{ "uniprot_canonical_ac": "O96014-1", "uniprot_ac": "O96014", "uniprot_id": "WNT11_HUMAN", "mass": { "chemical_mass": 39179.0, "monoisotopic_mass": 39179.0 }, "refseq": { "ac": "NP_004617", "name": "protein Wnt-11 precursor", "summary": "The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 97%, 85%, and 63% amino acid identity with mouse, chicken, and Xenopus Wnt11 protein, respectively. This gene may play roles in the development of skeleton, kidney and lung, and is considered to be a plausible candidate gene for High Bone Mass Syndrome. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004617" }, "gene_names": [ { "name": "WNT11", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O96014", "id": "O96014" }, { "name": "HWNT11", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004617", "id": "NP_004617" }, { "name": "WNT11", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004617", "id": "NP_004617" } ], "protein_names": [ { "name": "Protein Wnt-11", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O96014" }, { "name": "protein Wnt-11 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004617", "id": "NP_004617" }, { "name": "protein Wnt-11; wingless-type MMTV integration site family, member 11", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004617", "id": "NP_004617" } ], "function": [ { "annotation": "Cardiac Wnt5a and Wnt11 promote fibrosis by the crosstalk of FZD5 and EGFR signaling under pressure overload. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004617", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004617" }, { "database": "PubMed", "id": "34564708", "url": "https://glygen.org/publication/PubMed/34564708" } ] }, { "annotation": "Inhibition of Wnt11 impairs the osteogenesis and aggravates the inflammatory response of human mesenchymal stem cells under LPS-induced inflammatory condition.", "evidence": [ { "database": "RefSeq", "id": "NP_004617", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004617" }, { "database": "PubMed", "id": "37087802", "url": "https://glygen.org/publication/PubMed/37087802" } ] }, { "annotation": "Ligand for members of the frizzled family of seven transmembrane receptors. Probable developmental protein. May be a signaling molecule which affects the development of discrete regions of tissues. Is likely to signal over only few cell diameters.", "evidence": [ { "database": "UniProtKB", "id": "O96014", "url": "https://www.uniprot.org/uniprot/O96014#function" } ] }, { "annotation": "Noncanonical Wnt Signaling Promotes Myofibroblast Differentiation in Pulmonary Fibrosis.", "evidence": [ { "database": "RefSeq", "id": "NP_004617", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004617" }, { "database": "PubMed", "id": "34107237", "url": "https://glygen.org/publication/PubMed/34107237" } ] }, { "annotation": "The WNT gene family consists of structurally related genes which encode secreted signaling proteins. These proteins have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis. This gene is a member of the WNT gene family. It encodes a protein which shows 97%, 85%, and 63% amino acid identity with mouse, chicken, and Xenopus Wnt11 protein, respectively. This gene may play roles in the development of skeleton, kidney and lung, and is considered to be a plausible candidate gene for High Bone Mass Syndrome. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_004617", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004617" } ] }, { "annotation": "WNT11 is a direct target of early growth response protein 1.", "evidence": [ { "database": "RefSeq", "id": "NP_004617", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004617" }, { "database": "PubMed", "id": "32635983", "url": "https://glygen.org/publication/PubMed/32635983" } ] }, { "annotation": "WNT11 mRNA was up-regulated in four cases of colorectal adenocarcinoma, and a case of renal cell carcinoma. Up-regulation of WNT11 mRNA might play an important role in human carcinogenesis through activation of the WNT signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_004617", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004617" }, { "database": "PubMed", "id": "11712081", "url": "https://glygen.org/publication/PubMed/11712081" } ] }, { "annotation": "WNT11-Conditioned Medium Promotes Angiogenesis through the Activation of Non-Canonical WNT-PKC-JNK Signaling Pathway. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_004617", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004617" }, { "database": "PubMed", "id": "33137935", "url": "https://glygen.org/publication/PubMed/33137935" } ] }, { "annotation": "Wnt11 promotes cardiac differentiation via the non-canonical PKC-dependent signaling pathway", "evidence": [ { "database": "RefSeq", "id": "NP_004617", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004617" }, { "database": "PubMed", "id": "15701629", "url": "https://glygen.org/publication/PubMed/15701629" } ] }, { "annotation": "Wnt11 stimulates proliferation, migration, cytoskeletal rearrangement, and contact-independent growth by a beta-catenin-independent mechanism", "evidence": [ { "database": "RefSeq", "id": "NP_004617", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_004617" }, { "database": "PubMed", "id": "15084607", "url": "https://glygen.org/publication/PubMed/15084607" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs1399310579", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1399310579" }, { "id": "rs1399310579", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1399310579" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 160, "end_pos": 160, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->SLS).", "chr_id": "11", "chr_pos": "76194685", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N160", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1315047010", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1315047010" }, { "id": "rs1315047010", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1315047010#frequency_tab" }, { "id": "rs1315047010", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1315047010" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 162, "end_pos": 162, "sequence_org": "S", "sequence_mut": "G", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NLS->NLG).", "chr_id": "11", "chr_pos": "76194680", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S162", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1320348614", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1320348614" }, { "id": "rs1320348614", "database": "NCI-TCGA", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1320348614" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 181, "end_pos": 181, "sequence_org": "T", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (TGS->NGS).", "chr_id": "11", "chr_pos": "76194622_76194623i", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "T181", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O96014", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O96014" } ], "glycoeffect": [], "start_pos": 221, "end_pos": 221, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "76191793", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R221", "disease": [ { "disease_id": "DOID:1612", "recommended_name": { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast cancer", "description": "A thoracic cancer that originates in the mammary gland." }, "synonyms": [ { "id": "DOID:1612", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1612", "name": "breast tumor", "description": "" }, { "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 developed in relatives of patients with history of breast carcinoma." }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer susceptibility, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "breast cancer, lobular, somatic", "description": "" }, { "id": "MONDO:0016419", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0016419", "name": "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" } ] }, { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", 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4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm 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"MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, resistance to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung neoplasm", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumor", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant lung tumour", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant neoplasm of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumor of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "malignant tumour of the lung", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, somatic", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "Nonsmall cell lung cancer", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "alveolar cell carcinoma", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer, protection against", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung neoplasm", "description": "" }, { "id": "MIM:211980", "resource": "MIM", "url": "https://www.omim.org/entry/211980", "name": "Lung cancer", "description": "Lung cancer" } ] }, { "disease_id": "DOID:1319", "recommended_name": { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain cancer", "description": "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain." }, "synonyms": [ { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "BT - Brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult brain tumor", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "adult malignant brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "brain neoplasm, adult", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant brain tumour", "description": "" }, { "id": "DOID:1319", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1319", "name": "malignant primary brain neoplasm", "description": "" }, { "id": "DOID:1319", "resource": "Disease 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"name": "positive regulation of protein kinase C signaling", "id": "GO:0090037", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0090037", "evidence": [ { "database": "UniProtKB", "id": "O96014", "url": "https://www.uniprot.org/uniprot/O96014" } ], "pmid": "" }, { "name": "atrial septum development", "id": "GO:0003283", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003283", "evidence": [ { "database": "UniProtKB", "id": "O96014", "url": "https://www.uniprot.org/uniprot/O96014" } ], "pmid": "" }, { "name": "protein localization to cell surface", "id": "GO:0034394", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0034394", "evidence": [ { "database": "UniProtKB", "id": "O96014", "url": "https://www.uniprot.org/uniprot/O96014" } ], "pmid": "" }, { "name": "artery morphogenesis", "id": "GO:0048844", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048844", "evidence": [ { "database": "UniProtKB", "id": "O96014", "url": "https://www.uniprot.org/uniprot/O96014" } ], "pmid": "" }, { "name": 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