{ "uniprot_canonical_ac": "O15041-1", "uniprot_ac": "O15041", "uniprot_id": "SEM3E_HUMAN", "mass": { "chemical_mass": 89228.0, "monoisotopic_mass": 89228.0 }, "refseq": { "ac": "NP_001171600", "name": "semaphorin-3E isoform 2", "summary": "Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171600" }, "gene_names": [ { "name": "SEMA3E", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O15041", "id": "O15041" }, { "name": "KIAA0331", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15041", "id": "O15041" }, { "name": "SEMA3E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171600", "id": "NP_001171600" }, { "name": "SEMAH", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O15041", "id": "O15041" }, { "name": "coll-5; M-SEMAH; M-SemaK; SEMAH", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171600", "id": "NP_001171600" } ], "protein_names": [ { "name": "Semaphorin-3E", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O15041" }, { "name": "sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171600", "id": "NP_001171600" }, { "name": "semaphorin-3E isoform 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171600", "id": "NP_001171600" } ], "function": [ { "annotation": "ASO Visual Abstract: PLXND1/SEMA3E Promotes EMT Partly via the PI3K/AKT Signaling Pathway and Induces Heterogeneity in Colorectal Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001171600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171600" }, { "database": "PubMed", "id": "35915297", "url": "https://glygen.org/publication/PubMed/35915297" } ] }, { "annotation": "PLXND1/SEMA3E Promotes Epithelial-Mesenchymal Transition Partly via the PI3K/AKT-Signaling Pathway and Induces Heterogenity in Colorectal Cancer.", "evidence": [ { "database": "RefSeq", "id": "NP_001171600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171600" }, { "database": "PubMed", "id": "35917012", "url": "https://glygen.org/publication/PubMed/35917012" } ] }, { "annotation": "Plays an important role in signaling via the cell surface receptor PLXND1. Mediates reorganization of the actin cytoskeleton, leading to the retraction of cell projections. Promotes focal adhesion disassembly and inhibits adhesion of endothelial cells to the extracellular matrix. Regulates angiogenesis, both during embryogenesis and after birth. Can down-regulate sprouting angiogenesis. Required for normal vascular patterning during embryogenesis. Plays an important role in ensuring the specificity of synapse formation (By similarity).", "evidence": [ { "database": "UniProtKB", "id": "O15041", "url": "https://www.uniprot.org/uniprot/O15041#function" } ] }, { "annotation": "SEMA3E is a novel regulator in intestinal inflammation that regulates intestinal epithelium apoptosis.", "evidence": [ { "database": "RefSeq", "id": "NP_001171600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171600" }, { "database": "PubMed", "id": "31170375", "url": "https://glygen.org/publication/PubMed/31170375" } ] }, { "annotation": "Semaphorins are a large family of conserved secreted and membrane associated proteins which possess a semaphorin (Sema) domain and a PSI domain (found in plexins, semaphorins and integrins) in the N-terminal extracellular portion. Based on sequence and structural similarities, semaphorins are put into eight classes: invertebrates contain classes 1 and 2, viruses have class V, and vertebrates contain classes 3-7. Semaphorins serve as axon guidance ligands via multimeric receptor complexes, some (if not all) containing plexin proteins. This gene encodes a class 4 semaphorin. This gene encodes a class 3 semaphorin. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010].", "evidence": [ { "database": "RefSeq", "id": "NP_001171600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171600" } ] }, { "annotation": "The Combination of Natural Molecules Naringenin, Hesperetin, Curcumin, Polydatin and Quercetin Synergistically Decreases SEMA3E Expression Levels and DPPIV Activity in In Vitro Models of Insulin Resistance. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001171600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171600" }, { "database": "PubMed", "id": "37175783", "url": "https://glygen.org/publication/PubMed/37175783" } ] }, { "annotation": "The SEMA3E is reduced in colitis and modulates colonic inflammation by regulating the interaction between CD11c(+) and CD4(+) CD25(-) T-cells via an NF-kappaB-dependent mechanism.", "evidence": [ { "database": "RefSeq", "id": "NP_001171600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171600" }, { "database": "PubMed", "id": "30736100", "url": "https://glygen.org/publication/PubMed/30736100" } ] }, { "annotation": "The translocation envolving chromosomes 2 and 7 with SEMA3E within 200 kb of the translocation breakpoint on 7q21.11 in a patient with CHARGE syndrome.", "evidence": [ { "database": "RefSeq", "id": "NP_001171600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171600" }, { "database": "PubMed", "id": "15235037", "url": "https://glygen.org/publication/PubMed/15235037" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs749957904", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749957904" }, { "id": "rs749957904", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs749957904" }, { "id": "rs749957904", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs749957904" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 128, "end_pos": 128, "sequence_org": "T", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->NRK).", "chr_id": "7", "chr_pos": "83466555", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T128", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760892556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760892556" }, { "id": "rs760892556", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760892556" }, { "id": "rs760892556", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760892556" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 175, "end_pos": 175, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS).", "chr_id": "7", "chr_pos": "83418416", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S175", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1554320453", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1554320453" }, { "id": "rs1554320453", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs1554320453" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 330, "end_pos": 330, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTT->KTT).", "chr_id": "7", "chr_pos": "83405458", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N330", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs757139296", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757139296" }, { "id": "rs757139296", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs757139296" }, { "id": "rs757139296", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs757139296" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 44, "end_pos": 44, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRT->KRT).", "chr_id": "7", "chr_pos": "83490258", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N44", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762503685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762503685" }, { "id": "rs762503685", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762503685" }, { "id": "rs762503685", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762503685" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 595, "end_pos": 595, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->DNS).", "chr_id": "7", "chr_pos": "83385386", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N595", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs772875017", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772875017" }, { "id": "rs772875017", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs772875017" }, { "id": "rs772875017", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs772875017#frequency_tab" }, { "id": "rs772875017", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs772875017" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 595, "end_pos": 595, "sequence_org": "N", "sequence_mut": "K", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->KNS).", "chr_id": "7", "chr_pos": "83385384", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N595", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs762503685", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762503685" }, { "id": "rs762503685", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs762503685" }, { "id": "rs762503685", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs762503685" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 595, "end_pos": 595, "sequence_org": "N", "sequence_mut": "Y", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NNS->YNS).", "chr_id": "7", "chr_pos": "83385386", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N595", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs868825060", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs868825060" }, { "id": "rs868825060", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs868825060" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 596, "end_pos": 596, "sequence_org": "N", "sequence_mut": "D", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->DST).", "chr_id": "7", "chr_pos": "83385383", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N596", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs971383920", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs971383920" }, { "id": "rs971383920", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs971383920#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 598, "end_pos": 598, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NST->NSI).", "chr_id": "7", "chr_pos": "83385376", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T598", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "44.69", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000170381", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170381" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "44.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000170381", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170381" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "65.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170381", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170381" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "49.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000170381", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170381" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "80.28", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170381", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170381" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "73.39", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170381", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170381" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "47.76", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000170381", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170381" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "76.12", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000170381", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170381" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "47.21", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000170381", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170381" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "52.17", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170381", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170381" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "51.9", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170381", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170381" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "63.33", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170381", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170381" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "66.01", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000170381", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170381" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O15041", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15041" } ], "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", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "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, 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", 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, susceptibility to", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "MONDO:0012300", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012300", "name": "prostate cancer, hereditary, 6", "description": "" }, { "id": "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, 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"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 familial prostate cancer", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "familial prostate cancer caused by mutation in RNASEL", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "prostate cancer, hereditary, type 1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "name": "HPC1", "description": "" }, { "id": "MONDO:0011098", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011098", "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, hereditary, 13", "description": "Prostate cancer, hereditary, 13" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" } ] } ] }, { "significant": "No", "trend": "down", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "O15041", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O15041" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "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 tumor", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant gastric tumour", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant stomach neoplasm", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor 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"https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "stomach cancer", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "Ca body - stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "ca greater curvature of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant neoplasm of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", 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"name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ] } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "O15041", "url": "https://www.uniprot.org/uniprot/O15041" } ], "common_name": "Human" } ], "gene": [ { "name": "SEMA3E", "url": "https://www.uniprot.org/uniprot/O15041", "locus": { "chromosome": "7", "start_pos": 290926, "end_pos": 5025, "strand": "-", "evidence": [ { "database": "Ensembl Gene", "id": "LRG_1287", "url": "https://www.ensembl.org/id/LRG_1287" } ] } } ], "crossref": [ { "id": "ENSG00000170381", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000170381", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd05871", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd05871", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd11253", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd11253", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "SEMA3E", "url": "http://www.genecards.org/cgi-bin/carddisp.pl?gene=SEMA3E", "database": "GeneCards", "categories": [ "Gene Annotation", "Organism-specific" ] }, { "id": "9723", "url": "https://www.ncbi.nlm.nih.gov/gene/9723", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "10727", "url": "https://www.genenames.org/cgi-bin/gene_symbol_report?hgnc_id=10727", "database": "HGNC", "categories": [ "Organism-specific" ] }, { "id": "O15041", "url": "https://www.ebi.ac.uk/intact/interactors/id:O15041*", "database": "IntAct", "categories": [ "Other" ] }, { "id": "IPR001627", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001627", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR007110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013151", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013151", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015513", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015513", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR015943", "url": "https://www.ebi.ac.uk/interpro/entry/IPR015943", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR016201", "url": "https://www.ebi.ac.uk/interpro/entry/IPR016201", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR027231", "url": "https://www.ebi.ac.uk/interpro/entry/IPR027231", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036179", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036352", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036352", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "hsa:9723", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:9723", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "608166", "url": "http://www.omim.org/entry/608166", "database": "MIM", "categories": [ "Other" ] }, { "id": "NX_O15041", "url": "https://www.nextprot.org/entry/NX_O15041", "database": "neXtProt", "categories": [ "Protein", "Organism-specific" ] }, { "id": "STHAIYT", "url": "https://omabrowser.org/oma/group/STHAIYT/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "5342713at2759", "url": "http://www.orthodb.org/?query=5342713at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11036", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11036", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11036:SF22", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11036:SF22", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00047", "url": "http://pfam.xfam.org/family/PF00047", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF01403", "url": "http://pfam.xfam.org/family/PF01403", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O15041", "url": "https://pharos.nih.gov/targets/O15041", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O15041", "url": "http://purl.obolibrary.org/obo/PR_O15041", "database": "PRO", "categories": [ "Protein" ] }, { "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700", "database": "Reactome", "categories": [ "Protein Classification" ] }, { "id": "NP_001171600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171600", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A2R8YCX5", "url": "https://www.uniprot.org/uniprot/A0A2R8YCX5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A2R8YCX5-1", "url": "https://www.uniprot.org/uniprot/A0A2R8YCX5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCZ5", "url": "https://www.uniprot.org/uniprot/F8WCZ5", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F8WCZ5-1", "url": "https://www.uniprot.org/uniprot/F8WCZ5-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15041", "url": "https://www.uniprot.org/uniprot/O15041", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15041-1", "url": "https://www.uniprot.org/uniprot/O15041-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O15041-2", "url": "https://www.uniprot.org/uniprot/O15041-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MASAGHIITLLLWGYLLELWTGGHTADTTHPRLRLSHKELLNLNRTSIFHSPFGFLDLHTMLLDEYQERLFVGGRDLVYSLSLERISDGYKEIHWPSTALKMEECIMKGKDAGECANYVRVLHHYNRTHLLTCGTGAFDPVCAFIRVGYHLEDPLFHLESPRSERGRGRCPFDPSSSFISTLIGSELFAGLYSDYWSRDAAIFRSMGRLAHIRTEHDDERLLKEPKFVGSYMIPDNEDRDDNKVYFFFTEKALEAENNAHAIYTRVGRLCVNDVGGQRILVNKWSTFLKARLVCSVPGMNGIDTYFDELEDVFLLPTRDHKNPVIFGLFNTTSNIFRGHAICVYHMSSIRAAFNGPYAHKEGPEYHWSVYEGKVPYPRPGSCASKVNGGRYGTTKDYPDDAIRFARSHPLMYQAIKPAHKKPILVKTDGKYNLKQIAVDRVEAEDGQYDVLFIGTDNGIVLKVITIYNQEMESMEEVILEELQIFKDPVPIISMEISSKRQQLYIGSASAVAQVRFHHCDMYGSACADCCLARDPYCAWDGISCSRYYPTGTHAKRRFRRQDVRHGNAAQQCFGQQFVGDALDKTEEHLAYGIENNSTLLECTPRSLQAKVIWFVQKGRETRKEEVKTDDRVVKMDLGLLFLRLHKSDAGTYFCQTVEHSFVHTVRKITLEVVEEEKVEDMFNKDDEEDRHHRMPCPAQSSISQGAKPWYKEFLQLIGYSNFQRVEEYCEKVWCTDRKRKKLKMSPSKWKYANPQEKKLRSKPEHYRLPRHTLDS", "length": 775, "header": "sp|O15041-1|SEM3E_HUMAN Isoform 1 of Semaphorin-3E OS=Homo sapiens OX=9606 GN=SEMA3E PE=1 SV=1 CANONICAL=O15041-1" }, "isoforms": [ { "isoform_ac": "A0A2R8YCX5-1", "url": "", "sequence": { "sequence": "MASAGHIITLLLWGYLLELWTGGHTADTTHPRLRLSHKELLNLNRTSIFHSPFGFLDLHTMLLDEYQERLFVGGRDLVYSLSLERISDGYKEIHWPSTALKMEECIMKGKDAGECANYVRVLHHYNRTHLLTCGTGAFDPVCAFIRVGYHLEDPLFHLESPRSERGRGRCPFDPSSSFISTLIGSELFAGLYSDYWSRDAAIFRSMGRLAHIRTEHDDERLLKEPKFVGSYMIPDNEDRDDNKVYFFFTEKALEAENNAHAIYTRVGRLCVNDVGGQRILVNKWSTFLKARLVCSVPGMNGIDTYFDELEDVFLLPTRDHKNPVIFGLFNTTSNIFRGHAICVYHMSSIRAAFNGPYAHKEGPEYHWSVYEGKVPYPRPGSCASKVNGGRYGTTKDYPDDAIRFARSHPLMYQAIKPAHKKPILVKTDGKYNLKQIAVDRVEAEDGQYDVLFIGTDNGIVLKVITIYNQEMESMEEVILEELQIFKDPVPIISMEISSKRQQLYIGSASAVAQVRFHHCDMYGSACADCCLARDPYCAWDGISCSRYYPTGTHAKRRFRRQDVRHGNAAQQCFGQQFVGDALDKTEEHLAYGIENNSTLLECTPRSLQAKVIWFVQKGRETRKEEVKAMS", "length": 630, "header": "tr|A0A2R8YCX5-1|SEM3E_HUMAN Computationally mapped isoform of Semaphorin-3E OS=Homo sapiens OX=9606 GN=SEMA3E PE=1 SV=1 CANONICAL=O15041-1" }, "locus": { "chromosome": "7", "start_pos": 83648542, "end_pos": 83372273, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000642232.1", "url": "https://www.ensembl.org/id/ENST00000642232.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000494064.1", "url": "https://www.ensembl.org/id/ENSP00000494064.1" } ] } }, { "isoform_ac": "F8WCZ5-1", "url": "", "sequence": { "sequence": "MASAGHIITLLLWGYLLELWTGGHTADTTHPRLRLSHKE", "length": 39, "header": "tr|F8WCZ5-1|F8WCZ5_HUMAN Computationally mapped isoform of Semaphorin 3E OS=Homo sapiens OX=9606 GN=SEMA3E PE=4 SV=1 CANONICAL=O15041-1" }, "locus": { "chromosome": "7", "start_pos": 83648542, "end_pos": 83616711, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000453333.2", "url": "https://www.ensembl.org/id/ENST00000453333.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000415184.1", "url": "https://www.ensembl.org/id/ENSP00000415184.1" } ] } }, { "isoform_ac": "O15041-1", "url": "", "sequence": { "sequence": "MASAGHIITLLLWGYLLELWTGGHTADTTHPRLRLSHKELLNLNRTSIFHSPFGFLDLHTMLLDEYQERLFVGGRDLVYSLSLERISDGYKEIHWPSTALKMEECIMKGKDAGECANYVRVLHHYNRTHLLTCGTGAFDPVCAFIRVGYHLEDPLFHLESPRSERGRGRCPFDPSSSFISTLIGSELFAGLYSDYWSRDAAIFRSMGRLAHIRTEHDDERLLKEPKFVGSYMIPDNEDRDDNKVYFFFTEKALEAENNAHAIYTRVGRLCVNDVGGQRILVNKWSTFLKARLVCSVPGMNGIDTYFDELEDVFLLPTRDHKNPVIFGLFNTTSNIFRGHAICVYHMSSIRAAFNGPYAHKEGPEYHWSVYEGKVPYPRPGSCASKVNGGRYGTTKDYPDDAIRFARSHPLMYQAIKPAHKKPILVKTDGKYNLKQIAVDRVEAEDGQYDVLFIGTDNGIVLKVITIYNQEMESMEEVILEELQIFKDPVPIISMEISSKRQQLYIGSASAVAQVRFHHCDMYGSACADCCLARDPYCAWDGISCSRYYPTGTHAKRRFRRQDVRHGNAAQQCFGQQFVGDALDKTEEHLAYGIENNSTLLECTPRSLQAKVIWFVQKGRETRKEEVKTDDRVVKMDLGLLFLRLHKSDAGTYFCQTVEHSFVHTVRKITLEVVEEEKVEDMFNKDDEEDRHHRMPCPAQSSISQGAKPWYKEFLQLIGYSNFQRVEEYCEKVWCTDRKRKKLKMSPSKWKYANPQEKKLRSKPEHYRLPRHTLDS", "length": 775, "header": "sp|O15041-1|SEM3E_HUMAN Isoform 1 of Semaphorin-3E OS=Homo sapiens OX=9606 GN=SEMA3E PE=1 SV=1 CANONICAL=O15041-1" }, "locus": { "chromosome": "7", "start_pos": 83648542, "end_pos": 83367589, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000643230.2", "url": "https://www.ensembl.org/id/ENST00000643230.2" }, { "database": "Ensembl Peptide", "id": "ENSP00000496491.1", "url": "https://www.ensembl.org/id/ENSP00000496491.1" } ] } }, { "isoform_ac": "O15041-2", "url": "", "sequence": { "sequence": "MLLDEYQERLFVGGRDLVYSLSLERISDGYKEIHWPSTALKMEECIMKGKDAGECANYVRVLHHYNRTHLLTCGTGAFDPVCAFIRVGYHLEDPLFHLESPRSERGRGRCPFDPSSSFISTLIGSELFAGLYSDYWSRDAAIFRSMGRLAHIRTEHDDERLLKEPKFVGSYMIPDNEDRDDNKVYFFFTEKALEAENNAHAIYTRVGRLCVNDVGGQRILVNKWSTFLKARLVCSVPGMNGIDTYFDELEDVFLLPTRDHKNPVIFGLFNTTSNIFRGHAICVYHMSSIRAAFNGPYAHKEGPEYHWSVYEGKVPYPRPGSCASKVNGGRYGTTKDYPDDAIRFARSHPLMYQAIKPAHKKPILVKTDGKYNLKQIAVDRVEAEDGQYDVLFIGTDNGIVLKVITIYNQEMESMEEVILEELQIFKDPVPIISMEISSKRQQLYIGSASAVAQVRFHHCDMYGSACADCCLARDPYCAWDGISCSRYYPTGTHAKRRFRRQDVRHGNAAQQCFGQQFVGDALDKTEEHLAYGIENNSTLLECTPRSLQAKVIWFVQKGRETRKEEVKTDDRVVKMDLGLLFLRLHKSDAGTYFCQTVEHSFVHTVRKITLEVVEEEKVEDMFNKDDEEDRHHRMPCPAQSSISQGAKPWYKEFLQLIGYSNFQRVEEYCEKVWCTDRKRKKLKMSPSKWKYANPQEKKLRSKPEHYRLPRHTLDS", "length": 715, "header": "sp|O15041-2|SEM3E_HUMAN Isoform 2 of Semaphorin-3E OS=Homo sapiens OX=9606 GN=SEMA3E PE=1 SV=1 CANONICAL=O15041-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 126, "start_aa": "Asn", "end_pos": 126, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn126", "evidence": [ { "id": "O15041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15041#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 330, "start_aa": "Asn", "end_pos": 330, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn330", "evidence": [ { "id": "O15041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15041#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 44, "start_aa": "Asn", "end_pos": 44, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn44", "evidence": [ { "id": "O15041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15041#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 595, "start_aa": "Asn", "end_pos": 595, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn595", "evidence": [ { "id": "O15041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15041#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 596, "start_aa": "Asn", "end_pos": 596, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn596", "evidence": [ { "id": "O15041", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O15041#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Plexins are a large family of receptors for transmembrane, secreted, and GPI-anchored semaphorins in vertebrates.", "journal": "Cell", "date": "1999", "authors": "Tamagnone L, Artigiani S, Chen H, He Z, Ming GI, Song H, Chedotal A, Winberg ML, Goodman CS, Poo M, Tessier-Lavigne M, Comoglio PM", "evidence": [ { "database": "Reactome", "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700" } ], "reference": [ { "type": "PubMed", "id": "10520995", "url": "https://glygen.org/publication/PubMed/10520995" } ] }, { "title": "Switch in the protein tyrosine phosphatase associated with human CD100 semaphorin at terminal B-cell differentiation stage.", "journal": "Blood", "date": "2000", "authors": "Billard C, Delaire S, Raffoux E, Bensussan A, Boumsell L", "evidence": [ { "database": "Reactome", "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700" } ], "reference": [ { "type": "PubMed", "id": "10648410", "url": "https://glygen.org/publication/PubMed/10648410" } ] }, { "title": "Identification of CD72 as a lymphocyte receptor for the class IV semaphorin CD100: a novel mechanism for regulating B cell signaling.", "journal": "Immunity", "date": "2000", "authors": "Kumanogoh A, Watanabe C, Lee I, Wang X, Shi W, Araki H, Hirata H, Iwahori K, Uchida J, Yasui T, Matsumoto M, Yoshida K, Yakura H, Pan C, Parnes JR, Kikutani H", "evidence": [ { "database": "Reactome", "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700" } ], "reference": [ { "type": "PubMed", "id": "11114375", "url": "https://glygen.org/publication/PubMed/11114375" } ] }, { "title": "Involvement of CD100, a lymphocyte semaphorin, in the activation of the human immune system via CD72: implications for the regulation of immune and inflammatory responses.", "journal": "International immunology", "date": "2003", "authors": "Ishida I, Kumanogoh A, Suzuki K, Akahani S, Noda K, Kikutani H", "evidence": [ { "database": "Reactome", "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700" } ], "reference": [ { "type": "PubMed", "id": "12882840", "url": "https://glygen.org/publication/PubMed/12882840" } ] }, { "title": "Plexin-B3 is a functional receptor for semaphorin 5A.", "journal": "EMBO reports", "date": "2004", "authors": "Artigiani S, Conrotto P, Fazzari P, Gilestro GF, Barberis D, Giordano S, Comoglio PM, Tamagnone L", "evidence": [ { "database": "Reactome", "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700" } ], "reference": [ { "type": "PubMed", "id": "15218527", "url": "https://glygen.org/publication/PubMed/15218527" } ] }, { "title": "SEMA3E mutation in a patient with CHARGE syndrome.", "journal": "Journal of medical genetics", "date": "2004", "authors": "Lalani SR, Safiullah AM, Molinari LM, Fernbach SD, Martin DM, Belmont JW", "evidence": [ { "database": "UniProtKB", "id": "O15041", "url": "https://www.uniprot.org/uniprot/O15041" }, { "database": "RefSeq", "id": "NP_001171600", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001171600" } ], "reference": [ { "type": "PubMed", "id": "15235037", "url": "https://glygen.org/publication/PubMed/15235037" } ] }, { "title": "Semaphorin 3E and plexin-D1 control vascular pattern independently of neuropilins.", "journal": "Science (New York, N.Y.)", "date": "2005", "authors": "Gu C, Yoshida Y, Livet J, Reimert DV, Mann F, Merte J, Henderson CE, Jessell TM, Kolodkin AL, Ginty DD", "evidence": [ { "database": "Reactome", "id": "R-HSA-416700", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-416700" } ], "reference": [ { "type": "PubMed", "id": "15550623", "url": "https://glygen.org/publication/PubMed/15550623" } ] }, { "title": "Plexin-A1 and its interaction with DAP12 in immune responses and bone homeostasis.", "journal": "Nature cell biology", "date": "2006", "authors": "Takegahara N, 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