{ "uniprot_canonical_ac": "O95389-1", "uniprot_ac": "O95389", "uniprot_id": "CCN6_HUMAN", "mass": { "chemical_mass": 39293.0, "monoisotopic_mass": 39293.0 }, "refseq": { "ac": "NP_003871", "name": "cellular communication network factor 6 isoform 1 precursor", "summary": "This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003871" }, "gene_names": [ { "name": "CCN6", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95389", "id": "O95389" }, { "name": "CCN6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003871", "id": "NP_003871" }, { "name": "LIBC; PPAC; PPD; PPRD; WISP-3; WISP3", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003871", "id": "NP_003871" }, { "name": "PRO956", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95389", "id": "O95389" }, { "name": "WISP3", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95389", "id": "O95389" }, { "name": "hCG_34804", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95389", "id": "O95389" } ], "protein_names": [ { "name": "Cellular communication network factor 6", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95389" }, { "name": "CCN family member 6", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95389" }, { "name": "WISP-3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95389" }, { "name": "WNT1-inducible-signaling pathway protein 3", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95389" }, { "name": "cellular communication network factor 6 isoform 1 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003871", "id": "NP_003871" }, { "name": "epididymis secretory sperm binding protein; WNT1 inducible signaling pathway protein 3; CCN family member 6", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003871", "id": "NP_003871" } ], "function": [ { "annotation": "CCN6 influences transcription and controls mitochondrial mass and muscle organization.", "evidence": [ { "database": "RefSeq", "id": "NP_003871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003871" }, { "database": "PubMed", "id": "36794678", "url": "https://glygen.org/publication/PubMed/36794678" } ] }, { "annotation": "Directed differentiation of human pluripotent stem cells into articular cartilage reveals effects caused by absence of WISP3, the gene responsible for progressive pseudorheumatoid arthropathy of childhood.", "evidence": [ { "database": "RefSeq", "id": "NP_003871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003871" }, { "database": "PubMed", "id": "37679035", "url": "https://glygen.org/publication/PubMed/37679035" } ] }, { "annotation": "Dual roles of cellular communication network factor 6 (CCN6) in the invasion and metastasis of oral cancer cells to bone via binding to BMP2 and RANKL.", "evidence": [ { "database": "RefSeq", "id": "NP_003871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003871" }, { "database": "PubMed", "id": "37590989", "url": "https://glygen.org/publication/PubMed/37590989" } ] }, { "annotation": "Effects of CCN6 overexpression on the cell motility and activation of p38/bone morphogenetic protein signaling pathways in pancreatic cancer cells.", "evidence": [ { "database": "RefSeq", "id": "NP_003871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003871" }, { "database": "PubMed", "id": "37105075", "url": "https://glygen.org/publication/PubMed/37105075" } ] }, { "annotation": "OTUB1 inhibits breast cancer by non-canonically stabilizing CCN6.", "evidence": [ { "database": "RefSeq", "id": "NP_003871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003871" }, { "database": "PubMed", "id": "37608493", "url": "https://glygen.org/publication/PubMed/37608493" } ] }, { "annotation": "Plays a role in mitochondrial electron transport and mitochondrial respiration (PubMed:27252383). Through its regulation of the mitochondrial function may play a role in normal postnatal skeletal growth and cartilage homeostasis (PubMed:27252383, PubMed:10471507).", "evidence": [ { "database": "UniProtKB", "id": "O95389", "url": "https://www.uniprot.org/uniprot/O95389#function" }, { "database": "PubMed", "id": "10471507", "url": "https://glygen.org/publication/PubMed/10471507" }, { "database": "PubMed", "id": "27252383", "url": "https://glygen.org/publication/PubMed/27252383" } ] }, { "annotation": "This gene encodes a member of the WNT1 inducible signaling pathway (WISP) protein subfamily, which belongs to the connective tissue growth factor (CTGF) family. WNT1 is a member of a family of cysteine-rich, glycosylated signaling proteins that mediate diverse developmental processes. The CTGF family members are characterized by four conserved cysteine-rich domains: insulin-like growth factor-binding domain, von Willebrand factor type C module, thrombospondin domain and C-terminal cystine knot-like domain. This gene is overexpressed in colon tumors. It may be downstream in the WNT1 signaling pathway that is relevant to malignant transformation. Mutations of this gene are associated with progressive pseudorheumatoid dysplasia, an autosomal recessive skeletal disorder, indicating that the gene is essential for normal postnatal skeletal growth and cartilage homeostasis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].", "evidence": [ { "database": "RefSeq", "id": "NP_003871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003871" } ] } ], "disease": [ { "disease_id": "DOID:0090004", "recommended_name": { "id": "DOID:0090004", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090004", "name": "progressive pseudorheumatoid arthropathy of childhood", "description": "A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22." }, "synonyms": [ { "id": "DOID:0090004", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0090004", "name": "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome", "description": "" }, { "id": "MONDO:0008827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008827", "name": "progressive pseudorheumatoid arthropathy of childhood", "description": "Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED." }, { "id": "MONDO:0008827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008827", "name": "progressive pseudorheumatoid arthropathy of childhood", "description": "" }, { "id": "MONDO:0008827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008827", "name": "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome", "description": "" }, { "id": "MONDO:0008827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008827", "name": "PPAC", "description": "" }, { "id": "MONDO:0008827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008827", "name": "PPD", "description": "" }, { "id": "MONDO:0008827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008827", "name": "SEDT-PA", "description": "" }, { "id": "MONDO:0008827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008827", "name": "arthropathy, progressive pseudorheumatoid, of childhood", "description": "" }, { "id": "MONDO:0008827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008827", "name": "progressive pseudorheumatoid chondrodysplasia", "description": "" }, { "id": "MONDO:0008827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008827", "name": "progressive pseudorheumatoid dysplasia", "description": "" }, { "id": "MONDO:0008827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008827", "name": "spondyloepiphyseal dysplasia tarda - progressive arthropathy", "description": "" }, { "id": "MONDO:0008827", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008827", "name": "spondyloepiphyseal dysplasia tarda with progressive arthropathy", "description": "" }, { "id": "MIM:208230", "resource": "MIM", "url": "https://www.omim.org/entry/208230", "name": "Progressive pseudorheumatoid dysplasia", "description": "Progressive pseudorheumatoid dysplasia" } ], "evidence": [ { "id": "208230", "database": "MIM", "url": "https://www.omim.org/entry/208230" } ] } ], "snv": [ { "evidence": [ { "id": "rs782373024", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782373024" }, { "id": "rs782373024", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs782373024" }, { "id": "rs782373024", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs782373024" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 101, "end_pos": 101, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DYS->NYS).", "chr_id": "6", "chr_pos": "112061243", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D101", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95389", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95389" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 172, "end_pos": 172, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "K", "sequence_mut": "N", "comment": "Somatic mutation passed 1 out of 6 filters: n-glyco-sequon-gain (KKS->NKS).", "chr_id": "6", "chr_pos": "112064924", "ref_nt": "G", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "K172", "disease": [ { "disease_id": "DOID:9256", "recommended_name": { "id": "DOID:9256", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9256", "name": "colorectal cancer", "description": "A large intestine cancer that is located_in the colon and/or located_in the rectum." }, "synonyms": [ { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma." }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "cancer of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, advanced, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colon cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer with chromosomal instability, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, somatic", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "colorectum cancer", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectal tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant colorectum neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant 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"https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of colorectum", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant neoplasm of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumor of the large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large bowel", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant tumour of large intestine", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": 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"name": "Colorectal cancer", "description": "Colorectal cancer" } ] } ], "keywords": [ "biomuta", "somatic", "cancer", "disease" ] }, { "evidence": [ { "id": "rs1338596633", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1338596633" }, { "id": "rs1338596633", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1338596633#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 175, "end_pos": 175, "sequence_org": "D", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DQS->NQS).", "chr_id": "6", "chr_pos": "112064931", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "D175", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs35374349", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs35374349" }, { "id": "rs35374349", "database": "1000Genomes", "url": 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"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", 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"ENSP00000357653.3", "url": "https://www.ensembl.org/id/ENSP00000357653.3" } ] } }, { "isoform_ac": "G3V0J1-1", "url": "", "sequence": { "sequence": "MQGLLFSTLLLAGLAQFCCRVQGTGPLDTTPEGRPGEVSDAPQRKQFCHWPCKCPQQKPRCPPGVSLVRDGCGCCKICAKQPGEICNEADLCDPHKGLYCDYSVDRPRYETGVCAYLVAVGCEFNQVHYHNGQVFQPNPLFSCLCVSGAIGCTPLFIPKLAGSHCSGAKGGKKSDQSNCSLEPLLQQLSTSYKTMPDVCQASNLLPALRSLNCCLPSSL", "length": 219, "header": "tr|G3V0J1-1|CCN6_HUMAN Computationally mapped isoform of Cellular communication network factor 6 OS=Homo sapiens OX=9606 GN=CCN6 PE=1 SV=1 CANONICAL=O95389-1" }, "locus": { "chromosome": "6", "start_pos": 112068208, "end_pos": 112054358, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000454589.5", "url": "https://www.ensembl.org/id/ENST00000454589.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000395928.1", "url": "https://www.ensembl.org/id/ENSP00000395928.1" } ] } }, { "isoform_ac": "O95389-1", "url": "", "sequence": { "sequence": "MQGLLFSTLLLAGLAQFCCRVQGTGPLDTTPEGRPGEVSDAPQRKQFCHWPCKCPQQKPRCPPGVSLVRDGCGCCKICAKQPGEICNEADLCDPHKGLYCDYSVDRPRYETGVCAYLVAVGCEFNQVHYHNGQVFQPNPLFSCLCVSGAIGCTPLFIPKLAGSHCSGAKGGKKSDQSNCSLEPLLQQLSTSYKTMPAYRNLPLIWKKKCLVQATKWTPCSRTCGMGISNRVTNENSNCEMRKEKRLCYIQPCDSNILKTIKIPKGKTCQPTFQLSKAEKFVFSGCSSTQSYKPTFCGICLDKRCCIPNKSKMITIQFDCPNEGSFKWKMLWITSCVCQRNCREPGDIFSELKIL", "length": 354, "header": "sp|O95389-1|CCN6_HUMAN Isoform 1 of Cellular communication network factor 6 OS=Homo sapiens OX=9606 GN=CCN6 PE=1 SV=1 CANONICAL=O95389-1" }, "locus": { "chromosome": "6", "start_pos": 112069617, "end_pos": 112054358, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000230529.9", "url": "https://www.ensembl.org/id/ENST00000230529.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000230529.5", "url": "https://www.ensembl.org/id/ENSP00000230529.5" } ] } }, { "isoform_ac": "O95389-2", "url": "", "sequence": { "sequence": "MNKRRLLYPSGWLHGPSDMQGLLFSTLLLAGLAQFCCRVQGTGPLDTTPEGRPGEVSDAPQRKQFCHWPCKCPQQKPRCPPGVSLVRDGCGCCKICAKQPGEICNEADLCDPHKGLYCDYSVDRPRYETGVCAYLVAVGCEFNQVHYHNGQVFQPNPLFSCLCVSGAIGCTPLFIPKLAGSHCSGAKGGKKSDQSNCSLEPLLQQLSTSYKTMPAYRNLPLIWKKKCLVQATKWTPCSRTCGMGISNRVTNENSNCEMRKEKRLCYIQPCDSNILKTIKIPKGKTCQPTFQLSKAEKFVFSGCSSTQSYKPTFCGICLDKRCCIPNKSKMITIQFDCPNEGSFKWKMLWITSCVCQRNCREPGDIFSELKIL", "length": 372, "header": "sp|O95389-2|CCN6_HUMAN Isoform 2 of Cellular communication network factor 6 OS=Homo sapiens OX=9606 GN=CCN6 PE=1 SV=1 CANONICAL=O95389-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 178, "start_aa": "Asn", "end_pos": 178, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn178", "evidence": [ { "id": "O95389", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95389#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 308, "start_aa": "Asn", "end_pos": 308, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn308", "evidence": [ { "id": "O95389", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95389#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted" ], "publication": [ { "title": "Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.", "journal": "Nature genetics", "date": "1999", "authors": "Hurvitz JR, Suwairi WM, Van Hul W, El-Shanti H, Superti-Furga A, Roudier J, Holderbaum D, Pauli RM, Herd JK, Van Hul EV, Rezai-Delui H, Legius E, Le Merrer M, Al-Alami J, Bahabri SA, Warman ML", "evidence": [ { "database": "UniProtKB", "id": "O95389", "url": "https://www.uniprot.org/uniprot/O95389" } ], "reference": [ { "type": "PubMed", "id": "10471507", "url": "https://glygen.org/publication/PubMed/10471507" } ] }, { "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": "O95389", "url": "https://www.uniprot.org/uniprot/O95389" } ], "reference": [ { "type": "PubMed", "id": "12975309", "url": "https://glygen.org/publication/PubMed/12975309" } ] }, { "title": "Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect.", "journal": "American journal of medical genetics. Part A", "date": "2005", "authors": "Delague V, Chouery E, Corbani S, Ghanem I, Aamar S, Fischer J, Levy-Lahad E, Urtizberea JA, Megarbane A", "evidence": [ { "database": "UniProtKB", "id": "O95389", "url": "https://www.uniprot.org/uniprot/O95389" } ], "reference": [ { "type": "PubMed", "id": "16152649", "url": "https://glygen.org/publication/PubMed/16152649" } ] }, { "title": "Identification of novel mutations in WISP3 gene in two unrelated Chinese families with progressive pseudorheumatoid dysplasia.", "journal": "Bone", "date": "2009", "authors": "Yue H, Zhang ZL, He JW", "evidence": [ { "database": "UniProtKB", "id": "O95389", "url": "https://www.uniprot.org/uniprot/O95389" } ], "reference": [ { "type": "PubMed", "id": "19064006", "url": "https://glygen.org/publication/PubMed/19064006" } ] }, { "title": "Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid dysplasia.", "journal": "PloS one", "date": "2012", "authors": "Sun J, Xia W, He S, Zhao Z, Nie M, Li M, Jiang Y, Xing X, Wang O, Meng X, Zhou X", "evidence": [ { "database": "UniProtKB", "id": "O95389", "url": "https://www.uniprot.org/uniprot/O95389" } ], "reference": [ { "type": "PubMed", "id": "22685593", "url": "https://glygen.org/publication/PubMed/22685593" } ] }, { "title": "Analysis of the WISP3 gene in Indian families with progressive pseudorheumatoid dysplasia.", "journal": "American journal of medical genetics. Part A", "date": "2012", "authors": "Dalal A, Bhavani G SL, Togarrati PP, Bierhals T, Nandineni MR, Danda S, Danda D, Shah H, Vijayan S, Gowrishankar K, Phadke SR, Bidchol AM, Rao AP, Nampoothiri S, Kutsche K, Girisha KM", "evidence": [ { "database": "UniProtKB", "id": "O95389", "url": "https://www.uniprot.org/uniprot/O95389" } ], "reference": [ { "type": "PubMed", "id": "22987568", "url": "https://glygen.org/publication/PubMed/22987568" } ] }, { "title": "Identification of a mutation in the WISP3 gene in three unrelated families with progressive pseudorheumatoid dysplasia.", "journal": "Molecular medicine reports", "date": "2015", "authors": "Yu Y, Hu M, Xing X, Li F, Song Y, Luo Y, Ma H", "evidence": [ { "database": "UniProtKB", "id": "O95389", "url": "https://www.uniprot.org/uniprot/O95389" } ], "reference": [ { "type": "PubMed", "id": "25738435", "url": "https://glygen.org/publication/PubMed/25738435" } ] }, { "title": "A novel compound WISP3 mutation in a Chinese family with progressive pseudorheumatoid dysplasia.", "journal": "Gene", "date": "2015", "authors": "Luo H, Shi C, Mao C, Jiang C, Bao D, Guo J, Du P, Wang Y, Liu Y, Liu X, Song B, Xu Y", "evidence": [ { "database": "UniProtKB", "id": "O95389", "url": "https://www.uniprot.org/uniprot/O95389" } ], "reference": [ { "type": "PubMed", "id": "25794430", "url": "https://glygen.org/publication/PubMed/25794430" } ] }, { "title": "Novel and recurrent mutations in WISP3 and an atypical phenotype.", "journal": "American journal of medical genetics. Part A", "date": "2015", "authors": "Bhavani GS, Shah H, Dalal AB, Shukla A, Danda S, Aggarwal S, Phadke SR, Gupta N, Kabra M, Gowrishankar K, Gupta A, Bhat M, Puri RD, Bijarnia-Mahay S, Nampoothiri S, Mohanasundaram KM, Rajeswari S, Kulkarni AM, Kulkarni ML, Ranganath P, Ramadevi AR, Hariharan SV, Girisha KM", "evidence": [ { "database": "UniProtKB", "id": "O95389", "url": "https://www.uniprot.org/uniprot/O95389" } ], "reference": [ { "type": "PubMed", "id": "25988854", "url": "https://glygen.org/publication/PubMed/25988854" } ] }, { "title": "CCN6 regulates mitochondrial function.", "journal": "Journal of cell science", "date": "2016", "authors": "Patra M, Mahata SK, Padhan DK, Sen M", "evidence": [ { "database": "UniProtKB", "id": "O95389", "url": "https://www.uniprot.org/uniprot/O95389" } ], "reference": [ { "type": "PubMed", "id": "27252383", "url": "https://glygen.org/publication/PubMed/27252383" } ] }, { "title": "WISP3 mutational analysis in Indian patients diagnosed with progressive pseudorheumatoid dysplasia and report of a novel mutation at p.Y198.", "journal": "Bone & joint research", "date": "2016", "authors": "Madhuri V, Santhanam M, Rajagopal K, Sugumar LK, Balaji V", "evidence": [ { "database": "UniProtKB", "id": "O95389", "url": "https://www.uniprot.org/uniprot/O95389" } ], "reference": [ { "type": "PubMed", "id": "27436824", "url": "https://glygen.org/publication/PubMed/27436824" } ] }, { "title": "WISP3 mutation associated with pseudorheumatoid dysplasia.", "journal": "Cold Spring Harbor molecular case studies", "date": "2018", "authors": "Sailani MR, Chappell J, Jingga I, Narasimha A, Zia A, Lynch JL, Mazrouei S, Bernstein JA, Aryani O, Snyder MP", "evidence": [ { "database": "UniProtKB", "id": "O95389", "url": "https://www.uniprot.org/uniprot/O95389" } ], "reference": [ { "type": "PubMed", "id": "29092958", "url": "https://glygen.org/publication/PubMed/29092958" } ] }, { "title": "CCN6 influences transcription and controls mitochondrial mass and muscle organization.", "journal": "FASEB journal : official publication of the Federation of American Societies for Experimental Biology", "date": "2023-03", "authors": "Ganguly Ananya, Padhan Deepesh Kumar, Sengupta Archya, Chakraborty Pritam, Sen Malini", "evidence": [ { "database": "RefSeq", "id": "NP_003871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003871" } ], "reference": [ { "type": "PubMed", "id": "36794678", "url": "https://glygen.org/publication/PubMed/36794678" } ] }, { "title": "Effects of CCN6 overexpression on the cell motility and activation of p38/bone morphogenetic protein signaling pathways in pancreatic cancer cells.", "journal": "Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie", "date": "2023-04-25", "authors": "Nam Min-Woo, Lee Hong Kyu, Kim Cho-Won, Choi Youngdong, Ahn Dohee, Go Ryeo-Eun, Choi Kyung-Chul", "evidence": [ { "database": "RefSeq", "id": "NP_003871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003871" } ], "reference": [ { "type": "PubMed", "id": "37105075", "url": "https://glygen.org/publication/PubMed/37105075" } ] }, { "title": "Dual roles of cellular communication network factor 6 (CCN6) in the invasion and metastasis of oral cancer cells to bone via binding to BMP2 and RANKL.", "journal": "Carcinogenesis", "date": "2023-08-17", "authors": "Hochi Hiroaki, Kubota Satoshi, Takigawa Masaharu, Nishida Takashi", "evidence": [ { "database": "RefSeq", "id": "NP_003871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003871" } ], "reference": [ { "type": "PubMed", "id": "37590989", "url": "https://glygen.org/publication/PubMed/37590989" } ] }, { "title": "OTUB1 inhibits breast cancer by non-canonically stabilizing CCN6.", "journal": "Clinical and translational medicine", "date": "2023-08", "authors": "Zhao Ying, Ruan Jing, Li Zhongding, Su Xian, Chen Kangmin, Lin Yimin, Cai Yuepiao, Wang Peng, Liu Baohua, Schl\u00fcter Dirk, Liang Guang, Wang Xu", "evidence": [ { "database": "RefSeq", "id": "NP_003871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003871" } ], "reference": [ { "type": "PubMed", "id": "37608493", "url": "https://glygen.org/publication/PubMed/37608493" } ] }, { "title": "Directed differentiation of human pluripotent stem cells into articular cartilage reveals effects caused by absence of WISP3, the gene responsible for progressive pseudorheumatoid arthropathy of childhood.", "journal": "Annals of the rheumatic diseases", "date": "2023-12", "authors": "Li Chaochang, Alemany-Ribes Mireia, Raftery Rosanne M, Nwoko Uzochi, Warman Matthew L, Craft April M", "evidence": [ { "database": "RefSeq", "id": "NP_003871", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_003871" } ], "reference": [ { "type": "PubMed", "id": "37679035", "url": "https://glygen.org/publication/PubMed/37679035" } ] }, { "title": "WISP genes are members of the connective tissue growth factor family that are up-regulated in wnt-1-transformed cells and aberrantly expressed in human colon tumors.", "journal": "Proc. Natl. Acad. Sci. U.S.A.", "date": "1998", "authors": "Pennica D, Swanson TA, Welsh JW, Roy MA, Lawrence DA, Lee J, Brush J, Taneyhill LA, Deuel B, Lew M, Watanabe C, Cohen RL, Melhem MF, Finley GG, Quirke P, Goddard AD, Hillan KJ, Gurney AL, Botstein D, Levine AJ", "evidence": [ { "database": "UniProtKB", "id": "O95389", "url": "https://www.uniprot.org/uniprot/O95389" } ], "reference": [ { "type": "PubMed", "id": "9843955", "url": "https://glygen.org/publication/PubMed/9843955" } ] } ], "pathway": [ { "id": "hsa:8838", "name": "", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:8838", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "D3Z5L9-1", "protein_name": "Cellular communication network factor 6", "gene_name": "Ccn6", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": 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