{ "url": "https://dantelabs.com/es/genes/tmem240", "gene": { "slug": "tmem240", "symbol": "TMEM240", "name": "transmembrane protein 240", "hgnc": "HGNC:25186", "summary": null, "location": "1p36.33", "locusType": "gene with protein product", "aliases": [], "previousSymbols": [ "C1orf70", "SCA21" ], "ensemblId": "ENSG00000205090", "entrezId": 339453, "omim": [ "616101" ], "uniprot": [ "Q5SV17" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "1", "start": 1534778, "end": 1540624, "strand": "-", "ensemblTranscript": "ENST00000378733.9", "refseqTranscript": "NM_001114748.2", "ensemblProtein": "ENSP00000368007.4", "refseqProtein": "NP_001108220.1", "exons": [ { "start": 1534778, "end": 1535507 }, { "start": 1535589, "end": 1535797 }, { "start": 1539684, "end": 1539790 }, { "start": 1540290, "end": 1540624 } ], "cds": { "start": 1535359, "end": 1540346 } }, "grch37": { "build": "GRCh37", "release": "87", "chrom": "1", "start": 1470554, "end": 1475833, "strand": "-" }, 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{ "symbol": "SDF4", "ensemblId": "ENSG00000078808", "biotype": "protein_coding", "start": 1216887, "end": 1240964, "strand": "-", "slug": "sdf4" }, { "symbol": "B3GALT6", "ensemblId": "ENSG00000176022", "biotype": "protein_coding", "start": 1232237, "end": 1235041, "strand": "+", "slug": "b3galt6" }, { "symbol": "C1QTNF12", "ensemblId": "ENSG00000184163", "biotype": "protein_coding", "start": 1242446, "end": 1246934, "strand": "-", "slug": "c1qtnf12" }, { "symbol": "UBE2J2", "ensemblId": "ENSG00000160087", "biotype": "protein_coding", "start": 1253907, "end": 1274477, "strand": "-", "slug": "ube2j2" }, { "symbol": "SCNN1D", "ensemblId": "ENSG00000162572", "biotype": "protein_coding", "start": 1280436, "end": 1292029, "strand": "+", "slug": "scnn1d" }, { "symbol": "ACAP3", "ensemblId": "ENSG00000131584", "biotype": "protein_coding", "start": 1292376, "end": 1309609, "strand": "-", "slug": "acap3" }, { "symbol": "PUSL1", "ensemblId": "ENSG00000169972", "biotype": "protein_coding", "start": 1308547, "end": 1311679, "strand": "+", "slug": "pusl1" }, { "symbol": "INTS11", "ensemblId": "ENSG00000127054", "biotype": "protein_coding", "start": 1311585, "end": 1324688, "strand": "-", "slug": "ints11" }, { "symbol": "CPTP", "ensemblId": "ENSG00000224051", "biotype": "protein_coding", "start": 1324756, "end": 1328897, "strand": "+", "slug": "cptp" }, { "symbol": "TAS1R3", "ensemblId": "ENSG00000169962", "biotype": "protein_coding", "start": 1331275, "end": 1335314, "strand": "+", "slug": "tas1r3" }, { "symbol": "DVL1", "ensemblId": "ENSG00000107404", "biotype": "protein_coding", "start": 1335275, "end": 1349962, "strand": "-", "slug": "dvl1" }, { "symbol": "MXRA8", "ensemblId": "ENSG00000162576", "biotype": "protein_coding", "start": 1352683, "end": 1361800, "strand": "-", "slug": "mxra8" }, { "symbol": "AURKAIP1", "ensemblId": "ENSG00000175756", "biotype": "protein_coding", "start": 1373710, "end": 1375521, "strand": "-", "slug": "aurkaip1" }, { "symbol": "CCNL2", "ensemblId": "ENSG00000221978", "biotype": "protein_coding", "start": 1385709, "end": 1400909, "strand": "-", "slug": "ccnl2" }, { "symbol": "MRPL20", "ensemblId": "ENSG00000242485", "biotype": "protein_coding", "start": 1401907, "end": 1407306, "strand": "-", "slug": "mrpl20" }, { "symbol": "ANKRD65", "ensemblId": "ENSG00000235098", "biotype": "protein_coding", "start": 1415637, "end": 1421769, "strand": "-", "slug": "ankrd65" }, { "symbol": "TMEM278", "ensemblId": "ENSG00000205116", "biotype": "protein_coding", "start": 1425871, "end": 1430255, "strand": "+", "slug": "tmem278" }, { "symbol": "VWA1", "ensemblId": "ENSG00000179403", "biotype": "protein_coding", "start": 1434861, "end": 1446012, "strand": "+", "slug": "vwa1" }, { "symbol": "ATAD3C", "ensemblId": "ENSG00000215915", "biotype": "protein_coding", "start": 1449689, "end": 1470163, "strand": "+", "slug": "atad3c" }, { "symbol": "ATAD3B", "ensemblId": "ENSG00000160072", "biotype": "protein_coding", "start": 1471742, "end": 1497848, "strand": "+", "slug": "atad3b" }, { "symbol": "ATAD3A", "ensemblId": "ENSG00000197785", "biotype": "protein_coding", "start": 1512118, "end": 1534689, "strand": "+", "slug": "atad3a" }, { "symbol": "SSU72", "ensemblId": "ENSG00000160075", "biotype": "protein_coding", "start": 1541673, "end": 1574887, "strand": "-", "slug": "ssu72" }, { "symbol": "FNDC10", "ensemblId": "ENSG00000228594", "biotype": "protein_coding", "start": 1598012, "end": 1600135, "strand": "-", "slug": "fndc10" }, { "symbol": "MIB2", "ensemblId": "ENSG00000197530", "biotype": "protein_coding", "start": 1615433, "end": 1630610, "strand": "+", "slug": "mib2" }, { "symbol": "MMP23B", "ensemblId": "ENSG00000189409", "biotype": "protein_coding", "start": 1631660, "end": 1635263, "strand": "+", "slug": "mmp23b" }, { "symbol": "CDK11B", "ensemblId": "ENSG00000248333", "biotype": "protein_coding", "start": 1635225, "end": 1659267, "strand": "-", "slug": "cdk11b" }, { "symbol": "SLC35E2B", "ensemblId": "ENSG00000189339", "biotype": "protein_coding", "start": 1659529, "end": 1693059, "strand": "-", "slug": "slc35e2b" }, { "symbol": "CDK11A", "ensemblId": "ENSG00000008128", "biotype": "protein_coding", "start": 1702379, "end": 1724571, "strand": "-", "slug": "cdk11a" }, { "symbol": "NADK", "ensemblId": "ENSG00000008130", "biotype": "protein_coding", "start": 1751232, "end": 1780544, "strand": "-", "slug": "nadk" }, { "symbol": "GNB1", "ensemblId": "ENSG00000078369", "biotype": "protein_coding", "start": 1785285, "end": 1892292, "strand": "-", "slug": "gnb1" }, { "symbol": "CALML6", "ensemblId": "ENSG00000169885", "biotype": "protein_coding", "start": 1915081, "end": 1917296, "strand": "+", "slug": "calml6" }, { "symbol": "TMEM52", "ensemblId": "ENSG00000178821", "biotype": "protein_coding", "start": 1917589, "end": 1919329, "strand": "-", "slug": "tmem52" }, { "symbol": "CFAP74", "ensemblId": "ENSG00000142609", "biotype": "protein_coding", "start": 1921951, "end": 2003837, "strand": "-", "slug": "cfap74" }, { "symbol": "GABRD", "ensemblId": "ENSG00000187730", "biotype": "protein_coding", "start": 2019305, "end": 2030758, "strand": "+", "slug": "gabrd" } ], "truncated": false }, "reports": [ { "slug": "autosomal-dominant-cerebellar-ataxias", "name": "Ataxias cerebelosas autosómicas dominantes (SCA y DRPLA)", "diseases": [ { "mondoId": "MONDO:0020380", "name": "Ataxia cerebelosa autosómica dominante", "genes": 36, "inheritance": "autosomal-dominant", "description": "Grupo de ataxias de herencia dominante, entre ellas SCA1, SCA2, SCA3 (enfermedad de Machado-Joseph), SCA6, SCA7, SCA17, SCA27B y DRPLA, causadas por expansiones de repeticiones o variantes puntuales en genes como ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, ATN1 y FGF14.", "management": "Asesoramiento genético y pruebas presintomáticas para familiares, fisioterapia y manejo de los síntomas; algunas formas, como SCA27B, pueden responder a un tratamiento farmacológico específico.", "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/es/conditions/autosomal-dominant-cerebellar-ataxias" }, { "slug": "inherited-neurodegenerative-disorders-selected-genes", "name": "Trastornos neurodegenerativos hereditarios", "diseases": [ { "mondoId": "MONDO:0024237", "name": "Trastorno neurodegenerativo relacionado con KIF5A", "genes": 372, "inheritance": "autosomal-dominant", "description": "Causado por cambios en una copia de KIF5A, gen que codifica una proteína motora con una cola de unión a carga. Distintos tipos de cambio dan lugar a diferentes afecciones: paraplejía espástica hereditaria tipo 10, una forma axonal de la enfermedad de Charcot-Marie-Tooth y esclerosis lateral amiotrófica (ELA).", "management": "El tratamiento es sintomático y depende de la presentación, e incluye fisioterapia, medicamentos antiespásticos y atención multidisciplinar para la ELA. Cada hijo de una persona afectada tiene una probabilidad de 1 entre 2 de heredar el cambio; el asesoramiento genético ayuda a las familias a comprender esto.", "evidence": { "gencc": [ "G2P", "Genomics England PanelApp", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": true } ], "url": "https://dantelabs.com/es/conditions/inherited-neurodegenerative-disorders-selected-genes" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormality-of-extrapyramidal-motor-function", "name": "Abnormality of extrapyramidal motor function", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/abnormality-of-extrapyramidal-motor-function" }, { "slug": "aggressive-behavior", "name": "Aggressive behavior", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/aggressive-behavior" }, { "slug": "akinesia", "name": "Akinesia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/akinesia" }, { "slug": "ataxia", "name": "Ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/ataxia" }, { "slug": "atypical-behavior", "name": "Behavioral abnormality", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/atypical-behavior" }, { "slug": "cerebellar-vermis-atrophy", "name": "Cerebellar vermis atrophy", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-vermis-atrophy" }, { "slug": "cognitive-impairment", "name": "Cognitive impairment", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "cogwheel-rigidity", "name": "Cogwheel rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "url": "https://dantelabs.com/traits/cogwheel-rigidity" }, { "slug": "strabismus", "name": "Cross-eyed", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/strabismus" }, { "slug": "hyporeflexia", "name": "Decreased reflex response", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyporeflexia" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "delayed-cns-myelination", "name": "Delayed CNS myelination", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/delayed-cns-myelination" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "diplopia", "name": "Double vision", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/diplopia" }, { "slug": "dysgraphia", "name": "Dysgraphia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/dysgraphia" }, { "slug": "dystonia", "name": "Dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dystonia" }, { "slug": "scanning-speech", "name": "Explosive speech", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/scanning-speech" }, { "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": "hypermetric-saccades", "name": "Hypermetric saccades", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/hypermetric-saccades" }, { "slug": "impulsivity", "name": "Impulsivity", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/impulsivity" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "obligate", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "intellectual-disability", "name": "Intellectual disability", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intellectual-disability" }, { "slug": "intention-tremor", "name": "Intention tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/intention-tremor" }, { "slug": "intermittent-microsaccadic-pursuits", "name": "Intermittent microsaccadic pursuits", "systems": [ "abnormality-of-the-eye" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/intermittent-microsaccadic-pursuits" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "apathy", "name": "Lack of feeling, emotion, interest", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/apathy" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "microsaccadic-pursuit", "name": "Microsaccadic pursuit", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/microsaccadic-pursuit" }, { "slug": "opsoclonus", "name": "Opsoclonus", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/opsoclonus" }, { "slug": "parkinsonism", "name": "Parkinsonism", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/parkinsonism" }, { "slug": "postural-tremor", "name": "Postural tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/postural-tremor" }, { "slug": "progressive-cerebellar-ataxia", "name": "Progressive cerebellar ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "slow-saccadic-eye-movements", "name": "Slow eye movements", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/slow-saccadic-eye-movements" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/tremor" } ], "related": [ { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 2, "url": "https://dantelabs.com/es/genes/afg3l2" }, { "slug": "atn1", "symbol": "ATN1", "name": "atrophin 1", "shared": 2, "url": "https://dantelabs.com/es/genes/atn1" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 2, "url": "https://dantelabs.com/es/genes/atp1a3" }, { "slug": "atxn1", "symbol": "ATXN1", "name": "ataxin 1", "shared": 2, "url": "https://dantelabs.com/es/genes/atxn1" }, { "slug": "atxn10", "symbol": "ATXN10", "name": "ataxin 10", "shared": 2, "url": "https://dantelabs.com/es/genes/atxn10" }, { "slug": "atxn2", "symbol": "ATXN2", "name": "ataxin 2", "shared": 2, "url": "https://dantelabs.com/es/genes/atxn2" }, { "slug": "atxn3", "symbol": "ATXN3", "name": "ataxin 3", "shared": 2, "url": "https://dantelabs.com/es/genes/atxn3" }, { "slug": "atxn7", "symbol": "ATXN7", "name": "ataxin 7", "shared": 2, "url": "https://dantelabs.com/es/genes/atxn7" }, { "slug": "bean1", "symbol": "BEAN1", "name": "brain expressed associated with NEDD4 1", "shared": 2, "url": "https://dantelabs.com/es/genes/bean1" }, { "slug": "cacna1a", "symbol": "CACNA1A", "name": "calcium voltage-gated channel subunit alpha1 A", "shared": 2, "url": "https://dantelabs.com/es/genes/cacna1a" }, { "slug": "cacna1g", "symbol": "CACNA1G", "name": "calcium voltage-gated channel subunit alpha1 G", "shared": 2, "url": "https://dantelabs.com/es/genes/cacna1g" }, { "slug": "camta1", "symbol": "CAMTA1", "name": "calmodulin binding transcription activator 1", "shared": 2, "url": "https://dantelabs.com/es/genes/camta1" } ], "sources": { "bundleId": "2026.10.18-8b139e39", "panel": "2026-10-18", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }