{ "url": "https://dantelabs.com/ko/genes/rhag", "gene": { "slug": "rhag", "symbol": "RHAG", "name": "Rh associated glycoprotein", "hgnc": "HGNC:10006", "summary": null, "location": "6p12.3", "locusType": "gene with protein product", "aliases": [ "RH50A", "CD241", "SLC42A1" ], "previousSymbols": [], "ensemblId": "ENSG00000112077", "entrezId": 6005, "omim": [ "180297" ], "uniprot": [ "Q02094" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "6", "start": 49605175, "end": 49636839, "strand": "-", "ensemblTranscript": "ENST00000371175.10", "refseqTranscript": "NM_000324.3", "ensemblProtein": "ENSP00000360217.4", "refseqProtein": "NP_000315.2", "exons": [ { "start": 49605175, "end": 49605830 }, { "start": 49606848, "end": 49606921 }, { "start": 49607150, "end": 49607220 }, { "start": 49611024, "end": 49611145 }, { "start": 49612397, "end": 49612534 }, { "start": 49614687, "end": 49614853 }, { "start": 49615624, "end": 49615771 }, { "start": 49618068, "end": 49618218 }, { "start": 49619179, "end": 49619362 }, { "start": 49636656, "end": 49636839 } ], "cds": { "start": 49605813, "end": 49636812 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "6", "start": 49572871, "end": 49604552, "strand": "-" }, "neighbourhood": { "release": "116", "start": 49121007, "end": 50121006, "genes": [ { "symbol": "MMUT", "ensemblId": "ENSG00000146085", "biotype": "protein_coding", "start": 49430360, "end": 49463321, "strand": "-", "slug": "mmut" }, { "symbol": "CENPQ", "ensemblId": "ENSG00000031691", "biotype": "protein_coding", "start": 49463335, "end": 49495815, "strand": "+", "slug": "cenpq" }, { "symbol": "GLYATL3", "ensemblId": "ENSG00000203972", "biotype": "protein_coding", "start": 49499923, "end": 49528078, "strand": "+", "slug": "glyatl3" }, { "symbol": "C6orf141", "ensemblId": "ENSG00000197261", "biotype": "protein_coding", "start": 49550656, "end": 49561914, "strand": "+", "slug": "c6orf141" }, { "symbol": "CRISP2", "ensemblId": "ENSG00000124490", "biotype": "protein_coding", "start": 49692358, "end": 49714703, "strand": "-", "slug": "crisp2" }, { "symbol": "CRISP3", "ensemblId": "ENSG00000096006", "biotype": "protein_coding", "start": 49727376, "end": 49744445, "strand": "-", "slug": "crisp3" }, { "symbol": "PGK2", "ensemblId": "ENSG00000170950", "biotype": "protein_coding", "start": 49773390, "end": 49787285, "strand": "-", "slug": "pgk2" }, { "symbol": "CRISP1", "ensemblId": "ENSG00000124812", "biotype": "protein_coding", "start": 49834257, "end": 49877096, "strand": "-", "slug": "crisp1" }, { "symbol": "DEFB114", "ensemblId": "ENSG00000177684", "biotype": "protein_coding", "start": 49960249, "end": 49964164, "strand": "-", "slug": "defb114" }, { "symbol": "DEFB113", "ensemblId": "ENSG00000214642", "biotype": "protein_coding", "start": 49968677, "end": 49969625, "strand": "-", "slug": "defb113" }, { "symbol": "DEFB110", "ensemblId": "ENSG00000203970", "biotype": "protein_coding", "start": 50009138, "end": 50021994, "strand": "-", "slug": "defb110" }, { "symbol": "DEFB112", "ensemblId": "ENSG00000180872", "biotype": "protein_coding", "start": 50042099, "end": 50049936, "strand": "-", "slug": "defb112" } ], "truncated": false }, "reports": [ { "slug": "red-blood-cell-membrane-disorders", "name": "적혈구 막 질환", "diseases": [ { "mondoId": "MONDO:0020102", "name": "유전성 스토마토사이토시스", "genes": 5, "inheritance": "autosomal-dominant", "description": "적혈구가 물과 염분을 잃거나 과도하게 흡수하는 질환군으로, 탈수형 유전성 스토마토사이토시스(PIEZO1, KCNN4), 과수화형 스토마토사이토시스(RHAG), 동남아시아 타원적혈구증 및 Rh 결핍 증후군을 포함합니다. 이러한 질환은 다양한 정도의 용혈성 빈혈을 일으키며, 때때로 철 과부하를 동반할 수 있습니다.", "management": "이러한 질환에서는 비장 절제술이 심각한 혈전 위험을 높이므로 피해야 합니다.", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant", "autosomal-recessive" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/red-blood-cell-membrane-disorders" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-thrombosis", "name": "Abnormal blood clot", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-thrombosis" }, { "slug": "abnormal-mean-corpuscular-volume", "name": "Abnormal mean corpuscular volume", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-mean-corpuscular-volume" }, { "slug": "pulmonary-embolism", "name": "Blood clot in artery of lung", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pulmonary-embolism" }, { "slug": "decreased-circulating-haptoglobin-concentration", "name": "Decreased circulating haptoglobin concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-circulating-haptoglobin-concentration" }, { "slug": "decreased-mean-corpuscular-hemoglobin-concentration", "name": "Decreased mean corpuscular hemoglobin concentration", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/decreased-mean-corpuscular-hemoglobin-concentration" }, { "slug": "tachycardia", "name": "Elevated heart rate", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tachycardia" }, { "slug": "hepatomegaly", "name": "Enlarged liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/hepatomegaly" }, { "slug": "hepatosplenomegaly", "name": "Enlarged liver and spleen", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hepatosplenomegaly" }, { "slug": "fatigue", "name": "Fatigue", "systems": [ "constitutional-symptom" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/fatigue" }, { "slug": "hemolytic-anemia", "name": "Hemolytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hemolytic-anemia" }, { "slug": "hyperbilirubinemia", "name": "High blood bilirubin levels", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hyperbilirubinemia" }, { "slug": "hypochromia", "name": "Hypochromia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypochromia" }, { "slug": "increased-circulating-lactate-dehydrogenase-concentration", "name": "Increased circulating lactate dehydrogenase concentration", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/increased-circulating-lactate-dehydrogenase-concentration" }, { "slug": "reticulocytosis", "name": "Increased immature red blood cells", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reticulocytosis" }, { "slug": "increased-intracellular-sodium", "name": "Increased intracellular sodium", "systems": [ "abnormal-cellular-phenotype", "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/increased-intracellular-sodium" }, { "slug": "increased-mean-corpuscular-volume", "name": "Increased mean corpuscular volume", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-mean-corpuscular-volume" }, { "slug": "increased-red-cell-osmotic-fragility", "name": "Increased red cell osmotic fragility", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/increased-red-cell-osmotic-fragility" }, { "slug": "tachypnea", "name": "Increased respiratory rate or depth of breathing", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tachypnea" }, { "slug": "splenomegaly", "name": "Increased spleen size", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-digestive-system", "abnormality-of-the-immune-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/splenomegaly" }, { "slug": "intermittent-jaundice", "name": "Intermittent yellow skin", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intermittent-jaundice" }, { "slug": "jaundice", "name": "Jaundice", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/jaundice" }, { "slug": "hypoxemia", "name": "Low blood oxygen level", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hypoxemia" }, { "slug": "oligohydramnios", "name": "Low levels of amniotic fluid", "systems": [ "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/oligohydramnios" }, { "slug": "macrocytic-anemia", "name": "Macrocytic anemia", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/macrocytic-anemia" }, { "slug": "positive-direct-antiglobulin-test", "name": "Positive direct antiglobulin test", "systems": [ "abnormality-of-the-immune-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/positive-direct-antiglobulin-test" }, { "slug": "intrauterine-growth-retardation", "name": "Prenatal growth deficiency", "systems": [ "growth-abnormality" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intrauterine-growth-retardation" }, { "slug": "prolonged-neonatal-jaundice", "name": "Prolonged yellowing of skin in newborn", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice" }, { "slug": "spherocytosis", "name": "Spherocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/spherocytosis" }, { "slug": "stomatocytosis", "name": "Stomatocytosis", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/stomatocytosis" }, { "slug": "unconjugated-hyperbilirubinemia", "name": "Unconjugated hyperbilirubinemia", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/unconjugated-hyperbilirubinemia" }, { "slug": "anisocytosis", "name": "Unequal size of red blood cells", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/anisocytosis" } ], "related": [ { "slug": "kcnn4", "symbol": "KCNN4", "name": "potassium calcium-activated channel subfamily N member 4", "shared": 1, "url": "https://dantelabs.com/ko/genes/kcnn4" }, { "slug": "piezo1", "symbol": "PIEZO1", "name": "piezo type mechanosensitive ion channel component 1 (Er blood group)", "shared": 1, "url": "https://dantelabs.com/ko/genes/piezo1" }, { "slug": "rhce", "symbol": "RHCE", "name": "Rh blood group CcEe antigens", "shared": 1, "url": "https://dantelabs.com/ko/genes/rhce" }, { "slug": "slc4a1", "symbol": "SLC4A1", "name": "solute carrier family 4 member 1 (Diego blood group)", "shared": 1, "url": "https://dantelabs.com/ko/genes/slc4a1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }