{ "url": "https://dantelabs.com/ro/genes/itga2b", "gene": { "slug": "itga2b", "symbol": "ITGA2B", "name": "integrin subunit alpha 2b", "hgnc": "HGNC:6138", "summary": null, "location": "17q21.31", "locusType": "gene with protein product", "aliases": [ "CD41B", "CD41", "PPP1R93", "GPIIb" ], "previousSymbols": [ "GP2B" ], "ensemblId": "ENSG00000005961", "entrezId": 3674, "omim": [ "607759" ], "uniprot": [ "P08514" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "17", "start": 44372181, "end": 44389649, "strand": "-", "ensemblTranscript": "ENST00000262407.6", "refseqTranscript": "NM_000419.5", "ensemblProtein": "ENSP00000262407.5", "refseqProtein": "NP_000410.2", "exons": [ { "start": 44372181, "end": 44372423 }, { "start": 44374354, "end": 44374470 }, { "start": 44374659, "end": 44374760 }, { "start": 44374998, "end": 44375111 }, { "start": 44375591, "end": 44375716 }, { "start": 44375833, "end": 44375985 }, { "start": 44376085, "end": 44376184 }, { "start": 44376308, "end": 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"17", "start": 42449548, "end": 42466873, "strand": "-" }, "neighbourhood": { "release": "116", "start": 43880915, "end": 44880914, "genes": [ { "symbol": "MPP2", "ensemblId": "ENSG00000108852", "biotype": "protein_coding", "start": 43875352, "end": 43909711, "strand": "-", "slug": "mpp2" }, { "symbol": "PPY", "ensemblId": "ENSG00000108849", "biotype": "protein_coding", "start": 43940804, "end": 43952444, "strand": "-", "slug": "ppy" }, { "symbol": "PYY", "ensemblId": "ENSG00000131096", "biotype": "protein_coding", "start": 43952733, "end": 44004469, "strand": "-", "slug": "pyy" }, { "symbol": "NAGS", "ensemblId": "ENSG00000161653", "biotype": "protein_coding", "start": 44004581, "end": 44011213, "strand": "+", "slug": "nags" }, { "symbol": "TMEM101", "ensemblId": "ENSG00000091947", "biotype": "protein_coding", "start": 44008986, "end": 44023946, "strand": "-", "slug": "tmem101" }, { "symbol": "LSM12", "ensemblId": "ENSG00000161654", "biotype": "protein_coding", "start": 44033931, "end": 44067619, "strand": "-", "slug": "lsm12" }, { "symbol": "G6PC3", "ensemblId": "ENSG00000141349", "biotype": "protein_coding", "start": 44070620, "end": 44094678, "strand": "+", "slug": "g6pc3" }, { "symbol": "HDAC5", "ensemblId": "ENSG00000108840", "biotype": "protein_coding", "start": 44076746, "end": 44123702, "strand": "-", "slug": "hdac5" }, { "symbol": "HROB", "ensemblId": "ENSG00000125319", "biotype": "protein_coding", "start": 44141903, "end": 44162481, "strand": "+", "slug": "hrob" }, { "symbol": "ASB16", "ensemblId": "ENSG00000161664", "biotype": "protein_coding", "start": 44170447, "end": 44179373, "strand": "+", "slug": "asb16" }, { "symbol": "TMUB2", "ensemblId": "ENSG00000168591", "biotype": "protein_coding", "start": 44186955, "end": 44191931, "strand": "+", "slug": "tmub2" }, { "symbol": "ATXN7L3", "ensemblId": "ENSG00000087152", "biotype": "protein_coding", "start": 44191804, "end": 44200961, "strand": "-", "slug": "atxn7l3" }, { "symbol": "UBTF", "ensemblId": "ENSG00000108312", "biotype": "protein_coding", "start": 44205033, "end": 44221626, "strand": "-", "slug": "ubtf" }, { "symbol": "SLC4A1", "ensemblId": "ENSG00000004939", "biotype": "protein_coding", "start": 44248390, "end": 44268162, "strand": "-", "slug": "slc4a1" }, { "symbol": "RUNDC3A", "ensemblId": "ENSG00000108309", "biotype": "protein_coding", "start": 44307945, "end": 44318675, "strand": "+", "slug": "rundc3a" }, { "symbol": "SLC25A39", "ensemblId": "ENSG00000013306", "biotype": "protein_coding", "start": 44316821, "end": 44326639, "strand": "-", "slug": "slc25a39" }, { "symbol": "GRN", "ensemblId": "ENSG00000030582", "biotype": "protein_coding", "start": 44345108, "end": 44353106, "strand": "+", "slug": "grn" }, { "symbol": "FAM171A2", "ensemblId": "ENSG00000161682", "biotype": "protein_coding", "start": 44353215, "end": 44363875, "strand": "-", "slug": "fam171a2" }, { "symbol": "GPATCH8", "ensemblId": "ENSG00000186566", "biotype": "protein_coding", "start": 44395281, "end": 44503639, "strand": "-", "slug": "gpatch8" }, { "symbol": "FZD2", "ensemblId": "ENSG00000180340", "biotype": "protein_coding", "start": 44557484, "end": 44561262, "strand": "+", "slug": "fzd2" }, { "symbol": "MEIOC", "ensemblId": "ENSG00000180336", "biotype": "protein_coding", "start": 44656363, "end": 44690308, "strand": "+", "slug": "meioc" }, { "symbol": "CCDC43", "ensemblId": "ENSG00000180329", "biotype": "protein_coding", "start": 44671063, "end": 44689831, "strand": "-", "slug": "ccdc43" }, { "symbol": "DBF4B", "ensemblId": "ENSG00000161692", "biotype": "protein_coding", "start": 44708595, "end": 44752269, "strand": "+", "slug": "dbf4b" }, { "symbol": "ADAM11", "ensemblId": "ENSG00000073670", "biotype": "protein_coding", "start": 44758962, "end": 44781846, "strand": "+", "slug": "adam11" }, { "symbol": "GJC1", "ensemblId": "ENSG00000182963", "biotype": "protein_coding", "start": 44798448, "end": 44831496, "strand": "-", "slug": "gjc1" }, { "symbol": "HIGD1B", "ensemblId": "ENSG00000131097", "biotype": "protein_coding", "start": 44844763, "end": 44850480, "strand": "+", "slug": "higd1b" }, { "symbol": "EFTUD2", "ensemblId": "ENSG00000108883", "biotype": "protein_coding", "start": 44849948, "end": 44899629, "strand": "-", "slug": "eftud2" } ], "truncated": false }, "reports": [ { "slug": "inherited-platelet-function-disorders", "name": "Tulburări ereditare ale funcției trombocitelor", "diseases": [ { "mondoId": "MONDO:0100326", "name": "Trombastenia Glanzmann", "genes": 2, "inheritance": "autosomal-recessive", "description": "O tulburare recesivă cauzată de modificări ale genelor ITGA2B sau ITGB3, în care trombocitele nu se pot agrega, ceea ce provoacă sângerări pe tot parcursul vieții din piele, nas, gingii și, la femei, menstruații abundente.", "management": "Cunoașterea acestei afecțiuni ajută la evitarea medicamentelor antiagregante plachetare, ghidează alegerea transfuziei de trombocite sau a factorului VIIa recombinant și impune planificarea sarcinii, deoarece anticorpii îndreptați împotriva trombocitelor pot afecta bebelușul.", "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-recessive" ], "actionability": 9 }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/inherited-platelet-function-disorders" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "metrorrhagia", "name": "Abnormal uterus bleeding", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/metrorrhagia" }, { "slug": "abnormality-of-the-nervous-system", "name": "Abnormality of the nervous system", "systems": [], "frequency": "very-rare", "url": "https://dantelabs.com/traits/abnormality-of-the-nervous-system" }, { "slug": "menorrhagia", "name": "Abnormally heavy bleeding during menstruation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/menorrhagia" }, { "slug": "bilateral-sensorineural-hearing-impairment", "name": "Bilateral sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/bilateral-sensorineural-hearing-impairment" }, { "slug": "melena", "name": "Black feces", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/melena" }, { "slug": "gingival-bleeding", "name": "Bleeding gums", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/gingival-bleeding" }, { "slug": "abnormal-bleeding", "name": "Bleeding tendency", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-bleeding" }, { "slug": "intracranial-hemorrhage", "name": "Bleeding within the skull", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intracranial-hemorrhage" }, { "slug": "blindness", "name": "Blindness", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/blindness" }, { "slug": "hematuria", "name": "Blood in urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hematuria" }, { "slug": "purpura", "name": "Blood spots", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/purpura" }, { "slug": "epistaxis", "name": "Bloody nose", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/epistaxis" }, { "slug": "macroscopic-hematuria", "name": "Bloody urine", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/macroscopic-hematuria" }, { "slug": "bruising-susceptibility", "name": "Bruising susceptibility", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bruising-susceptibility" }, { "slug": "cephalohematoma", "name": "Cephalohematoma", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cephalohematoma" }, { "slug": "cerebral-palsy", "name": "Cerebral palsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/cerebral-palsy" }, { "slug": "decreased-platelet-glycoprotein-iib-iiia", "name": "Decreased platelet glycoprotein IIb-IIIa", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-platelet-glycoprotein-iib-iiia" }, { "slug": "ecchymosis", "name": "Ecchymosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ecchymosis" }, { "slug": "excessive-bleeding-from-superficial-cuts", "name": "Excessive bleeding from superficial cuts", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/excessive-bleeding-from-superficial-cuts" }, { "slug": "gastrointestinal-hemorrhage", "name": "Gastrointestinal bleeding", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gastrointestinal-hemorrhage" }, { "slug": "giant-platelets", "name": "Giant platelets", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/giant-platelets" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "impaired-adp-induced-platelet-aggregation", "name": "Impaired ADP-induced platelet aggregation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/impaired-adp-induced-platelet-aggregation" }, { "slug": "impaired-arachidonic-acid-induced-platelet-aggregation", "name": "Impaired arachidonic acid-induced platelet aggregation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/impaired-arachidonic-acid-induced-platelet-aggregation" }, { "slug": "impaired-clot-retraction", "name": "Impaired clot retraction", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/impaired-clot-retraction" }, { "slug": "impaired-collagen-induced-platelet-aggregation", "name": "Impaired collagen-induced platelet aggregation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/impaired-collagen-induced-platelet-aggregation" }, { "slug": "impaired-collagen-related-peptide-induced-platelet-aggregation", "name": "Impaired collagen-related peptide-induced platelet aggregation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/impaired-collagen-related-peptide-induced-platelet-aggregation" }, { "slug": "impaired-epinephrine-induced-platelet-aggregation", "name": "Impaired epinephrine-induced platelet aggregation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/impaired-epinephrine-induced-platelet-aggregation" }, { "slug": "impaired-platelet-aggregation", "name": "Impaired platelet aggregation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/impaired-platelet-aggregation" }, { "slug": "impaired-ristocetin-induced-platelet-aggregation", "name": "Impaired ristocetin-induced platelet aggregation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/impaired-ristocetin-induced-platelet-aggregation" }, { "slug": "impaired-thrombin-induced-platelet-aggregation", "name": "Impaired thrombin-induced platelet aggregation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/impaired-thrombin-induced-platelet-aggregation" }, { "slug": "impaired-thromboxane-a2-agonist-induced-platelet-aggregation", "name": "Impaired thromboxane A2 agonist-induced platelet aggregation", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/impaired-thromboxane-a2-agonist-induced-platelet-aggregation" }, { "slug": "increased-mean-platelet-volume", "name": "Large platelets", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-mean-platelet-volume" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "url": "https://dantelabs.com/traits/anemia" }, { "slug": "thrombocytopenia", "name": "Low platelet count", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/thrombocytopenia" }, { "slug": "macrothrombocytopenia", "name": "Macrothrombocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/macrothrombocytopenia" }, { "slug": "menometrorrhagia", "name": "Menometrorrhagia", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/menometrorrhagia" }, { "slug": "neonatal-alloimmune-thrombocytopenia", "name": "Neonatal alloimmune thrombocytopenia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/neonatal-alloimmune-thrombocytopenia" }, { "slug": "petechiae", "name": "Petechiae", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/petechiae" }, { "slug": "platelet-anisocytosis", "name": "Platelet anisocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/platelet-anisocytosis" }, { "slug": "prolonged-bleeding-after-dental-extraction", "name": "Prolonged bleeding after dental extraction", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-bleeding-after-dental-extraction" }, { "slug": "prolonged-bleeding-after-surgery", "name": "Prolonged bleeding after surgery", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prolonged-bleeding-after-surgery" }, { "slug": "prolonged-bleeding-following-circumcision", "name": "Prolonged bleeding following circumcision", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/prolonged-bleeding-following-circumcision" }, { "slug": "prolonged-bleeding-time", "name": "Prolonged bleeding time", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/prolonged-bleeding-time" }, { "slug": "spontaneous-recurrent-epistaxis", "name": "Recurring nosebleed", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-head-or-neck" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/spontaneous-recurrent-epistaxis" }, { "slug": "spontaneous-hematomas", "name": "Spontaneous hematomas", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spontaneous-hematomas" }, { "slug": "subarachnoid-hemorrhage", "name": "Subarachnoid hemorrhage", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/subarachnoid-hemorrhage" }, { "slug": "subdural-hemorrhage", "name": "Subdural hemorrhage", "systems": [ "abnormality-of-blood-and-blood-forming-tissues", "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/subdural-hemorrhage" } ], "related": [ { "slug": "itgb3", "symbol": "ITGB3", "name": "integrin subunit beta 3", "shared": 1, "url": 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