{ "url": "https://dantelabs.com/sv/genes/akt2", "gene": { "slug": "akt2", "symbol": "AKT2", "name": "AKT serine/threonine kinase 2", "hgnc": "HGNC:392", "summary": null, "location": "19q13.2", "locusType": "gene with protein product", "aliases": [ "PKBβ" ], "previousSymbols": [], "ensemblId": "ENSG00000105221", "entrezId": 208, "omim": [ "164731" ], "uniprot": [ "P31751" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 40230317, "end": 40285345, "strand": "-", "ensemblTranscript": "ENST00000392038.7", "refseqTranscript": "NM_001626.6", "ensemblProtein": "ENSP00000375892.2", "refseqProtein": "NP_001617.1", "exons": [ { "start": 40230317, "end": 40233951 }, { "start": 40235045, "end": 40235147 }, { "start": 40235263, "end": 40235350 }, { "start": 40235890, "end": 40236104 }, { "start": 40236257, "end": 40236385 }, { "start": 40237969, "end": 40238091 }, { "start": 40238905, "end": 40238973 }, { "start": 40240045, "end": 40240110 }, { "start": 40241938, "end": 40242069 }, { "start": 40242534, "end": 40242687 }, { "start": 40255158, "end": 40255269 }, { "start": 40256926, "end": 40257054 }, { "start": 40265222, "end": 40265351 }, { "start": 40285181, "end": 40285345 } ], "cds": { "start": 40233872, "end": 40265267 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "19", "start": 40736224, "end": 40791443, "strand": "-" }, "neighbourhood": { "release": "116", "start": 39757831, "end": 40757830, "genes": [ { "symbol": "LEUTX", "ensemblId": "ENSG00000213921", "biotype": "protein_coding", "start": 39776595, "end": 39786291, "strand": "+", "slug": "leutx" }, { "symbol": "DYRK1B", "ensemblId": "ENSG00000105204", "biotype": "protein_coding", "start": 39825350, "end": 39834201, "strand": "-", "slug": "dyrk1b" }, { "symbol": "", "ensemblId": "ENSG00000291312", "biotype": "protein_coding", "start": 39830482, "end": 39831956, "strand": "-" }, { "symbol": "FBL", "ensemblId": "ENSG00000105202", "biotype": "protein_coding", "start": 39834443, "end": 39846440, "strand": "-", "slug": "fbl" }, { "symbol": "FCGBP", "ensemblId": "ENSG00000275395", "biotype": "protein_coding", "start": 39863323, "end": 39934634, "strand": "-", "slug": "fcgbp" }, { "symbol": "PSMC4", "ensemblId": "ENSG00000013275", "biotype": "protein_coding", "start": 39970990, "end": 39982814, "strand": "+", "slug": "psmc4" }, { "symbol": "ZNF546", "ensemblId": "ENSG00000187187", "biotype": "protein_coding", "start": 39984134, "end": 40021038, "strand": "+", "slug": "znf546" }, { "symbol": "ZNF780B", "ensemblId": "ENSG00000128000", "biotype": "protein_coding", "start": 40023079, "end": 40056305, "strand": "-", "slug": "znf780b" }, { "symbol": "ZNF780A", "ensemblId": "ENSG00000197782", "biotype": "protein_coding", "start": 40069152, "end": 40091140, "strand": "-", "slug": "znf780a" }, { "symbol": "MAP3K10", "ensemblId": "ENSG00000130758", "biotype": "protein_coding", "start": 40191412, "end": 40215579, "strand": "+", "slug": "map3k10" }, { "symbol": "TTC9B", "ensemblId": "ENSG00000174521", "biotype": "protein_coding", "start": 40216058, "end": 40218521, "strand": "-", "slug": "ttc9b" }, { "symbol": "CCNP", "ensemblId": "ENSG00000105219", "biotype": "protein_coding", "start": 40222208, "end": 40226697, "strand": "-", "slug": "ccnp" }, { "symbol": "C19orf47", "ensemblId": "ENSG00000160392", "biotype": "protein_coding", "start": 40294427, "end": 40348547, "strand": "-", "slug": "c19orf47" }, { "symbol": "PLD3", "ensemblId": "ENSG00000105223", "biotype": "protein_coding", "start": 40348453, "end": 40389472, "strand": "+", "slug": "pld3" }, { "symbol": "HIPK4", "ensemblId": "ENSG00000160396", "biotype": "protein_coding", "start": 40379271, "end": 40390181, "strand": "-", "slug": "hipk4" }, { "symbol": "PRX", "ensemblId": "ENSG00000105227", "biotype": "protein_coding", "start": 40393764, "end": 40415070, "strand": "-", "slug": "prx" }, { "symbol": "SERTAD1", "ensemblId": "ENSG00000197019", "biotype": "protein_coding", "start": 40421589, "end": 40426001, "strand": "-", "slug": "sertad1" }, { "symbol": "SERTAD3", "ensemblId": "ENSG00000167565", "biotype": "protein_coding", "start": 40440642, "end": 40445114, "strand": "-", "slug": "sertad3" }, { "symbol": "BLVRB", "ensemblId": "ENSG00000090013", "biotype": "protein_coding", "start": 40446758, "end": 40465826, "strand": "-", "slug": "blvrb" }, { "symbol": "SPTBN4", "ensemblId": "ENSG00000160460", "biotype": "protein_coding", "start": 40466241, "end": 40576464, "strand": "+", "slug": "sptbn4" }, { "symbol": "SHKBP1", "ensemblId": "ENSG00000160410", "biotype": "protein_coding", "start": 40576844, "end": 40591399, "strand": "+", "slug": "shkbp1" }, { "symbol": "LTBP4", "ensemblId": "ENSG00000090006", "biotype": "protein_coding", "start": 40592883, "end": 40629821, "strand": "+", "slug": "ltbp4" }, { "symbol": "NUMBL", "ensemblId": "ENSG00000105245", "biotype": "protein_coding", "start": 40665905, "end": 40690972, "strand": "-", "slug": "numbl" }, { "symbol": "COQ8B", "ensemblId": "ENSG00000123815", "biotype": "protein_coding", "start": 40691514, "end": 40725784, "strand": "-", "slug": "coq8b" }, { "symbol": "ITPKC", "ensemblId": "ENSG00000086544", "biotype": "protein_coding", "start": 40716964, "end": 40740860, "strand": "+", "slug": "itpkc" }, { "symbol": "ACTMAP", "ensemblId": "ENSG00000188493", "biotype": "protein_coding", "start": 40740856, "end": 40751813, "strand": "-", "slug": "actmap" }, { "symbol": "SNRPA", "ensemblId": "ENSG00000077312", "biotype": "protein_coding", "start": 40750585, "end": 40765393, "strand": "+", "slug": "snrpa" } ], "truncated": false }, "reports": [ { "slug": "diabetes-mellitus", "name": "Diabetes mellitus", "diseases": [ { "mondoId": "MONDO:0005015", "name": "Diabetes mellitus", "genes": 31, "inheritance": null, "description": "En ämnesomsättningsrubbning som kännetecknas av onormalt höga blodsockernivåer på grund av minskad insulinproduktion eller insulinresistens/desensibilisering.", "management": "Teplizumab (Tzield) vid presymptomatisk typ 1-diabetes steg 2 (FDA-godkänd 2022); insulinersättning vid klinisk debut av typ 1-diabetes; TrialNet-screening för autoantikroppar hos släktingar med hög risk; slutna system för automatisk insulinleverans", "evidence": { "gencc": [ "Genomics England PanelApp" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": true, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/diabetes-mellitus" }, { "slug": "lipodystrophy", "name": "Lipodystrofi", "diseases": [ { "mondoId": "MONDO:0020088", "name": "Familjär partiell lipodystrofi", "genes": 7, "inheritance": null, "description": "Omfattar formerna med LMNA (Dunnigan), PPARG, PLIN1, LIPE, AKT2, CAV1 och PLAAT3, som orsakar fettförlust i armar och ben samt skinkor, tillsammans med insulinresistens, diabetes, höga triglycerider och fettlever.", "management": "Om du känner till din variant möjliggörs tidig screening och behandling av diabetes, triglycerider och leversjukdom, och i utvalda fall metreleptin.", "evidence": { "gencc": [ "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/lipodystrophy" }, { "slug": "severe-inherited-insulin-resistance", "name": "Svår ärftlig insulinresistens", "diseases": [ { "mondoId": "MONDO:0009416", "name": "Hypoinsulinemisk hypoglykemi med kroppshemihypertrofi", "genes": 1, "inheritance": "autosomal-dominant", "description": "Lågt blodsocker med låga insulinnivåer och ojämn kroppstillväxt, orsakad av aktiverande varianter i AKT2.", "management": null, "evidence": { "gencc": [ "ClinGen", "G2P", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/sv/conditions/severe-inherited-insulin-resistance" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-circulating-insulin-concentration", "name": "Abnormal circulating insulin concentration", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-circulating-insulin-concentration" }, { "slug": "hemihypertrophy", "name": "Asymmetric overgrowth", "systems": [ "abnormality-of-limbs", "growth-abnormality" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hemihypertrophy" }, { "slug": "autoimmunity", "name": "Autoimmunity", "systems": [ "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/autoimmunity" }, { "slug": "large-for-gestational-age", "name": "Birth weight > 90th percentile", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/large-for-gestational-age" }, { "slug": "insulin-resistance", "name": "Body fails to respond to insulin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/insulin-resistance" }, { "slug": "hypoglycemic-coma", "name": "Coma caused by low blood sugar", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoglycemic-coma" }, { "slug": "acanthosis-nigricans", "name": "Darkened and thickened skin", "systems": [ "abnormality-of-the-integument" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/acanthosis-nigricans" }, { "slug": "decreased-adiponectin-level", "name": "Decreased adiponectin level", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-adiponectin-level" }, { "slug": "decreased-serum-leptin", "name": "Decreased serum leptin", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-serum-leptin" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "gynecomastia", "name": "Enlarged male breast", "systems": [ "abnormality-of-the-breast" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gynecomastia" }, { "slug": "enlarged-tonsils", "name": "Enlarged tonsils", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/enlarged-tonsils" }, { "slug": "facial-asymmetry", "name": "Facial asymmetry", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/facial-asymmetry" }, { "slug": "hepatic-steatosis", "name": "Fatty infiltration of liver", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hepatic-steatosis" }, { "slug": "bilateral-tonic-clonic-seizure", "name": "Grand mal seizures", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/bilateral-tonic-clonic-seizure" }, { "slug": "polyhydramnios", "name": "High levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/polyhydramnios" }, { "slug": "hypoglycemic-seizures", "name": "Hypoglycemic seizures", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoglycemic-seizures" }, { "slug": "hypoinsulinemia", "name": "Hypoinsulinemia", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypoinsulinemia" }, { "slug": "hypoketotic-hypoglycemia", "name": "Hypoketotic hypoglycemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypoketotic-hypoglycemia" }, { "slug": "lipodystrophy", "name": "Inability to make and keep healthy fat tissue", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lipodystrophy" }, { "slug": "increased-circulating-free-fatty-acid-level", "name": "Increased circulating free fatty acid level", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/increased-circulating-free-fatty-acid-level" }, { "slug": "increased-hepatic-glycogen-content", "name": "Increased hepatic glycogen content", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-hepatic-glycogen-content" }, { "slug": "increased-intraabdominal-fat", "name": "Increased intraabdominal fat", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/increased-intraabdominal-fat" }, { "slug": "hypertriglyceridemia", "name": "Increased plasma triglycerides", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/hypertriglyceridemia" }, { "slug": "increased-waist-to-hip-ratio", "name": "Increased waist to hip ratio", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/increased-waist-to-hip-ratio" }, { "slug": "insulin-resistant-diabetes-mellitus", "name": "Insulin resistant diabetes", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/insulin-resistant-diabetes-mellitus" }, { "slug": "oligomenorrhea", "name": "Light or infrequent menstrual periods", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/oligomenorrhea" }, { "slug": "hypoglycemia", "name": "Low blood sugar", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypoglycemia" }, { "slug": "neonatal-hypoglycemia", "name": "Low blood sugar in newborn", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/neonatal-hypoglycemia" }, { "slug": "fasting-hypoglycemia", "name": "Low blood sugar when fasting", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/fasting-hypoglycemia" }, { "slug": "type-ii-diabetes-mellitus", "name": "Noninsulin-dependent diabetes", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/type-ii-diabetes-mellitus" }, { "slug": "nonketotic-hypoglycemia", "name": "Nonketotic hypoglycemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/nonketotic-hypoglycemia" }, { "slug": "obesity", "name": "Obesity", "systems": [ "growth-abnormality" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/obesity" }, { "slug": "polycystic-ovaries", "name": "Polycystic ovaries", "systems": [ "abnormality-of-the-genitourinary-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/polycystic-ovaries" }, { "slug": "truncal-obesity", "name": "Truncal obesity", "systems": [ "growth-abnormality" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/truncal-obesity" } ], "related": [ { "slug": "abcc8", "symbol": "ABCC8", "name": "ATP binding cassette subfamily C member 8", "shared": 1, "url": "https://dantelabs.com/sv/genes/abcc8" }, { "slug": "appl1", "symbol": "APPL1", "name": "adaptor protein, phosphotyrosine interacting with PH domain and leucine zipper 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/appl1" }, { "slug": "bscl2", "symbol": "BSCL2", "name": "BSCL2 lipid droplet biogenesis associated, seipin", "shared": 1, "url": "https://dantelabs.com/sv/genes/bscl2" }, { "slug": "cav1", "symbol": "CAV1", "name": "caveolin 1", "shared": 1, "url": "https://dantelabs.com/sv/genes/cav1" }, { "slug": "cel", "symbol": "CEL", "name": "carboxyl ester lipase", "shared": 1, "url": "https://dantelabs.com/sv/genes/cel" }, { "slug": "eif2b1", "symbol": "EIF2B1", "name": "eukaryotic translation initiation factor 2B subunit alpha", "shared": 1, "url": "https://dantelabs.com/sv/genes/eif2b1" }, { "slug": "eif2s3", "symbol": "EIF2S3", "name": "eukaryotic translation initiation factor 2 subunit gamma", "shared": 1, "url": "https://dantelabs.com/sv/genes/eif2s3" }, { "slug": "gata4", "symbol": "GATA4", "name": "GATA binding protein 4", "shared": 1, "url": "https://dantelabs.com/sv/genes/gata4" }, { "slug": "gata6", "symbol": "GATA6", "name": "GATA binding protein 6", "shared": 1, "url": "https://dantelabs.com/sv/genes/gata6" }, { "slug": "gck", "symbol": "GCK", "name": "glucokinase", "shared": 1, "url": "https://dantelabs.com/sv/genes/gck" }, { "slug": "glis3", "symbol": "GLIS3", "name": "GLIS family zinc finger 3", "shared": 1, "url": "https://dantelabs.com/sv/genes/glis3" }, { "slug": "hnf1a", "symbol": "HNF1A", "name": "HNF1 homeobox A", "shared": 1, "url": "https://dantelabs.com/sv/genes/hnf1a" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }