{ "url": "https://dantelabs.com/ko/genes/prkcg", "gene": { "slug": "prkcg", "symbol": "PRKCG", "name": "protein kinase C gamma", "hgnc": "HGNC:9402", "summary": null, "location": "19q13.42", "locusType": "gene with protein product", "aliases": [ "PKCC", "MGC57564", "PKCγ" ], "previousSymbols": [ "PKCG", "SCA14" ], "ensemblId": "ENSG00000126583", "entrezId": 5582, "omim": [ "176980" ], "uniprot": [ "P05129" ], "model": { "build": "GRCh38", "release": "v1.5", "chrom": "19", "start": 53882197, "end": 53907652, "strand": "+", "ensemblTranscript": "ENST00000263431.4", "refseqTranscript": "NM_002739.5", "ensemblProtein": "ENSP00000263431.3", "refseqProtein": "NP_002730.1", "exons": [ { "start": 53882197, "end": 53882664 }, { "start": 53883163, "end": 53883194 }, { "start": 53884161, "end": 53884243 }, { "start": 53889638, "end": 53889749 }, { "start": 53889886, "end": 53890017 }, { "start": 53891674, "end": 53891830 }, { "start": 53892509, "end": 53892643 }, { "start": 53892988, "end": 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"ensemblId": "ENSG00000198346", "biotype": "protein_coding", "start": 53467703, "end": 53496255, "strand": "+", "slug": "znf813" }, { "symbol": "ZNF331", "ensemblId": "ENSG00000130844", "biotype": "protein_coding", "start": 53519527, "end": 53580271, "strand": "+", "slug": "znf331" }, { "symbol": "DPRX", "ensemblId": "ENSG00000204595", "biotype": "protein_coding", "start": 53600777, "end": 53637014, "strand": "+", "slug": "dprx" }, { "symbol": "NLRP12", "ensemblId": "ENSG00000142405", "biotype": "protein_coding", "start": 53792139, "end": 53824403, "strand": "-", "slug": "nlrp12" }, { "symbol": "MYADM", "ensemblId": "ENSG00000179820", "biotype": "protein_coding", "start": 53864763, "end": 53878125, "strand": "+", "slug": "myadm" }, { "symbol": "CACNG7", "ensemblId": "ENSG00000105605", "biotype": "protein_coding", "start": 53909264, "end": 53943950, "strand": "+", "slug": "cacng7" }, { "symbol": "CACNG8", "ensemblId": "ENSG00000142408", "biotype": "protein_coding", "start": 53962937, "end": 53990215, "strand": "+", "slug": "cacng8" }, { "symbol": "CACNG6", "ensemblId": "ENSG00000130433", "biotype": "protein_coding", "start": 53991605, "end": 54012670, "strand": "+", "slug": "cacng6" }, { "symbol": "VSTM1", "ensemblId": "ENSG00000189068", "biotype": "protein_coding", "start": 54040825, "end": 54063959, "strand": "-", "slug": "vstm1" }, { "symbol": "TARM1", "ensemblId": "ENSG00000248385", "biotype": "protein_coding", "start": 54069895, "end": 54081365, "strand": "-", "slug": "tarm1" }, { "symbol": "OSCAR", "ensemblId": "ENSG00000170909", "biotype": "protein_coding", "start": 54094668, "end": 54102692, "strand": "-", "slug": "oscar" }, { "symbol": "NDUFA3", "ensemblId": "ENSG00000170906", "biotype": "protein_coding", "start": 54102728, "end": 54111522, "strand": "+", "slug": "ndufa3" }, { "symbol": "TFPT", "ensemblId": "ENSG00000105619", "biotype": "protein_coding", "start": 54107015, "end": 54115666, "strand": "-", "slug": "tfpt" }, { "symbol": "PRPF31", "ensemblId": "ENSG00000105618", "biotype": "protein_coding", "start": 54115410, "end": 54131719, "strand": "+", "slug": "prpf31" }, { "symbol": "CNOT3", "ensemblId": "ENSG00000088038", "biotype": "protein_coding", "start": 54137710, "end": 54155708, "strand": "+", "slug": "cnot3" }, { "symbol": "LENG1", "ensemblId": "ENSG00000105617", "biotype": "protein_coding", "start": 54155161, "end": 54159760, "strand": "-", "slug": "leng1" }, { "symbol": "TMC4", "ensemblId": "ENSG00000167608", "biotype": "protein_coding", "start": 54160095, "end": 54173250, "strand": "-", "slug": "tmc4" }, { "symbol": "MBOAT7", "ensemblId": "ENSG00000125505", "biotype": "protein_coding", "start": 54173412, "end": 54189882, "strand": "-", "slug": "mboat7" }, { "symbol": "TSEN34", "ensemblId": "ENSG00000170892", "biotype": "protein_coding", "start": 54188464, "end": 54194538, "strand": "+", "slug": "tsen34" }, { "symbol": "RPS9", "ensemblId": "ENSG00000170889", "biotype": "protein_coding", "start": 54200466, "end": 54249003, "strand": "+", "slug": "rps9" }, { "symbol": "LILRB3", "ensemblId": "ENSG00000204577", "biotype": "protein_coding", "start": 54215940, "end": 54223506, "strand": "-", "slug": "lilrb3" }, { "symbol": "LILRA6", "ensemblId": "ENSG00000244482", "biotype": "protein_coding", "start": 54236590, "end": 54242820, "strand": "-", "slug": "lilra6" }, { "symbol": "LILRB5", "ensemblId": "ENSG00000105609", "biotype": "protein_coding", "start": 54249421, "end": 54257339, "strand": "-", "slug": "lilrb5" }, { "symbol": "LILRB2", "ensemblId": "ENSG00000131042", "biotype": "protein_coding", "start": 54273812, "end": 54281184, "strand": "-", "slug": "lilrb2" }, { "symbol": "LILRA5", "ensemblId": "ENSG00000187116", "biotype": "protein_coding", "start": 54307037, "end": 54313177, "strand": "-", "slug": "lilra5" }, { "symbol": "LILRA4", "ensemblId": "ENSG00000239961", "biotype": "protein_coding", "start": 54333185, "end": 54339162, "strand": "-", "slug": "lilra4" }, { "symbol": "LAIR1", "ensemblId": "ENSG00000167613", "biotype": "protein_coding", "start": 54351384, "end": 54370558, "strand": "-", "slug": "lair1" } ], "truncated": false }, "reports": [ { "slug": "autosomal-dominant-cerebellar-ataxias", "name": "常染色体显性小脑性共济失调(SCA及DRPLA)", "diseases": [ { "mondoId": "MONDO:0020380", "name": "常染色体显性小脑性共济失调", "genes": 36, "inheritance": "autosomal-dominant", "description": "一组常染色体显性遗传的共济失调，包括SCA1、SCA2、SCA3(马查多-约瑟夫病)、SCA6、SCA7、SCA17、SCA27B和DRPLA，由ATXN1、ATXN2、ATXN3、CACNA1A、ATXN7、TBP、ATN1和FGF14等基因中的重复序列扩增或点变异引起。", "management": "遗传咨询及为亲属提供症状前检测、物理治疗和症状管理；某些类型(如SCA27B)可能对特定药物有反应。", "evidence": { "gencc": [ "Ambry Genetics", "Labcorp Genetics (formerly Invitae)", "PanelApp Australia" ], "acmgSf": false, "inheritance": [ "autosomal-dominant" ] }, "sameAsReport": false, "broad": false } ], "url": "https://dantelabs.com/ko/conditions/autosomal-dominant-cerebellar-ataxias" } ], "pharmacogenomics": [], "traits": [], "phenotypes": [ { "slug": "abnormal-achilles-tendon-morphology", "name": "Abnormality of the Achilles tendon", "systems": [ "abnormality-of-limbs", "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/abnormal-achilles-tendon-morphology" }, { "slug": "attention-deficit-hyperactivity-disorder", "name": "Attention deficit", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/attention-deficit-hyperactivity-disorder" }, { "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": "occasional", "url": "https://dantelabs.com/traits/cognitive-impairment" }, { "slug": "cerebellar-atrophy", "name": "Degeneration of cerebellum", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/cerebellar-atrophy" }, { "slug": "depression", "name": "Depression", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/depression" }, { "slug": "dysarthria", "name": "Difficulty articulating speech", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/dysarthria" }, { "slug": "focal-dystonia", "name": "Focal dystonia", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/focal-dystonia" }, { "slug": "gaze-evoked-nystagmus", "name": "Gaze-evoked nystagmus", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/gaze-evoked-nystagmus" }, { "slug": "generalized-hypotonia", "name": "Generalized decreased muscle tone", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/generalized-hypotonia" }, { "slug": "hyporeflexia-of-lower-limbs", "name": "Hyporeflexia of lower limbs", "systems": [ "abnormality-of-limbs", "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/hyporeflexia-of-lower-limbs" }, { "slug": "impaired-vibration-sensation-at-ankles", "name": "Impaired vibration sensation at ankles", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/impaired-vibration-sensation-at-ankles" }, { "slug": "gait-ataxia", "name": "Inability to coordinate movements when walking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "very-frequent", "url": "https://dantelabs.com/traits/gait-ataxia" }, { "slug": "hyperreflexia", "name": "Increased reflexes", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/hyperreflexia" }, { "slug": "facial-myokymia", "name": "Involuntary facial quivering", "systems": [ "abnormality-of-head-or-neck", "abnormality-of-the-musculoskeletal-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/facial-myokymia" }, { "slug": "nystagmus", "name": "Involuntary, rapid, rhythmic eye movements", "systems": [ "abnormality-of-the-eye" ], "url": "https://dantelabs.com/traits/nystagmus" }, { "slug": "myoclonus", "name": "Jerking", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/myoclonus" }, { "slug": "dysmetria", "name": "Lack of coordination of movement", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysmetria" }, { "slug": "limb-ataxia", "name": "Limb ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/limb-ataxia" }, { "slug": "memory-impairment", "name": "Memory impairment", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/memory-impairment" }, { "slug": "mental-deterioration", "name": "Mental deterioration", "systems": [ "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/mental-deterioration" }, { "slug": "dysphagia", "name": "Poor swallowing", "systems": [ "abnormality-of-the-digestive-system", "abnormality-of-the-nervous-system" ], "url": "https://dantelabs.com/traits/dysphagia" }, { "slug": "progressive-cerebellar-ataxia", "name": "Progressive cerebellar ataxia", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "frequent", "url": "https://dantelabs.com/traits/progressive-cerebellar-ataxia" }, { "slug": "rigidity", "name": "Rigidity", "systems": [ "abnormality-of-the-musculoskeletal-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/rigidity" }, { "slug": "saccadic-smooth-pursuit-interruptions", "name": "Saccadic smooth pursuit interruptions", "systems": [ "abnormality-of-the-eye" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/saccadic-smooth-pursuit-interruptions" }, { "slug": "somatic-sensory-dysfunction", "name": "Somatic sensory dysfunction", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/somatic-sensory-dysfunction" }, { "slug": "tremor", "name": "Tremor", "systems": [ "abnormality-of-the-nervous-system" ], "frequency": "occasional", "url": "https://dantelabs.com/traits/tremor" } ], "related": [ { "slug": "afg3l2", "symbol": "AFG3L2", "name": "AFG3 like matrix AAA peptidase subunit 2", "shared": 1, "url": "https://dantelabs.com/ko/genes/afg3l2" }, { "slug": "atn1", "symbol": "ATN1", "name": "atrophin 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/atn1" }, { "slug": "atp1a3", "symbol": "ATP1A3", "name": "ATPase Na+/K+ transporting subunit alpha 3", "shared": 1, "url": "https://dantelabs.com/ko/genes/atp1a3" }, { "slug": "atxn1", "symbol": "ATXN1", "name": "ataxin 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/atxn1" }, { "slug": "atxn10", "symbol": "ATXN10", "name": "ataxin 10", "shared": 1, "url": "https://dantelabs.com/ko/genes/atxn10" }, { "slug": "atxn2", "symbol": "ATXN2", "name": "ataxin 2", "shared": 1, "url": "https://dantelabs.com/ko/genes/atxn2" }, { "slug": "atxn3", "symbol": "ATXN3", "name": "ataxin 3", "shared": 1, "url": "https://dantelabs.com/ko/genes/atxn3" }, { "slug": "atxn7", "symbol": "ATXN7", "name": "ataxin 7", "shared": 1, "url": "https://dantelabs.com/ko/genes/atxn7" }, { "slug": "bean1", "symbol": "BEAN1", "name": "brain expressed associated with NEDD4 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/bean1" }, { "slug": "cacna1a", "symbol": "CACNA1A", "name": "calcium voltage-gated channel subunit alpha1 A", "shared": 1, "url": "https://dantelabs.com/ko/genes/cacna1a" }, { "slug": "cacna1g", "symbol": "CACNA1G", "name": "calcium voltage-gated channel subunit alpha1 G", "shared": 1, "url": "https://dantelabs.com/ko/genes/cacna1g" }, { "slug": "camta1", "symbol": "CAMTA1", "name": "calmodulin binding transcription activator 1", "shared": 1, "url": "https://dantelabs.com/ko/genes/camta1" } ], "sources": { "bundleId": "2026.10.17-8666dff2", "panel": "2026-10-17", "acmgSf": "SF v3.2" }, "locusKind": "proteinCoding" }, "variants": { "total": 0, "url": null, "items": [] } }