{ "uniprot_canonical_ac": "O60687-1", "uniprot_ac": "O60687", "uniprot_id": "SRPX2_HUMAN", "mass": { "chemical_mass": 52972.0, "monoisotopic_mass": 52972.0 }, "refseq": { "ac": "NP_055282", "name": "sushi repeat-containing protein SRPX2 precursor", "summary": "This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and cognitive disability. [provided by RefSeq, May 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" }, "gene_names": [ { "name": "SRPX2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60687", "id": "O60687" }, { "name": "BPP; CBPS; PMGX; RESDX; SRPUL", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282", "id": "NP_055282" }, { "name": "SRPUL", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60687", "id": "O60687" }, { "name": "SRPX2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282", "id": "NP_055282" } ], "protein_names": [ { "name": "Sushi repeat-containing protein SRPX2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60687" }, { "name": "Sushi-repeat protein upregulated in leukemia", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60687" }, { "name": "sushi repeat-containing protein SRPX2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282", "id": "NP_055282" }, { "name": "sushi-repeat protein up-regulated in leukemia; sushi repeat-containing protein SRPX2; sushi-repeat protein upregulated in leukemia", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282", "id": "NP_055282" } ], "function": [ { "annotation": "Acts as a ligand for the urokinase plasminogen activator surface receptor. Plays a role in angiogenesis by inducing endothelial cell migration and the formation of vascular network (cords). Involved in cellular migration and adhesion. Increases the phosphorylation levels of FAK. Interacts with and increases the mitogenic activity of HGF. Promotes synapse formation. May have a role in the perisylvian region, critical for language and cognitive development.", "evidence": [ { "database": "UniProtKB", "id": "O60687", "url": "https://www.uniprot.org/uniprot/O60687#function" }, { "database": "PubMed", "id": "24179158", "url": "https://glygen.org/publication/PubMed/24179158" }, { "database": "PubMed", "id": "19065654", "url": "https://glygen.org/publication/PubMed/19065654" }, { "database": "PubMed", "id": "18718938", "url": "https://glygen.org/publication/PubMed/18718938" }, { "database": "PubMed", "id": "16497722", "url": "https://glygen.org/publication/PubMed/16497722" } ] }, { "annotation": "Knockdown of SRPX2 inhibits cell proliferation and metastasis, and promotes chemosensitivity in esophageal squamous cell carcinoma cells.", "evidence": [ { "database": "RefSeq", "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" }, { "database": "PubMed", "id": "30551519", "url": "https://glygen.org/publication/PubMed/30551519" } ] }, { "annotation": "Local administration of liposomal-based Srpx2 gene therapy reverses pulmonary fibrosis by blockading fibroblast-to-myofibroblast transition. Erratum:[Theranostics. 2022 Jul 8;12(12):5330-5331. PMID: 35910799] Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" }, { "database": "PubMed", "id": "34093874", "url": "https://glygen.org/publication/PubMed/34093874" } ] }, { "annotation": "SRPX2 promotes cancer cell proliferation and migration of papillary thyroid cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" }, { "database": "PubMed", "id": "37306872", "url": "https://glygen.org/publication/PubMed/37306872" } ] }, { "annotation": "SRPX2 promotes cell proliferation and invasion via activating FAK/SRC/ERK pathway in non-small cell lung cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" }, { "database": "PubMed", "id": "32550700", "url": "https://glygen.org/publication/PubMed/32550700" } ] }, { "annotation": "Sushi Repeat Containing Protein X-linked 2 Is a Downstream Signal of LEM Domain Containing 1 and Acts as a Tumor-Promoting Factor in Oral Squamous Cell Carcinoma. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" }, { "database": "PubMed", "id": "32455867", "url": "https://glygen.org/publication/PubMed/32455867" } ] }, { "annotation": "The R75K human-specific variation occurred in an important functional loop of the first sushi domain of SRPX2, indicating that this evolutionary mutation may have functional importance Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" }, { "database": "PubMed", "id": "17942002", "url": "https://glygen.org/publication/PubMed/17942002" } ] }, { "annotation": "The SRPX2 protein contains the P-DUDES structural domain in its C-terminal region. This domain has significant albeit remote sequence similarity to thioredoxin-like domains, and is predicted to possess an oxidoreductase function.", "evidence": [ { "database": "RefSeq", "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" }, { "database": "PubMed", "id": "209648", "url": "https://glygen.org/publication/PubMed/209648" } ] }, { "annotation": "The involvement of SRPX2 in these disorders suggests an important role for SRPX2 in the perisylvian region critical for language and cognitive development.", "evidence": [ { "database": "RefSeq", "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" }, { "database": "PubMed", "id": "16497722", "url": "https://glygen.org/publication/PubMed/16497722" } ] }, { "annotation": "This gene encodes a secreted protein that contains three sushi repeat motifs. The encoded protein may play a role in the development of speech and language centers in the brain. This protein may also be involved in angiogenesis. Mutations in this gene are the cause of bilateral perisylvian polymicrogyria, rolandic epilepsy, speech dyspraxia and cognitive disability. [provided by RefSeq, May 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" } ] } ], "disease": [ { "disease_id": "MONDO:0010388", "recommended_name": { "id": "MONDO:0010388", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010388", "name": "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked", "description": "" }, "synonyms": [ { "id": "MONDO:0010388", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010388", "name": "rolandic epilepsy, impaired intellectual development, and speech dyspraxia", "description": "" }, { "id": "MONDO:0010388", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010388", "name": "rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked", "description": "" }, { "id": "MONDO:0010388", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010388", "name": "rolandic epilepsy, mental retardation, and speech dyspraxia, X-linked", "description": "" }, { "id": "MONDO:0010388", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010388", "name": "RESDX", "description": "" }, { "id": "MONDO:0010388", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010388", "name": "ROLANDIC epilepsy, intellectual disability, and speech dyspraxia, X-linked", "description": "" }, { "id": "MONDO:0010388", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010388", "name": "ROLANDIC epilepsy, mental retardation, and speech dyspraxia, X-linked", "description": "" }, { "id": "MIM:300643", "resource": "MIM", "url": "https://www.omim.org/entry/300643", "name": "Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked", "description": "Rolandic epilepsy, impaired intellectual development, and speech dyspraxia, X-linked" } ], "evidence": [ { "id": "300643", "database": "MIM", "url": "https://www.omim.org/entry/300643" } ] } ], "snv": [ { "evidence": [ { "id": "O60687", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60687" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 222, "end_pos": 222, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "T", "sequence_mut": "A", "comment": "Somatic mutation passed 1 out of 6 filters: o-glyco-site-loss (T->A).", "chr_id": "X", "chr_pos": "100665540", "ref_nt": "A", "alt_nt": "G", "minor_allelic_frequency": "", "site_lbl": "T222", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs765347728", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765347728" }, { "id": "rs765347728", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs765347728" }, { "id": "rs765347728", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs765347728" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 222, "end_pos": 222, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->K).", "chr_id": "X", "chr_pos": "100665541", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T222", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs746147592", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs746147592" }, { "id": "rs746147592", "database": "ExAC", "url": 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"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1053767697" }, { "id": "rs1053767697", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1053767697" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 331, "end_pos": 331, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "X", "chr_pos": "100667303", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A331", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs754184154", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754184154" }, { "id": "rs754184154", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs754184154" }, { "id": "rs754184154", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs754184154" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 34, "end_pos": 34, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DES->NES).", "chr_id": "X", "chr_pos": "100650802", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D34", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760211273", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760211273" }, { "id": "rs760211273", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760211273" }, { "id": "rs760211273", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760211273#frequency_tab" }, { "id": "rs760211273", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760211273" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 402, "end_pos": 402, "sequence_org": "I", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NII->NIT).", "chr_id": "X", "chr_pos": "100669357", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "I402", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O60687", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60687" } ], "glycoeffect": [], "start_pos": 50, "end_pos": 50, "subjects_tested": "92", "subjects_positive": "1", "frequency": "1.1", "sequence_org": "A", "sequence_mut": "V", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.1%). In dbSNP: rs749092510.", "chr_id": "X", "chr_pos": "100650851", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "A50", "keywords": [ "biomuta", "somatic", "cancer" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "61.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102359" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "78.77", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102359" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "65.6", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102359" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000102359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102359" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "88.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102359" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "77.04", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102359" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000102359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102359" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "85.75", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102359" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "71.12", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102359" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "47.6", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000102359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102359" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "72.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000102359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102359" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "76.11", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102359" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "83.52", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000102359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102359" } ] } ], "expression_disease": [ { "significant": "No", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60687", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60687" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", 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"https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", 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"https://monarchinitiative.org/disease/MONDO:0012758", "name": "familial prostate cancer caused by mutation in MSMB", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, type 13", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "HPC13", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", 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"MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, type 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "HPC6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "HPC10", "description": "" }, { "id": "MONDO:0012620", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012620", "name": "prostate cancer, hereditary, 10", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate carcinoma", "description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma." }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "familial prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate cancer", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "hereditary prostate carcinoma", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, somatic", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, familial", "description": "" }, { "id": "MONDO:0023122", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0023122", "name": "prostate cancer, hereditary", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "HPC7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer, hereditary, 7", "description": "" }, { "id": "MONDO:0012470", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012470", "name": "prostate cancer aggressiveness", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "RNASEL 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"name": "Prca1", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "HPC11", "description": "" }, { "id": "MONDO:0012768", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012768", "name": "prostate cancer, hereditary, 11", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "HPC14", "description": "" }, { "id": "MONDO:0012769", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012769", "name": "prostate cancer, hereditary, 14", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "HPC15", "description": "" }, { "id": "MONDO:0012770", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012770", "name": "prostate cancer, hereditary, 15", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "HPCX1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer, hereditary, X-linked 1", "description": "" }, { "id": "MONDO:0010257", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010257", "name": "prostate cancer susceptibility, X-linked", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "HPCX2", "description": "" }, { "id": "MONDO:0010405", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0010405", "name": "prostate cancer, hereditary, X-linked 2", "description": "" }, { "id": "MIM:611868", "resource": "MIM", "url": "https://www.omim.org/entry/611868", "name": "Prostate cancer, hereditary, 12", "description": "Prostate cancer, hereditary, 12" }, { "id": "MIM:611928", "resource": "MIM", "url": "https://www.omim.org/entry/611928", "name": "Prostate cancer, 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"http://disease-ontology.org/term/DOID:10534", "name": "stomach cancer", "description": "A gastrointestinal system cancer that is located_in the stomach." }, "synonyms": [ { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10534", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "A primary or metastatic malignant neoplasm involving the stomach." }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca lesser curvature - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "cancer of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer risk after h. pylori infection", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, somatic", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric 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developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": 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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": "O60687", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60687" } ], "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/O60687" } ], "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": [ { 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}, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "CRC", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "large intestine cancer", "description": "" }, { "id": "MIM:114500", "resource": "MIM", "url": "https://www.omim.org/entry/114500", "name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O60687", "url": "https://www.uniprot.org/uniprot/O60687" } ], "common_name": "Human" } ], "gene": [ { "name": "SRPX2", "url": "https://www.uniprot.org/uniprot/O60687", "locus": { "chromosome": "X", "start_pos": 100675788, "end_pos": 100644195, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "ENSG00000102359", "url": "https://www.ensembl.org/id/ENSG00000102359" } ] } } ], "crossref": [ { "id": "ENSG00000102359", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000102359", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "O60687", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O60687", "database": "BioMuta", "categories": [ "Variation" ] }, { "id": "cd00033", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00033", "database": "CDD", 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"https://www.ebi.ac.uk/interpro/entry/IPR025232", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR035976", "url": "https://www.ebi.ac.uk/interpro/entry/IPR035976", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR043555", "url": "https://www.ebi.ac.uk/interpro/entry/IPR043555", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:27286", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:27286", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "300642", "url": "http://www.omim.org/entry/300642", "database": "MIM", "categories": [ "Other" ] }, { "id": "300643", "url": "http://www.omim.org/entry/300643", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O60687", "url": "https://www.nextprot.org/entry/NX_O60687", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "EQRDMCE", "url": "https://omabrowser.org/oma/group/EQRDMCE/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5406861at2759", "url": "http://www.orthodb.org/?query=5406861at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46343", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46343", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46343:SF3", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46343:SF3", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00084", "url": "http://pfam.xfam.org/family/PF00084", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02494", "url": "http://pfam.xfam.org/family/PF02494", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13778", "url": "http://pfam.xfam.org/family/PF13778", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60687", "url": "https://pharos.nih.gov/targets/O60687", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60687", "url": "http://purl.obolibrary.org/obo/PR_O60687", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O60687", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "A0A1W2PNZ6", "url": "https://www.uniprot.org/uniprot/A0A1W2PNZ6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PNZ6-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PNZ6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PR88", "url": "https://www.uniprot.org/uniprot/A0A1W2PR88", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PR88-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PR88-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRB1", "url": "https://www.uniprot.org/uniprot/A0A1W2PRB1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1W2PRB1-1", "url": "https://www.uniprot.org/uniprot/A0A1W2PRB1-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60687", "url": "https://www.uniprot.org/uniprot/O60687", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60687-1", "url": "https://www.uniprot.org/uniprot/O60687-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASQLTQRGALFLLFFLTPAVTPTWYAGSGYYPDESYNEVYAEEVPQAPALDYRVPRWCYTLNIQDGEATCYSPKGGNYHSSLGTRCELSCDRGFRLIGRRSVQCLPSRRWSGTAYCRQMRCHALPFITSGTYTCTNGVLLDSRCDYSCSSGYHLEGDRSRICMEDGRWSGGEPVCVDIDPPKIRCPHSREKMAEPEKLTARVYWDPPLVKDSADGTITRVTLRGPEPGSHFPEGEHVIRYTAYDRAYNRASCKFIVKVQVRRCPTLKPPQHGYLTCTSAGDNYGATCEYHCDGGYDRQGTPSRVCQSSRQWSGSPPICAPMKINVNVNSAAGLLDQFYEKQRLLIISAPDPSNRYYKMQISMLQQSTCGLDLRHVTIIELVGQPPQEVGRIREQQLSANIIEELRQFQRLTRSYFNMVLIDKQGIDRDRYMEPVTPEEIFTFIDDYLLSNQELTQRREQRDICE", "length": 465, "header": "sp|O60687-1|SRPX2_HUMAN Isoform 1 of Sushi repeat-containing protein SRPX2 OS=Homo sapiens OX=9606 GN=SRPX2 PE=1 SV=1 CANONICAL=O60687-1" }, "isoforms": [ { "isoform_ac": "A0A1W2PNZ6-1", "url": "", "sequence": { "sequence": "CAPMKINVNVNSAAGLLDQFYEKQRLLIISAPDPSNRYYKMQISMLQAISAPHSLLLQHGVD", "length": 62, "header": "tr|A0A1W2PNZ6-1|A0A1W2PNZ6_HUMAN Computationally mapped isoform of Sushi repeat containing protein X-linked 2 OS=Homo sapiens OX=9606 GN=SRPX2 PE=1 SV=1 CANONICAL=O60687-1" }, "locus": { "chromosome": "X", "start_pos": 100670851, "end_pos": 100666927, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640282.1", "url": "https://www.ensembl.org/id/ENST00000640282.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000491188.1", "url": "https://www.ensembl.org/id/ENSP00000491188.1" } ] } }, { "isoform_ac": "A0A1W2PR88-1", "url": "", "sequence": { "sequence": "MASQLTQRGALFLLFFLTPAVTPTWYAGSGYYPDESYNEVYAEEVPQAPALDYRACLSSIATVPRWCYTLNIQDGEATCYSPKGGNYHSSLGTRCELSCDRGFRLIGRRSVQCLPSRRWSGTAYCRQMRCHALPFITSGTYTCTNGVLLDSRCDYSCSSGYHLEGDRSRICMEDGRWSGGEPVCVDIDPPKIRCPHSREKMAEPEKLTARVYWDPPLVKDSADGTITRVTLRGPEPGSHFPEGEHVIRYTAYDRAYNRASCKFIVKVQVRRCPTLKPPQHGYLTCTSAGDNYGATCEYHCDGGYDRQGTPSR", "length": 312, "header": "tr|A0A1W2PR88-1|A0A1W2PR88_HUMAN Computationally mapped isoform of Sushi repeat-containing protein SRPX2 OS=Homo sapiens OX=9606 GN=SRPX2 PE=1 SV=1 CANONICAL=O60687-1" }, "locus": { "chromosome": "X", "start_pos": 100666884, "end_pos": 100646323, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000638458.1", "url": "https://www.ensembl.org/id/ENST00000638458.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492168.1", "url": "https://www.ensembl.org/id/ENSP00000492168.1" } ] } }, { "isoform_ac": "A0A1W2PRB1-1", "url": "", "sequence": { "sequence": "MASQLTQRGALFLLFFLTPAVTPTWYAGSGYYPDESYNEVYAEEVPQAPALDYRVPRWCYTLNIQDGEATCYSPKGGNYHSSLGTRCELSCDRGFRLIGRRSVQCLPSRRWSGTAYCRQMRCHALPFITSGTYTCTNGVLLDSRCDYSCSSGYHLEGDRSRICMEDGRWSGGEPVCVDIDPPKIRCPHSREKMAEPEKLTARVYWDPPLVKDSADGTITRVTL", "length": 223, "header": "tr|A0A1W2PRB1-1|A0A1W2PRB1_HUMAN Computationally mapped isoform of Sushi repeat-containing protein SRPX2 OS=Homo sapiens OX=9606 GN=SRPX2 PE=1 SV=1 CANONICAL=O60687-1" }, "locus": { "chromosome": "X", "start_pos": 100665545, "end_pos": 100646323, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000640889.1", "url": "https://www.ensembl.org/id/ENST00000640889.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000492571.1", "url": "https://www.ensembl.org/id/ENSP00000492571.1" } ] } }, { "isoform_ac": "O60687-1", "url": "", "sequence": { "sequence": "MASQLTQRGALFLLFFLTPAVTPTWYAGSGYYPDESYNEVYAEEVPQAPALDYRVPRWCYTLNIQDGEATCYSPKGGNYHSSLGTRCELSCDRGFRLIGRRSVQCLPSRRWSGTAYCRQMRCHALPFITSGTYTCTNGVLLDSRCDYSCSSGYHLEGDRSRICMEDGRWSGGEPVCVDIDPPKIRCPHSREKMAEPEKLTARVYWDPPLVKDSADGTITRVTLRGPEPGSHFPEGEHVIRYTAYDRAYNRASCKFIVKVQVRRCPTLKPPQHGYLTCTSAGDNYGATCEYHCDGGYDRQGTPSRVCQSSRQWSGSPPICAPMKINVNVNSAAGLLDQFYEKQRLLIISAPDPSNRYYKMQISMLQQSTCGLDLRHVTIIELVGQPPQEVGRIREQQLSANIIEELRQFQRLTRSYFNMVLIDKQGIDRDRYMEPVTPEEIFTFIDDYLLSNQELTQRREQRDICE", "length": 465, "header": "sp|O60687-1|SRPX2_HUMAN Isoform 1 of Sushi repeat-containing protein SRPX2 OS=Homo sapiens OX=9606 GN=SRPX2 PE=1 SV=1 CANONICAL=O60687-1" }, "locus": { "chromosome": "X", "start_pos": 100670984, "end_pos": 100646323, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000373004.5", "url": "https://www.ensembl.org/id/ENST00000373004.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000362095.3", "url": "https://www.ensembl.org/id/ENSP00000362095.3" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "VTLRGPEPGSHFPEGEHVIR", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 221, "start_aa": "Val", "end_pos": 240, "end_aa": "Arg", "evidence": [ { "id": "O60687", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "glytoucan_ac": "G57321FI", "type": "O-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "T", "relation": "attached", "comment": "Data provided by GlycoDomainViewer", "start_pos": 222, "start_aa": "Thr", "end_pos": 222, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr222", "evidence": [ { "id": "O60687", "database": "UniCarbKB", "url": "" }, { "id": "23584533", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23584533" }, { "id": "10.1038/emboj.2013.79", "database": "DOI", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology", "journal": "EMBO J", "date": "2013", "authors": "Steentoft C., Vakhrushev S.Y., Joshi H.J., Kong Y., Vester-Christensen M.B., Schjoldager K.T., Lavrsen K., Dabelsteen S., Pedersen N.B., Marcos-Silva L., Gupta R., Bennett E.P., Mandel U., Brunak S., Wandall H.H., Levery S.B., Clausen H.", "evidence": [ { "database": "UniCarbKB", "id": "O60687", "url": "" } ], "reference": [ { "type": "DOI", "id": "10.1038/emboj.2013.79", "url": "https://glygen.org/publication/DOI/10.1038/emboj.2013.79" } ] }, { "title": "Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.", "journal": "DNA Res.", "date": "2005", "authors": "Otsuki T, Ota T, Nishikawa T, Hayashi K, Suzuki Y, Yamamoto J, Wakamatsu A, Kimura K, Sakamoto K, Hatano N, Kawai Y, Ishii S, Saito K, Kojima S, Sugiyama T, Ono T, Okano K, Yoshikawa Y, Aotsuka S, Sasaki N, Hattori A, Okumura K, Nagai K, Sugano S, Isogai T", "evidence": [ { "database": "UniProtKB", "id": "O60687", "url": "https://www.uniprot.org/uniprot/O60687" } ], "reference": [ { "type": "PubMed", "id": "16303743", "url": "https://glygen.org/publication/PubMed/16303743" } ] }, { "title": "SRPX2 mutations in disorders of language cortex and cognition.", "journal": "Human molecular genetics", "date": "2006", "authors": "Roll P, Rudolf G, Pereira S, Royer B, Scheffer IE, Massacrier A, Valenti MP, Roeckel-Trevisiol N, Jamali S, Beclin C, Seegmuller C, Metz-Lutz MN, Lemainque A, Delepine M, Caloustian C, de Saint Martin A, Bruneau N, Depetris D, Mattei MG, Flori E, Robaglia-Schlupp A, Levy N, Neubauer BA, Ravid R, Marescaux C, Berkovic SF, Hirsch E, Lathrop M, Cau P, Szepetowski P", "evidence": [ { "database": "UniProtKB", "id": "O60687", "url": "https://www.uniprot.org/uniprot/O60687" }, { "database": "RefSeq", "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" }, { "database": "dbSNP", "id": "rs121918363", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918363" } ], "reference": [ { "type": "PubMed", "id": "16497722", "url": "https://glygen.org/publication/PubMed/16497722" } ] }, { "title": "Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas.", "journal": "BMC genetics", "date": "2007", "authors": "Royer B, Soares DC, Barlow PN, Bontrop RE, Roll P, Robaglia-Schlupp A, Blancher A, Levasseur A, Cau P, Pontarotti P, Szepetowski P", "evidence": [ { "database": "RefSeq", "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" } ], "reference": [ { "type": "PubMed", "id": "17942002", "url": "https://glygen.org/publication/PubMed/17942002" } ] }, { "title": "Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR.", "journal": "Human molecular genetics", "date": "2008-12-01", "authors": "Royer-Zemmour Barbara, Ponsole-Lenfant Magali, Gara Hyam, Roll Patrice, L\u00e9v\u00eaque Christian, Massacrier Annick, Ferracci G\u00e9raldine, Cillario Jennifer, Robaglia-Schlupp Andr\u00e9e, Vincentelli Renaud, Cau Pierre, Szepetowski Pierre", "evidence": [ { "database": "UniProtKB", "id": "O60687", "url": "https://www.uniprot.org/uniprot/O60687" } ], "reference": [ { "type": "PubMed", "id": "18718938", "url": "https://glygen.org/publication/PubMed/18718938" } ] }, { "title": "SRPX2 is overexpressed in gastric cancer and promotes cellular migration and adhesion.", "journal": "International journal of cancer", "date": "2009-03-01", "authors": "Tanaka Kaoru, Arao Tokuzo, Maegawa Mari, Matsumoto Kazuko, Kaneda Hiroyasu, Kudo Kanae, Fujita Yoshihiko, Yokote Hideyuki, Yanagihara Kazuyoshi, Yamada Yasuhide, Okamoto Isamu, Nakagawa Kazuhiko, Nishio Kazuto", "evidence": [ { "database": "UniProtKB", "id": "O60687", "url": "https://www.uniprot.org/uniprot/O60687" } ], "reference": [ { "type": "PubMed", "id": "19065654", "url": "https://glygen.org/publication/PubMed/19065654" } ] }, { "title": "[A case of mixed tumor of the palate].", "journal": "Acta biologica et medica Germanica", "date": "1976", "authors": "Arlotta P, Santori L, de Vecchi A", "evidence": [ { "database": "RefSeq", "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" } ], "reference": [ { "type": "PubMed", "id": "209648", "url": "https://glygen.org/publication/PubMed/209648" } ] }, { "title": "SRPX2 is a novel chondroitin sulfate proteoglycan that is overexpressed in gastrointestinal cancer.", "journal": "PloS one", "date": "2012", "authors": "Tanaka Kaoru, Arao Tokuzo, Tamura Daisuke, Aomatsu Keiichi, Furuta Kazuyuki, Matsumoto Kazuko, Kaneda Hiroyasu, Kudo Kanae, Fujita Yoshihiko, Kimura Hideharu, Yanagihara Kazuyoshi, Yamada Yasuhide, Okamoto Isamu, Nakagawa Kazuhiko, Nishio Kazuto", "evidence": [ { "database": "UniProtKB", "id": "O60687", "url": "https://www.uniprot.org/uniprot/O60687" } ], "reference": [ { "type": "PubMed", "id": "22242148", "url": "https://glygen.org/publication/PubMed/22242148" } ] }, { "title": "Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology.", "journal": "The EMBO journal", "date": "2013", "authors": "Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, Lavrsen K, Dabelsteen S, Pedersen NB, Marcos-Silva L, Gupta R, Bennett EP, Mandel U, Brunak S, Wandall HH, Levery SB, Clausen H", "evidence": [ { "database": "UniCarbKB", "id": "O60687", "url": "" } ], "reference": [ { "type": "PubMed", "id": "23584533", "url": "https://glygen.org/publication/PubMed/23584533" } ] }, { "title": "Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero.", "journal": "Brain : a journal of neurology", "date": "2013-08", "authors": "Salmi Manal, Bruneau Nadine, Cillario Jennifer, Lozovaya Natalia, Massacrier Annick, Buhler Emmanuelle, Cloarec Robin, Tsintsadze Timur, Watrin Fran\u00e7oise, Tsintsadze Vera, Zimmer C\u00e9line, Villard Claude, Lafitte Daniel, Cardoso Carlos, Bao Lan, Lesca Gaetan, Rudolf Gabrielle, Muscatelli Fran\u00e7oise, Pauly Vanessa, Khalilov Ilgam, Durbec Pascale, Ben-Ari Yehezkel, Burnashev Nail, Represa Alfonso, Szepetowski Pierre", "evidence": [ { "database": "dbSNP", "id": "rs121918363", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918363" } ], "reference": [ { "type": "PubMed", "id": "23831613", "url": "https://glygen.org/publication/PubMed/23831613" } ] }, { "title": "XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.", "journal": "American journal of human genetics", "date": "2013", "authors": "Piton A, Redin C, Mandel JL", "evidence": [ { "database": "dbSNP", "id": "rs121918363", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918363" } ], "reference": [ { "type": "PubMed", "id": "23871722", "url": "https://glygen.org/publication/PubMed/23871722" } ] }, { "title": "GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.", "journal": "Nature genetics", "date": "2013", "authors": "Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, Salmi M, Tsintsadze T, Addis L, Motte J, Wright S, Tsintsadze V, Michel A, Doummar D, Lascelles K, Strug L, Waters P, de Bellescize J, Vrielynck P, de Saint Martin A, Ville D, Ryvlin P, Arzimanoglou A, Hirsch E, Vincent A, Pal D, Burnashev N, Sanlaville D, Szepetowski P", "evidence": [ { "database": "dbSNP", "id": "rs121918363", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918363" } ], "reference": [ { "type": "PubMed", "id": "23933820", "url": "https://glygen.org/publication/PubMed/23933820" } ] }, { "title": "The human language-associated gene SRPX2 regulates synapse formation and vocalization in mice.", "journal": "Science (New York, N.Y.)", "date": "2013", "authors": "Sia GM, Clem RL, Huganir RL", "evidence": [ { "database": "UniProtKB", "id": "O60687", "url": "https://www.uniprot.org/uniprot/O60687" } ], "reference": [ { "type": "PubMed", "id": "24179158", "url": "https://glygen.org/publication/PubMed/24179158" } ] }, { "title": "Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy.", "journal": "Epilepsia", "date": "2014", "authors": "Reinthaler EM, Lal D, Jurkowski W, Feucht M, Steinbock H, Gruber-Sedlmayr U, Ronen GM, Geldner J, Haberlandt E, Neophytou B, Hahn A, Altmuller J, Thiele H, Toliat MR, Lerche H, Nurnberg P, Sander T, Neubauer BA, Zimprich F", "evidence": [ { "database": "dbSNP", "id": "rs121918363", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918363" } ], "reference": [ { "type": "PubMed", "id": "24995671", "url": "https://glygen.org/publication/PubMed/24995671" } ] }, { "title": "SRPX2 knockdown inhibits cell proliferation and metastasis and promotes chemosensitivity in esophageal squamous cell carcinoma.", "journal": "Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie", "date": "2019", "authors": "He F, Wang H, Li Y, Liu W, Gao X, Chen D, Wang Q, Shi G", "evidence": [ { "database": "RefSeq", "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" } ], "reference": [ { "type": "PubMed", "id": "30551519", "url": "https://glygen.org/publication/PubMed/30551519" } ] }, { "title": "Sushi Repeat Containing Protein X-linked 2 Is a Downstream Signal of LEM Domain Containing 1 and Acts as a Tumor-Promoting Factor in Oral Squamous Cell Carcinoma.", "journal": "International journal of molecular sciences", "date": "2020", "authors": "Sasahira T, Kurihara-Shimomura M, Nishiguchi Y, Shimomura H, Kirita T", "evidence": [ { "database": "RefSeq", "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" } ], "reference": [ { "type": "PubMed", "id": "32455867", "url": "https://glygen.org/publication/PubMed/32455867" } ] }, { "title": "SRPX2 promotes cell proliferation and invasion via activating FAK/SRC/ERK pathway in non-small cell lung cancer.", "journal": "Acta biochimica Polonica", "date": "2020", "authors": "Li X, Liu J, Sun H, Zou Y, Chen J, Chen Y, Chen C, Wu X", "evidence": [ { "database": "RefSeq", "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" } ], "reference": [ { "type": "PubMed", "id": "32550700", "url": "https://glygen.org/publication/PubMed/32550700" } ] }, { "title": "Local administration of liposomal-based Srpx2 gene therapy reverses pulmonary fibrosis by blockading fibroblast-to-myofibroblast transition.", "journal": "Theranostics", "date": "2021", "authors": "Wang Q, Liu J, Hu Y, Pan T, Xu Y, Yu J, Xiong W, Zhou Q, Wang Y", "evidence": [ { "database": "RefSeq", "id": "NP_055282", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_055282" } ], "reference": [ { "type": "PubMed", "id": "34093874", "url": "https://glygen.org/publication/PubMed/34093874" } ] }, { "title": "SRPX2 promotes cancer cell proliferation and migration of papillary thyroid cancer.", "journal": "Clinical and experimental medicine", "date": "2023-12", "authors": "Guo Haiwei, Liu Ruiqi, Wu Jiajun, Li Shuang, Yao Weiping, Xu Jiajie, Zheng Chuanming, Lu Yanwei, Zhang Haibo", "evidence": [ { "database": 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