{ "uniprot_canonical_ac": "O60487-1", "uniprot_ac": "O60487", "uniprot_id": "MPZL2_HUMAN", "mass": { "chemical_mass": 24484.0, "monoisotopic_mass": 24484.0 }, "refseq": { "ac": "NP_005788", "name": "myelin protein zero-like protein 2 precursor", "summary": "Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788" }, "gene_names": [ { "name": "MPZL2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O60487", "id": "O60487" }, { "name": "DFNB111; EVA; EVA1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788", "id": "NP_005788" }, { "name": "EVA1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60487", "id": "O60487" }, { "name": "EVA", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60487", "id": "O60487" }, { "name": "MPZL2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788", "id": "NP_005788" }, { "name": "PRO1192", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O60487", "id": "O60487" } ], "protein_names": [ { "name": "Myelin protein zero-like protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O60487" }, { "name": "Epithelial V-like antigen 1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O60487" }, { "name": "epithelial V-like antigen 1; myelin protein zero-like protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788", "id": "NP_005788" }, { "name": "myelin protein zero-like protein 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788", "id": "NP_005788" } ], "function": [ { "annotation": "A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family.", "evidence": [ { "database": "RefSeq", "id": "NP_005788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788" }, { "database": "PubMed", "id": "33234333", "url": "https://glygen.org/publication/PubMed/33234333" } ] }, { "annotation": "EVA is expressed in human choroid plexus epithelial cells and CD4 T lymphocytes and regulates CD4+ T lymphocyte adhesion to human choroid plexus epithelial cells in vitro. These data suggest a novel mechanism to regulate CNS immune surveillance.", "evidence": [ { "database": "RefSeq", "id": "NP_005788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788" }, { "database": "PubMed", "id": "21440040", "url": "https://glygen.org/publication/PubMed/21440040" } ] }, { "annotation": "Epithelial V-like antigen 1 (EVA1) expression is increased in hepatocellular carcinoma (HCC) and is associated with a poor prognosis and recurrence in HCC patients. Overexpression of EVA1 promotes cell growth, invasion and migration in vitro. EVA1 is able to upregulate the expression of genes in the ERBB3-PI3K pathway. An increased level of AKT phosphorylation is detected in HCC cells after EVA1 overexpression.", "evidence": [ { "database": "RefSeq", "id": "NP_005788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788" }, { "database": "PubMed", "id": "31997489", "url": "https://glygen.org/publication/PubMed/31997489" } ] }, { "annotation": "Findings highlight Eva1 as a novel regulator of GIC function and also provide new mechanistic insight into the role of noncanonical NF-kappaB activation in GIC.", "evidence": [ { "database": "RefSeq", "id": "NP_005788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788" }, { "database": "PubMed", "id": "26677976", "url": "https://glygen.org/publication/PubMed/26677976" } ] }, { "annotation": "MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients.", "evidence": [ { "database": "RefSeq", "id": "NP_005788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788" }, { "database": "PubMed", "id": "37390746", "url": "https://glygen.org/publication/PubMed/37390746" } ] }, { "annotation": "Mediates homophilic cell-cell adhesion.", "evidence": [ { "database": "UniProtKB", "id": "O60487", "url": "https://www.uniprot.org/uniprot/O60487#function" } ] }, { "annotation": "Thymus development depends on a complex series of interactions between thymocytes and the stromal component of the organ. Epithelial V-like antigen (EVA) is expressed in thymus epithelium and strongly downregulated by thymocyte developmental progression. This gene is expressed in the thymus and in several epithelial structures early in embryogenesis. It is highly homologous to the myelin protein zero and, in thymus-derived epithelial cell lines, is poorly soluble in nonionic detergents, strongly suggesting an association to the cytoskeleton. Its capacity to mediate cell adhesion through a homophilic interaction and its selective regulation by T cell maturation might imply the participation of EVA in the earliest phases of thymus organogenesis. The protein bears a characteristic V-type domain and two potential N-glycosylation sites in the extracellular domain; a putative serine phosphorylation site for casein kinase 2 is also present in the cytoplasmic tail. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_005788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788" } ] }, { "annotation": "Upregulation of FHL1, SPNS3, and MPZL2 predicts poor prognosis in pediatric acute myeloid leukemia patients with FLT3-ITD mutation.", "evidence": [ { "database": "RefSeq", "id": "NP_005788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788" }, { "database": "PubMed", "id": "35249471", "url": "https://glygen.org/publication/PubMed/35249471" } ] }, { "annotation": "We show that Mpzl2 is expressed in mouse inner ear, and the protein localizes in the auditory inner and outer hair cells, with an asymmetric subcellular localization. We thus present MPZL2 as a novel gene associated with sensorineural hearing loss.", "evidence": [ { "database": "RefSeq", "id": "NP_005788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788" }, { "database": "PubMed", "id": "29982980", "url": "https://glygen.org/publication/PubMed/29982980" } ] } ], "disease": [ { "disease_id": "DOID:0111640", "recommended_name": { "id": "DOID:0111640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111640", "name": "autosomal recessive nonsyndromic deafness 111", "description": "An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33." }, "synonyms": [ { "id": "DOID:0111640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111640", "name": "DFNB111", "description": "" }, { "id": "DOID:0111640", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0111640", "name": "autosomal recessive deafness 111", "description": "" }, { "id": "MONDO:0029142", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0029142", "name": "hearing loss, autosomal recessive 111", "description": "" }, { "id": "MONDO:0029142", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0029142", "name": "DFNB111", "description": "" }, { "id": "MONDO:0029142", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0029142", "name": "deafness, autosomal recessive 111", "description": "" }, { "id": "MIM:618145", "resource": "MIM", "url": "https://www.omim.org/entry/618145", "name": "Deafness, autosomal recessive, 111", "description": "Deafness, autosomal recessive, 111" } ], "evidence": [ { "id": "618145", "database": "MIM", "url": "https://www.omim.org/entry/618145" } ] } ], "snv": [ { "evidence": [ { "id": "rs778062533", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778062533" }, { "id": "rs778062533", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs778062533" }, { "id": "rs778062533", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs778062533#frequency_tab" }, { "id": "rs778062533", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs778062533" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 105, "end_pos": 105, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DAS->NAS).", "chr_id": "11", "chr_pos": "118262561", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D105", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs139437329", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139437329" }, { "id": "rs139437329", "database": "1000Genomes", "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs139437329" }, { "id": "rs139437329", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs139437329" }, { "id": "rs139437329", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs139437329#frequency_tab" }, { "id": "rs139437329", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs139437329" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 118, "end_pos": 118, "sequence_org": "N", "sequence_mut": "H", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->HGT).", "chr_id": "11", "chr_pos": "118262522", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "0.000399", "site_lbl": "N118", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs918429088", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs918429088" }, { "id": "rs918429088", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs918429088" }, { "id": "rs918429088", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs918429088#frequency_tab" }, { "id": "rs918429088", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs918429088" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 120, "end_pos": 120, "sequence_org": "T", "sequence_mut": "I", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NGT->NGI).", "chr_id": "11", "chr_pos": "118262515", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T120", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1253803266", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1253803266" }, { "id": "rs1253803266", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1253803266#frequency_tab" } ], "glycoeffect": [ "o-glyco-site-loss" ], "start_pos": 6, "end_pos": 6, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (S->P).", "chr_id": "11", "chr_pos": "118264138", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S6", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "75.16", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149573" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "97.1", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149573" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "79.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149573" } ] }, { "tissue": { "name": "Uterus", "namespace": "UBERON", "id": "0000995", "url": "http://purl.obolibrary.org/obo/UBERON_0000995" }, "score": "60", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000149573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149573" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "76.05", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149573" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "95.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149573" } ] }, { "tissue": { "name": "Colon", "namespace": "UBERON", "id": "0001155", "url": "http://purl.obolibrary.org/obo/UBERON_0001155" }, "score": "63.64", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149573" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "91.92", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149573" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "92.85", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149573" } ] }, { "tissue": { "name": "Lung", "namespace": "UBERON", "id": "0002048", "url": "http://purl.obolibrary.org/obo/UBERON_0002048" }, "score": "73.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000149573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149573" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "82.81", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149573" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "95.84", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149573" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "87.22", "present": "HIGH", "evidence": [ { "database": "Bgee", "id": "ENSG00000149573", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000149573" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "O60487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60487" } ], "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", "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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, on chromosome 7", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "prostate cancer, hereditary, 13", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012758", "name": "MSMB familial prostate cancer", "description": "" }, { "id": "MONDO:0012758", "resource": "MONDO", "url": "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", 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"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, 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 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", 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"BioXpress", "id": "O60487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60487" } ], "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": 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"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", 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}, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant neoplasm of breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "malignant tumor of the breast", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary cancer", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "mammary tumor", "description": "" }, { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "primary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "Breast carcinoma that has 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"breast cancer, male, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, protection against, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "familial cancer of the breast", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast cancer", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "hereditary breast carcinoma", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, familial 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": "O60487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60487" } ], "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", "url": "http://disease-ontology.org/term/DOID:1781", "name": "Thyroid gland neoplasm", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "malignant tumour of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "neoplasm of thyroid gland", "description": "" }, { "id": "DOID:1781", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1781", "name": "thyroid neoplasm", "description": "" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Kidney cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:263", "evidence": [ { "database": "BioXpress", "id": "O60487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60487" } ], "disease": [ { "disease_id": "DOID:263", "recommended_name": { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "kidney cancer", "description": "A urinary system cancer that is located_in the kidney." }, "synonyms": [ { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant neoplasm of kidney except pelvis", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "malignant tumour of kidney", "description": "" }, { "id": "DOID:263", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:263", "name": "renal cancer", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Liver cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:3571", "evidence": [ { "database": "BioXpress", "id": "O60487", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O60487" } ], "disease": [ { "disease_id": "DOID:3571", "recommended_name": { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "liver cancer", "description": "A hepatobiliary system cancer that is located_in the liver." }, "synonyms": [ { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Ca liver - primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "Resectable malignant neoplasm of Liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic cancer", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "hepatic neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant hepato-biliary neoplasm", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant neoplasm of liver, primary", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "malignant tumor of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": "neoplasm of liver", "description": "" }, { "id": "DOID:3571", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3571", "name": 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"http://www.pantherdb.org/panther/family.do?clsAccession=PTHR13869:SF21", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF07686", "url": "http://pfam.xfam.org/family/PF07686", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "O60487", "url": "https://pharos.nih.gov/targets/O60487", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR_O60487", "url": "http://purl.obolibrary.org/obo/PR_O60487", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_005788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "O60487", "url": "DISABLED", "database": "UniCarbKB", "categories": [ "Glycoproteomics" ] }, { "id": "O60487", "url": "https://www.uniprot.org/uniprot/O60487", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O60487-1", "url": "https://www.uniprot.org/uniprot/O60487-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MYGKSSTRAVLLLLGIQLTALWPIAAVEIYTSRVLEAVNGTDARLKCTFSSFAPVGDALTVTWNFRPLDGGPEQFVFYYHIDPFQPMSGRFKDRVSWDGNPERYDASILLWKLQFDDNGTYTCQVKNPPDVDGVIGEIRLSVVHTVRFSEIHFLALAIGSACALMIIIVIVVVLFQHYRKKRWAERAHKVVEIKSKEEERLNQEKKVSVYLEDTD", "length": 215, "header": "sp|O60487-1|MPZL2_HUMAN Isoform 1 of Myelin protein zero-like protein 2 OS=Homo sapiens OX=9606 GN=MPZL2 PE=1 SV=1 CANONICAL=O60487-1" }, "isoforms": [ { "isoform_ac": "O60487-1", "url": "", "sequence": { "sequence": "MYGKSSTRAVLLLLGIQLTALWPIAAVEIYTSRVLEAVNGTDARLKCTFSSFAPVGDALTVTWNFRPLDGGPEQFVFYYHIDPFQPMSGRFKDRVSWDGNPERYDASILLWKLQFDDNGTYTCQVKNPPDVDGVIGEIRLSVVHTVRFSEIHFLALAIGSACALMIIIVIVVVLFQHYRKKRWAERAHKVVEIKSKEEERLNQEKKVSVYLEDTD", "length": 215, "header": "sp|O60487-1|MPZL2_HUMAN Isoform 1 of Myelin protein zero-like protein 2 OS=Homo sapiens OX=9606 GN=MPZL2 PE=1 SV=1 CANONICAL=O60487-1" }, "locus": { "chromosome": "11", "start_pos": 118264153, "end_pos": 118257253, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000278937.7", "url": "https://www.ensembl.org/id/ENST00000278937.7" }, { "database": "Ensembl Peptide", "id": "ENSP00000278937.2", "url": "https://www.ensembl.org/id/ENSP00000278937.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn118", "evidence": [ { "id": "1528", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1528" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 118, "start_aa": "Asn", "end_pos": 118, "end_aa": "Asn", 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"site_lbl": "Asn118", "evidence": [ { "id": "O60487", "database": "UniCarbKB", "url": "" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" }, { "id": "O60487", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60487#ptm_processing" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "G12313PD", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "1528", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1528" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G20210JR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "1528", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1528" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G23294PN", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "1528", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1528" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G48584BU", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "1528", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1528" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G51640FO", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "1528", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1528" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G55383ZG", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "1528", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1528" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "1528", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1528" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "1528", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1528" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G83229XP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "1528", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1528" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 39, "start_aa": "Asn", "end_pos": 39, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn39", "evidence": [ { "id": "O60487", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O60487#ptm_processing" }, { "id": "19159218", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/19159218" }, { "id": "24190977", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/24190977" }, { "id": "GLY_000143", "database": "GlyGen", "url": "https://data.glygen.org/GLY_000143" }, { "id": "23090970", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 5, "start_aa": "Ser", "end_pos": 5, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser5", "evidence": [ { "id": "O60487", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60487" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 6, "start_aa": "Ser", "end_pos": 6, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser6", "evidence": [ { "id": "O60487", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/O60487" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "evidence": [ { "id": "O60487", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60487" }, { "id": "30379171", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30379171" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.", "journal": "Genome Res.", "date": "2003", "authors": "Clark HF, Gurney AL, Abaya E, Baker K, Baldwin D, Brush J, Chen J, Chow B, Chui C, Crowley C, Currell B, Deuel B, Dowd P, Eaton D, Foster J, Grimaldi C, Gu Q, Hass PE, Heldens S, Huang A, Kim HS, Klimowski L, Jin Y, Johnson S, Lee J, Lewis L, Liao D, Mark M, Robbie E, Sanchez C, Schoenfeld J, Seshagiri S, Simmons L, Singh J, Smith V, Stinson J, Vagts A, Vandlen R, Watanabe C, Wieand D, Woods K, Xie MH, Yansura D, Yi S, Yu G, Yuan J, Zhang M, Zhang Z, Goddard A, Wood WI, Godowski P, Gray A", "evidence": [ { "database": "UniProtKB", "id": "O60487", "url": "https://www.uniprot.org/uniprot/O60487" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.", "journal": "Journal of proteome research", "date": "2009", "authors": "Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H", "evidence": [ { "database": "UniProtKB", "id": "O60487", "url": "https://www.uniprot.org/uniprot/O60487#ptm_processing" }, { "database": "UniProtKB", "id": "O60487", "url": "https://www.uniprot.org/uniprot/O60487" } ], "reference": [ { "type": "PubMed", "id": "19159218", "url": "https://glygen.org/publication/PubMed/19159218" } ] }, { "title": "Characterization of epithelial V-like antigen in human choroid plexus epithelial cells: potential role in CNS immune surveillance.", "journal": "Neuroscience letters", "date": "2011", "authors": "Wojcik E, Carrithers LM, Carrithers MD", "evidence": [ { "database": "RefSeq", "id": "NP_005788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788" } ], "reference": [ { "type": "PubMed", "id": "21440040", "url": "https://glygen.org/publication/PubMed/21440040" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Eva1 Maintains the Stem-like Character of Glioblastoma-Initiating Cells by Activating the Noncanonical NF-kappaB Signaling Pathway.", "journal": "Cancer research", "date": "2016", "authors": "Ohtsu N, Nakatani Y, Yamashita D, Ohue S, Ohnishi T, Kondo T", "evidence": [ { "database": "RefSeq", "id": "NP_005788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788" } ], "reference": [ { "type": "PubMed", "id": "26677976", "url": "https://glygen.org/publication/PubMed/26677976" } ] }, { "title": "Reanalysis of Global Proteomic and Phosphoproteomic Data Identified a Large Number of Glycopeptides.", "journal": "Analytical chemistry", "date": "2018", "authors": "Hu Y, Shah P, Clark DJ, Ao M, Zhang H", "evidence": [ { "database": "UniCarbKB", "id": "O60487", "url": "" }, { "database": "GlyConnect", "id": "1528", "url": "https://glyconnect.expasy.org/browser/proteins/1528" } ], "reference": [ { "type": "PubMed", "id": "29741879", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "title": "MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.", "journal": "American journal of human genetics", "date": "2018", "authors": "Wesdorp M, Murillo-Cuesta S, Peters T, Celaya AM, Oonk A, Schraders M, Oostrik J, Gomez-Rosas E, Beynon AJ, Hartel BP, Okkersen K, Koenen HJPM, Weeda J, Lelieveld S, Voermans NC, Joosten I, Hoyng CB, Lichtner P, Kunst HPM, Feenstra I, de Bruijn SE, Admiraal RJC, Yntema HG, van Wijk E, Del Castillo I, Serra P, Varela-Nieto I, Pennings RJE, Kremer H", "evidence": [ { "database": "UniProtKB", "id": "O60487", "url": "https://www.uniprot.org/uniprot/O60487" } ], "reference": [ { "type": "PubMed", "id": "29961571", "url": "https://glygen.org/publication/PubMed/29961571" } ] }, { "title": "MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.", "journal": "Hum. Genet.", "date": "2018", "authors": "Bademci G, Abad C, Incesulu A, Rad A, Alper O, Kolb SM, Cengiz FB, Diaz-Horta O, Silan F, Mihci E, Ocak E, Najafi M, Maroofian R, Yilmaz E, Nur BG, Duman D, Guo S, Sant DW, Wang G, Monje PV, Haaf T, Blanton SH, Vona B, Walz K, Tekin M", "evidence": [ { "database": "UniProtKB", "id": "O60487", "url": "https://www.uniprot.org/uniprot/O60487" }, { "database": "RefSeq", "id": "NP_005788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788" } ], "reference": [ { "type": "PubMed", "id": "29982980", "url": "https://glygen.org/publication/PubMed/29982980" } ] }, { "title": "A triarylphosphine-trimethylpiperidine reagent for the one-step derivatization and enrichment of protein post-translational modifications and identification by mass spectrometry.", "journal": "Chemical communications (Cambridge, England)", "date": "2018", "authors": "Huo B, Zhang W, Zhao X, Dong H, Yu Y, Wang J, Qian X, Qin W", "evidence": [ { "database": "O-GlcNAc Database", "id": "O60487", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=O60487" }, { "database": "O-GlcNAc Atlas", "id": "O60487", "url": "https://oglcnac.org/atlas/detail/O60487" } ], "reference": [ { "type": "PubMed", "id": "30379171", "url": "https://glygen.org/publication/PubMed/30379171" } ] }, { "title": "Epithelial V-like antigen 1 promotes hepatocellular carcinoma growth and metastasis via the ERBB-PI3K-AKT pathway.", "journal": "Cancer science", "date": "2020", "authors": "Ni Q, Chen Z, Zheng Q, Xie D, Li JJ, Cheng S, Ma X", "evidence": [ { "database": "RefSeq", "id": "NP_005788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788" } ], "reference": [ { "type": "PubMed", "id": "31997489", "url": "https://glygen.org/publication/PubMed/31997489" } ] }, { "title": "A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family.", "journal": "International journal of pediatric otorhinolaryngology", "date": "2021", "authors": "Amalou G, Bonnet C, Riahi Z, Bouzidi A, Elrharchi S, Bousfiha A, Charif M, Kandil M, Lenaers G, Petit C, Barakat A", "evidence": [ { "database": "RefSeq", "id": "NP_005788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788" } ], "reference": [ { "type": "PubMed", "id": "33234333", "url": "https://glygen.org/publication/PubMed/33234333" } ] }, { "title": "Upregulation of FHL1, SPNS3, and MPZL2 predicts poor prognosis in pediatric acute myeloid leukemia patients with FLT3-ITD mutation.", "journal": "Leukemia & lymphoma", "date": "2022", "authors": "Eshibona N, Giwa A, Rossouw SC, Gamieldien J, Christoffels A, Bendou H", "evidence": [ { "database": "RefSeq", "id": "NP_005788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788" } ], "reference": [ { "type": "PubMed", "id": "35249471", "url": "https://glygen.org/publication/PubMed/35249471" } ] }, { "title": "MPZL2 variant analysis with whole exome sequencing in a cohort of Chinese hearing loss patients.", "journal": "International journal of pediatric otorhinolaryngology", "date": "2023-08", "authors": "Li Weitao, Guo Luo, Chen Bing, Shu Yilai, Li Huawei", "evidence": [ { "database": "RefSeq", "id": "NP_005788", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_005788" } ], "reference": [ { "type": "PubMed", "id": "37390746", "url": "https://glygen.org/publication/PubMed/37390746" } ] }, { "title": "Epithelial V-like antigen (EVA), a novel member of the immunoglobulin superfamily, expressed in embryonic epithelia with a potential role as homotypic adhesion molecule in thymus histogenesis.", "journal": "J. Cell Biol.", "date": "1998", "authors": "Guttinger M, Sutti F, Panigada M, Porcellini S, Merati B, Mariani M, Teesalu T, Consalez G G, Grassi F", "evidence": [ { "database": "UniProtKB", "id": "O60487", "url": "https://www.uniprot.org/uniprot/O60487" } ], "reference": [ { "type": "PubMed", "id": "9585423", "url": "https://glygen.org/publication/PubMed/9585423" } ] } ], "pathway": [ { "id": "hsa:10205", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:10205", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D4AAE2-1", "protein_name": "Myelin protein zero-like 2", "gene_name": "Mpzl2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MYGKSLARVLPFLLSLQLTVFYPTTAVEIYTSGALEAVNGTDIRLKCTFSSFAPVGDALTVTWNFRPRDGGREQFVFYYHMDPFRPMSGRFKDRVVWDGNPERYDVSIMLWKLQFDDNGTYTCQVKNPPDVDGLIGTIRLSVVHTVPFSEIYFLAVAIGSACALMIIIVIVVVLFQHFRKKRWAERADKSEGTKSKEEEKLNQGTKVSVYVEDTD", "length": 215 }, "evidence": [ { "id": "45918660", "url": 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"evidence": [ { "database": "UniProtKB", "id": "O60487", "url": "https://www.uniprot.org/uniprot/O60487" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 118, "end_pos": 120, "annotation": "n_glycosylation_sequon" }, { "start_pos": 39, "end_pos": 41, "annotation": "n_glycosylation_sequon" } ], "ptm_annotation": [], "interactions": [], "reactions": [], "reaction_participants": [], "reaction_enzymes": [], "biomarkers": [], "synthesized_glycans": [], "cluster_types": [ { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "sequence_features": { "n_linked_sites": [ 39, 118 ], "o_linked_sites": [ 5, 6 ], "snv_sites": [ 6, 105, 118, 120 ], "glycation_sites": [], "phosphorylation_sites": [], "sequon_annotation_sites": [ { "start_pos": 118, "end_pos": 120 }, { "start_pos": 39, "end_pos": 41 } ] }, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 17 }, { 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