{ "uniprot_canonical_ac": "O75129-1", "uniprot_ac": "O75129", "uniprot_id": "ASTN2_HUMAN", "mass": { "chemical_mass": 148243.0, "monoisotopic_mass": 148243.0 }, "refseq": { "ac": "NP_054729", "name": "astrotactin-2 isoform a precursor", "summary": "This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" }, "gene_names": [ { "name": "ASTN2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O75129", "id": "O75129" }, { "name": "ASTN2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729", "id": "NP_054729" }, { "name": "KIAA0634", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O75129", "id": "O75129" }, { "name": "bA67K19.1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729", "id": "NP_054729" } ], "protein_names": [ { "name": "Astrotactin-2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O75129" }, { "name": "astrotactin-2 isoform a precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729", "id": "NP_054729" } ], "function": [ { "annotation": "ASTN2 localizes primarily to endocytic and autophagocytic vesicles in the cell soma and in subsets of dendritic spines", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" }, { "database": "PubMed", "id": "30242134", "url": "https://glygen.org/publication/PubMed/30242134" } ] }, { "annotation": "Chimeric RNA ASTN2-PAPPAas aggravates tumor progression and metastasis in human esophageal cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" }, { "database": "PubMed", "id": "33388371", "url": "https://glygen.org/publication/PubMed/33388371" } ] }, { "annotation": "Clinical trial and genome-wide association study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" }, { "database": "PubMed", "id": "20195266", "url": "https://glygen.org/publication/PubMed/20195266" } ] }, { "annotation": "Effects of rs958804 and rs7858836 single-nucleotide polymorphisms of the ASTN2 gene on pain-related phenotypes in patients who underwent laparoscopic colectomy and mandibular sagittal split ramus osteotomy.", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" }, { "database": "PubMed", "id": "33476460", "url": "https://glygen.org/publication/PubMed/33476460" } ] }, { "annotation": "Genetic Variation in the ASTN2 Locus in Cardiovascular, Metabolic and Psychiatric Traits: Evidence for Pleiotropy Rather Than Shared Biology. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" }, { "database": "PubMed", "id": "34440368", "url": "https://glygen.org/publication/PubMed/34440368" } ] }, { "annotation": "Mediates recycling of the neuronal cell adhesion molecule ASTN1 to the anterior pole of the cell membrane in migrating neurons. Promotes ASTN1 internalization and intracellular transport of endocytosed ASTN1 (By similarity). Selectively binds inositol-4,5-bisphosphate, inositol-3,4,5-trisphosphate and inositol-1,3,4,5-tetrakisphosphate, suggesting it is recruited to membranes that contain lipids with a phosphoinositide headgroup (Ref.6).", "evidence": [ { "database": "UniProtKB", "id": "O75129", "url": "https://www.uniprot.org/uniprot/O75129#function" }, { "database": "UniProtKB", "id": "SIPDB3374C491AD5A3B", "url": "https://www.uniprot.org/uniprot/SIPDB3374C491AD5A3B#function" }, { "database": "UniProtKB", "id": "Q80Z10", "url": "https://www.uniprot.org/uniprot/Q80Z10#function" } ] }, { "annotation": "Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" }, { "database": "PubMed", "id": "20889312", "url": "https://glygen.org/publication/PubMed/20889312" } ] }, { "annotation": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" }, { "database": "PubMed", "id": "18839057", "url": "https://glygen.org/publication/PubMed/18839057" } ] }, { "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" }, { "database": "PubMed", "id": "18940311", "url": "https://glygen.org/publication/PubMed/18940311" } ] }, { "annotation": "Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders.", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" }, { "database": "PubMed", "id": "34412080", "url": "https://glygen.org/publication/PubMed/34412080" } ] }, { "annotation": "This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs764053356", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764053356" }, { "id": "rs764053356", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs764053356" }, { "id": "rs764053356", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs764053356#frequency_tab" }, { "id": "rs764053356", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs764053356" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1020, "end_pos": 1020, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->SGT).", "chr_id": "9", "chr_pos": "116651541", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1020", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs776028835", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776028835" }, { "id": "rs776028835", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs776028835" }, { "id": "rs776028835", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs776028835" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 1020, "end_pos": 1020, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->YGT).", "chr_id": "9", "chr_pos": "116651542", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N1020", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1564182950", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1564182950" }, { "id": "rs1564182950", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1564182950" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 1022, "end_pos": 1022, "sequence_org": "T", "sequence_mut": "A", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGA).", "chr_id": "9", "chr_pos": "116651536", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T1022", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1305973581", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1305973581" }, { "id": "rs1305973581", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1305973581#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1050, "end_pos": 1050, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DLS->NLS).", "chr_id": "9", "chr_pos": "116620368", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D1050", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O75129", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75129" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 1079, "end_pos": 1079, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "S", "sequence_mut": "F", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (S->F).", "chr_id": "9", "chr_pos": "116618443", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "S1079", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "O75129", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O75129" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 1097, "end_pos": 1097, "subjects_tested": "504", "subjects_positive": "1", "frequency": "0.2", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KVS->NVS).", "chr_id": "9", "chr_pos": "116618388", "ref_nt": "C", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "K1097", "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine 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"MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs142251161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142251161" }, { "id": "rs142251161", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs142251161" }, { "id": "rs142251161", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs142251161#frequency_tab" }, { "id": "rs142251161", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs142251161" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 1198, "end_pos": 1198, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation 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Male", "description": "" }, { "id": "MIM:114480", "resource": "MIM", "url": "https://www.omim.org/entry/114480", "name": "Breast cancer", "description": "Breast cancer" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Thyroid cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1781", "evidence": [ { "database": "BioXpress", "id": "O75129", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75129" } ], "disease": [ { "disease_id": "DOID:1781", "recommended_name": { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid cancer", "description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage." }, "synonyms": [ { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid gland cancer", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", 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"https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75129" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O75129", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O75129" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", 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"MAAAGARLSPGPGSGLRGRPRLCFHPGPPPLLPLLLLFLLLLPPPPLLAGATAAASREPDSPCRLKTVTVSTLPALRESDIGWSGARAGAGAGTGAGAAAAAASPGSPGSAGTAAESRLLLFVRNELPGRIAVQDDLDNTELPFFTLEMSGTAADISLVHWRQQWLENGTLYFHVSMSSSGQLAQATAPTLQEPSEIVEEQMHILHISVMGGLIALLLLLLVFTVALYAQRRWQKRRRIPQKSASTEATHEIHYIPSVLLGPQARESFRSSRLQTHNSVIGVPIRETPILDDYDCEEDEEPPRRANHVSREDEFGSQVTHTLDSLGHPGEEKVDFEKKAAAEATQETVESLMQKFKESFRANTPIEIGQLQPPLRSTSAGKRKRRSKSRGGISFGRAKGTSGSEADDETQLTFYTEQYRSRRRSKGLLKSPVNKTALTLIAVSSCILAMVCGSQMSCPLTVKVTLHVPEHFIADGSSFVVSEGSYLDISDWLNPAKLSLYYQINATSPWVRDLCGQRTTDACEQLCDPETGECSCHEGYAPDPVHRHLCVRSDWGQSEGPWPYTTLERGYDLVTGEQAPEKILRSTFSLGQGLWLPVSKSFVVPPVELSINPLASCKTDVLVTEDPADVREEAMLSTYFETINDLLSSFGPVRDCSRNNGGCTRNFKCVSDRQVDSSGCVCPEELKPMKDGSGCYDHSKGIDCSDGFNGGCEQLCLQQTLPLPYDATSSTIFMFCGCVEEYKLAPDGKSCLMLSDVCEGPKCLKPDSKFNDTLFGEMLHGYNNRTQHVNQGQVFQMTFRENNFIKDFPQLADGLLVIPLPVEEQCRGVLSEPLPDLQLLTGDIRYDEAMGYPMVQQWRVRSNLYRVKLSTITLAAGFTNVLKILTKESSREELLSFIQHYGSHYIAEALYGSELTCIIHFPSKKVQQQLWLQYQKETTELGSKKELKSMPFITYLSGLLTAQMLSDDQLISGVEIRCEEKGRCPSTCHLCRRPGKEQLSPTPVLLEINRVVPLYTLIQDNGTKEAFKSALMSSYWCSGKGDVIDDWCRCDLSAFDANGLPNCSPLLQPVLRLSPTVEPSSTVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTGEFLSFADDLLSGLGTSCVAAGRSHGEVPEVSIYSVIFKCLEPDGLYKFTLYAVDTRGRHSELSTVTLRTACPLVDDNKAEEIADKIYNLYNGYTSGKEQQMAYNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELGPRKAHLILRRLERVSSHCSSLLRSAYIQSRVETVPYLFCRSEEVRPAGMVWYSILKDTKITCEEKMVSMARNTYGESKGR", "length": 1339, "header": "sp|O75129-1|ASTN2_HUMAN Isoform 1 of Astrotactin-2 OS=Homo sapiens OX=9606 GN=ASTN2 PE=1 SV=2 CANONICAL=O75129-1" }, "isoforms": [ { "isoform_ac": "A0A0A0MRH9-1", "url": "", "sequence": { "sequence": "MAAAGARLSPGPGSGLRGRPRLCFHPGPPPLLPLLLLFLLLLPPPPLLAGATAAASREPDSPCRLKTVTVSTLPALRESDIGWSGARAGAGAGTGAGAAAAAASPGSPGSAGTAAESRLLLFVRNELPGRIAVQDDLDNTELPFFTLEMSGTAADISLVHWRQQWLENGTLYFHVSMSSSGQLAQATAPTLQEPSEIVEEQMHILHISVMGGLIALLLLLLVFTVALYAQRRWQKRRRIPQKSASTEATHEIHYIPSVLLGPQARESFRSSRLQTHNSVIGVPIRETPILDDYDCEEDEEPPRRANHVSREDEFGSQVTHTLDSLGHPGEEKVDFEKKGGISFGRAKGTSGSEADDETQLTFYTEQYRSRRRSKGLLKSPVNKTALTLIAVSSCILAMVCGSQMSCPLTVKVTLHVPEHFIADGSSFVVSEGSYLDISDWLNPAKLSLYYQINATSPWVRDLCGQRTTDACEQLCDPETGECSCHEGYAPDPVHRHLCVRSDWGQSEGPWPYTTLERGYDLVTGEQAPEKILRSTFSLGQGLWLPVSKSFVVPPVELSINPLASCKTDVLVTEDPADVREEAMLSTYFETINDLLSSFGPVRDCSRNNGGCTRNFKCVSDRQVDSSGCVCPEELKPMKDGSGCYDHSKGIDCSDGFNGGCEQLCLQQTLPLPYDATSSTIFMFCGCVEEYKLAPDGKSCLMLSDVCEGPKCLKPDSKFNDTLFGEMLHGYNNRTQHVNQGQVFQMTFRENNFIKDFPQLADGLLVIPLPVEEQCRGVLSEPLPDLQLLTGDIRYDEAMGYPMVQQWRVRSNLYRVKLSTITLAAGFTNVLKILTKESSREELLSFIQHYGSHYIAEALYGSELTCIIHFPSKKVQQQLWLQYQKETTELGSKKELKSMPFITYLSGLLTAQMLSDDQLISGVEIRCEEKGRCPSTCHLCRRPGKEQLSPTPVLLEINRVVPLYTLIQDNGTKEAFKSALMSSYWCSGKGDVIDDWCRCDLSAFDANGLPNCSPLLQPVLRLSPTVEPSSTVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTGEFLSFADDLLSGLGTSCVAAGRSHGEVPEVSIYSVIFKCLEPDGLYKFTLYAVDTRGRHSELSTVTLRTACPLVDDNKAEEIADKIYNLYNGYTSGKEQQMAYNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELGPRKAHLILRRLERVSSHCSSLLRSAYIQSRVETVPYLFCRSEEVRPAGMVWYSILKDTKITCEEKMVSMARNTYGESKGRYYLTLSKVSPF", "length": 1299, "header": "tr|A0A0A0MRH9-1|ASTN2_HUMAN Computationally mapped isoform of Astrotactin-2 OS=Homo sapiens OX=9606 GN=ASTN2 PE=1 SV=1 CANONICAL=O75129-1" }, "locus": { "chromosome": "9", "start_pos": 117414938, "end_pos": 116425593, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361477.8", "url": "https://www.ensembl.org/id/ENST00000361477.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000355116.5", "url": "https://www.ensembl.org/id/ENSP00000355116.5" } ] } }, { "isoform_ac": "H0Y3A8-1", "url": "", "sequence": { "sequence": "QTHNSVIGVPIRETPILDDYDCEEDEEPPRRANHVSREDEFGSQVTHTLDSLGHPGEEKVDFEKKAAAEATQETVESLMQKFKESFRANTPIEIGQLQPPLRSTSAGKRKRRSKSRGGISFGRAKGTSGSEADDETQLTFYTEQYRSRRRSKGLLKSPVNKTALTLIAVSSCILAMVCGSQMSCPLTVKVTLHVPEHFIADGSSFVVSEGSYLDISDWLNPAKLSLYYQINATSPWVRDLCGQRTTDACEQLCDPETGECSCHEGYAPDPVHRHLCVRSDWGQSEGPWPYTTLERGYDLVTGEQAPEKILSLGQGLWLPVSKSFVVPPVELSINPLASCKTDVLVTEDPADVREEAMLSTYFETINDLLSSFGPVRDCSRNNGGCTRNFKCVSDRQVDSSGCVCPEELKPMKDGSGCYDHSKGIDCSDGFNGGCEQLCLQQTLPLPYDATSSTIFMFCGCVEEYKLAPDGKSCLMLSDVCEGPKCLKPDSKFNDTLFGEMLHGYNNRTQHVNQGQVFQMTFRENNFIKDFPQLADGLLVIPLPVEEQCRGVLSEPLPDLQLLTGDIRYDEAMGYPMVQQWRVRSNLYRVKLSTITLAAGFTNVLKILTKESSREELLSFIQHYGSHYIAEALYGSELTCIIHFPSKKVQQQLWLQYQKETTELGSKKELKSMPFITYLSGLLTAQMLSDDQLISGVEIRCEEKGRCPSTCHLCRRPGKEQLSPTPVLLEINRVVPLYTLIQDNGTKEAFKSALMSSYWCSGKGDVIDDWCRCDLSAFDANGLPNCSPLLQPVLRLSPTVEPSSTVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTGEFLSFADDLLSGLGTSCVAAGRSHGEVPEVSIYSVIFKCLEPDGLYKFTLYAVDTRGRHSELSTVTLRTACPLVDDNKAEEIADKIYNLYNGYTSGKEQQMAYNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELGPRKAHLILRRLERVSSHCSSLLRSAYIQSRVETVPYLFCRSEEVRPAGMVWYSILKDTKITCEEKMVSMARNTYGESKGR", "length": 1062, "header": "tr|H0Y3A8-1|ASTN2_HUMAN Computationally mapped isoform of Astrotactin-2 OS=Homo sapiens OX=9606 GN=ASTN2 PE=1 SV=1 CANONICAL=O75129-1" }, "locus": { "chromosome": "9", "start_pos": 117214553, "end_pos": 116425854, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000373986.7", "url": "https://www.ensembl.org/id/ENST00000373986.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000363098.3", "url": "https://www.ensembl.org/id/ENSP00000363098.3" } ] } }, { "isoform_ac": "H7C3I6-1", "url": "", "sequence": { "sequence": "XMAYNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELGPSLLESFMSLQDINLLERRPGRPQRPGNPLSNVSWRISEIAPTSHTDMSAGIKETAS", "length": 98, "header": "tr|H7C3I6-1|ASTN2_HUMAN Computationally mapped isoform of Astrotactin-2 OS=Homo sapiens OX=9606 GN=ASTN2 PE=1 SV=1 CANONICAL=O75129-1" }, "locus": { "chromosome": "9", "start_pos": 116440735, "end_pos": 116437324, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000417725.1", "url": "https://www.ensembl.org/id/ENST00000417725.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000412099.1", "url": "https://www.ensembl.org/id/ENSP00000412099.1" } ] } }, { "isoform_ac": "O75129-1", "url": "", "sequence": { "sequence": "MAAAGARLSPGPGSGLRGRPRLCFHPGPPPLLPLLLLFLLLLPPPPLLAGATAAASREPDSPCRLKTVTVSTLPALRESDIGWSGARAGAGAGTGAGAAAAAASPGSPGSAGTAAESRLLLFVRNELPGRIAVQDDLDNTELPFFTLEMSGTAADISLVHWRQQWLENGTLYFHVSMSSSGQLAQATAPTLQEPSEIVEEQMHILHISVMGGLIALLLLLLVFTVALYAQRRWQKRRRIPQKSASTEATHEIHYIPSVLLGPQARESFRSSRLQTHNSVIGVPIRETPILDDYDCEEDEEPPRRANHVSREDEFGSQVTHTLDSLGHPGEEKVDFEKKAAAEATQETVESLMQKFKESFRANTPIEIGQLQPPLRSTSAGKRKRRSKSRGGISFGRAKGTSGSEADDETQLTFYTEQYRSRRRSKGLLKSPVNKTALTLIAVSSCILAMVCGSQMSCPLTVKVTLHVPEHFIADGSSFVVSEGSYLDISDWLNPAKLSLYYQINATSPWVRDLCGQRTTDACEQLCDPETGECSCHEGYAPDPVHRHLCVRSDWGQSEGPWPYTTLERGYDLVTGEQAPEKILRSTFSLGQGLWLPVSKSFVVPPVELSINPLASCKTDVLVTEDPADVREEAMLSTYFETINDLLSSFGPVRDCSRNNGGCTRNFKCVSDRQVDSSGCVCPEELKPMKDGSGCYDHSKGIDCSDGFNGGCEQLCLQQTLPLPYDATSSTIFMFCGCVEEYKLAPDGKSCLMLSDVCEGPKCLKPDSKFNDTLFGEMLHGYNNRTQHVNQGQVFQMTFRENNFIKDFPQLADGLLVIPLPVEEQCRGVLSEPLPDLQLLTGDIRYDEAMGYPMVQQWRVRSNLYRVKLSTITLAAGFTNVLKILTKESSREELLSFIQHYGSHYIAEALYGSELTCIIHFPSKKVQQQLWLQYQKETTELGSKKELKSMPFITYLSGLLTAQMLSDDQLISGVEIRCEEKGRCPSTCHLCRRPGKEQLSPTPVLLEINRVVPLYTLIQDNGTKEAFKSALMSSYWCSGKGDVIDDWCRCDLSAFDANGLPNCSPLLQPVLRLSPTVEPSSTVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTGEFLSFADDLLSGLGTSCVAAGRSHGEVPEVSIYSVIFKCLEPDGLYKFTLYAVDTRGRHSELSTVTLRTACPLVDDNKAEEIADKIYNLYNGYTSGKEQQMAYNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELGPRKAHLILRRLERVSSHCSSLLRSAYIQSRVETVPYLFCRSEEVRPAGMVWYSILKDTKITCEEKMVSMARNTYGESKGR", "length": 1339, "header": "sp|O75129-1|ASTN2_HUMAN Isoform 1 of Astrotactin-2 OS=Homo sapiens OX=9606 GN=ASTN2 PE=1 SV=2 CANONICAL=O75129-1" }, "locus": { "chromosome": "9", "start_pos": 117414938, "end_pos": 116425854, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000313400.9", "url": "https://www.ensembl.org/id/ENST00000313400.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000314038.4", "url": "https://www.ensembl.org/id/ENSP00000314038.4" } ] } }, { "isoform_ac": "O75129-2", "url": "", "sequence": { "sequence": "MAAAGARLSPGPGSGLRGRPRLCFHPGPPPLLPLLLLFLLLLPPPPLLAGATAAASREPDSPCRLKTVTVSTLPALRESDIGWSGARAGAGAGTGAGAAAAAASPGSPGSAGTAAESRLLLFVRNELPGRIAVQDDLDNTELPFFTLEMSGTAADISLVHWRQQWLENGTLYFHVSMSSSGQLAQATAPTLQEPSEIVEEQMHILHISVMGGLIALLLLLLVFTVALYAQRRWQKRRRIPQKSASTEATHEIHYIPSVLLGPQARESFRSSRLQTHNSVIGVPIRETPILDDYDCEEDEEPPRRANHVSREDEFGSQVTHTLDSLGHPGEEKVDFEKKGGISFGRAKGTSGSEADDETQLTFYTEQYRSRRRSKGLLKSPVNKTALTLIAVSSCILAMVCGSQMSCPLTVKVTLHVPEHFIADGSSFVVSEGSYLDISDWLNPAKLSLYYQINATSPWVRDLCGQRTTDACEQLCDPETGECSCHEGYAPDPVHRHLCVRSDWGQSEGPWPYTTLERGYDLVTGEQAPEKILRSTFSLGQGLWLPVSKSFVVPPVELSINPLASCKTDVLVTEDPADVREEAMLSTYFETINDLLSSFGPVRDCSRNNGGCTRNFKCVSDRQVDSSGCVCPEELKPMKDGSGCYDHSKGIDCSDGFNGGCEQLCLQQTLPLPYDATSSTIFMFCGCVEEYKLAPDGKSCLMLSDVCEGPKCLKPDSKFNDTLFGEMLHGYNNRTQHVNQGQVFQMTFRENNFIKDFPQLADGLLVIPLPVEEQCRGVLSEPLPDLQLLTGDIRYDEAMGYPMVQQWRVRSNLYRVKLSTITLAAGFTNVLKILTKESSREELLSFIQHYGSHYIAEALYGSELTCIIHFPSKKVQQQLWLQYQKETTELGSKKELKSMPFITYLSGLLTAQMLSDDQLISGVEIRCEEKGRCPSTCHLCRRPGKEQLSPTPVLLEINRVVPLYTLIQDNGTKEAFKSALMSSYWCSGKGDVIDDWCRCDLSAFDANGLPNCSPLLQPVLRLSPTVEPSSTVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTGEFLSFADDLLSGLGTSCVAAGRSHGEVPEVSIYSVIFKCLEPDGLYKFTLYAVDTRGRHSELSTVTLRTACPLVDDNKAEEIADKIYNLYNGYTSGKEQQMAYNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELGPRKAHLILRRLERVSSHCSSLLRSAYIQSRVETVPYLFCRSEEVRPAGMVWYSILKDTKITCEEKMVSMARNTYGESKGR", "length": 1288, "header": "sp|O75129-2|ASTN2_HUMAN Isoform 2 of Astrotactin-2 OS=Homo sapiens OX=9606 GN=ASTN2 PE=1 SV=2 CANONICAL=O75129-1" }, "locus": { "chromosome": "9", "start_pos": 117414938, "end_pos": 116425854, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361209.6", "url": "https://www.ensembl.org/id/ENST00000361209.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000354504.2", "url": "https://www.ensembl.org/id/ENSP00000354504.2" } ] } }, { "isoform_ac": "O75129-3", "url": "", "sequence": { "sequence": "MAAAGARLSPGPGSGLRGRPRLCFHPGPPPLLPLLLLFLLLLPPPPLLAGATAAASREPDSPCRLKTVTVSTLPALRESDIGWSGARAGAGAGTGAGAAAAAASPGSPGSAGTAAESRLLLFVRNELPGRIAVQDDLDNTELPFFTLEMSGTAADISLVHWRQQWLENGTLYFHVSMSSSGQLAQATAPTLQEPSEIVEEQMHILHISVMGGLIALLLLLLVFTVALYAQRRWQKRRRIPQKSASTEATHEIHYIPSVLLGPQARESFRSSRLQTHNSVIGVPIRETPILDDYDCEEDEEPPRRANHVSREDEFGSQVTHTLDSLGHPGEEKVDFEKKAAAEATQETVESLMQKFKESFRANTPIEIGQLQPPLRSTSAGKRKRRSKSRGGISFGRAKGTSGSEADDETQLTFYTEQYRSRRRSKGLLKSPVNKTALTLIAVSSCILAMVCGSQMSCPLTVKVTLHVPEHFIADGSSFVVSEGSYLDISDWLNPAKLSLYYQINATSPWVRDLCGQRTTDACEQLCDPETGECSCHEGYAPDPVHRHLCVRSDWGQSEGPWPYTTLERGYDLVTGEQAPEKILSLGQGLWLPVSKSFVVPPVELSINPLASCKTDVLVTEDPADVREEAMLSTYFETINDLLSSFGPVRDCSRNNGGCTRNFKCVSDRQVDSSGCVCPEELKPMKDGSGCYDHSKGIDCSDGFNGGCEQLCLQQTLPLPYDATSSTIFMFCGCVEEYKLAPDGKSCLMLSDVCEGPKCLKPDSKFNDTLFGEMLHGYNNRTQHVNQGQVFQMTFRENNFIKDFPQLADGLLVIPLPVEEQCRGVLSEPLPDLQLLTGDIRYDEAMGYPMVQQWRVRSNLYRVKLSTITLAAGFTNVLKILTKESSREELLSFIQHYGSHYIAEALYGSELTCIIHFPSKKVQQQLWLQYQKETTELGSKKELKSMPFITYLSGLLTAQMLSDDQLISGVEIRCEEKGRCPSTCHLCRRPGKEQLSPTPVLLEINRVVPLYTLIQDNGTKEAFKSALMSSYWCSGKGDVIDDWCRCDLSAFDANGLPNCSPLLQPVLRLSPTVEPSSTVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTGEFLSFADDLLSGLGTSCVAAGRSHGEVPEVSIYSVIFKCLEPDGLYKFTLYAVDTRGRHSELSTVTLRTACPLVDDNKAEEIADKIYNLYNGYTSGKEQQMAYNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELGPRKAHLILRRLERVSSHCSSLLRSAYIQSRVETVPYLFCRSEEVRPAGMVWYSILKDTKITCEEKMVSMARNTYGESKGR", "length": 1335, "header": "sp|O75129-3|ASTN2_HUMAN Isoform 3 of Astrotactin-2 OS=Homo sapiens OX=9606 GN=ASTN2 PE=1 SV=2 CANONICAL=O75129-1" }, "locus": {} }, { "isoform_ac": "O75129-4", "url": "", "sequence": { "sequence": "MNTLLCKGMFCLLSWEADSRGRLGEYTLQPLSLQTEETTELGSKKELKSMPFITYLSGLLTAQMLSDDQLISGVEIRCEEKGRCPSTCHLCRRPGKEQLSPTPVLLEINRVVPLYTLIQDNGTKEAFKSALMSSYWCSGKGDVIDDWCRCDLSAFDANGLPNCSPLLQPVLRLSPTVEPSSTVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTGEFLSFADDLLSGLGTSCVAAGRSHGEVPEVSIYSVIFKCLEPDGLYKFTLYAVDTRGRHSELSTVTLRTACPLVDDNKAEEIADKIYNLYNGYTSGKEQQMAYNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELGPRKAHLILRRLERVSSHCSSLLRSAYIQSRVETVPYLFCRSEEVRPAGMVWYSILKDTKITCEEKMVSMARNTYGESKGR", "length": 440, "header": "sp|O75129-4|ASTN2_HUMAN Isoform 4 of Astrotactin-2 OS=Homo sapiens OX=9606 GN=ASTN2 PE=1 SV=2 CANONICAL=O75129-1" }, "locus": { "chromosome": "9", "start_pos": 116686805, "end_pos": 116425854, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000288520.9", "url": "https://www.ensembl.org/id/ENST00000288520.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000288520.5", "url": "https://www.ensembl.org/id/ENSP00000288520.5" } ] } }, { "isoform_ac": "O75129-6", "url": "", "sequence": { "sequence": "MPFITYLSGLLTAQMLSDDQLISGVEIRCEEKGRCPSTCHLCRRPGKEQLSPTPVLLEINRVVPLYTLIQDNGTKEAFKSALMSSYWCSGKGDVIDDWCRCDLSAFDANGLPNCSPLLQPVLRLSPTVEPSSTVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTGEFLSFADDLLSGLGTSCVAAGRSHGEVPEVSIYSVIFKCLEPDGLYKFTLYAVDTRGRHSELSTVTLRTACPLVDDNKAEEIADKIYNLYNGYTSGKEQQMAYNTLMEVSASMLFRVQHHYNSHYEKFGDFVWRSEDELGPRKAHLILRRLERVSSHCSSLLRSAYIQSRVETVPYLFCRSEEVRPAGMVWYSILKDTKITCEEKMVSMARNTYYLTLSKVSPF", "length": 395, "header": "sp|O75129-6|ASTN2_HUMAN Isoform 6 of Astrotactin-2 OS=Homo sapiens OX=9606 GN=ASTN2 PE=1 SV=2 CANONICAL=O75129-1" }, "locus": { "chromosome": "9", "start_pos": 116651755, "end_pos": 116425593, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000341734.8", "url": "https://www.ensembl.org/id/ENST00000341734.8" }, { "database": "Ensembl Peptide", "id": "ENSP00000339925.4", "url": "https://www.ensembl.org/id/ENSP00000339925.4" } ] } }, { "isoform_ac": "X6R5P2-1", "url": "", "sequence": { "sequence": "MPFITYLSGLLTAQMLSDDQLISGVEIRCEEKGRCPSTCHLCRRPGKEQLSPTPVLLEINRVVPLYTLIQDNGTKEAFKSALMSSYWCSGKGDVIDDWCRCDLSAFDANGLPNCSPLLQPVLRLSPTVEPSSTVVSLEWVDVQPAIGTKVSDYILQHKKVDEYTDTDLYTVYCWITFIDLRILNQPCIPGMKPT", "length": 194, "header": "tr|X6R5P2-1|ASTN2_HUMAN Computationally mapped isoform of Astrotactin-2 OS=Homo sapiens OX=9606 GN=ASTN2 PE=1 SV=1 CANONICAL=O75129-1" }, "locus": { "chromosome": "9", "start_pos": 116651755, "end_pos": 116613535, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000358637.4", "url": "https://www.ensembl.org/id/ENST00000358637.4" }, { "database": "Ensembl Peptide", "id": "ENSP00000351460.4", "url": "https://www.ensembl.org/id/ENSP00000351460.4" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1020, "start_aa": "Asn", "end_pos": 1020, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1020", "evidence": [ { "id": "O75129", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75129#ptm_processing" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1079, "start_aa": "Ser", "end_pos": 1079, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1079", "evidence": [ { "id": "O75129", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O75129" }, { "id": "28314751", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28314751" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 168, "start_aa": "Asn", "end_pos": 168, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn168", "evidence": [ { "id": "O75129", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75129#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 493, "start_aa": "Asn", "end_pos": 493, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn493", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 770, "start_aa": "Asn", "end_pos": 770, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn770", "evidence": [ { "id": "O75129", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75129#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 782, "start_aa": "Asn", "end_pos": 782, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn782", "evidence": [ { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 783, "start_aa": "Asn", "end_pos": 783, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn783", "evidence": [ { "id": "O75129", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O75129#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O75129", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75129" }, { "id": "28314751", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/28314751" } ] } ], "phosphorylation": [ { "start_pos": 1317, "end_pos": 1317, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75129", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75129" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Thr1317" }, { "start_pos": 1320, "end_pos": 1320, "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Thr", "comment": "", "evidence": [ { "database": "iPTMnet", "id": "O75129", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/O75129" }, { "database": "PubMed", "id": "32387766", "url": "" } ], "site_lbl": "Thr1320" } ], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The consensus coding sequences of human breast and colorectal cancers.", "journal": "Science (New York, N.Y.)", "date": "2006", "authors": "Sjoblom T, Jones S, Wood LD, Parsons DW, Lin J, Barber TD, Mandelker D, Leary RJ, Ptak J, Silliman N, Szabo S, Buckhaults P, Farrell C, Meeh P, Markowitz SD, Willis J, Dawson D, Willson JK, Gazdar AF, Hartigan J, Wu L, Liu C, Parmigiani G, Park BH, Bachman KE, Papadopoulos N, Vogelstein B, Kinzler KW, Velculescu VE", "evidence": [ { "database": "UniProtKB", "id": "O75129", "url": "https://www.uniprot.org/uniprot/O75129" } ], "reference": [ { "type": "PubMed", "id": "16959974", "url": "https://glygen.org/publication/PubMed/16959974" } ] }, { "title": "Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies.", "journal": "Journal of neural transmission (Vienna, Austria : 1996)", "date": "2008", "authors": "Lesch KP, Timmesfeld N, Renner TJ, Halperin R, Roser C, Nguyen TT, Craig DW, Romanos J, Heine M, Meyer J, Freitag C, Warnke A, Romanos M, Schafer H, Walitza S, Reif A, Stephan DA, Jacob C", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" } ], "reference": [ { "type": "PubMed", "id": "18839057", "url": "https://glygen.org/publication/PubMed/18839057" } ] }, { "title": "Recurrent CNVs disrupt three candidate genes in schizophrenia patients.", "journal": "American journal of human genetics", "date": "2008", "authors": "Vrijenhoek T, Buizer-Voskamp JE, van der Stelt I, Strengman E, Sabatti C, Geurts van Kessel A, Brunner HG, Ophoff RA, Veltman JA", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" } ], "reference": [ { "type": "PubMed", "id": "18940311", "url": "https://glygen.org/publication/PubMed/18940311" } ] }, { "title": "Genomewide pharmacogenomic study of metabolic side effects to antipsychotic drugs.", "journal": "Molecular psychiatry", "date": "2011", "authors": "Adkins DE, Aberg K, McClay JL, Bukszar J, Zhao Z, Jia P, Stroup TS, Perkins D, McEvoy JP, Lieberman JA, Sullivan PF, van den Oord EJ", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" } ], "reference": [ { "type": "PubMed", "id": "20195266", "url": "https://glygen.org/publication/PubMed/20195266" } ] }, { "title": "A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.", "journal": "Schizophrenia research", "date": "2010", "authors": "Wang KS, Liu XF, Aragam N", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" } ], "reference": [ { "type": "PubMed", "id": "20889312", "url": "https://glygen.org/publication/PubMed/20889312" } ] }, { "title": "Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.", "journal": "Nature", "date": "2011", "authors": "Varela I, Tarpey P, Raine K, Huang D, Ong CK, Stephens P, Davies H, Jones D, Lin ML, Teague J, Bignell G, Butler A, Cho J, Dalgliesh GL, Galappaththige D, Greenman C, Hardy C, Jia M, Latimer C, Lau KW, Marshall J, McLaren S, Menzies A, Mudie L, Stebbings L, Largaespada DA, Wessels LF, Richard S, Kahnoski RJ, Anema J, Tuveson DA, Perez-Mancera PA, Mustonen V, Fischer A, Adams DJ, Rust A, Chan-on W, Subimerb C, Dykema K, Furge K, Campbell PJ, Teh BT, Stratton MR, Futreal PA", "evidence": [ { "database": "UniProtKB", "id": "O75129", "url": "https://www.uniprot.org/uniprot/O75129" } ], "reference": [ { "type": "PubMed", "id": "21248752", "url": "https://glygen.org/publication/PubMed/21248752" } ] }, { "title": "The exomes of the NCI-60 panel: a genomic resource for cancer biology and systems pharmacology.", "journal": "Cancer research", "date": "2013", "authors": "Abaan OD, Polley EC, Davis SR, Zhu YJ, Bilke S, Walker RL, Pineda M, Gindin Y, Jiang Y, Reinhold WC, Holbeck SL, Simon RM, Doroshow JH, Pommier Y, Meltzer PS", "evidence": [ { "database": "dbSNP", "id": "rs756533396", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs756533396" } ], "reference": [ { "type": "PubMed", "id": "23856246", "url": "https://glygen.org/publication/PubMed/23856246" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Identification of Glycopeptides as Posttranslationally Modified Neoantigens in Leukemia.", "journal": "Cancer immunology research", "date": "2017", "authors": "Malaker SA, Penny SA, Steadman LG, Myers PT, Loke JC, Raghavan M, Bai DL, Shabanowitz J, Hunt DF, Cobbold M", "evidence": [ { "database": "O-GlcNAc Database", "id": "O75129", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O75129" }, { "database": "O-GlcNAc Atlas", 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"https://glygen.org/publication/PubMed/28940097" } ] }, { "title": "Correction to: Expanding the genetic heterogeneity of intellectual disability.", "journal": "Hum. Genet.", "date": "2018", "authors": "Anazi Shams, Maddirevula Sateesh, Salpietro Vincenzo, Asi Yasmine T, Alsahli Saud, Alhashem Amal, Shamseldin Hanan E, AlZahrani Fatema, Patel Nisha, Ibrahim Niema, Abdulwahab Firdous M, Hashem Mais, Alhashmi Nadia, Al Murshedi Fathiya, Al Kindy Adila, Alshaer Ahmad, Rumayyan Ahmed, Al Tala Saeed, Kurdi Wesam, Alsaman Abdulaziz, Alasmari Ali, Banu Selina, Sultan Tipu, Saleh Mohammed M, Alkuraya Hisham, Salih Mustafa A, Aldhalaan Hesham, Ben-Omran Tawfeg, Al Musafri Fatima, Ali Rehab, Suleiman Jehan, Tabarki Brahim, El-Hattab Ayman W, Bupp Caleb, Alfadhel Majid, Al Tassan Nada, Monies Dorota, Arold Stefan T, Abouelhoda Mohamed, Lashley Tammaryn, Houlden Henry, Faqeih Eissa, Alkuraya Fowzan S", "evidence": [ { "database": "UniProtKB", "id": "O75129", "url": "https://www.uniprot.org/uniprot/O75129" } ], "reference": [ { "type": "PubMed", "id": "29288388", "url": "https://glygen.org/publication/PubMed/29288388" } ] }, { "title": "ASTN2 modulates synaptic strength by trafficking and degradation of surface proteins.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2018", "authors": "Behesti H, Fore TR, Wu P, Horn Z, Leppert M, Hull C, Hatten ME", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" } ], "reference": [ { "type": "PubMed", "id": "30242134", "url": "https://glygen.org/publication/PubMed/30242134" } ] }, { "title": "Chimeric RNA ASTN2-PAPPAas aggravates tumor progression and metastasis in human esophageal cancer.", "journal": "Cancer letters", "date": "2021", "authors": "Wang L, Xiong X, Yao Z, Zhu J, Lin Y, Lin W, Li K, Xu X, Guo Y, Chen Y, Pan Y, Zhou F, Fan J, Chen Y, Gao S, Jim Yeung SC, Zhang H", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" } ], "reference": [ { "type": "PubMed", "id": "33388371", "url": "https://glygen.org/publication/PubMed/33388371" } ] }, { "title": "Effects of rs958804 and rs7858836 single-nucleotide polymorphisms of the ASTN2 gene on pain-related phenotypes in patients who underwent laparoscopic colectomy and mandibular sagittal split ramus osteotomy.", "journal": "Neuropsychopharmacology reports", "date": "2021", "authors": "Inoue R, Nishizawa D, Hasegawa J, Nakayama K, Fukuda KI, Ichinohe T, Mieda T, Tsujita M, Nakagawa H, Kitamura A, Sumikura H, Ikeda K, Hayashida M", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" } ], "reference": [ { "type": "PubMed", "id": "33476460", "url": "https://glygen.org/publication/PubMed/33476460" } ] }, { "title": "Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders.", "journal": "Psychiatric genetics", "date": "2021", "authors": "Bauleo A, Montesanto A, Pace V, Brando R, De Stefano L, Puntorieri D, Cento L, Loddo S, Calacci C, Novelli A, Falcone E", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" } ], "reference": [ { "type": "PubMed", "id": "34412080", "url": "https://glygen.org/publication/PubMed/34412080" } ] }, { "title": "Genetic Variation in the ASTN2 Locus in Cardiovascular, Metabolic and Psychiatric Traits: Evidence for Pleiotropy Rather Than Shared Biology.", "journal": "Genes", "date": "2021", "authors": "Burt O, Johnston KJA, Graham N, Cullen B, Lyall DM, Lyall LM, Pell JP, Ward J, Smith DJ, Strawbridge RJ", "evidence": [ { "database": "RefSeq", "id": "NP_054729", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_054729" } ], "reference": [ { "type": "PubMed", "id": "34440368", "url": "https://glygen.org/publication/PubMed/34440368" } ] } ], "pathway": [ { "id": "hsa:23245", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:23245", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": 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