{ "uniprot_canonical_ac": "O95967-1", "uniprot_ac": "O95967", "uniprot_id": "FBLN4_HUMAN", "mass": { "chemical_mass": 49405.0, "monoisotopic_mass": 49405.0 }, "refseq": { "ac": "NP_058634", "name": "EGF-containing fibulin-like extracellular matrix protein 2 precursor", "summary": "A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058634" }, "gene_names": [ { "name": "EFEMP2", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/O95967", "id": "O95967" }, { "name": "ARCL1B; FBLN4; MBP1; UPH1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058634", "id": "NP_058634" }, { "name": "EFEMP2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058634", "id": "NP_058634" }, { "name": "FBLN4", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95967", "id": "O95967" }, { "name": "PRO226", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/O95967", "id": "O95967" } ], "protein_names": [ { "name": "EGF-containing fibulin-like extracellular matrix protein 2", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "O95967" }, { "name": "EGF-containing fibulin-like extracellular matrix protein 2 precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058634", "id": "NP_058634" }, { "name": "FIBL-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95967" }, { "name": "Fibulin-4", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95967" }, { "name": "Protein UPH1", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "O95967" }, { "name": "fibulin 4; mutant p53 binding protein 1; FIBL-4; EGF containing fibulin like extracellular matrix protein 2", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058634", "id": "NP_058634" } ], "function": [ { "annotation": "A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011].", "evidence": [ { "database": "RefSeq", "id": "NP_058634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058634" } ] }, { "annotation": "EFEMP2 increases the invasion ability of cervical cancer cells by promoting EMT via the Raf/MEK/ERK signaling pathway.", "evidence": [ { "database": "RefSeq", "id": "NP_058634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058634" }, { "database": "PubMed", "id": "36004647", "url": "https://glygen.org/publication/PubMed/36004647" } ] }, { "annotation": "EFEMP2 upregulates PD-L1 expression via EGFR/ERK1/2/c-Jun signaling to promote the invasion of ovarian cancer cells. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_058634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058634" }, { "database": "PubMed", "id": "37420173", "url": "https://glygen.org/publication/PubMed/37420173" } ] }, { "annotation": "Plays a crucial role in elastic fiber formation in tissue, and in the formation of ultrastructural connections between elastic laminae and smooth muscle cells in the aorta, therefore participates in terminal differentiation and maturation of smooth muscle cell (SMC) and in the mechanical properties and wall integrity maintenance of the aorta (PubMed:27339457). In addition, is involved in the control of collagen fibril assembly in tissue throught proteolytic activation of LOX leading to cross- linking of collagen and elastin (By similarity). Also promotes ELN coacervation and participates in the deposition of ELN coacervates on to microfibrils but also regulates ELN cross- linking through LOX interaction (PubMed:18973305, PubMed:19570982). Moreover adheres to the cells through heparin binding in a calcium-dependent manner and regulates vascularlar smooth muscle cells proliferation through angiotensin signaling (PubMed:23782690).", "evidence": [ { "database": "UniProtKB", "id": "O95967", "url": "https://www.uniprot.org/uniprot/O95967#function" }, { "database": "PubMed", "id": "27339457", "url": "https://glygen.org/publication/PubMed/27339457" }, { "database": "PubMed", "id": "23782690", "url": "https://glygen.org/publication/PubMed/23782690" }, { "database": "UniProtKB", "id": "Q9WVJ9", "url": "https://www.uniprot.org/uniprot/Q9WVJ9#function" }, { "database": "PubMed", "id": "19570982", "url": "https://glygen.org/publication/PubMed/19570982" }, { "database": "PubMed", "id": "18973305", "url": "https://glygen.org/publication/PubMed/18973305" } ] }, { "annotation": "Protective Role of Endothelial Fibulin-4 in Valvulo-Arterial Integrity.", "evidence": [ { "database": "RefSeq", "id": "NP_058634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058634" }, { "database": "PubMed", "id": "36565192", "url": "https://glygen.org/publication/PubMed/36565192" } ] }, { "annotation": "STEAP2 promotes osteosarcoma progression by inducing epithelial-mesenchymal transition via the PI3K/AKT/mTOR signaling pathway and is regulated by EFEMP2.", "evidence": [ { "database": "RefSeq", "id": "NP_058634", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_058634" }, { "database": "PubMed", "id": "36316642", "url": "https://glygen.org/publication/PubMed/36316642" } ] } ], "disease": [ { "disease_id": "DOID:0070133", "recommended_name": { "id": "DOID:0070133", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070133", "name": "autosomal recessive cutis laxa type IB", "description": "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13." }, "synonyms": [ { "id": "DOID:0070133", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070133", "name": "ARCL1B", "description": "" }, { "id": "MONDO:0013754", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013754", "name": "cutis laxa, autosomal recessive, type 1B", "description": "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13." }, { "id": "MONDO:0013754", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013754", "name": "ARCL1B", "description": "" }, { "id": "MONDO:0013754", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013754", "name": "autosomal recessive cutis laxa type IB", "description": "" }, { "id": "MONDO:0013754", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013754", "name": "cutis laxa, autosomal recessive, type IB", "description": "" }, { "id": "MIM:614437", "resource": "MIM", "url": "https://www.omim.org/entry/614437", "name": "Cutis laxa, autosomal recessive, 1B", "description": "Cutis laxa, autosomal recessive, 1B" } ], "evidence": [ { "id": "614437", "database": "MIM", "url": "https://www.omim.org/entry/614437" } ] } ], "snv": [ { "evidence": [ { "id": "rs745886387", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745886387" }, { "id": "rs745886387", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs745886387" }, { "id": "rs745886387", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs745886387" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 144, "end_pos": 144, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "11", "chr_pos": "65870596", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P144", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95967", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95967" } ], "glycoeffect": [], "start_pos": 156, "end_pos": 156, "subjects_tested": "80", "subjects_positive": "1", "frequency": "1.3", "sequence_org": "R", "sequence_mut": "C", "comment": "Somatic mutation passed 1 out of 6 filters: patient freq. (1.3%). In dbSNP: rs573771187.", "chr_id": "11", "chr_pos": "65870560", "ref_nt": "G", "alt_nt": "A", "minor_allelic_frequency": "", "site_lbl": "R156", "keywords": [ "biomuta", "somatic", "cancer" ] }, { "evidence": [ { "id": "rs1351534292", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1351534292" }, { "id": "rs1351534292", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs1351534292" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 181, "end_pos": 181, "sequence_org": "P", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NLP->NLS).", "chr_id": "11", "chr_pos": "65870187", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "P181", "disease": [ { "disease_id": "DOID:0070133", "recommended_name": { "id": "DOID:0070133", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070133", "name": "autosomal recessive cutis laxa type IB", "description": "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13." }, "synonyms": [ { "id": "DOID:0070133", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070133", "name": "ARCL1B", "description": "" }, { "id": "MONDO:0013754", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013754", "name": "cutis laxa, autosomal recessive, type 1B", "description": "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has material basis in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13." }, { "id": "MONDO:0013754", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013754", "name": "ARCL1B", "description": "" }, { "id": "MONDO:0013754", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013754", "name": "autosomal recessive cutis laxa type IB", "description": "" }, { "id": "MONDO:0013754", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013754", "name": "cutis laxa, autosomal recessive, type IB", "description": "" }, { "id": "MIM:614437", "resource": "MIM", "url": "https://www.omim.org/entry/614437", "name": "Cutis laxa, autosomal recessive, 1B", "description": "Cutis laxa, autosomal recessive, 1B" } ] } ], "keywords": [ "ebi", "germline", "disease" ] }, { "evidence": [ { "id": "rs761933157", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761933157" }, { "id": "rs761933157", "database": "ExAC", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs761933157" }, { "id": "rs761933157", "database": "gnomAD", "url": "http://gnomad.broadinstitute.org/awesome?query=rs761933157" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 200, "end_pos": 200, "sequence_org": "S", "sequence_mut": "F", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NRS->NRF).", "chr_id": "11", "chr_pos": "65870129", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S200", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs373685161", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373685161" }, { "id": "rs373685161", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs373685161#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 327, "end_pos": 327, "sequence_org": "C", "sequence_mut": "S", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NRC->NRS).", "chr_id": "11", "chr_pos": "65868051", "ref_nt": "G", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "C327", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs1371470330", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1371470330" }, { "id": "rs1371470330", "database": "TOPMed", "url": "https://www.ncbi.nlm.nih.gov/snp/rs1371470330#frequency_tab" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 35, "end_pos": 35, "sequence_org": "S", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SYT->NYT).", "chr_id": "11", "chr_pos": "65872251", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S35", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "O95967", "database": "BioMuta", "url": "https://hive.biochemistry.gwu.edu/biomuta/proteinview/O95967" } ], "glycoeffect": [], "start_pos": 87, "end_pos": 87, "subjects_tested": "0", "subjects_positive": "0", "frequency": "0.0", "sequence_org": "V", "sequence_mut": "I", "comment": "Somatic mutation passed 1 out of 6 filters: num. of cancers (3).", "chr_id": "11", "chr_pos": "65871265", "ref_nt": "C", "alt_nt": "T", "minor_allelic_frequency": "", "site_lbl": "V87", "disease": [ { "disease_id": "DOID:363", "recommended_name": { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine cancer", "description": "A female reproductive organ cancer that is located_in the uterus." }, "synonyms": [ { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "CA - cancer of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "Tumour of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "malignant uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "neoplasm of uterus", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterine tumor", "description": "" }, { "id": "DOID:363", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:363", "name": "uterus neoplasm", "description": "" } ] }, { "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 large bowel neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large bowel tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine neoplasm", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumor", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005575", "name": "malignant large intestine tumour", "description": "" }, { "id": "MONDO:0005575", "resource": "MONDO", "url": "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": "" 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"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": 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"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": "" }, { 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"UniProtKB", "categories": [ "Protein" ] }, { "id": "O95967", "url": "https://www.uniprot.org/uniprot/O95967", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "O95967-1", "url": "https://www.uniprot.org/uniprot/O95967-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLTIPEACKGEMKCINHYGGYLCLPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDSCVDVDECAQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGPECVDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCHQGYELHRDGFSCSDIDECSYSSYLCQYRCINEPGRFSCHCPQGYQLLATRLCQDIDECESGAHQCSEAQTCVNFHGGYRCVDTNRCVEPYIQVSENRCLCPASNPLCREQPSSIVHRYMTITSERSVPADVFQIQATSVYPGAYNAFQIRAGNSQGDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTMNSLMSYRASSVLRLTVFVGAYTF", "length": 443, "header": "sp|O95967-1|FBLN4_HUMAN Isoform 1 of EGF-containing fibulin-like extracellular matrix protein 2 OS=Homo sapiens OX=9606 GN=EFEMP2 PE=1 SV=3 CANONICAL=O95967-1" }, "isoforms": [ { "isoform_ac": "E9PI47-1", "url": "", "sequence": { "sequence": "MTITSERSVPADVFQIQATSVYPGAYNAFQIRAGNSQGDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTMNSL", "length": 76, "header": "tr|E9PI47-1|E9PI47_HUMAN Computationally mapped isoform of EGF containing fibulin extracellular matrix protein 2 OS=Homo sapiens OX=9606 GN=EFEMP2 PE=1 SV=1 CANONICAL=O95967-1" }, "locus": { "chromosome": "11", "start_pos": 65867989, "end_pos": 65866981, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000530806.5", "url": "https://www.ensembl.org/id/ENST00000530806.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436526.1", "url": "https://www.ensembl.org/id/ENSP00000436526.1" } ] } }, { "isoform_ac": "E9PKA3-1", "url": "", "sequence": { "sequence": "MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLTIPEACKGEMKCINHYGGYLCLPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDSCVDVDECAQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGPECVDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCV", "length": 202, "header": "tr|E9PKA3-1|FBLN4_HUMAN Computationally mapped isoform of EGF-containing fibulin-like extracellular matrix protein 2 OS=Homo sapiens OX=9606 GN=EFEMP2 PE=1 SV=1 CANONICAL=O95967-1" }, "locus": { "chromosome": "11", "start_pos": 65872354, "end_pos": 65870122, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000526624.5", "url": "https://www.ensembl.org/id/ENST00000526624.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000435419.1", "url": "https://www.ensembl.org/id/ENSP00000435419.1" } ] } }, { "isoform_ac": "E9PNB8-1", "url": "", "sequence": { "sequence": "MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTVGTVRAAGLGQEGCQRVSDHP", "length": 58, "header": "tr|E9PNB8-1|FBLN4_HUMAN Computationally mapped isoform of EGF-containing fibulin-like extracellular matrix protein 2 OS=Homo sapiens OX=9606 GN=EFEMP2 PE=1 SV=1 CANONICAL=O95967-1" }, "locus": { "chromosome": "11", "start_pos": 65872354, "end_pos": 65871339, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000530850.1", "url": "https://www.ensembl.org/id/ENST00000530850.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000437238.1", "url": "https://www.ensembl.org/id/ENSP00000437238.1" } ] } }, { "isoform_ac": "E9PRQ8-1", "url": "", "sequence": { "sequence": "MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLTIPEACKGEMKCINHYGGYLCLPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDSCVDVDECAQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGPECVDIDECRYRYCQHRCVNLPGS", "length": 183, "header": "tr|E9PRQ8-1|FBLN4_HUMAN Computationally mapped isoform of EGF-containing fibulin-like extracellular matrix protein 2 OS=Homo sapiens OX=9606 GN=EFEMP2 PE=1 SV=1 CANONICAL=O95967-1" }, "locus": { "chromosome": "11", "start_pos": 65872354, "end_pos": 65870179, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527378.1", "url": "https://www.ensembl.org/id/ENST00000527378.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000435963.1", "url": "https://www.ensembl.org/id/ENSP00000435963.1" } ] } }, { "isoform_ac": "E9PRU1-1", "url": "", "sequence": { "sequence": "MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLTIPEACKGEMKCINHYGGYLCLPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDSCVDVDECAQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGPECVDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCHQGYELHRDGFSCSDIDECSYSSYLCQYRCINEPGRFSCHCPQGYQLLATRLCQDIDECESGAHQCSEAQTCVNFHGGYRCVDTNRCVEPYIQVSENRCLCPASNPLCREQPSSIVHRYMTITSERSVPADVFQIQATSVYPGAYNAFQIRAGNSQGDFYIRAQGPPLTGAGSSAPRASVTPRGEEVTRRADSRPRPRDLDLAGLQGS", "length": 436, "header": "tr|E9PRU1-1|FBLN4_HUMAN Computationally mapped isoform of EGF-containing fibulin-like extracellular matrix protein 2 OS=Homo sapiens OX=9606 GN=EFEMP2 PE=1 SV=1 CANONICAL=O95967-1" }, "locus": { "chromosome": "11", "start_pos": 65872354, "end_pos": 65866575, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000528176.5", "url": "https://www.ensembl.org/id/ENST00000528176.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000434151.1", "url": "https://www.ensembl.org/id/ENSP00000434151.1" } ] } }, { "isoform_ac": "E9PSC1-1", "url": "", "sequence": { "sequence": "MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRGPAQETGCAQQAPLCRCQRVSDHP", "length": 77, "header": "tr|E9PSC1-1|FBLN4_HUMAN Computationally mapped isoform of EGF-containing fibulin-like extracellular matrix protein 2 OS=Homo sapiens OX=9606 GN=EFEMP2 PE=1 SV=1 CANONICAL=O95967-1" }, "locus": { "chromosome": "11", "start_pos": 65872354, "end_pos": 65871339, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000533347.5", "url": "https://www.ensembl.org/id/ENST00000533347.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000435823.1", "url": "https://www.ensembl.org/id/ENSP00000435823.1" } ] } }, { "isoform_ac": "H0YCB5-1", "url": "", "sequence": { "sequence": "XQINNVSAMLVLARPVTGPREYVLDLEMVTMNSLMSYRASSVLRLTVFVGAYTF", "length": 54, "header": "tr|H0YCB5-1|H0YCB5_HUMAN Computationally mapped isoform of EGF containing fibulin extracellular matrix protein 2 OS=Homo sapiens OX=9606 GN=EFEMP2 PE=1 SV=1 CANONICAL=O95967-1" }, "locus": { "chromosome": "11", "start_pos": 65867080, "end_pos": 65866919, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000527277.5", "url": "https://www.ensembl.org/id/ENST00000527277.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000431305.1", "url": "https://www.ensembl.org/id/ENSP00000431305.1" } ] } }, { "isoform_ac": "H0YCR9-1", "url": "", "sequence": { "sequence": "XFQIRAGNSQGDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTMNSLMSYRASSVLRLTVFVGAYTF", "length": 69, "header": "tr|H0YCR9-1|H0YCR9_HUMAN Computationally mapped isoform of EGF containing fibulin extracellular matrix protein 2 OS=Homo sapiens OX=9606 GN=EFEMP2 PE=1 SV=1 CANONICAL=O95967-1" }, "locus": { "chromosome": "11", "start_pos": 65867906, "end_pos": 65866919, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000524408.1", "url": "https://www.ensembl.org/id/ENST00000524408.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000432191.1", "url": "https://www.ensembl.org/id/ENSP00000432191.1" } ] } }, { "isoform_ac": "H0YET5-1", "url": "", "sequence": { "sequence": "DECESGAHQCSEAQTCVNFHGGYRCVDTNRCVEPYIQVSENRCLCPASNPLCREQPSSIVHRYMTITSERSVPADVFQIQATSVYPGAYNAFQIRAGNSQGDFYIRGPTPSEEQEGATLPAATLAEEPVVRGRMRKAQGPPLTGAGSSAPRASVTPRGEEVTRRADSRPRPRDLDLAGLQGS", "length": 182, "header": "tr|H0YET5-1|H0YET5_HUMAN Computationally mapped isoform of EGF containing fibulin extracellular matrix protein 2 OS=Homo sapiens OX=9606 GN=EFEMP2 PE=1 SV=1 CANONICAL=O95967-1" }, "locus": { "chromosome": "11", "start_pos": 65868416, "end_pos": 65866575, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000531645.5", "url": "https://www.ensembl.org/id/ENST00000531645.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000436521.1", "url": "https://www.ensembl.org/id/ENSP00000436521.1" } ] } }, { "isoform_ac": "H0YEU0-1", "url": "", "sequence": { "sequence": "SIVHRYMTITSERSVPADVFQIQATSVYPGAYNAFQIRAGNSQGDFYIRQINNVSAMLVLARPVTGPREPRGPH", "length": 74, "header": "tr|H0YEU0-1|FBLN4_HUMAN Computationally mapped isoform of EGF-containing fibulin-like extracellular matrix protein 2 OS=Homo sapiens OX=9606 GN=EFEMP2 PE=1 SV=1 CANONICAL=O95967-1" }, "locus": { "chromosome": "11", "start_pos": 65868007, "end_pos": 65866697, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000526911.1", "url": "https://www.ensembl.org/id/ENST00000526911.1" }, { "database": "Ensembl Peptide", "id": "ENSP00000436536.1", "url": "https://www.ensembl.org/id/ENSP00000436536.1" } ] } }, { "isoform_ac": "O95967-1", "url": "", "sequence": { "sequence": "MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLTIPEACKGEMKCINHYGGYLCLPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDSCVDVDECAQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGPECVDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCHQGYELHRDGFSCSDIDECSYSSYLCQYRCINEPGRFSCHCPQGYQLLATRLCQDIDECESGAHQCSEAQTCVNFHGGYRCVDTNRCVEPYIQVSENRCLCPASNPLCREQPSSIVHRYMTITSERSVPADVFQIQATSVYPGAYNAFQIRAGNSQGDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTMNSLMSYRASSVLRLTVFVGAYTF", "length": 443, "header": "sp|O95967-1|FBLN4_HUMAN Isoform 1 of EGF-containing fibulin-like extracellular matrix protein 2 OS=Homo sapiens OX=9606 GN=EFEMP2 PE=1 SV=3 CANONICAL=O95967-1" }, "locus": { "chromosome": "11", "start_pos": 65872354, "end_pos": 65866921, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000531972.5", "url": "https://www.ensembl.org/id/ENST00000531972.5" }, { "database": "Ensembl Peptide", "id": "ENSP00000435295.1", "url": "https://www.ensembl.org/id/ENSP00000435295.1" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "1199", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1199" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G06356OH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "1199", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1199" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G23863VK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "1199", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1199" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G48414YA", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "1199", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1199" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G50045TK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "1199", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1199" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "G84452RH", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "1199", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/1199" }, { "id": "29741879", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/29741879" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 198, "start_aa": "Asn", "end_pos": 198, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn198", "evidence": [ { "id": "O95967", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95967#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 394, "start_aa": "Asn", "end_pos": 394, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn394", "evidence": [ { "id": "O95967", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/O95967#ptm_processing" } ] } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_reported", "glycoprotein_predicted", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "The integrin alpha v beta 6 binds and activates latent TGF beta 1: a mechanism for regulating pulmonary inflammation and fibrosis.", "journal": "Cell", "date": "1999", "authors": "Munger JS, Huang X, Kawakatsu H, Griffiths MJ, Dalton SL, Wu J, Pittet JF, Kaminski N, Garat C, Matthay MA, Rifkin DB, Sheppard D", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "10025398", "url": "https://glygen.org/publication/PubMed/10025398" } ] }, { "title": "Ultrastructural distribution of 36-kD microfibril-associated glycoprotein (MAGP-36) in human and bovine tissues.", "journal": "The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society", "date": "1999", "authors": "Toyoshima T, Yamashita K, Furuichi H, Shishibori T, Itano T, Kobayashi R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "10424889", "url": "https://glygen.org/publication/PubMed/10424889" } ] }, { "title": "Tropoelastin binding to fibulins, nidogen-2 and other extracellular matrix proteins.", "journal": "FEBS letters", "date": "1999", "authors": "Sasaki T, Gohring W, Miosge N, Abrams WR, Rosenbloom J, Timpl R", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "10544250", "url": "https://glygen.org/publication/PubMed/10544250" } ] }, { "title": "Sequence, recombinant expression and tissue localization of two novel extracellular matrix proteins, fibulin-3 and fibulin-4.", "journal": "Matrix Biol.", "date": "1999", "authors": "Giltay R, Timpl R, Kostka G", "evidence": [ { "database": "UniProtKB", "id": "O95967", "url": "https://www.uniprot.org/uniprot/O95967" } ], "reference": [ { "type": "PubMed", "id": "10601734", "url": "https://glygen.org/publication/PubMed/10601734" } ] }, { "title": "Role of the latent transforming growth factor beta binding protein 1 in fibrillin-containing microfibrils in bone cells in vitro and in vivo.", "journal": "Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research", "date": "2000", "authors": "Dallas SL, Keene DR, Bruder SP, Saharinen J, Sakai LY, Mundy GR, Bonewald LF", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "10646116", "url": "https://glygen.org/publication/PubMed/10646116" } ] }, { "title": "Specific sequence motif of 8-Cys repeats of TGF-beta binding proteins, LTBPs, creates a hydrophobic interaction surface for binding of small latent TGF-beta.", "journal": "Molecular biology of the cell", "date": "2000", "authors": "Saharinen J, Keski-Oja J", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "10930463", "url": "https://glygen.org/publication/PubMed/10930463" } ] }, { "title": "Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.", "journal": "Hum. Genet.", "date": "2000", "authors": "Katsanis N, Venable S, Smith J R, Lupski J R", "evidence": [ { "database": "UniProtKB", "id": "O95967", "url": "https://www.uniprot.org/uniprot/O95967" } ], "reference": [ { "type": "PubMed", "id": "10982184", "url": "https://glygen.org/publication/PubMed/10982184" } ] }, { "title": "The integrin alpha(v)beta8 mediates epithelial homeostasis through MT1-MMP-dependent activation of TGF-beta1.", "journal": "The Journal of cell biology", "date": "2002", "authors": "Mu D, Cambier S, Fjellbirkeland L, Baron JL, Munger JS, Kawakatsu H, Sheppard D, Broaddus VC, Nishimura SL", "evidence": [ { "database": "Reactome", "id": "R-HSA-2129379", "url": "https://www.reactome.org/PathwayBrowser/#R-HSA-2129379" } ], "reference": [ { "type": "PubMed", "id": "11970960", "url": "https://glygen.org/publication/PubMed/11970960" } ] }, { "title": "The integrin alphavbeta3 is a receptor for the latency-associated peptides of transforming growth factors beta1 and beta3.", 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