{ "url": "https://dantelabs.com/ko/genes/vma22", "gene": { "slug": "vma22", "symbol": "VMA22", "name": "vacuolar ATPase assembly factor VMA22", "hgnc": "HGNC:28178", "summary": null, "location": "2q21.1", "locusType": "gene with protein product", "aliases": [ "MGC12981", "FLJ30131", "ccp1" ], "previousSymbols": [ "CCDC115" ], "ensemblId": "ENSG00000136710", "entrezId": 84317, "omim": [ "613734" ], "uniprot": [ "Q96NT0" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "2", "start": 130337933, "end": 130342164, "strand": "-", "ensemblTranscript": "ENST00000259229.7", "refseqTranscript": "NM_032357.4", "ensemblProtein": "ENSP00000259229.2", "refseqProtein": "NP_115733.2", "exons": [ { "start": 130337933, "end": 130339232 }, { "start": 130340908, "end": 130341039 }, { "start": 130341667, "end": 130341749 }, { "start": 130341841, "end": 130341944 }, { "start": 130342015, "end": 130342164 } ], "cds": { "start": 130339120, "end": 130342125 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "2", "start": 131095814, "end": 131099922, "strand": "-" }, "neighbourhood": { "release": "116", "start": 129840049, "end": 130840048, "genes": [ { "symbol": "RAB6C", "ensemblId": "ENSG00000222014", "biotype": "protein_coding", "start": 129979666, "end": 129982738, "strand": "+", "slug": "rab6c" }, { "symbol": "POTEF", "ensemblId": "ENSG00000196604", "biotype": "protein_coding", "start": 130073535, "end": 130129371, "strand": "-", "slug": "potef" }, { "symbol": "CCDC74B", "ensemblId": "ENSG00000152076", "biotype": "protein_coding", "start": 130139287, "end": 130145134, "strand": "-", "slug": "ccdc74b" }, { "symbol": "SMPD4", "ensemblId": "ENSG00000136699", "biotype": "protein_coding", "start": 130150745, "end": 130183922, "strand": "-", "slug": "smpd4" }, { "symbol": "MZT2B", "ensemblId": "ENSG00000152082", "biotype": "protein_coding", "start": 130181737, "end": 130190729, "strand": "+", "slug": "mzt2b" }, { "symbol": "TUBA3E", "ensemblId": "ENSG00000152086", "biotype": "protein_coding", "start": 130191743, "end": 130198461, "strand": "-", "slug": "tuba3e" }, { "symbol": "IMP4", "ensemblId": "ENSG00000136718", "biotype": "protein_coding", "start": 130342403, "end": 130348550, "strand": "+", "slug": "imp4" }, { "symbol": "PTPN18", "ensemblId": "ENSG00000072135", "biotype": "protein_coding", "start": 130356026, "end": 130375409, "strand": "+", "slug": "ptpn18" }, { "symbol": "POTEI", "ensemblId": "ENSG00000196834", "biotype": "protein_coding", "start": 130459455, "end": 130509707, "strand": "-", "slug": "potei" }, { "symbol": "CFC1B", "ensemblId": "ENSG00000152093", "biotype": "protein_coding", "start": 130521197, "end": 130528604, "strand": "+", "slug": "cfc1b" }, { "symbol": "CFC1", "ensemblId": "ENSG00000136698", "biotype": "protein_coding", "start": 130592165, "end": 130599575, "strand": "-", "slug": "cfc1" }, { "symbol": "POTEJ", "ensemblId": "ENSG00000222038", "biotype": "protein_coding", "start": 130611440, "end": 130658037, "strand": "+", "slug": "potej" }, { "symbol": "GPR148", "ensemblId": "ENSG00000173302", "biotype": "protein_coding", "start": 130729070, "end": 130730336, "strand": "+", "slug": "gpr148" }, { "symbol": "AMER3", "ensemblId": "ENSG00000178171", "biotype": "protein_coding", "start": 130755532, "end": 130768134, "strand": "+", "slug": "amer3" }, { "symbol": "ARHGEF4", "ensemblId": "ENSG00000136002", "biotype": "protein_coding", "start": 130836864, "end": 131047263, "strand": "+", "slug": "arhgef4" } ], "truncated": false }, "reports": [ { "slug": "disorder-of-glycosylation", "name": "선천性 당화 장애", "diseases": [ { "mondoId": "MONDO:0015286", "name": "선천성 당화 장애(CDG)", "genes": 98, "inheritance": null, "description": "당사슬(당질)이 단백질과 지질에 올바르게 만들어지거나 결합되지 않아 발생하는 유전성 질환의 큰 집단으로, 주로 뇌, 간, 혈액 응고, 성장 및 기타 여러 신체 계통에 영향을 줍니다. 대부분은 상염색체 열성 유전이지만, 일부는 X 연관 또는 상염색체 우성 유전입니다.", "management": null, "evidence": { "gencc": [ "G2P", "Labcorp Genetics (formerly Invitae)", "Laboratory for Molecular Medicine" ], "clingen": "Moderate", "acmgSf": false, "inheritance": [ "autosomal-recessive" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/ko/conditions/disorder-of-glycosylation" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-facial-shape", "name": "Abnormal facial shape", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/abnormal-facial-shape" }, { "slug": "abnormal-glycosylation", "name": "Abnormal glycosylation", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/abnormal-glycosylation" }, { "slug": "cholestatic-liver-disease", "name": "Cholestatic liver disease", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/cholestatic-liver-disease" }, { "slug": "copper-accumulation-in-liver", "name": "Copper accumulation in liver", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/copper-accumulation-in-liver" }, { "slug": "decreased-circulating-ceruloplasmin-concentration", "name": "Decreased serum ceruloplasmin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/decreased-circulating-ceruloplasmin-concentration" }, { "slug": "downslanted-palpebral-fissures", "name": "Downward slanting of the opening between the eyelids", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/downslanted-palpebral-fissures" }, { "slug": "ptosis", "name": "Drooping upper eyelid", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ptosis" }, { "slug": "elevated-alkaline-phosphatase-of-bone-origin", "name": "Elevated alkaline phosphatase of bone origin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-alkaline-phosphatase-of-bone-origin" }, { "slug": "elevated-circulating-creatine-kinase-activity", "name": "Elevated blood creatine phosphokinase", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/elevated-circulating-creatine-kinase-activity" }, { "slug": "hypercholesterolemia", "name": "Elevated serum cholesterol", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/hypercholesterolemia" }, { "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": "frequent", "url": "https://dantelabs.com/traits/hepatosplenomegaly" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "elevated-circulating-hepatic-transaminase-concentration", "name": "High liver enzymes", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-hepatic-transaminase-concentration" }, { "slug": "elevated-circulating-ldl-c-concentration", "name": "Increased circulating LDL level", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/elevated-circulating-ldl-c-concentration" }, { "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": "hepatic-failure", "name": "Liver failure", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hepatic-failure" }, { "slug": "long-face", "name": "Long face", "systems": [ "abnormality-of-head-or-neck" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/long-face" }, { "slug": "skeletal-muscle-atrophy", "name": "Muscle degeneration", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/skeletal-muscle-atrophy" }, { "slug": "prolonged-neonatal-jaundice", "name": "Prolonged yellowing of skin in newborn", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/prolonged-neonatal-jaundice" }, { "slug": "cirrhosis", "name": "Scar tissue replaces healthy tissue in the liver", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/cirrhosis" } ], "related": [ { "slug": "a4galt", "symbol": "A4GALT", "name": "alpha 1,4-galactosyltransferase (P1PK blood group)", "shared": 1, "url": "https://dantelabs.com/ko/genes/a4galt" }, { "slug": "alg1", "symbol": "ALG1", "name": "ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/ko/genes/alg1" }, { "slug": "alg11", "symbol": "ALG11", "name": "ALG11 alpha-1,2-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/ko/genes/alg11" }, { "slug": "alg12", "symbol": "ALG12", "name": "ALG12 alpha-1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/ko/genes/alg12" }, { "slug": "alg13", "symbol": "ALG13", "name": "ALG13 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/ko/genes/alg13" }, { "slug": "alg14", "symbol": "ALG14", "name": "ALG14 UDP-N-acetylglucosaminyltransferase subunit", "shared": 1, "url": "https://dantelabs.com/ko/genes/alg14" }, { "slug": "alg2", "symbol": "ALG2", "name": "ALG2 alpha-1,3/1,6-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/ko/genes/alg2" }, { "slug": "alg3", "symbol": "ALG3", "name": "ALG3 alpha-1,3- mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/ko/genes/alg3" }, { "slug": "alg6", "symbol": "ALG6", "name": "ALG6 alpha-1,3-glucosyltransferase", "shared": 1, "url": "https://dantelabs.com/ko/genes/alg6" }, { "slug": "alg8", "symbol": "ALG8", "name": "ALG8 alpha-1,3-glucosyltransferase", "shared": 1, "url": "https://dantelabs.com/ko/genes/alg8" }, { "slug": "alg9", "symbol": "ALG9", "name": "ALG9 alpha-1,2-mannosyltransferase", "shared": 1, "url": "https://dantelabs.com/ko/genes/alg9" }, { "slug": "atp6ap1", "symbol": "ATP6AP1", "name": "ATPase H+ transporting accessory protein 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/atp6ap1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }