", "ensemblId": "ENSG00000103064", "biotype": "protein_coding", "start": 68264173, "end": 68301853, "strand": "+", "slug": "slc7a6" }, { "symbol": "SLC7A6OS", "ensemblId": "ENSG00000103061", "biotype": "protein_coding", "start": 68284498, "end": 68310968, "strand": "-", "slug": "slc7a6os" }, { "symbol": "PRMT7", "ensemblId": "ENSG00000132600", "biotype": "protein_coding", "start": 68310916, "end": 68360852, "strand": "+", "slug": "prmt7" }, { "symbol": "SMPD3", "ensemblId": "ENSG00000103056", "biotype": "protein_coding", "start": 68358327, "end": 68448550, "strand": "-", "slug": "smpd3" } ], "truncated": false }, "reports": [ { "slug": "rare-monogenic-autoinflammatory-diseases", "name": "Doenças autoinflamatórias monogénicas raras", "diseases": [ { "mondoId": "MONDO:0957018", "name": "Autoinflamação e autoimunidade relacionadas com PTPN2", "genes": 22, "inheritance": "autosomal-dominant", "description": "Doença inflamatória e autoimune de início precoce, incluindo colite e artrite, causada por variantes em PTPN2.", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/rare-monogenic-autoinflammatory-diseases" }, { "slug": "type-1-interferonopathies", "name": "Interferonopatias do Tipo I", "diseases": [ { "mondoId": "MONDO:0009726", "name": "Síndromes autoinflamatórias associadas ao proteassoma (CANDLE/PRAAS)", "genes": 4, "inheritance": "autosomal-recessive", "description": "Febres recorrentes, lesões cutâneas, perda de tecido adiposo e problemas articulares causados por defeitos no proteassoma (PSMB8, PSMB9, PSMB10, POMP e outros).", "management": null, "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/pt/conditions/type-1-interferonopathies" }, { "slug": "immunodeficiency-disease", "name": "Outros Erros Inatos da Imunidade", "diseases": [ { "mondoId": "MONDO:0021094", "name": "Doença de Imunodeficiência", "genes": 170, "inheritance": null, "description": "Doença em que existe uma deficiência ou defeito nos mecanismos da imunidade, quer celular quer humoral.", "management": "Transplante de células-tronco hematopoiéticas (HSCT) para SCID e PID graves; substituição de imunoglobulinas (IVIG/SCIG) para deficiências de anticorpos; leniolisib (Joenja, FDA 2023) para APDS; terapia génica para SCID-ADA; abatacept para deficiência de CTLA4/LRBA; antibióticos profiláticos; G-CSF para CGD", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/pt/conditions/immunodeficiency-disease" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-lymphocyte-morphology", "name": "Abnormal lymphocyte morphology", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-lymphocyte-morphology" }, { "slug": "abnormal-metaphysis-morphology", "name": "Abnormality of the wide portion of a long bone", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-metaphysis-morphology" }, { "slug": "autoimmunity", "name": "Autoimmunity", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autoimmunity" }, { "slug": "lymphoma", "name": "Cancer of lymphatic system", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/lymphoma" }, { "slug": "chronic-diarrhea", "name": "Chronic diarrhea", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/chronic-diarrhea" }, { "slug": "desquamation-of-skin-soon-after-birth", "name": "Desquamation of skin soon after birth", "systems": [ "abnormality-of-prenatal-development-or-birth", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/desquamation-of-skin-soon-after-birth" }, { "slug": "dry-skin", "name": "Dry skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dry-skin" }, { "slug": "increased-total-leukocyte-count", "name": "Elevated white blood count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-total-leukocyte-count" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "failure-to-thrive", "name": "Faltering weight", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/failure-to-thrive" }, { "slug": "fever", "name": "Fever", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fever" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/edema" }, { "slug": "alopecia", "name": "Hair loss", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/alopecia" }, { "slug": "increased-total-eosinophil-count", "name": "High blood eosinophil count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-total-eosinophil-count" }, { "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": "sepsis", "name": "Infection in blood stream", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/sepsis" }, { "slug": "pruritus", "name": "Itching", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pruritus" }, { "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": "nephrotic-syndrome", "name": "Nephrotic syndrome", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/nephrotic-syndrome" }, { "slug": "pneumonia", "name": "Pneumonia", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pneumonia" }, { "slug": "erythroderma", "name": "Red scaly skin caused by inflammatory skin disease", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/erythroderma" }, { "slug": "severe-combined-immunodeficiency", "name": "Severe combined immunodeficiency", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severe-combined-immunodeficiency" }, { "slug": "short-toe", "name": "Short toe", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/short-toe" }, { "slug": "aplasia-hypoplasia-of-the-eyebrow", "name": "Sparse or absent eyebrows", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-eyebrow" }, { "slug": "lymphadenopathy", "name": "Swollen lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/lymphadenopathy" }, { "slug": "thickened-skin", "name": "Thickened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/thickened-skin" }, { "slug": "thyroiditis", "name": "Thyroid gland inflammation", "systems": [ "abnormality-of-the-endocrine-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/thyroiditis" }, { "slug": "hypothyroidism", "name": "Underactive thyroid", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypothyroidism" } ], "related": [ { "slug": "pomp", "symbol": "POMP", "name": "proteasome maturation protein", "shared": 2, "url": "https://dantelabs.com/pt/genes/pomp" }, { "slug": "psmb8", "symbol": "PSMB8", "name": "proteasome 20S subunit beta 8", "shared": 2, "url": "https://dantelabs.com/pt/genes/psmb8" }, { "slug": "psmb9", "symbol": "PSMB9", "name": "proteasome 20S subunit beta 9", "shared": 2, "url": "https://dantelabs.com/pt/genes/psmb9" }, { "slug": "acp5", "symbol": "ACP5", "name": "acid phosphatase 5, tartrate resistant", "shared": 1, "url": "https://dantelabs.com/pt/genes/acp5" }, { "slug": "ada", "symbol": "ADA", "name": "adenosine deaminase", "shared": 1, "url": "https://dantelabs.com/pt/genes/ada" }, { "slug": "ada2", "symbol": "ADA2", "name": "adenosine deaminase 2", "shared": 1, "url": "https://dantelabs.com/pt/genes/ada2" }, { "slug": "adar", "symbol": "ADAR", "name": "adenosine deaminase RNA specific", "shared": 1, "url": "https://dantelabs.com/pt/genes/adar" }, { "slug": "aicda", "symbol": "AICDA", "name": "activation induced cytidine deaminase", "shared": 1, "url": "https://dantelabs.com/pt/genes/aicda" }, { "slug": "ak2", "symbol": "AK2", "name": "adenylate kinase 2", "shared": 1, "url": "https://dantelabs.com/pt/genes/ak2" }, { "slug": "arpc1b", "symbol": "ARPC1B", "name": "actin related protein 2/3 complex subunit 1B", "shared": 1, "url": "https://dantelabs.com/pt/genes/arpc1b" }, { "slug": "arpc5", "symbol": "ARPC5", "name": "actin related protein 2/3 complex subunit 5", "shared": 1, "url": "https://dantelabs.com/pt/genes/arpc5" }, { "slug": "atm", "symbol": "ATM", "name": "ATM serine/threonine kinase", "shared": 1, "url": "https://dantelabs.com/pt/genes/atm" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }