{ "url": "https://dantelabs.com/ro/genes/agpat2", "gene": { "slug": "agpat2", "symbol": "AGPAT2", "name": "1-acylglycerol-3-phosphate O-acyltransferase 2", "hgnc": "HGNC:325", "summary": null, "location": "9q34.3", "locusType": "gene with protein product", "aliases": [ "LPAAT-beta", "LPLAT2" ], "previousSymbols": [ "BSCL" ], "ensemblId": "ENSG00000169692", "entrezId": 10555, "omim": [ "603100" ], "uniprot": [ "O15120" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "9", "start": 136673143, "end": 136687457, "strand": "-", "ensemblTranscript": "ENST00000371696.7", "refseqTranscript": "NM_006412.4", "ensemblProtein": "ENSP00000360761.2", "refseqProtein": "NP_006403.2", "exons": [ { "start": 136673143, "end": 136673927 }, { "start": 136674735, "end": 136674807 }, { "start": 136676585, "end": 136676680 }, { "start": 136676961, "end": 136677136 }, { "start": 136677423, "end": 136677556 }, { "start": 136687176, "end": 136687457 } ], "cds": { "start": 136673752, "end": 136687357 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"ENSG00000184925", "biotype": "protein_coding", "start": 136949391, "end": 136956535, "strand": "+", "slug": "lcn12" }, { "symbol": "PTGDS", "ensemblId": "ENSG00000107317", "biotype": "protein_coding", "start": 136975053, "end": 136981750, "strand": "+", "slug": "ptgds" }, { "symbol": "", "ensemblId": "ENSG00000284341", "biotype": "protein_coding", "start": 136977518, "end": 136985435, "strand": "+" }, { "symbol": "LCNL1", "ensemblId": "ENSG00000214402", "biotype": "protein_coding", "start": 136981904, "end": 136986410, "strand": "+", "slug": "lcnl1" }, { "symbol": "PAXX", "ensemblId": "ENSG00000310560", "biotype": "protein_coding", "start": 136992400, "end": 136994074, "strand": "+" }, { "symbol": "CLIC3", "ensemblId": "ENSG00000169583", "biotype": "protein_coding", "start": 136994608, "end": 136996729, "strand": "-", "slug": "clic3" }, { "symbol": "ABCA2", "ensemblId": "ENSG00000107331", "biotype": "protein_coding", "start": 137007226, "end": 137028915, "strand": "-", "slug": "abca2" }, { "symbol": "FUT7", "ensemblId": "ENSG00000180549", "biotype": "protein_coding", "start": 137030174, "end": 137032825, "strand": "-", "slug": "fut7" }, { "symbol": "", "ensemblId": "ENSG00000279073", "biotype": "protein_coding", "start": 137031241, "end": 137040436, "strand": "-" }, { "symbol": "NPDC1", "ensemblId": "ENSG00000107281", "biotype": "protein_coding", "start": 137037577, "end": 137046700, "strand": "-", "slug": "npdc1" }, { "symbol": "ENTPD2", "ensemblId": "ENSG00000054179", "biotype": "protein_coding", "start": 137048107, "end": 137054069, "strand": "-", "slug": "entpd2" }, { "symbol": "SAPCD2", "ensemblId": "ENSG00000186193", "biotype": "protein_coding", "start": 137062127, "end": 137070593, "strand": "-", "slug": "sapcd2" }, { "symbol": "UAP1L1", "ensemblId": "ENSG00000197355", "biotype": "protein_coding", "start": 137077470, "end": 137084544, "strand": "+", "slug": "uap1l1" }, { "symbol": "MAN1B1", "ensemblId": "ENSG00000177239", "biotype": "protein_coding", "start": 137085917, "end": 137109189, "strand": "+", "slug": "man1b1" }, { "symbol": "DPP7", "ensemblId": "ENSG00000176978", "biotype": "protein_coding", "start": 137110540, "end": 137118309, "strand": "-", "slug": "dpp7" }, { "symbol": "GRIN1", "ensemblId": "ENSG00000176884", "biotype": "protein_coding", "start": 137138346, "end": 137168765, "strand": "+", "slug": "grin1" }, { "symbol": "LRRC26", "ensemblId": "ENSG00000184709", "biotype": "protein_coding", "start": 137168758, "end": 137170058, "strand": "-", "slug": "lrrc26" }, { "symbol": "", "ensemblId": "ENSG00000261793", "biotype": "protein_coding", "start": 137168854, "end": 137171984, "strand": "-" }, { "symbol": "TMEM210", "ensemblId": "ENSG00000185863", "biotype": "protein_coding", "start": 137170858, "end": 137172056, "strand": "-", "slug": "tmem210" }, { "symbol": "ANAPC2", "ensemblId": "ENSG00000176248", "biotype": "protein_coding", "start": 137174784, "end": 137189028, "strand": "-", "slug": "anapc2" } ], "truncated": false }, "reports": [ { "slug": "lipodystrophy", "name": "Lipodistrofie", "diseases": [ { "mondoId": "MONDO:0018883", "name": "Lipodistrofie congenitală Berardinelli-Seip", "genes": 3, "inheritance": "autosomal-recessive", "description": "O lipodistrofie caracterizată prin asocierea dintre lipoatrofie, hipertrigliceridemie, hepatomegalie și trăsături acromegaloide. BSCL face parte din grupul sindroamelor de rezistență extremă la insulină, care includ, de asemenea, leprechaunism, sindromul Rabson-Mendenhall, lipodistrofia generalizată dobândită și rezistența la insulină de tip A și de tip B.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0006536", "name": "Lipodistrofie congenitală generalizată", "genes": 4, "inheritance": "autosomal-recessive", "description": "O afecțiune extrem de rară, autozomal recesivă, caracterizată printr-o lipsă extremă de grăsime în țesuturile subcutanate.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "Natera", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ro/conditions/lipodystrophy" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "acute-pancreatitis", "name": "Acute pancreatic inflammation", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/acute-pancreatitis" }, { "slug": "accelerated-skeletal-maturation", "name": "Advanced bone age", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/accelerated-skeletal-maturation" }, { "slug": "mandibular-prognathia", "name": "Big lower jaw", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/mandibular-prognathia" }, { "slug": "cystic-angiomatosis-of-bone", "name": "Cystic angiomatosis of bone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/cystic-angiomatosis-of-bone" }, { "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-fertility-in-females", "name": "Decreased fertility in females", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/decreased-fertility-in-females" }, { "slug": "decreased-serum-leptin", "name": "Decreased serum leptin", "systems": [ "abnormality-of-the-endocrine-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-serum-leptin" }, { "slug": "diabetes-mellitus", "name": "Diabetes mellitus", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/diabetes-mellitus" }, { "slug": "cardiomyopathy", "name": "Disease of the heart muscle", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/cardiomyopathy" }, { "slug": "clitoral-hypertrophy", "name": "Enlarged clitoris", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/clitoral-hypertrophy" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "labial-hypertrophy", "name": "Enlargement of the labia", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/labial-hypertrophy" }, { "slug": "hirsutism", "name": "Excessive hairiness", "systems": [ "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/hirsutism" }, { "slug": "hepatic-steatosis", "name": "Fatty infiltration of liver", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatic-steatosis" }, { "slug": "generalized-muscular-appearance-from-birth", "name": "Generalized muscular appearance from birth", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/generalized-muscular-appearance-from-birth" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "hyperinsulinemia", "name": "Hyperinsulinemia", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/hyperinsulinemia" }, { "slug": "lipodystrophy", "name": "Inability to make and keep healthy fat tissue", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/lipodystrophy" }, { "slug": "polyphagia", "name": "Increased appetite", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/polyphagia" }, { "slug": "hypertriglyceridemia", "name": "Increased plasma triglycerides", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/hypertriglyceridemia" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "insulin-resistant-diabetes-mellitus-at-puberty", "name": "Insulin-resistant diabetes mellitus at puberty", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-endocrine-system" ], "url": "https://dantelabs.com/traits/insulin-resistant-diabetes-mellitus-at-puberty" }, { "slug": "kidney-stone", "name": "Kidney stone", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/kidney-stone" }, { "slug": "macrotia", "name": "Large ears", "systems": [ "abnormality-of-the-ear" ], "url": "https://dantelabs.com/traits/macrotia" }, { "slug": "large-hands", "name": "Large hands", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/large-hands" }, { "slug": "long-foot", "name": "Long foot", "systems": [ "abnormality-of-limbs" ], "url": "https://dantelabs.com/traits/long-foot" }, { "slug": "polycystic-ovaries", "name": "Polycystic ovaries", "systems": [ "abnormality-of-the-genitourinary-system" ], "url": "https://dantelabs.com/traits/polycystic-ovaries" }, { "slug": "prominent-umbilicus", "name": "Prominent belly button", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/prominent-umbilicus" }, { "slug": "reduced-subcutaneous-adipose-tissue", "name": "Reduced fat tissue below the skin", "systems": [ "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/reduced-subcutaneous-adipose-tissue" }, { "slug": "reduced-intraabdominal-adipose-tissue", "name": "Reduced intraabdominal adipose tissue", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/reduced-intraabdominal-adipose-tissue" }, { "slug": "reduced-intrathoracic-adipose-tissue", "name": "Reduced intrathoracic adipose tissue", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/reduced-intrathoracic-adipose-tissue" }, { "slug": "cirrhosis", "name": "Scar tissue replaces healthy tissue in the liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/cirrhosis" }, { "slug": "tall-stature", "name": "Tall stature", "systems": [ "growth-abnormality" ], "url": "https://dantelabs.com/traits/tall-stature" }, { "slug": "triangular-face", "name": "Triangular face", "systems": [ "abnormality-of-head-or-neck" ], "url": "https://dantelabs.com/traits/triangular-face" }, { "slug": "umbilical-hernia", "name": "Umbilical hernia", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/umbilical-hernia" } ], "related": [ { "slug": "bscl2", "symbol": "BSCL2", "name": "BSCL2 lipid droplet biogenesis associated, seipin", "shared": 2, "url": "https://dantelabs.com/ro/genes/bscl2" }, { "slug": "cav1", "symbol": "CAV1", "name": "caveolin 1", "shared": 2, "url": "https://dantelabs.com/ro/genes/cav1" }, { "slug": "cavin1", "symbol": "CAVIN1", "name": "caveolae associated protein 1", "shared": 1, "url": "https://dantelabs.com/ro/genes/cavin1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }