{ "url": "https://dantelabs.com/ko/genes/ephb4", "gene": { "slug": "ephb4", "symbol": "EPHB4", "name": "EPH receptor B4", "hgnc": "HGNC:3395", "summary": null, "location": "7q22.1", "locusType": "gene with protein product", "aliases": [ "Tyro11" ], "previousSymbols": [ "HTK" ], "ensemblId": "ENSG00000196411", "entrezId": 2050, "omim": [ "600011" ], "uniprot": [ "P54760" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "7", "start": 100802565, "end": 100827523, "strand": "-", "ensemblTranscript": "ENST00000358173.8", "refseqTranscript": "NM_004444.5", "ensemblProtein": "ENSP00000350896.3", "refseqProtein": "NP_004435.3", "exons": [ { "start": 100802565, "end": 100803590 }, { "start": 100805166, "end": 100805321 }, { "start": 100805501, "end": 100805694 }, { "start": 100806420, "end": 100806569 }, { "start": 100807365, "end": 100807580 }, { "start": 100812747, "end": 100812994 }, { "start": 100813095, "end": 100813208 }, { "start": 100813652, "end": 100813716 }, { "start": 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"protein_coding", "start": 100367530, "end": 100400098, "strand": "+", "slug": "pilra" }, { "symbol": "", "ensemblId": "ENSG00000289690", "biotype": "protein_coding", "start": 100397577, "end": 100434107, "strand": "+" }, { "symbol": "ZCWPW1", "ensemblId": "ENSG00000078487", "biotype": "protein_coding", "start": 100400826, "end": 100428992, "strand": "-", "slug": "zcwpw1" }, { "symbol": "MEPCE", "ensemblId": "ENSG00000146834", "biotype": "protein_coding", "start": 100428322, "end": 100435138, "strand": "+", "slug": "mepce" }, { "symbol": "PPP1R35", "ensemblId": "ENSG00000160813", "biotype": "protein_coding", "start": 100435261, "end": 100436546, "strand": "-", "slug": "ppp1r35" }, { "symbol": "SPACDR", "ensemblId": "ENSG00000185955", "biotype": "protein_coding", "start": 100456620, "end": 100464277, "strand": "-", "slug": "spacdr" }, { "symbol": "TSC22D4", "ensemblId": "ENSG00000166925", "biotype": "protein_coding", "start": 100466508, "end": 100479257, "strand": "-", "slug": "tsc22d4" 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100602321, "end": 100608175, "strand": "+", "slug": "pcolce" }, { "symbol": "MOSPD3", "ensemblId": "ENSG00000106330", "biotype": "protein_coding", "start": 100612102, "end": 100616004, "strand": "+", "slug": "mospd3" }, { "symbol": "TFR2", "ensemblId": "ENSG00000106327", "biotype": "protein_coding", "start": 100620416, "end": 100642779, "strand": "-", "slug": "tfr2" }, { "symbol": "ACTL6B", "ensemblId": "ENSG00000077080", "biotype": "protein_coding", "start": 100643097, "end": 100656458, "strand": "-", "slug": "actl6b" }, { "symbol": "GNB2", "ensemblId": "ENSG00000172354", "biotype": "protein_coding", "start": 100673477, "end": 100679174, "strand": "+", "slug": "gnb2" }, { "symbol": "GIGYF1", "ensemblId": "ENSG00000146830", "biotype": "protein_coding", "start": 100679505, "end": 100694481, "strand": "-", "slug": "gigyf1" }, { "symbol": "POP7", "ensemblId": "ENSG00000172336", "biotype": "protein_coding", "start": 100695902, "end": 100708628, "strand": "+", "slug": "pop7" }, { "symbol": "EPO", "ensemblId": "ENSG00000130427", "biotype": "protein_coding", "start": 100720465, "end": 100723700, "strand": "+", "slug": "epo" }, { "symbol": "ZAN", "ensemblId": "ENSG00000146839", "biotype": "protein_coding", "start": 100733595, "end": 100797797, "strand": "+", "slug": "zan" }, { "symbol": "SLC12A9", "ensemblId": "ENSG00000146828", "biotype": "protein_coding", "start": 100826820, "end": 100867017, "strand": "+", "slug": "slc12a9" }, { "symbol": "TRIP6", "ensemblId": "ENSG00000087077", "biotype": "protein_coding", "start": 100867126, "end": 100873524, "strand": "+", "slug": "trip6" }, { "symbol": "SRRT", "ensemblId": "ENSG00000087087", "biotype": "protein_coding", "start": 100875065, "end": 100888664, "strand": "+", "slug": "srrt" }, { "symbol": "UFSP1", "ensemblId": "ENSG00000176125", "biotype": "protein_coding", "start": 100888721, "end": 100889715, "strand": "-", "slug": "ufsp1" }, { "symbol": "ACHE", "ensemblId": "ENSG00000087085", "biotype": "protein_coding", "start": 100889993, "end": 100897022, "strand": "-", "slug": "ache" }, { "symbol": "MUC3A", "ensemblId": "ENSG00000169894", "biotype": "protein_coding", "start": 100949414, "end": 100968348, "strand": "+", "slug": "muc3a" }, { "symbol": "MUC12", "ensemblId": "ENSG00000205277", "biotype": "protein_coding", "start": 100969431, "end": 101018940, "strand": "+", "slug": "muc12" }, { "symbol": "MUC17", "ensemblId": "ENSG00000169876", "biotype": "protein_coding", "start": 101020072, "end": 101058859, "strand": "+", "slug": "muc17" }, { "symbol": "TRIM56", "ensemblId": "ENSG00000169871", "biotype": "protein_coding", "start": 101085234, "end": 101097967, "strand": "+", "slug": "trim56" }, { "symbol": "SERPINE1", "ensemblId": "ENSG00000106366", "biotype": "protein_coding", "start": 101122158, "end": 101139263, "strand": "+", "slug": "serpine1" }, { "symbol": "AP1S1", "ensemblId": "ENSG00000106367", "biotype": "protein_coding", "start": 101154352, "end": 101161596, "strand": "+", "slug": "ap1s1" }, { "symbol": "VGF", "ensemblId": "ENSG00000128564", "biotype": "protein_coding", "start": 101162509, "end": 101167245, "strand": "-", "slug": "vgf" }, { "symbol": "NAT16", "ensemblId": "ENSG00000167011", "biotype": "protein_coding", "start": 101170496, "end": 101180301, "strand": "-", "slug": "nat16" }, { "symbol": "MOGAT3", "ensemblId": "ENSG00000106384", "biotype": "protein_coding", "start": 101195007, "end": 101201088, "strand": "-", "slug": "mogat3" }, { "symbol": "PLOD3", "ensemblId": "ENSG00000106397", "biotype": "protein_coding", "start": 101205977, "end": 101219968, "strand": "-", "slug": "plod3" }, { "symbol": "ZNHIT1", "ensemblId": "ENSG00000106400", "biotype": "protein_coding", "start": 101218117, "end": 101224195, "strand": "+", "slug": "znhit1" }, { "symbol": "CLDN15", "ensemblId": "ENSG00000106404", "biotype": "protein_coding", "start": 101232092, "end": 101238820, "strand": "-", "slug": "cldn15" }, { "symbol": "FIS1", "ensemblId": "ENSG00000214253", "biotype": "protein_coding", "start": 101239458, "end": 101252321, "strand": "-", "slug": "fis1" }, { "symbol": "IFT22", "ensemblId": "ENSG00000128581", "biotype": "protein_coding", "start": 101310914, "end": 101321831, "strand": "-", "slug": "ift22" } ], "truncated": false }, "reports": [ { "slug": "hereditary-vascular-malformations", "name": "유전성 혈관 기형", "diseases": [ { "mondoId": "MONDO:0700080", "name": "EPHB4 관련 혈관 기형 스펙트럼", "genes": 1, "inheritance": "autosomal-dominant", "description": "EPHB4 변이로 발생하는 다양한 혈관 및 림프관 기형으로, 피부의 모세혈관 반점에서 동정맥 기형까지 포함합니다.", "management": null, "evidence": { "gencc": [ "Ambry Genetics", "ClinGen", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "clingen": "Definitive", "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false }, { "mondoId": "MONDO:0012016", "name": "모세혈관 기형-동정맥 기형 증후군", "genes": 2, "inheritance": "autosomal-dominant", "description": "RASA1 또는 EPHB4의 변이로 발생하며, 피부에 여러 개의 작은 분홍색에서 붉은색 반점이 나타나고 일부에서는 뇌, 척추 또는 사지에 빠른 혈류를 보이는 동정맥 기형이 생기는 질환입니다.", "management": "이를 알고 있으면 뇌 및 척추 영상 검사와 가족 선별 검사에 도움이 됩니다.", "evidence": { "gencc": [ "Ambry Genetics", "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/hereditary-vascular-malformations" }, { "slug": "primary-lymphoedema-lymphatic-malformations", "name": "원발성 림프부종 및 림프관 기형", "diseases": [ { "mondoId": "MONDO:0015009", "name": "림프관 기형 7형", "genes": 1, "inheritance": "autosomal-dominant", "description": "EPHB4의 변이로 발생하며, 출생 전 체액이 축적되는 태아 수종이나 심장 상부 방실 사이의 구멍(심방중격결손)을 일으킬 수 있습니다.", "management": null, "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/primary-lymphoedema-lymphatic-malformations" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abdominal-distention", "name": "Abdominal bloating", "systems": [ "abnormality-of-the-digestive-system" ], "url": "https://dantelabs.com/traits/abdominal-distention" }, { "slug": "abnormal-cerebral-vascular-morphology", "name": "Abnormality of the cerebral blood vessels", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-cerebral-vascular-morphology" }, { "slug": "absence-of-lymph-node-germinal-center", "name": "Absence of lymph node germinal center", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/absence-of-lymph-node-germinal-center" }, { "slug": "ascites", "name": "Accumulation of fluid in the abdomen", "systems": [ "abnormality-of-the-digestive-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/ascites" }, { "slug": "atrial-septal-defect", "name": "An opening in the wall separating the top two chambers of the heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atrial-septal-defect" }, { "slug": "vascular-dilatation", "name": "Aneurysm", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/vascular-dilatation" }, { "slug": "angiosarcoma", "name": "Angiosarcoma", "systems": [ "neoplasm" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/angiosarcoma" }, { "slug": "atypical-scarring-of-skin", "name": "Atypical scarring of skin", "systems": [ "abnormality-of-the-integument", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atypical-scarring-of-skin" }, { "slug": "cellulitis", "name": "Bacterial infection of skin", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cellulitis" }, { "slug": "respiratory-distress", "name": "Breathing difficulties", "systems": [ "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/respiratory-distress" }, { "slug": "capillary-malformation", "name": "Capillary malformation", "systems": [ "abnormality-of-the-integument" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/capillary-malformation" }, { "slug": "chylothorax", "name": "Chylothorax", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/chylothorax" }, { "slug": "cobblestone-like-hyperkeratosis", "name": "Cobblestone-like hyperkeratosis", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cobblestone-like-hyperkeratosis" }, { "slug": "edema-of-the-dorsum-of-hands", "name": "Edema of the dorsum of hands", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/edema-of-the-dorsum-of-hands" }, { "slug": "pulmonary-edema", "name": "Excess fluid in lungs", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-respiratory-system" ], "url": "https://dantelabs.com/traits/pulmonary-edema" }, { "slug": "facial-edema", "name": "Facial puffiness", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/facial-edema" }, { "slug": "pedal-edema", "name": "Fluid accumulation in lower limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pedal-edema" }, { "slug": "pericardial-effusion", "name": "Fluid around heart", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/pericardial-effusion" }, { "slug": "pleural-effusion", "name": "Fluid around lungs", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-respiratory-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/pleural-effusion" }, { "slug": "edema", "name": "Fluid retention", "systems": [ "abnormality-of-metabolism-homeostasis" ], "url": "https://dantelabs.com/traits/edema" }, { "slug": "increased-nuchal-translucency", "name": "Increased nuchal translucency", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-metabolism-homeostasis", "abnormality-of-prenatal-development-or-birth" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/increased-nuchal-translucency" }, { "slug": "laryngeal-edema", "name": "Laryngeal edema", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-the-respiratory-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/laryngeal-edema" }, { "slug": "anemia", "name": "Low number of red blood cells or hemoglobin", "systems": [ "abnormality-of-blood-and-blood-forming-tissues" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/anemia" }, { "slug": "nonimmune-hydrops-fetalis", "name": "Nonimmune hydrops fetalis", "systems": [ "abnormality-of-metabolism-homeostasis", "abnormality-of-prenatal-development-or-birth" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nonimmune-hydrops-fetalis" }, { "slug": "skin-ulcer", "name": "Open skin sore", "systems": [ "abnormality-of-the-integument" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/skin-ulcer" }, { "slug": "periorbital-edema", "name": "Periorbital edema", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/periorbital-edema" }, { "slug": "peripheral-arteriovenous-fistula", "name": "Peripheral arteriovenous fistula", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/peripheral-arteriovenous-fistula" }, { "slug": "peripheral-edema", "name": "Peripheral edema", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripheral-edema" }, { "slug": "predominantly-lower-limb-lymphedema", "name": "Predominantly lower limb lymphedema", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/predominantly-lower-limb-lymphedema" }, { "slug": "recurrent-bacterial-skin-infections", "name": "Recurrent bacterial skin infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-bacterial-skin-infections" }, { "slug": "recurrent-skin-infections", "name": "Recurrent skin infections", "systems": [ "abnormality-of-the-immune-system", "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/recurrent-skin-infections" }, { "slug": "skin-dimple", "name": "Skin dimple", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skin-dimple" }, { "slug": "skin-erosion", "name": "Skin erosion", "systems": [ "abnormality-of-the-integument" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/skin-erosion" }, { "slug": "lymph-node-hypoplasia", "name": "Small lymph nodes", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-immune-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/lymph-node-hypoplasia" }, { "slug": "telangiectasia", "name": "Spider veins", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-integument" ], "url": "https://dantelabs.com/traits/telangiectasia" }, { "slug": "lymphedema", "name": "Swelling caused by excess lymph fluid under skin", "systems": [ "abnormality-of-metabolism-homeostasis" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/lymphedema" }, { "slug": "varicose-veins", "name": "Varicose veins", "systems": [ "abnormality-of-the-cardiovascular-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/varicose-veins" }, { "slug": "vein-of-galen-aneurysmal-malformation", "name": "Vein of Galen aneurysmal malformation", "systems": [ "abnormality-of-the-cardiovascular-system", "abnormality-of-the-nervous-system" ], "frequency": "very-rare", "url": "https://dantelabs.com/traits/vein-of-galen-aneurysmal-malformation" } ], "related": [ { "slug": "rasa1", "symbol": "RASA1", "name": "RAS p21 protein activator 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/rasa1" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }