{ "url": "https://dantelabs.com/de/genes/tubb4b", "gene": { "slug": "tubb4b", "symbol": "TUBB4B", "name": "tubulin beta 4B class IVb", "hgnc": "HGNC:20771", "summary": null, "location": "9q34.3", "locusType": "gene with protein product", "aliases": [ "Beta2" ], "previousSymbols": [ "TUBB2C" ], "ensemblId": "ENSG00000188229", "entrezId": 10383, "omim": [ "602660" ], "uniprot": [ "P68371" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "9", "start": 137241287, "end": 137243707, "strand": "+", "ensemblTranscript": "ENST00000340384.5", "refseqTranscript": "NM_006088.6", "ensemblProtein": "ENSP00000341289.4", "refseqProtein": "NP_006079.1", "exons": [ { "start": 137241287, "end": 137241417 }, { "start": 137241721, "end": 137241829 }, { "start": 137241911, "end": 137242021 }, { "start": 137242496, "end": 137243707 } ], "cds": { "start": 137241361, "end": 137243556 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "9", "start": 140135665, "end": 140138159, "strand": "+" }, "neighbourhood": { "release": "116", "start": 136742497, "end": 137742496, "genes": [ { "symbol": "LCN10", "ensemblId": "ENSG00000187922", "biotype": "protein_coding", "start": 136738167, "end": 136743356, "strand": "-", "slug": "lcn10" }, { "symbol": "", "ensemblId": "ENSG00000204003", "biotype": "protein_coding", "start": 136738167, "end": 136748453, "strand": "-" }, { "symbol": "LCN6", "ensemblId": "ENSG00000267206", "biotype": "protein_coding", "start": 136744017, "end": 136748531, "strand": "-", "slug": "lcn6" }, { "symbol": "LCN8", "ensemblId": "ENSG00000204001", "biotype": "protein_coding", "start": 136754386, "end": 136758543, "strand": "-", "slug": "lcn8" }, { "symbol": "LCN15", "ensemblId": "ENSG00000177984", "biotype": "protein_coding", "start": 136759634, "end": 136766255, "strand": "-", "slug": "lcn15" }, { "symbol": "TMEM141", "ensemblId": "ENSG00000244187", "biotype": "protein_coding", "start": 136791303, "end": 136793317, "strand": "+", "slug": "tmem141" }, { "symbol": "", "ensemblId": "ENSG00000272896", "biotype": "protein_coding", "start": 136791379, "end": 136800595, "strand": "+" }, { "symbol": "CCDC183", "ensemblId": "ENSG00000213213", "biotype": "protein_coding", "start": 136796338, "end": 136807741, "strand": "+", "slug": "ccdc183" }, { "symbol": "RABL6", "ensemblId": "ENSG00000196642", "biotype": "protein_coding", "start": 136807848, "end": 136841187, "strand": "+", "slug": "rabl6" }, { "symbol": "AJM1", "ensemblId": "ENSG00000232434", "biotype": "protein_coding", "start": 136842478, "end": 136848801, "strand": "+", "slug": "ajm1" }, { "symbol": "PHPT1", "ensemblId": "ENSG00000054148", "biotype": "protein_coding", "start": 136847994, "end": 136851043, "strand": "+", "slug": "phpt1" }, { "symbol": "MAMDC4", "ensemblId": "ENSG00000177943", "biotype": "protein_coding", "start": 136850943, "end": 136860802, "strand": "+", "slug": "mamdc4" }, { "symbol": "EDF1", "ensemblId": "ENSG00000107223", "biotype": "protein_coding", "start": 136862113, "end": 136866343, "strand": "-", "slug": "edf1" }, { "symbol": "TRAF2", "ensemblId": "ENSG00000127191", "biotype": "protein_coding", "start": 136881903, "end": 136929221, "strand": "+", "slug": "traf2" }, { "symbol": "FBXW5", "ensemblId": "ENSG00000159069", "biotype": "protein_coding", "start": 136938431, "end": 136950122, "strand": "-", "slug": "fbxw5" }, { "symbol": "C8G", "ensemblId": "ENSG00000176919", "biotype": "protein_coding", "start": 136942532, "end": 136946980, "strand": "+", "slug": "c8g" }, { "symbol": "LCN12", "ensemblId": "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" }, { "symbol": "SSNA1", "ensemblId": "ENSG00000176101", "biotype": "protein_coding", "start": 137188640, "end": 137190371, "strand": "+", "slug": "ssna1" }, { "symbol": "TPRN", "ensemblId": "ENSG00000176058", "biotype": "protein_coding", "start": 137191617, "end": 137204193, "strand": "-", "slug": "tprn" }, { "symbol": "TMEM203", "ensemblId": "ENSG00000187713", "biotype": "protein_coding", "start": 137204082, "end": 137205648, "strand": "-", "slug": "tmem203" }, { "symbol": "NDOR1", "ensemblId": "ENSG00000188566", "biotype": "protein_coding", "start": 137205662, "end": 137219371, "strand": "+", "slug": "ndor1" }, { "symbol": "RNF229", "ensemblId": "ENSG00000284976", "biotype": "protein_coding", "start": 137217494, "end": 137219361, "strand": "+", "slug": "rnf229" }, { "symbol": "RNF208", "ensemblId": "ENSG00000212864", "biotype": "protein_coding", "start": 137219577, "end": 137222312, "strand": "-", "slug": "rnf208" }, { "symbol": "CYSRT1", "ensemblId": "ENSG00000197191", "biotype": "protein_coding", "start": 137225174, "end": 137226315, "strand": "+", "slug": "cysrt1" }, { "symbol": "RNF224", "ensemblId": "ENSG00000233198", "biotype": "protein_coding", "start": 137226908, "end": 137229640, "strand": "+", "slug": "rnf224" }, { "symbol": "SLC34A3", "ensemblId": "ENSG00000198569", "biotype": "protein_coding", "start": 137230757, "end": 137236555, "strand": "+", "slug": "slc34a3" }, { "symbol": "CIMIP2A", "ensemblId": "ENSG00000188163", "biotype": "protein_coding", "start": 137243584, "end": 137247770, "strand": "-", "slug": "cimip2a" }, { "symbol": "STPG3", "ensemblId": "ENSG00000197768", "biotype": "protein_coding", "start": 137250608, "end": 137253483, "strand": "+", "slug": "stpg3" }, { "symbol": "NELFB", "ensemblId": "ENSG00000188986", "biotype": "protein_coding", "start": 137255210, "end": 137273542, "strand": "+", "slug": "nelfb" }, { "symbol": "TOR4A", "ensemblId": "ENSG00000198113", "biotype": "protein_coding", "start": 137274854, "end": 137282641, "strand": "+", "slug": "tor4a" }, { "symbol": "NRARP", "ensemblId": "ENSG00000198435", "biotype": "protein_coding", "start": 137299631, "end": 137302271, "strand": "-", "slug": "nrarp" }, { "symbol": "EXD3", "ensemblId": "ENSG00000187609", "biotype": "protein_coding", "start": 137306894, "end": 137423911, "strand": "-", "slug": "exd3" }, { "symbol": "NOXA1", "ensemblId": "ENSG00000188747", "biotype": "protein_coding", "start": 137422752, "end": 137434451, "strand": "+", "slug": "noxa1" }, { "symbol": "ENTPD8", "ensemblId": "ENSG00000188833", "biotype": "protein_coding", "start": 137434362, "end": 137441881, "strand": "-", "slug": "entpd8" }, { "symbol": "NSMF", "ensemblId": "ENSG00000165802", "biotype": "protein_coding", "start": 137447570, "end": 137459576, "strand": "-", "slug": "nsmf" }, { "symbol": "PNPLA7", "ensemblId": "ENSG00000130653", "biotype": "protein_coding", "start": 137459952, "end": 137550560, "strand": "-", "slug": "pnpla7" }, { "symbol": "MRPL41", "ensemblId": "ENSG00000182154", "biotype": "protein_coding", "start": 137550424, "end": 137552555, "strand": "+", "slug": "mrpl41" }, { "symbol": "DPH7", "ensemblId": "ENSG00000148399", "biotype": "protein_coding", "start": 137554436, "end": 137578936, "strand": "-", "slug": "dph7" }, { "symbol": "ZMYND19", "ensemblId": "ENSG00000165724", "biotype": "protein_coding", "start": 137582066, "end": 137590520, "strand": "-", "slug": "zmynd19" }, { "symbol": "ARRDC1", "ensemblId": "ENSG00000197070", "biotype": "protein_coding", "start": 137605619, "end": 137617859, "strand": "+", "slug": "arrdc1" }, { "symbol": "EHMT1", "ensemblId": "ENSG00000181090", "biotype": "protein_coding", "start": 137618901, "end": 137870016, "strand": "+", "slug": "ehmt1" } ], "truncated": false }, "reports": [ { "slug": "leber-congenital-amaurosis", "name": "Leber-Kongenitale Amaurose & RPE65-bedingte Retinopathie", "diseases": [ { "mondoId": "MONDO:0018998", "name": "Leber-kongenitale Amaurose", "genes": 21, "inheritance": "autosomal-recessive", "description": "Eine Gruppe erblicher Netzhautdystrophien, verursacht durch Veränderungen in Genen wie CEP290, GUCY2D, CRB1, RPE65 und AIPL1, die im Säuglingsalter zu schwerem Sehverlust, Nystagmus und eingeschränkten Pupillenreaktionen führen.", "management": "Die Bestätigung des Gens kann über die Eignung für genspezifische Behandlungen und klinische Studien entscheiden und dient der genetischen Beratung der Familie.", "evidence": { "gencc": [ "Labcorp Genetics (formerly Invitae)" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/de/conditions/leber-congenital-amaurosis" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-electroretinogram", "name": "Abnormal electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-electroretinogram" }, { "slug": "abnormal-full-field-electroretinogram", "name": "Abnormal full-field electroretinogram", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-full-field-electroretinogram" }, { "slug": "abnormal-optic-disc-morphology", "name": "Abnormal optic disc morphology", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-optic-disc-morphology" }, { "slug": "abnormal-retinal-pigmentation", "name": "Abnormal retinal pigmentation", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormal-retinal-pigmentation" }, { "slug": "abnormality-of-neuronal-migration", "name": "Abnormality of neuronal migration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormality-of-neuronal-migration" }, { "slug": "aplasia-hypoplasia-of-the-cerebellar-vermis", "name": "Aplasia/Hypoplasia of the cerebellar vermis", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/aplasia-hypoplasia-of-the-cerebellar-vermis" }, { "slug": "autistic-behavior", "name": "Autism spectrum disorder", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/autistic-behavior" }, { "slug": "keratoconus", "name": "Bulging cornea", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/keratoconus" }, { "slug": "cataract", "name": "Clouding of the lens of the eye", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cataract" }, { "slug": "reduced-visual-acuity", "name": "Decreased clarity of vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/reduced-visual-acuity" }, { "slug": "encephalocele", "name": "Encephalocele", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/encephalocele" }, { "slug": "seizure", "name": "Epilepsy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/seizure" }, { "slug": "photophobia", "name": "Extreme sensitivity of the eyes to light", "systems": [ "abnormality-of-the-eye", "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/photophobia" }, { "slug": "eye-poking", "name": "Eye poking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/eye-poking" }, { "slug": "hypermetropia", "name": "Farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypermetropia" }, { "slug": "global-developmental-delay", "name": "Global developmental delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/global-developmental-delay" }, { "slug": "hearing-impairment", "name": "Hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hearing-impairment" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "hypotonia", "name": "Low muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypotonia" }, { "slug": "severely-reduced-visual-acuity", "name": "Marked vision impairment", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/severely-reduced-visual-acuity" }, { "slug": "motor-delay", "name": "Motor delay", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/motor-delay" }, { "slug": "optic-disc-drusen", "name": "Optic disc drusen", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-disc-drusen" }, { "slug": "optic-disc-pallor", "name": "Optic disc pallor", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/optic-disc-pallor" }, { "slug": "hemiplegia-hemiparesis", "name": "Paralysis or weakness of one side of body", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hemiplegia-hemiparesis" }, { "slug": "peripapillary-atrophy", "name": "Peripapillary atrophy", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/peripapillary-atrophy" }, { "slug": "retinal-degeneration", "name": "Retina degeneration", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/retinal-degeneration" }, { "slug": "retinal-pigment-epithelial-mottling", "name": "Retinal pigment epithelial mottling", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/retinal-pigment-epithelial-mottling" }, { "slug": "sensorineural-hearing-impairment", "name": "Sensorineural hearing impairment", "systems": [ "abnormality-of-the-ear" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/sensorineural-hearing-impairment" }, { "slug": "high-hypermetropia", "name": "Severe farsightedness", "systems": [ "abnormality-of-the-eye" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/high-hypermetropia" }, { "slug": "slow-pupillary-light-response", "name": "Slow pupillary light response", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/slow-pupillary-light-response" } ], "related": [ { "slug": "aipl1", "symbol": "AIPL1", "name": "AIP like 1 HSP90 co-chaperone", "shared": 1, "url": "https://dantelabs.com/de/genes/aipl1" }, { "slug": "cct2", "symbol": "CCT2", "name": "chaperonin containing TCP1 subunit 2", "shared": 1, "url": "https://dantelabs.com/de/genes/cct2" }, { "slug": "cep290", "symbol": "CEP290", "name": "centrosomal protein 290", "shared": 1, "url": "https://dantelabs.com/de/genes/cep290" }, { "slug": "crb1", "symbol": "CRB1", "name": "crumbs cell polarity complex component 1", "shared": 1, "url": "https://dantelabs.com/de/genes/crb1" }, { "slug": "crx", "symbol": "CRX", "name": "cone-rod homeobox", "shared": 1, "url": "https://dantelabs.com/de/genes/crx" }, { "slug": "gucy2d", "symbol": "GUCY2D", "name": "guanylate cyclase 2D, retinal", "shared": 1, "url": "https://dantelabs.com/de/genes/gucy2d" }, { "slug": "impdh1", "symbol": "IMPDH1", "name": "inosine monophosphate dehydrogenase 1", "shared": 1, "url": "https://dantelabs.com/de/genes/impdh1" }, { "slug": "kcnj13", "symbol": "KCNJ13", "name": "potassium inwardly rectifying channel subfamily J member 13", "shared": 1, "url": "https://dantelabs.com/de/genes/kcnj13" }, { "slug": "lca5", "symbol": "LCA5", "name": "lebercilin LCA5", "shared": 1, "url": "https://dantelabs.com/de/genes/lca5" }, { "slug": "lrat", "symbol": "LRAT", "name": "lecithin retinol acyltransferase", "shared": 1, "url": "https://dantelabs.com/de/genes/lrat" }, { "slug": "nmnat1", "symbol": "NMNAT1", "name": "nicotinamide nucleotide adenylyltransferase 1", "shared": 1, "url": "https://dantelabs.com/de/genes/nmnat1" }, { "slug": "prph2", "symbol": "PRPH2", "name": "peripherin 2", "shared": 1, "url": "https://dantelabs.com/de/genes/prph2" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }