{ "uniprot_canonical_ac": "Q9H1J5-1", "uniprot_ac": "Q9H1J5", "uniprot_id": "WNT8A_HUMAN", "mass": { "chemical_mass": 38849.0, "monoisotopic_mass": 38849.0 }, "refseq": { "ac": "NP_001287868", "name": "protein Wnt-8a isoform 2 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, and may be implicated in development of early embryos as well as germ cell tumors. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287868" }, "gene_names": [ { "name": "WNT8A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q9H1J5", "id": "Q9H1J5" }, { "name": "WNT8A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287867", "id": "NP_001287867" }, { "name": "WNT8D", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287867", "id": "NP_001287867" }, { "name": "WNT8D", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q9H1J5", "id": "Q9H1J5" } ], "protein_names": [ { "name": "Protein Wnt-8a", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q9H1J5" }, { "name": "Protein Wnt-8d", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q9H1J5" }, { "name": "WNT8d; protein Wnt-8a; protein Wnt-8d; wingless-type MMTV integration site family, member 8A", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287868", "id": "NP_001287868" }, { "name": "protein Wnt-8a isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287867", "id": "NP_001287867" }, { "name": "protein Wnt-8a isoform 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287868", "id": "NP_001287868" } ], "function": [ { "annotation": "Expression and regulation of WNT8A mRNA in human tumor cell lines", "evidence": [ { "database": "RefSeq", "id": "NP_001287867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287867" }, { "database": "PubMed", "id": "11956596", "url": "https://glygen.org/publication/PubMed/11956596" }, { "database": "RefSeq", "id": "NP_001287868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287868" } ] }, { "annotation": "Here, we show that Wnt/planar cell polarity (PCP) autocrine signaling controls the emergence of cytonemes, and that cytonemes subsequently control paracrine Wnt/beta-catenin signal activation. Upon binding of the Wnt family member Wnt8a, the receptor tyrosine kinase Ror2 becomes activated. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_001287867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287867" }, { "database": "PubMed", "id": "30060804", "url": "https://glygen.org/publication/PubMed/30060804" }, { "database": "RefSeq", "id": "NP_001287868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287868" } ] }, { "annotation": "Ligand for members of the frizzled family of seven transmembrane receptors.", "evidence": [ { "database": "UniProtKB", "id": "D6RF94", "url": "https://www.uniprot.org/uniprot/D6RF94#function" }, { "database": "UniProtKB", "id": "RU003500", "url": "https://www.uniprot.org/uniprot/RU003500#function" }, { "database": "UniProtKB", "id": "D6RF47", "url": "https://www.uniprot.org/uniprot/D6RF47#function" } ] }, { "annotation": "Ligand for members of the frizzled family of seven transmembrane receptors. Plays a role in embryonic patterning.", "evidence": [ { "database": "UniProtKB", "id": "Q9H1J5", "url": "https://www.uniprot.org/uniprot/Q9H1J5#function" }, { "database": "UniProtKB", "id": "P51028", "url": "https://www.uniprot.org/uniprot/P51028#function" } ] }, { "annotation": "Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)", "evidence": [ { "database": "RefSeq", "id": "NP_001287867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287867" }, { "database": "PubMed", "id": "18413325", "url": "https://glygen.org/publication/PubMed/18413325" }, { "database": "RefSeq", "id": "NP_001287868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287868" } ] }, { "annotation": "Structural Basis of WLS/Evi-Mediated Wnt Transport and Secretion.", "evidence": [ { "database": "RefSeq", "id": "NP_001287867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287867" }, { "database": "PubMed", "id": "33357447", "url": "https://glygen.org/publication/PubMed/33357447" }, { "database": "RefSeq", "id": "NP_001287868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287868" } ] }, { "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, and may be implicated in development of early embryos as well as germ cell tumors. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_001287867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287867" }, { "database": "RefSeq", "id": "NP_001287868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287868" } ] }, { "annotation": "The WNT8A gene is involved in the susceptibility to HSCR, and plays an important role in the occurrence and development of Hirschsprung's disease.", "evidence": [ { "database": "RefSeq", "id": "NP_001287867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287867" }, { "database": "PubMed", "id": "23836442", "url": "https://glygen.org/publication/PubMed/23836442" }, { "database": "RefSeq", "id": "NP_001287868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287868" } ] } ], "disease": [], "snv": [ { "evidence": [ { "id": "rs752930646", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752930646" }, { "id": "rs752930646", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs752930646" }, { "id": "rs752930646", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs752930646" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 115, "end_pos": 115, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DGS->NGS).", "chr_id": "5", "chr_pos": "138087907", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D115", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs760672272", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760672272" }, { "id": "rs760672272", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs760672272" }, { "id": "rs760672272", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs760672272#frequency_tab" }, { "id": "rs760672272", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs760672272" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 166, "end_pos": 166, "sequence_org": "R", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NNR->NNS).", "chr_id": "5", "chr_pos": "138089057", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "R166", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "Q9H1J5", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/Q9H1J5" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 167, "end_pos": 167, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "A", "sequence_mut": "T", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (NRA->NRT).", "chr_id": "5", "chr_pos": "138089058", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "A167", "disease": [ { "disease_id": "DOID:4159", "recommended_name": { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "skin cancer", "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells." }, "synonyms": [ { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "CA - skin cancer", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "malignant neoplasm of skin", "description": "" }, { "id": "DOID:4159", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4159", "name": "melanoma and Non-melanoma skin cancer", "description": "" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs767176090", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767176090" }, { "id": "rs767176090", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs767176090" }, { "id": "rs767176090", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs767176090#frequency_tab" }, { "id": "rs767176090", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs767176090" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 231, "end_pos": 231, "sequence_org": "A", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NSA->NST).", "chr_id": "5", "chr_pos": "138090708", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "A231", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs977841556", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs977841556" }, { "id": "rs977841556", "database": "ENSEMBL", "url": "https://www.ensembl.org/id/rs977841556" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 262, "end_pos": 262, "sequence_org": "N", "sequence_mut": "T", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->TSS).", "chr_id": "5", "chr_pos": "138090802", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N262", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1185257437", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1185257437" }, { "id": "rs1185257437", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1185257437#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-loss" ], "start_pos": 281, "end_pos": 281, "sequence_org": "N", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->STS).", "chr_id": "5", "chr_pos": "138090859", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N281", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1404204958", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1404204958" }, { "id": "rs1404204958", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1404204958" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 283, "end_pos": 283, "sequence_org": "S", "sequence_mut": "C", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NTC).", "chr_id": "5", "chr_pos": "138090865", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S283", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs957680008", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs957680008" }, { "id": "rs957680008", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs957680008#frequency_tab" }, { "id": "rs957680008", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs957680008" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 283, "end_pos": 283, "sequence_org": "S", "sequence_mut": "P", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NTS->NTP).", "chr_id": "5", "chr_pos": "138090864", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S283", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "23.48", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000061492", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000061492" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "16.41", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000061492", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000061492" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "17.43", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000061492", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000061492" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "16.94", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000061492", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000061492" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "23.04", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000061492", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000061492" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "24.52", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000061492", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000061492" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "21.36", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000061492", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000061492" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "28.64", "present": "ABSENT", "evidence": [ { "database": "Bgee", "id": "ENSG00000061492", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000061492" } ] }, { "tissue": { "name": "Thoracic 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"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", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "prostate cancer, hereditary, type 8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "HPC8", "description": "" }, { "id": "MONDO:0011270", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011270", "name": "predisposing for prostate cancer", "description": "" }, { "id": "MONDO:0011270", "resource": "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, 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", "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": "Yes", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q9H1J5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H1J5" } ], "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 of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumor of the stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of body of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of greater curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "malignant tumour of lesser curve of stomach", "description": "" }, { "id": "MONDO:0001056", "resource": "MONDO", "url": "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", "url": "https://monarchinitiative.org/disease/MONDO:0001056", "name": "gastric cancer, intestinal", "description": "" }, { "id": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q9H1J5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H1J5" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck cancer", "description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx." }, "synonyms": [ { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ] } ] }, { "significant": "No", "trend": "up", "name": "Lung cancer [DO disease name]", "url": "http://disease-ontology.org/term/DOID:1324", "evidence": [ { "database": "BioXpress", "id": "Q9H1J5", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q9H1J5" } ], "disease": [ { "disease_id": "DOID:1324", "recommended_name": { "id": "DOID:1324", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1324", "name": "lung cancer", "description": "A respiratory system cancer that is located_in the lung." }, "synonyms": [ { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "LNCR1", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility", "description": "" }, { "id": "MONDO:0012159", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012159", "name": "lung cancer susceptibility 1", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "LNCR3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "lung cancer susceptibility 3", "description": "" }, { "id": "MONDO:0012942", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012942", "name": "adenocarcinoma of lung, susceptibility to", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "LNCR4", "description": "" }, { "id": "MONDO:0012955", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012955", "name": "lung cancer susceptibility 4", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "LNCR5", "description": "" }, { "id": "MONDO:0013631", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013631", "name": "lung cancer susceptibility 5", "description": "" }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "lung cancer", "description": "A malignant neoplasm involving the lung." }, { "id": "MONDO:0008903", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008903", "name": "adenocarcinoma of lung, response to tyrosine 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"start_pos": 138091070, "end_pos": 138084090, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000398754.1", "url": "https://www.ensembl.org/id/ENST00000398754.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000381739.1", "url": "https://www.ensembl.org/id/ENSP00000381739.1" } ] } }, { "isoform_ac": "Q9H1J5-2", "url": "", "sequence": { "sequence": "MGNLFMLWAALGICCAAFSASAWSVNNFLITGPKAYLTYTTSVALGAQSGIEECKFQFAWERWNCPENALQLSTHNRLRSATRETSFIHAISSAGVMYIITKNCSMGDFENCGCDGSNNGKTGGHGWIWGGCSDNVEFGERISKLFVDSLEKGKDARALMNLHNNRAGRLAVRATMKRTCKCHGISGSCSIQTCWLQLAEFREMGDYLKAKYDQALKIEMDKRQLRAGNSAEGHWVPAEAFLPSAEAELIFLEESPDYCTCNSSLGIYGTEGRECLQNSHNTSRWERRSCGRLCTECGLQVEERKTEVISSCNCKFQWCCTVKCDQCRHVVSKYYCARSPGSAQSLGRVWFGVYI", "length": 355, "header": "sp|Q9H1J5-2|WNT8A_HUMAN Isoform 2 of Protein Wnt-8a OS=Homo sapiens OX=9606 GN=WNT8A PE=1 SV=2 CANONICAL=Q9H1J5-1" }, "locus": { "chromosome": "5", "start_pos": 138091384, "end_pos": 138084090, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000361560.6", "url": "https://www.ensembl.org/id/ENST00000361560.6" }, { "database": "Ensembl Peptide", "id": "ENSP00000354726.2", "url": "https://www.ensembl.org/id/ENSP00000354726.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 103, "start_aa": "Asn", "end_pos": 103, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn103", "evidence": [ { "id": "Q9H1J5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H1J5#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 262, "start_aa": "Asn", "end_pos": 262, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn262", "evidence": [ { "id": "Q9H1J5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H1J5#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 281, "start_aa": "Asn", "end_pos": 281, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn281", "evidence": [ { "id": "Q9H1J5", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q9H1J5#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Biochemical characterization of Wnt-frizzled interactions using a soluble, biologically active vertebrate Wnt protein.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "1999", "authors": "Hsieh JC, Rattner A, Smallwood PM, Nathans J", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "10097073", "url": "https://glygen.org/publication/PubMed/10097073" } ] }, { "title": "beta-catenin can be transported into the nucleus in a Ran-unassisted manner.", "journal": "Molecular biology of the cell", "date": "1999", "authors": "Yokoya F, Imamoto N, Tachibana T, Yoneda Y", "evidence": [ { "database": "Reactome", "id": "R-HSA-201681", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681" } ], "reference": [ { "type": "PubMed", "id": "10198061", "url": "https://glygen.org/publication/PubMed/10198061" } ] }, { "title": "Wnt-induced dephosphorylation of axin releases beta-catenin from the axin complex.", "journal": "Genes & development", "date": "1999", "authors": "Willert K, Shibamoto S, Nusse R", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "10421629", "url": "https://glygen.org/publication/PubMed/10421629" } ] }, { "title": "Axin and Frat1 interact with dvl and GSK, bridging Dvl to GSK in Wnt-mediated regulation of LEF-1.", "journal": "The EMBO journal", "date": "1999", "authors": "Li L, Yuan H, Weaver CD, Mao J, Farr GH 3rd, Sussman DJ, Jonkers J, Kimelman D, Wu D", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "10428961", "url": "https://glygen.org/publication/PubMed/10428961" } ] }, { "title": "A GSK3-binding peptide from FRAT1 selectively inhibits the GSK3-catalysed phosphorylation of axin and beta-catenin.", "journal": "FEBS letters", "date": "1999", "authors": "Thomas GM, Frame S, Goedert M, Nathke I, Polakis P, Cohen P", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "10481074", "url": "https://glygen.org/publication/PubMed/10481074" } ] }, { "title": "A GSK3beta phosphorylation site in axin modulates interaction with beta-catenin and Tcf-mediated gene expression.", "journal": "Biochemical and biophysical research communications", "date": "1999", "authors": "Jho Eh, Lomvardas S, Costantini F", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "10581160", "url": "https://glygen.org/publication/PubMed/10581160" } ] }, { "title": "Interaction among GSK-3, GBP, axin, and APC in Xenopus axis specification.", "journal": "The Journal of cell biology", "date": "2000", "authors": "Farr GH 3rd, Ferkey DM, Yost C, Pierce SB, Weaver C, Kimelman D", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "10684251", "url": "https://glygen.org/publication/PubMed/10684251" } ] }, { "title": "A superfamily of membrane-bound O-acyltransferases with implications for wnt signaling.", "journal": "Trends in biochemical sciences", "date": "2000", "authors": "Hofmann K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "10694878", "url": "https://glygen.org/publication/PubMed/10694878" } ] }, { "title": "GSK-3beta-dependent phosphorylation of adenomatous polyposis coli gene product can be modulated by beta-catenin and protein phosphatase 2A complexed with Axin.", "journal": "Oncogene", "date": "2000", "authors": "Ikeda S, Kishida M, Matsuura Y, Usui H, Kikuchi A", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "10698523", "url": "https://glygen.org/publication/PubMed/10698523" } ] }, { "title": "LDL-receptor-related proteins in Wnt signal transduction.", "journal": "Nature", "date": "2000", "authors": "Tamai K, Semenov M, Kato Y, Spokony R, Liu C, Katsuyama Y, Hess F, Saint-Jeannet JP, He X", "evidence": [ { "database": "Reactome", "id": "R-HSA-201681", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681" } ], "reference": [ { "type": "PubMed", "id": "11029007", "url": "https://glygen.org/publication/PubMed/11029007" } ] }, { "title": "Secretory protein trafficking and organelle dynamics in living cells.", "journal": "Annual review of cell and developmental biology", "date": "2000", "authors": "Lippincott-Schwartz J, Roberts TH, Hirschberg K", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "11031247", "url": "https://glygen.org/publication/PubMed/11031247" } ] }, { "title": "Membrane transport: retromer to the rescue.", "journal": "Current biology : CB", "date": "2001", "authors": "Pfeffer SR", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "11231171", "url": "https://glygen.org/publication/PubMed/11231171" } ] }, { "title": "Molecular analysis of the epidermal growth factor-like short consensus repeat domain-mediated protein-protein interactions: dissection of the CD97-CD55 complex.", "journal": "The Journal of biological chemistry", "date": "2001", "authors": "Lin HH, Stacey M, Saxby C, Knott V, Chaudhry Y, Evans D, Gordon S, McKnight AJ, Handford P, Lea S", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "11297558", "url": "https://glygen.org/publication/PubMed/11297558" } ] }, { "title": "Low-density lipoprotein receptor-related protein-5 binds to Axin and regulates the canonical Wnt signaling pathway.", "journal": "Molecular cell", "date": "2001", "authors": "Mao J, Wang J, Liu B, Pan W, Farr GH 3rd, Flynn C, Yuan H, Takada S, Kimelman D, Li L, Wu D", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "11336703", "url": "https://glygen.org/publication/PubMed/11336703" } ] }, { "title": "LDL-receptor-related protein 6 is a receptor for Dickkopf proteins.", "journal": "Nature", "date": "2001", "authors": "Mao B, Wu W, Li Y, Hoppe D, Stannek P, Glinka A, Niehrs C", "evidence": [ { "database": "Reactome", "id": "R-HSA-201681", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681" } ], "reference": [ { "type": "PubMed", "id": "11357136", "url": "https://glygen.org/publication/PubMed/11357136" } ] }, { "title": "Molecular cloning and characterization of human WNT8A.", "journal": "Int. J. Oncol.", "date": "2001", "authors": "Saitoh T, Katoh M", "evidence": [ { "database": "UniProtKB", "id": "Q9H1J5", "url": "https://www.uniprot.org/uniprot/Q9H1J5" } ], "reference": [ { "type": "PubMed", "id": "11408932", "url": "https://glygen.org/publication/PubMed/11408932" } ] }, { "title": "SNX3 regulates endosomal function through its PX-domain-mediated interaction with PtdIns(3)P.", "journal": "Nature cell biology", "date": "2001", "authors": "Xu Y, Hortsman H, Seet L, Wong SH, Hong W", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "11433298", "url": "https://glygen.org/publication/PubMed/11433298" } ] }, { "title": "Head inducer Dickkopf-1 is a ligand for Wnt coreceptor LRP6.", "journal": "Current biology : CB", "date": "2001", "authors": "Semenov MV, Tamai K, Brott BK, Kuhl M, Sokol S, He X", "evidence": [ { "database": "Reactome", "id": "R-HSA-201681", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681" } ], "reference": [ { "type": "PubMed", "id": "11448771", "url": "https://glygen.org/publication/PubMed/11448771" } ] }, { "title": "Armadillo nuclear import is regulated by cytoplasmic anchor Axin and nuclear anchor dTCF/Pan.", "journal": "Development (Cambridge, England)", "date": "2001", "authors": "Tolwinski NS, Wieschaus E", "evidence": [ { "database": "Reactome", "id": "R-HSA-201681", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681" } ], "reference": [ { "type": "PubMed", "id": "11493532", "url": "https://glygen.org/publication/PubMed/11493532" } ] }, { "title": "Identification of the Axin and Frat binding region of glycogen synthase kinase-3.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Fraser E, Young N, Dajani R, Franca-Koh J, Ryves J, Williams RS, Yeo M, Webster MT, Richardson C, Smalley MJ, Pearl LH, Harwood A, Dale TC", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "11707456", "url": "https://glygen.org/publication/PubMed/11707456" } ] }, { "title": "The structure of phosphorylated GSK-3beta complexed with a peptide, FRATtide, that inhibits beta-catenin phosphorylation.", "journal": "Structure (London, England : 1993)", "date": "2001", "authors": "Bax B, Carter PS, Lewis C, Guy AR, Bridges A, Tanner R, Pettman G, Mannix C, Culbert AA, Brown MJ, Smith DG, Reith AD", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "11738041", "url": "https://glygen.org/publication/PubMed/11738041" } ] }, { "title": "Glycogen synthase kinase-3 beta mutagenesis identifies a common binding domain for GBP and Axin.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Ferkey DM, Kimelman D", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "11861647", "url": "https://glygen.org/publication/PubMed/11861647" } ] }, { "title": "Expression and regulation of WNT8A and WNT8B mRNAs in human tumor cell lines: up-regulation of WNT8B mRNA by beta-estradiol in MCF-7 cells, and down-regulation of WNT8A and WNT8B mRNAs by retinoic acid in NT2 cells.", "journal": "International journal of oncology", "date": "2002", "authors": "Saitoh T, Mine T, Katoh M", "evidence": [ { "database": "RefSeq", "id": "NP_001287867", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287867" }, { "database": "RefSeq", "id": "NP_001287868", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001287868" } ], "reference": [ { "type": "PubMed", "id": "11956596", "url": "https://glygen.org/publication/PubMed/11956596" } ] }, { "title": "Characterization of the human and mouse genes encoding the tuberoinfundibular peptide of 39 residues, a ligand of the parathyroid hormone receptor family.", "journal": "The Journal of endocrinology", "date": "2002", "authors": "Hansen IA, Jakob O, Wortmann S, Arzberger T, Allolio B, Blind E", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "12098667", "url": "https://glygen.org/publication/PubMed/12098667" } ] }, { "title": "Ligand receptor interactions in the Wnt signaling pathway in Drosophila.", "journal": "The Journal of biological chemistry", "date": "2002", "authors": "Wu CH, Nusse R", "evidence": [ { "database": "Reactome", "id": "R-HSA-201681", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681" } ], "reference": [ { "type": "PubMed", "id": "12205098", "url": "https://glygen.org/publication/PubMed/12205098" } ] }, { "title": "The ins and outs of APC and beta-catenin nuclear transport.", "journal": "EMBO reports", "date": "2002", "authors": "Henderson BR, Fagotto F", "evidence": [ { "database": "Reactome", "id": "R-HSA-201681", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681" } ], "reference": [ { "type": "PubMed", "id": "12223464", "url": "https://glygen.org/publication/PubMed/12223464" } ] }, { "title": "Structural basis for recruitment of glycogen synthase kinase 3beta to the axin-APC scaffold complex.", "journal": "The EMBO journal", "date": "2003", "authors": "Dajani R, Fraser E, Roe SM, Yeo M, Good VM, Thompson V, Dale TC, Pearl LH", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "12554650", "url": "https://glygen.org/publication/PubMed/12554650" } ] }, { "title": "Tuberoinfundibular peptide of 39 residues (TIP39): molecular structure and activity for parathyroid hormone 2 receptor.", "journal": "Neuropharmacology", "date": "2003", "authors": "Della Penna K, Kinose F, Sun H, Koblan KS, Wang H", "evidence": [ { "database": "Reactome", "id": "R-HSA-373080", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-373080" } ], "reference": [ { "type": "PubMed", "id": "12559132", "url": "https://glygen.org/publication/PubMed/12559132" } ] }, { "title": "Wnt proteins are lipid-modified and can act as stem cell growth factors.", "journal": "Nature", "date": "2003", "authors": "Willert K, Brown JD, Danenberg E, Duncan AW, Weissman IL, Reya T, Yates JR 3rd, Nusse R", "evidence": [ { "database": "Reactome", "id": "R-HSA-3238698", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-3238698" } ], "reference": [ { "type": "PubMed", "id": "12717451", "url": "https://glygen.org/publication/PubMed/12717451" } ] }, { "title": "Direct binding of the PDZ domain of Dishevelled to a conserved internal sequence in the C-terminal region of Frizzled.", "journal": "Molecular cell", "date": "2003", "authors": "Wong HC, Bourdelas A, Krauss A, Lee HJ, Shao Y, Wu D, Mlodzik M, Shi DL, Zheng J", "evidence": [ { "database": "Reactome", "id": "R-HSA-201681", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-201681" } ], "reference": [ { "type": "PubMed", "id": "14636582", "url": "https://glygen.org/publication/PubMed/14636582" } ] }, { "title": "A mechanism for Wnt coreceptor activation.", "journal": "Molecular cell", "date": "2004", "authors": "Tamai K, Zeng X, Liu C, Zhang X, Harada Y, Chang Z, He X", "evidence": [ { "database": "Reactome", "id": "R-HSA-4641262", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-4641262" } ], "reference": [ { "type": "PubMed", "id": "14731402", "url": "https://glygen.org/publication/PubMed/14731402" } ] }, { "title": "Nuclear-cytoplasmic shuttling of Axin regulates subcellular localization of beta-catenin.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2004", "authors": "Cong F, Varmus H", "evidence": [ { "database": 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