{ "uniprot_canonical_ac": "P0DPK4-1", "uniprot_ac": "P0DPK4", "uniprot_id": "NT2NC_HUMAN", "mass": { "chemical_mass": 31544.0, "monoisotopic_mass": 31544.0 }, "refseq": {}, "gene_names": [ { "name": "NOTCH2NLC", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/P0DPK4", "id": "P0DPK4" } ], "protein_names": [ { "name": "Notch homolog 2 N-terminal-like protein C", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "P0DPK4" } ], "function": [ { "annotation": "Human-specific protein that promotes neural progenitor proliferation and evolutionary expansion of the brain neocortex by regulating the Notch signaling pathway (PubMed:29856954, PubMed:29856955, PubMed:29561261). Able to promote neural progenitor self-renewal, possibly by down-regulating neuronal differentiation genes, thereby delaying the differentiation of neuronal progenitors and leading to an overall final increase in neuronal production (PubMed:29856954). Acts by enhancing the Notch signaling pathway via two different mechanisms that probably work in parallel to reach the same effect (PubMed:29856954). Enhances Notch signaling pathway in a non-cell-autonomous manner via direct interaction with NOTCH2 (PubMed:29856954). Also promotes Notch signaling pathway in a cell-autonomous manner through inhibition of cis DLL1-NOTCH2 interactions, which promotes neuronal differentiation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "P0DPK4", "url": "https://www.uniprot.org/uniprot/P0DPK4#function" }, { "database": "UniProtKB", "id": "P0DPK3", "url": "https://www.uniprot.org/uniprot/P0DPK3#function" }, { "database": "PubMed", "id": "29856954", "url": "https://glygen.org/publication/PubMed/29856954" }, { "database": "PubMed", "id": "29856955", "url": "https://glygen.org/publication/PubMed/29856955" }, { "database": "PubMed", "id": "29561261", "url": "https://glygen.org/publication/PubMed/29561261" } ] } ], "disease": [ { "disease_id": "DOID:0081294", "recommended_name": { "id": "DOID:0081294", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081294", "name": "neuronal intranuclear inclusion disease", "description": "A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21." }, "synonyms": [ { "id": "MONDO:0011327", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011327", "name": "neuronal intranuclear inclusion disease", "description": "Neuronal intranuclear inclusion disease (NIID) is a very rare multisystem neurodegenerative disorder characterized by the presence of eosinophilic intranuclear inclusions in neuronal and glial cells, and neuronal loss." }, { "id": "MONDO:0011327", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011327", "name": "neuronal intranuclear inclusion disease", "description": "" }, { "id": "MONDO:0011327", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011327", "name": "Niid", "description": "" }, { "id": "MONDO:0011327", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011327", "name": "neuronal intranuclear hyaline inclusion disease", "description": "" }, { "id": "MIM:603472", "resource": "MIM", "url": "https://www.omim.org/entry/603472", "name": "Neuronal intranuclear inclusion disease", "description": "Neuronal intranuclear inclusion disease" } ], "evidence": [ { "id": "603472", "database": "MIM", "url": "https://www.omim.org/entry/603472" } ] }, { "disease_id": "DOID:0081295", "recommended_name": { "id": "DOID:0081295", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081295", "name": "essential tremor 6", "description": "An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21." }, "synonyms": [ { "id": "MONDO:0030027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030027", "name": "tremor, hereditary essential, 6", "description": "" }, { "id": "MONDO:0030027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030027", "name": "ETM6", "description": "" }, { "id": "MONDO:0030027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030027", "name": "TREMOR, HEREDITARY ESSENTIAL, 6", "description": "" }, { "id": "MONDO:0030027", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0030027", "name": "tremor, hereditary essential, 6", "description": "" }, { "id": "MIM:618866", "resource": "MIM", "url": "https://www.omim.org/entry/618866", "name": "Tremor, hereditary essential 6", "description": "Tremor, hereditary essential 6" } ], "evidence": [ { "id": "618866", "database": "MIM", "url": "https://www.omim.org/entry/618866" } ] }, { "disease_id": "DOID:0081299", "recommended_name": { "id": "DOID:0081299", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0081299", "name": "oculopharyngodistal myopathy 3", "description": "An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21." }, "synonyms": [ { "id": "MONDO:0023671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023671", "name": "oculopharyngodistal myopathy 3", "description": "" }, { "id": "MONDO:0023671", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023671", "name": "OPDM3", "description": "" }, { "id": "MIM:619473", "resource": "MIM", "url": "https://www.omim.org/entry/619473", "name": "Oculopharyngodistal myopathy 3", "description": "Oculopharyngodistal myopathy 3" } ], "evidence": [ { "id": "619473", "database": "MIM", "url": "https://www.omim.org/entry/619473" } ] } ], "snv": [ { "evidence": [ { "id": "rs1379823130", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1379823130" }, { "id": "rs1379823130", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1379823130#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 137, "end_pos": 137, "sequence_org": "G", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NGG->NGS).", "chr_id": "1", "chr_pos": "149455517", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "G137", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1251591780", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1251591780" }, { "id": "rs1251591780", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1251591780#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 64, "end_pos": 64, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "1", "chr_pos": "149430997", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N64", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1232055459", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1232055459" }, { "id": "rs1232055459", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1232055459#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 66, "end_pos": 66, "sequence_org": "T", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGR).", "chr_id": "1", "chr_pos": "149431003", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T66", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P0DPK4", "url": "https://www.uniprot.org/uniprot/P0DPK4" } ], "common_name": "Human" } ], "gene": [ { "name": "NOTCH2NLC", "url": "https://www.uniprot.org/uniprot/P0DPK4", "locus": { "chromosome": "1", "start_pos": 149471833, "end_pos": 149390621, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000286219", "url": "https://www.ensembl.org/id/ENSG00000286219" } ] } } ], "crossref": [ { "id": "ENSG00000286219", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000286219", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00054", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00054", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "NOTCH2NLC", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=NOTCH2NLC", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "53924", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=53924", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "P0DPK4", "url": "https://www.ebi.ac.uk/intact/interactors/id:P0DPK4*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR000152", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000152", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR000742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR001881", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001881", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR018097", "url": "https://www.ebi.ac.uk/interpro/entry/IPR018097", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "603472", "url": "http://www.omim.org/entry/603472", "database": "MIM", "categories": [ "Other" ] }, { "id": "618025", "url": "http://www.omim.org/entry/618025", "database": "MIM", "categories": [ "Other" ] }, { "id": "618866", "url": "http://www.omim.org/entry/618866", "database": "MIM", "categories": [ "Other" ] }, { "id": "619473", "url": "http://www.omim.org/entry/619473", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_P0DPK4", "url": "https://www.nextprot.org/entry/NX_P0DPK4", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "P0DPK4", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P0DPK4", "database": "O-GlcNAc Database", "categories": [ "Glycoproteomics" ] }, { "id": "CNHASGG", "url": "https://omabrowser.org/oma/group/CNHASGG/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "101939at2759", "url": "http://www.orthodb.org/?query=101939at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR24049", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24049", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR24049:SF22", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24049:SF22", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00008", "url": "http://pfam.xfam.org/family/PF00008", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07645", "url": "http://pfam.xfam.org/family/PF07645", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_P0DPK4", "url": "http://purl.obolibrary.org/obo/PR_P0DPK4", "database": "PRO", "categories": [ "Protein" ] }, { "id": "P0DPK4", "url": "https://www.uniprot.org/uniprot/P0DPK4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0DPK4-1", "url": "https://www.uniprot.org/uniprot/P0DPK4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "P0DPK4-2", "url": "https://www.uniprot.org/uniprot/P0DPK4-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MWICPGGGGGGGGGGGGGDREDARPAPLCCGRCWRSGCAARPPRMCRDGYEPCVNEGMCVTYHNGTGYCKCPEGFLGEYCQHRDPCEKNRCQNGGTCVAQAMLGKATCRCASGFTGEDCQYSTSHPCFVSRPCLNGGTCHMLSRDTYECTCQVGFTGKECQWTDACLSHPCANGSTCTTVANQFSCKCLTGFTGQKCETDVNECDIPGHCQHGGTCLNLPGSYQCQCLQGFTGQYCDSLYVPCAPSPCVNGGTCRQTGDFTFECNCLPETVRRGTELWERDREVWNGKEHDEN", "length": 293, "header": "sp|P0DPK4-1|NT2NC_HUMAN Isoform 1 of Notch homolog 2 N-terminal-like protein C OS=Homo sapiens OX=9606 GN=NOTCH2NLC PE=1 SV=2 CANONICAL=P0DPK4-1" }, "isoforms": [ { "isoform_ac": "P0DPK4-1", "url": "", "sequence": { "sequence": "MWICPGGGGGGGGGGGGGDREDARPAPLCCGRCWRSGCAARPPRMCRDGYEPCVNEGMCVTYHNGTGYCKCPEGFLGEYCQHRDPCEKNRCQNGGTCVAQAMLGKATCRCASGFTGEDCQYSTSHPCFVSRPCLNGGTCHMLSRDTYECTCQVGFTGKECQWTDACLSHPCANGSTCTTVANQFSCKCLTGFTGQKCETDVNECDIPGHCQHGGTCLNLPGSYQCQCLQGFTGQYCDSLYVPCAPSPCVNGGTCRQTGDFTFECNCLPETVRRGTELWERDREVWNGKEHDEN", "length": 293, "header": "sp|P0DPK4-1|NT2NC_HUMAN Isoform 1 of Notch homolog 2 N-terminal-like protein C OS=Homo sapiens OX=9606 GN=NOTCH2NLC PE=1 SV=2 CANONICAL=P0DPK4-1" }, "locus": { "chromosome": "1", "start_pos": 149464150, "end_pos": 149390788, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000650865.2", "url": "https://www.ensembl.org/id/ENST00000650865.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000499085.1", "url": "https://www.ensembl.org/id/ENSP00000499085.1" } ] } }, { "isoform_ac": "P0DPK4-2", "url": "", "sequence": { "sequence": "MCVTYHNGTGYCKCPEGFLGEYCQHRDPCEKNRCQNGGTCVAQAMLGKATCRCASGFTGEDCQYSTSHPCFVSRPCLNGGTCHMLSRDTYECTCQVGFTGKECQWTDACLSHPCANGSTCTTVANQFSCKCLTGFTGQKCETDVNECDIPGHCQHGGTCLNLPGSYQCQCLQGFTGQYCDSLYVPCAPSPCVNGGTCRQTGDFTFECNCLPETVRRGTELWERDREVWNGKEHDEN", "length": 236, "header": "sp|P0DPK4-2|NT2NC_HUMAN Isoform 2 of Notch homolog 2 N-terminal-like protein C OS=Homo sapiens OX=9606 GN=NOTCH2NLC PE=1 SV=2 CANONICAL=P0DPK4-1" }, "locus": { "chromosome": "1", "start_pos": 149464150, "end_pos": 149430978, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000652191.1", "url": "https://www.ensembl.org/id/ENST00000652191.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000498514.1", "url": "https://www.ensembl.org/id/ENSP00000498514.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 173, "start_aa": "Asn", "end_pos": 173, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn173", "evidence": [ { "id": "P0DPK4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPK4#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 64, "start_aa": "Asn", "end_pos": 64, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn64", "evidence": [ { "id": "P0DPK4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/P0DPK4#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "P0DPK4", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=P0DPK4" }, { "id": "34846842", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/34846842" }, { "id": "35289036", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/35289036" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Evolution and cell-type specificity of human-specific genes preferentially expressed in progenitors of fetal neocortex.", "journal": "eLife", "date": "2018", "authors": "Florio M, Heide M, Pinson A, Brandl H, Albert M, Winkler S, Wimberger P, Huttner WB, Hiller M", "evidence": [ { "database": "UniProtKB", "id": "P0DPK4", "url": "https://www.uniprot.org/uniprot/P0DPK4" } ], "reference": [ { "type": "PubMed", "id": "29561261", "url": "https://glygen.org/publication/PubMed/29561261" } ] }, { "title": "Human-Specific NOTCH2NL Genes Affect Notch Signaling and Cortical Neurogenesis.", "journal": "Cell", "date": "2018", "authors": "Fiddes IT, Lodewijk GA, Mooring M, Bosworth CM, Ewing AD, Mantalas GL, Novak AM, van den Bout A, Bishara A, Rosenkrantz JL, Lorig-Roach R, Field AR, Haeussler M, Russo L, Bhaduri A, Nowakowski TJ, Pollen AA, Dougherty ML, Nuttle X, Addor MC, Zwolinski S, Katzman S, Kriegstein A, Eichler EE, Salama SR, Jacobs FMJ, Haussler D", "evidence": [ { "database": "UniProtKB", "id": "P0DPK4", "url": "https://www.uniprot.org/uniprot/P0DPK4" } ], "reference": [ { "type": "PubMed", "id": "29856954", "url": "https://glygen.org/publication/PubMed/29856954" } ] }, { "title": "Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation.", "journal": "Cell", "date": "2018", "authors": "Suzuki IK, Gacquer D, Van Heurck R, Kumar D, Wojno M, Bilheu A, Herpoel A, Lambert N, Cheron J, Polleux F, Detours V, Vanderhaeghen P", "evidence": [ { "database": "UniProtKB", "id": "P0DPK4", "url": "https://www.uniprot.org/uniprot/P0DPK4" } ], "reference": [ { "type": "PubMed", "id": "29856955", "url": "https://glygen.org/publication/PubMed/29856955" } ] }, { "title": "Expansion of human-specific GGC repeat in neuronal intranuclear inclusion disease-related disorders.", "journal": "Am. J. Hum. Genet.", "date": "2019", "authors": "Tian Yun, Wang Jun-Ling, Huang Wen, Zeng Sheng, Jiao Bin, Liu Zhen, Chen Zhao, Li Yujing, Wang Ying, Min Hao-Xuan, Wang Xue-Jing, You Yong, Zhang Ru-Xu, Chen Xiao-Yu, Yi Fang, Zhou Ya-Fang, Long Hong-Yu, Zhou Chao-Jun, Hou Xuan, Wang Jun-Pu, Xie Bin, Liang Fan, Yang Zhuan-Yi, Sun Qi-Ying, Allen Emily G, Shafik Andrew Mark, Kong Ha Eun, Guo Ji-Feng, Yan Xin-Xiang, Hu Zheng-Mao, Xia Kun, Jiang Hong, Xu Hong-Wei, Duan Ran-Hui, Jin Peng, Tang Bei-Sha, Shen Lu", "evidence": [ { "database": "UniProtKB", "id": "P0DPK4", "url": "https://www.uniprot.org/uniprot/P0DPK4" } ], "reference": [ { "type": "PubMed", "id": "31178126", "url": "https://glygen.org/publication/PubMed/31178126" } ] }, { "title": "Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.", "journal": "Nat. Genet.", "date": "2019", "authors": "Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S", "evidence": [ { "database": "UniProtKB", "id": "P0DPK4", "url": "https://www.uniprot.org/uniprot/P0DPK4" } ], "reference": [ { "type": "PubMed", "id": "31332380", "url": "https://glygen.org/publication/PubMed/31332380" } ] }, { "title": "Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.", "journal": "Nat. Genet.", "date": "2019", "authors": "Sone Jun, Mitsuhashi Satomi, Fujita Atsushi, Mizuguchi Takeshi, Hamanaka Kohei, Mori Keiko, Koike Haruki, Hashiguchi Akihiro, Takashima Hiroshi, Sugiyama Hiroshi, Kohno Yutaka, Takiyama Yoshihisa, Maeda Kengo, Doi Hiroshi, Koyano Shigeru, Takeuchi Hideyuki, Kawamoto Michi, Kohara Nobuo, Ando Tetsuo, Ieda Toshiaki, Kita Yasushi, Kokubun Norito, Tsuboi Yoshio, Katoh Kazutaka, Kino Yoshihiro, Katsuno Masahisa, Iwasaki Yasushi, Yoshida Mari, Tanaka Fumiaki, Suzuki Ikuo K, Frith Martin C, Matsumoto Naomichi, Sobue Gen", "evidence": [ { "database": "UniProtKB", "id": "P0DPK4", "url": "https://www.uniprot.org/uniprot/P0DPK4" } ], "reference": [ { "type": "PubMed", "id": "31332381", "url": "https://glygen.org/publication/PubMed/31332381" } ] }, { "title": "Expansion of GGC repeat in the human-specific NOTCH2NLC gene is associated with essential tremor.", "journal": "Brain", "date": "2020", "authors": "Sun Qi-Ying, Xu Qian, Tian Yun, Hu Zheng-Mao, Qin Li-Xia, Yang Jin-Xia, Huang Wen, Xue Jin, Li Jin-Chen, Zeng Sheng, Wang Ying, Min Hao-Xuan, Chen Xiao-Yu, Wang Jun-Pu, Xie Bin, Liang Fan, Zhang Hai-Nan, Wang Chun-Yu, Lei Li-Fang, Yan Xin-Xiang, Xu Hong-Wei, Duan Ran-Hui, Xia Kun, Liu Jing-Yu, Jiang Hong, Shen Lu, Guo Ji-Feng, Tang Bei-Sha", "evidence": [ { "database": "UniProtKB", "id": "P0DPK4", "url": "https://www.uniprot.org/uniprot/P0DPK4" } ], "reference": [ { "type": "PubMed", "id": "31819945", "url": "https://glygen.org/publication/PubMed/31819945" } ] }, { "title": "CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations.", "journal": "Acta Neuropathol. 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