[ { "uniprot_canonical_ac": "Q5SZK8-1", "uniprot_ac": "Q5SZK8", "uniprot_id": "FREM2_HUMAN", "mass": { "chemical_mass": 351167.0, "monoisotopic_mass": 351167.0 }, "refseq": { "ac": "NP_997244", "name": "FRAS1-related extracellular matrix protein 2 precursor", "summary": "This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014].", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" }, "gene_names": [ { "name": "FREM2", "type": "recommended", "evidence": [ { "id": "Q5SZK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8" } ] }, { "name": "CRYPTOP", "type": "synonym", "evidence": [ { "id": "NP_997244", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" } ] }, { "name": "FRASRS2", "type": "synonym", "evidence": [ { "id": "NP_997244", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" } ] }, { "name": "FREM2", "type": "synonym", "evidence": [ { "id": "NP_997244", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" } ] } ], "protein_names": [ { "name": "FRAS1-related extracellular matrix protein 2", "type": "recommended", "evidence": [ { "id": "Q5SZK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8/entry#names_and_taxonomy" } ] }, { "name": "ECM3 homolog", "type": "synonym", "evidence": [ { "id": "NP_997244", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" }, { "id": "Q5SZK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8/entry#names_and_taxonomy" } ] }, { "name": "FRAS1 related extracellular matrix protein 2", "type": "synonym", "evidence": [ { "id": "NP_997244", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" } ] }, { "name": "FRAS1-related extracellular matrix protein 2 precursor", "type": "synonym", "evidence": [ { "id": "NP_997244", "database": "RefSeq", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" } ] } ], "function": [ { "annotation": "Extracellular matrix protein required for maintenance of the integrity of the skin epithelium and for maintenance of renal epithelia (PubMed:15838507). Required for epidermal adhesion (PubMed:15838507). Involved in the development of eyelids and the anterior segment of the eyeballs (PubMed:29688405, PubMed:30802441).", "evidence": [ { "database": "UniProtKB", "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8#function" }, { "database": "PubMed", "id": "15838507", "url": "https://glygen.org/publication/PubMed/15838507" }, { "database": "PubMed", "id": "29688405", "url": "https://glygen.org/publication/PubMed/29688405" }, { "database": "PubMed", "id": "30802441", "url": "https://glygen.org/publication/PubMed/30802441" } ] }, { "annotation": "FREM2 is thus proposed as a novel GB biomarker and a putative biomarker of glioblastoma stem cells. Both FREM2 and SPRY1 are expressed on the surface of the GB cells, while SPRY1 alone was found overexpressed in the cytosol of non-malignant astrocytes. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_997244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" }, { "database": "PubMed", "id": "29734672", "url": "https://glygen.org/publication/PubMed/29734672" } ] }, { "annotation": "Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.", "evidence": [ { "database": "RefSeq", "id": "NP_997244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" }, { "database": "PubMed", "id": "32643034", "url": "https://glygen.org/publication/PubMed/32643034" } ] }, { "annotation": "Our findings extend the spectrum of FREM2 mutations, and provide insights into opportunities for the prenatal diagnosis of isolated cryptophthalmos. Furthermore, our work highlights the importance of the FREM2 protein during the development of eyelids and the anterior segment of the eyeballs, establishes a suitable animal model for studying epithelial reopening during eyelid development and serves as a valuable reference", "evidence": [ { "database": "RefSeq", "id": "NP_997244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" }, { "database": "PubMed", "id": "30802441", "url": "https://glygen.org/publication/PubMed/30802441" } ] }, { "annotation": "Our results showed that p.Arg2167Trp had a weaker effect in interrupting interactions between FREM2 and FREM1 than FS-associated missense mutation p.Glu1972Lys. Overall, our data demonstrate that the homozygous mutation p.Arg2167Trp in FREM2 causes isolated Cryptophthalmos(CO), which will facilitate our better understanding of the molecular mechanisms underlying the disease", "evidence": [ { "database": "RefSeq", "id": "NP_997244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" }, { "database": "PubMed", "id": "29688405", "url": "https://glygen.org/publication/PubMed/29688405" } ] }, { "annotation": "Targeted resequencing of the 13q13 spondyloarthritis-linked locus identifies a rare variant in FREM2 possibly associated with familial spondyloarthritis.", "evidence": [ { "database": "RefSeq", "id": "NP_997244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" }, { "database": "PubMed", "id": "35640836", "url": "https://glygen.org/publication/PubMed/35640836" } ] }, { "annotation": "This gene encodes an integral membrane protein containing numerous CSPG (chondroitin sulfate proteoglycan element) repeats and Calx-beta domains. The encoded protein localizes to the basement membrane, forming a ternary complex that plays a role in epidermal-dermal interactions. This protein is important for the integrity of skin and renal epithelia. Mutations in this gene are associated with Fraser syndrome. [provided by RefSeq, Apr 2014].", "evidence": [ { "database": "RefSeq", "id": "NP_997244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" } ] } ], "disease": [ { "disease_id": "DOID:0090001", "recommended_name": { "id": "DOID:0090001", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090001", "name": "Fraser syndrome", "description": "A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14." }, "synonyms": [ { "id": "DOID:0090001", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0090001", "name": "cryptophthalmos with other malformations", "description": "" }, { "id": "MONDO:0054737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054737", "name": "Fraser syndrome 1", "description": "" }, { "id": "MONDO:0054737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054737", "name": "Fraser syndrome 1", "description": "" }, { "id": "MONDO:0054737", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054737", "name": "FRASRS1", "description": "" }, { "id": "MIM:219000", "resource": "MIM", "url": "https://www.omim.org/entry/219000", "name": "Fraser syndrome 1", "description": "Fraser syndrome 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "0090001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090001" }, { "id": "0090001", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0090001" } ] }, { "disease_id": "DOID:0111407", "recommended_name": { "id": "DOID:0111407", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111407", "name": "Fraser syndrome 2", "description": "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3." }, "synonyms": [ { "id": "DOID:0111407", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111407", "name": "FRASRS2", "description": "" }, { "id": "MONDO:0054738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054738", "name": "Fraser syndrome 2", "description": "" }, { "id": "MONDO:0054738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054738", "name": "Fraser syndrome 2", "description": "" }, { "id": "MONDO:0054738", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0054738", "name": "FRASRS2", "description": "" }, { "id": "MIM:617666", "resource": "MIM", "url": "https://www.omim.org/entry/617666", "name": "Fraser syndrome 2", "description": "Fraser syndrome 2" } ], "unlinked_id_list": [], "evidence": [ { "id": "617666", "database": "MIM", "url": "https://www.omim.org/entry/617666" }, { "id": "0111407", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111407" } ] }, { "disease_id": "DOID:0111717", "recommended_name": { "id": "DOID:0111717", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111717", "name": "isolated cryptophthalmia", "description": "A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye." }, "synonyms": [ { "id": "DOID:0111717", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111717", "name": "CRYPTOP", "description": "" }, { "id": "DOID:0111717", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111717", "name": "unilateral or bilateral isolated cryptophthalmos", "description": "" }, { "id": "MONDO:0007410", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007410", "name": "isolated cryptophthalmia", "description": "Isolated cryptophtalmia is a congenital abnormality in which the eyelids are absent and skin covers the ocular bulb, which is often microphthalmic. Six cases of complete bilateral crytophthalmia have been described. Transmission is autosomal dominant." }, { "id": "MONDO:0007410", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007410", "name": "nonsyndromic cryptophthalmia", "description": "" }, { "id": "MIM:123570", "resource": "MIM", "url": "https://www.omim.org/entry/123570", "name": "Cryptophthalmos, unilateral or bilateral, isolated", "description": "Cryptophthalmos, unilateral or bilateral, isolated" } ], "unlinked_id_list": [], "evidence": [ { "id": "123570", "database": "MIM", "url": "https://www.omim.org/entry/123570" }, { "id": "0111717", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0111717" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [ { "tissue": { "name": "Adult mammalian kidney", "namespace": "UBERON", "id": "0000082", "url": "http://purl.obolibrary.org/obo/UBERON_0000082" }, "score": "77.46", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000150893", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150893" } ] }, { "tissue": { "name": "Oral cavity", "namespace": "UBERON", "id": "0000167", "url": "http://purl.obolibrary.org/obo/UBERON_0000167" }, "score": "41.27", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000150893", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150893" } ] }, { "tissue": { "name": "Stomach", "namespace": "UBERON", "id": "0000945", "url": "http://purl.obolibrary.org/obo/UBERON_0000945" }, "score": "69.62", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000150893", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150893" } ] }, { "tissue": { "name": "Esophagus", "namespace": "UBERON", "id": "0001043", "url": "http://purl.obolibrary.org/obo/UBERON_0001043" }, "score": "49.23", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000150893", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150893" } ] }, { "tissue": { "name": "Rectum", "namespace": "UBERON", "id": "0001052", "url": "http://purl.obolibrary.org/obo/UBERON_0001052" }, "score": "53.96", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000150893", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150893" } ] }, { "tissue": { "name": "Urinary bladder", "namespace": "UBERON", "id": "0001255", "url": "http://purl.obolibrary.org/obo/UBERON_0001255" }, "score": "61.54", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000150893", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150893" } ] }, { "tissue": { "name": "Thyroid gland", "namespace": "UBERON", "id": "0002046", "url": "http://purl.obolibrary.org/obo/UBERON_0002046" }, "score": "74.44", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000150893", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150893" } ] }, { "tissue": { "name": "Liver", "namespace": "UBERON", "id": "0002107", "url": "http://purl.obolibrary.org/obo/UBERON_0002107" }, "score": "68.57", "present": "MEDIUM", "evidence": [ { "database": "Bgee", "id": "ENSG00000150893", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150893" } ] }, { "tissue": { "name": "Prostate gland", "namespace": "UBERON", "id": "0002367", "url": "http://purl.obolibrary.org/obo/UBERON_0002367" }, "score": "56.39", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000150893", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150893" } ] }, { "tissue": { "name": "Thoracic mammary gland", "namespace": "UBERON", "id": "0005200", "url": "http://purl.obolibrary.org/obo/UBERON_0005200" }, "score": "46.74", "present": "LOW", "evidence": [ { "database": "Bgee", "id": "ENSG00000150893", "url": "https://bgee.org/?page=gene&gene_id=ENSG00000150893" } ] } ], "expression_disease": [ { "significant": "Yes", "trend": "down", "name": "Prostate cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10283", "evidence": [ { "database": "BioXpress", "id": "Q5SZK8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q5SZK8" } ], "disease": [ { "disease_id": "DOID:10283", "recommended_name": { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer", "description": "A male reproductive organ cancer that is located_in the prostate." }, "synonyms": [ { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "NGP - new growth of prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "hereditary prostate cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "malignant tumor of the prostate", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate cancer, familial", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostate neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic cancer", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "prostatic neoplasm", "description": "" }, { "id": "DOID:10283", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:10283", "name": "tumor of the prostate", "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: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": "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: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:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, hereditary, type 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "prostate cancer, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012093", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012093", "name": "HPC3", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, hereditary, type 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "prostate cancer, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012094", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012094", "name": "HPC4", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "prostate cancer, hereditary, type 5", "description": "" }, { "id": "MONDO:0012244", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012244", "name": "HPC5", "description": "" }, { "id": "MONDO: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: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:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "prostate cancer, hereditary, type 9", "description": "" }, { "id": "MONDO:0012597", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012597", "name": "HPC9", "description": "" }, { "id": "MONDO: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:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "EHBP1 familial prostate cancer", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "familial prostate cancer caused by mutation in EHBP1", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "prostate cancer, hereditary, type 12", "description": "" }, { "id": "MONDO:0012741", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012741", "name": "HPC12", "description": "" }, { "id": "MONDO: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: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:0700275", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700275", "name": "prostate cancer, hereditary", "description": "An instance of prostate cancer that is caused by an inherited genomic modification in an individual. Familial prostate cancer (FPC) is a malignant tumor of the prostate with an early onset. FPC is either asymptomatic or causes mictionary symptoms, erectile dysfunction, bone pain, venous compression and infectious or inflammatory syndrome (for the metastatic forms). It is also characterized by familial antecedents." }, { "id": "MIM:601518", "resource": "MIM", "url": "https://www.omim.org/entry/601518", "name": "Prostate cancer, hereditary, 1", "description": "Prostate cancer, hereditary, 1" }, { "id": "MIM:610997", "resource": "MIM", "url": "https://www.omim.org/entry/610997", "name": "Prostate cancer, hereditary, 9", "description": "Prostate cancer, hereditary, 9" }, { "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:611955", "resource": "MIM", "url": "https://www.omim.org/entry/611955", "name": "Prostate cancer, hereditary, 11", "description": "Prostate cancer, hereditary, 11" }, { "id": "MIM:176807", "resource": "MIM", "url": "https://www.omim.org/entry/176807", "name": "Prostate cancer", "description": "Prostate cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10283", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10283" } ] } ] }, { "significant": "No", "trend": "up", "name": "Stomach cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:10534", "evidence": [ { "database": "BioXpress", "id": "Q5SZK8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q5SZK8" } ], "disease": [ { "disease_id": "DOID:10534", "recommended_name": { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:10534", "name": "gastric cancer", "description": "" }, { "id": "DOID:10534", "resource": "Disease Ontology", "url": "https://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": "GC", "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": "MIM:613659", "resource": "MIM", "url": "https://www.omim.org/entry/613659", "name": "Gastric cancer", "description": "Gastric cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" }, { "id": "10534", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10534" } ] } ] }, { "significant": "Yes", "trend": "up", "name": "Urinary bladder cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11054", "evidence": [ { "database": "BioXpress", "id": "Q5SZK8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q5SZK8" } ], "disease": [ { "disease_id": "DOID:11054", "recommended_name": { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "urinary bladder cancer", "description": "An urinary system cancer that results_in malignant growth located_in the urinary bladder." }, "synonyms": [ { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "bladder cancer", "description": "" }, { "id": "DOID:11054", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11054", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "A primary or metastatic malignant neoplasm involving the bladder." }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "bladder cancer, somatic", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "cancer of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant neoplasm, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumor, urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of the urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant tumour of urinary bladder", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "malignant urinary bladder tumour", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder cancer", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant neoplasm", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumor", "description": "" }, { "id": "MONDO:0001187", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0001187", "name": "urinary bladder malignant tumour", "description": "" }, { "id": "MIM:109800", "resource": "MIM", "url": "https://www.omim.org/entry/109800", "name": "Bladder cancer", "description": "Bladder cancer" } ], "unlinked_id_list": [], "evidence": [ { "id": "11054", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11054" } ] } ] }, { "significant": "No", "trend": "up", "name": "Head and neck cancer [DO disease name]", "url": "https://disease-ontology.org/term/DOID:11934", "evidence": [ { "database": "BioXpress", "id": "Q5SZK8", "url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/Q5SZK8" } ], "disease": [ { "disease_id": "DOID:11934", "recommended_name": { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://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": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head and neck tumours", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "head/neck neoplasm", "description": "" }, { "id": "DOID:11934", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:11934", "name": "tumor of head and neck", "description": "" } ], "unlinked_id_list": [ "DOID:1542" ], "evidence": [ { "id": "11934", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11934" } ] } ] }, { "significant": "No", "trend": "down", "name": "Lung cancer [DO disease 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"database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF03160", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF03160", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF16184", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF16184", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "PF19309", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF19309", "database": "Pfam", "categories": [ "Other", "Protein Classification" ] }, { "id": "Q5SZK8", "url": "https://pharos.nih.gov/targets/Q5SZK8", "database": "PHAROS", "categories": [ "Organism-specific" ] }, { "id": "PR:Q5SZK8", "url": "https://proconsortium.org/cgi-bin/entry_pro?id=PR:Q5SZK8", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_997244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5SZK8-1", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q5SZK8-2", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8-2", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MHSAGTPGLSSRRTGNSTSFQPGPPPPPRLLLLLLLLLSLVSRVPAQPAAFGRALLSPGLAGAAGVPAEEAIVLANRGLRVPFGREVWLDPLHDLVLQVQPGDRCAVSVLDNDALAQRPGRLSPKRFPCDFGPGEVRYSHLGARSPSRDRVRLQLRYDAPGGAVVLPLVLEVEVVFTQLEVVTRNLPLVVEELLGTSNALDARSLEFAFQPETEECRVGILSGLGALPRYGELLHYPQVPGGAREGGAPETLLMDCKAFQELGVRYRHTAASRSPNRDWIPMVVELRSRGAPVGSPALKREHFQVLVRIRGGAENTAPKPSFVAMMMMEVDQFVLTALTPDMLAAEDAESPSDLLIFNLTSPFQPGQGYLVSTDDRSLPLSSFTQRDLRLLKIAYQPPSEDSDQERLFELELEVVDLEGAASDPFAFMVVVKPMNTMAPVVTRNTGLILYEGQSRPLTGPAGSGPQNLVISDEDDLEAVRLEVVAGLRHGHLVILGASSGSSAPKSFTVAELAAGQVVYQHDDRDGSLSDNLVLRMVDGGGRHQVQFLFPITLVPVDDQPPVLNANTGLTLAEGETVPILPLSLSATDMDSDDSLLLFVLESPFLTTGHLLLRQTHPPHEKQELLRGLWRKEGAFYERTVTEWQQQDITEGRLFYRHSGPHSPGPVTDQFTFRVQDNHDPPNQSGLQRFVIRIHPVDRLPPELGSGCPLRMVVQESQLTPLRKKWLRYTDLDTDDRELRYTVTQPPTDTDENHLPAPLGTLVLTDNPSVVVTHFTQAQINHHKIAYRPPGQELGVATRVAQFQFQVEDRAGNVAPGTFTLYLHPVDNQPPEILNTGFTIQEKGHHILSETELHVNDVDTDVAHISFTLTQAPKHGHMRVSGQILHVGGLFHLEDIKQGRVSYAHNGDKSLTDSCSLEVSDRHHVVPITLRVNVRPVDDEVPILSHPTGTLESYLDVLENGATEITANVIKGTNEETDDLMLTFLLEDPPLYGEILVNGIPAEQFTQRDILEGSVVYTHTSGEIGLLPKADSFNLSLSDMSQEWRIGGNTIQGVTIWVTILPVDSQAPEIFVGEQLIVMEGDKSVITSVHISAEDVDSLNDDILCTIVIQPTSGYVENISPAPGSEKSRAGIAISAFNLKDLRQGHINYVQSVHKGVEPVEDRFVFRCSDGINFSERQFFPIVIIPTNDEQPEMFMREFMVMEGMSLVIDTPILNAADADVPLDDLTFTITQFPTHGHIMNQLINGTVLVESFTLDQIIESSSIIYEHDDSETQEDSFVIKLTDGKHSVEKTVLIIVIPVDDETPRMTINNGLEIEIGDTKIINNKILMATDLDSEDKSLVYIIRYGPGHGLLQRRKPTGAFENITLGMNFTQDEVDRNLIQYVHLGQEGIRDLIKFDVTDGINPLIDRYFYVSIGSIDIVFPDVISKGVSLKEGGKVTLTTDLLSTSDLNSPDENLVFTITRAPMRGHLECTDQPGVSITSFTQLQLAGNKIYYIHTADDEVKMDSFEFQVTDGRNPVFRTFRISISDVDNKKPVVTIHKLVVSESENKLITPFELTVEDRDTPDKLLKFTITQVPIHGHLLFNNTRPVMVFTKQDLNENLISYKHDGTESSEDSFSFTVTDGTHTDFYVFPDTVFETRRPQVMKIQVLAVDNSVPQIAVNKGASTLRTLATGHLGFMITSKILKVEDRDSLHISLRFIVTEAPQHGYLLNLDKGNHSITQFTQADIDDMKICYVLREGANATSDMFYFAVEDGGGNKLTYQNFRLNWAWISFEKEYYLVNEDSKFLDVVLKRRGYLGETSFISIGTRDRTAEKDKDFKGKAQKQVQFNPGQTRATWRVRILSDGEHEQSETFQVVLSEPVLAALEFPTVATVEIVDPGDEPTVFIPQSKYSVEEDVGELFIPIRRSGDVSQELMVVCYTQQGTATGTVPTSVLSYSDYISRPEDHTSVVRFDKDEREKLCRIVIIDDSLYEEEETFHVLLSMPMGGRIGSEFPGAQVTIVPDKDDEPIFYFGDVEYSVDESAGYVEVQVWRTGTDLSKSSSVTVRSRKTDPPSADAGTDYVGISRNLDFAPGVNMQPVRVVILDDLGQPALEGIEKFELVLRMPMNAALGEPSKATVSINDSVSDLPKMQFKERIYTGSESDGQIVTMIHRTGDVQYRSSVRCYTRQGSAQVMMDFEERPNTDTSIITFLPGETEKPCILELMDDVLYEEVEELRLVLGTPQSNSPFGAAVGEQNETLIRIRDDADKTVIKFGETKFSVTEPKEPGESVVIRIPVIRQGDTSKVSIVRVHTKDGSATSGEDYHPVSEEIEFKEGETQHVVEIEVTFDGVREMREAFTVHLKPDENMIAEMQLTKAIVYIEEMSSMADVTFPSVPQIVSLLMYDDTSKAKESAEPMSGYPVICITACNPKYSDYDKTGSICASENINDTLTRYRWLISAPAGPDGVTSPMREVDFDTFFTSSKMVTLDSIYFQPGSRVQCAARAVNTNGDEGLELMSPIVTISREEGLCQPRVPGVVGAEPFSAKLRYTGPEDADYTNLIKLTVTMPHIDGMLPVISTRELSNFELTLSPDGTRVGNHKCSNLLDYTEVKTHYGFLTDATKNPEIIGETYPYQYSLSIRGSTTLRFYRNLNLEACLWEFVSYYDMSELLADCGGTIGTDGQVLNLVQSYVTLRVPLYVSYVFHSPVGVGGWQHFDLKSELRLTFVYDTAILWNDGIGSPPEAELQGSLYPTSMRIGDEGRLAVHFKTEAQFHGLFVLSHPASFTSSVIMSADHPGLTFSLRLIRSEPTYNQPVQQWSFVSDFAVRDYSGTYTVKLVPCTAPSHQEYRLPVTCNPREPVTFDLDIRFQQVSDPVAAEFSLNTQMYLLSKKSLWLSDGSMGFGQESDVAFAEGDIIYGRVMVDPVQNLGDSFYCSIEKVFLCTGADGYVPKYSPMNAEYGCLADSPSLLYRFKIVDKAQPETQATSFGNVLFNAKLAVDDPEAILLVNQPGSDGFKVDSTPLFQVALGREWYIHTIYTVRSKDNANRGIGKRSVEYHSLVSQGKPQSTTKSRKKREIRSTPSLAWEIGAENSRGTNIQHIALDRTKRQIPHGRAPPDGILPWELNSPSSAVSLVTVVGGTTVGLLTICLTVIAVLMCRGKESFRGKDAPKGSSSSEPMVPPQSHHNDSSEV", "length": 3169, "header": "sp|Q5SZK8-1|FREM2_HUMAN Isoform 1 of FRAS1-related extracellular matrix protein 2 OS=Homo sapiens OX=9606 GN=FREM2 PE=1 SV=3 CANONICAL=Q5SZK8-1" }, "isoforms": [ { "isoform_ac": "Q5SZK8-1", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8/entry#Q5SZK8-1", "sequence": { "sequence": "MHSAGTPGLSSRRTGNSTSFQPGPPPPPRLLLLLLLLLSLVSRVPAQPAAFGRALLSPGLAGAAGVPAEEAIVLANRGLRVPFGREVWLDPLHDLVLQVQPGDRCAVSVLDNDALAQRPGRLSPKRFPCDFGPGEVRYSHLGARSPSRDRVRLQLRYDAPGGAVVLPLVLEVEVVFTQLEVVTRNLPLVVEELLGTSNALDARSLEFAFQPETEECRVGILSGLGALPRYGELLHYPQVPGGAREGGAPETLLMDCKAFQELGVRYRHTAASRSPNRDWIPMVVELRSRGAPVGSPALKREHFQVLVRIRGGAENTAPKPSFVAMMMMEVDQFVLTALTPDMLAAEDAESPSDLLIFNLTSPFQPGQGYLVSTDDRSLPLSSFTQRDLRLLKIAYQPPSEDSDQERLFELELEVVDLEGAASDPFAFMVVVKPMNTMAPVVTRNTGLILYEGQSRPLTGPAGSGPQNLVISDEDDLEAVRLEVVAGLRHGHLVILGASSGSSAPKSFTVAELAAGQVVYQHDDRDGSLSDNLVLRMVDGGGRHQVQFLFPITLVPVDDQPPVLNANTGLTLAEGETVPILPLSLSATDMDSDDSLLLFVLESPFLTTGHLLLRQTHPPHEKQELLRGLWRKEGAFYERTVTEWQQQDITEGRLFYRHSGPHSPGPVTDQFTFRVQDNHDPPNQSGLQRFVIRIHPVDRLPPELGSGCPLRMVVQESQLTPLRKKWLRYTDLDTDDRELRYTVTQPPTDTDENHLPAPLGTLVLTDNPSVVVTHFTQAQINHHKIAYRPPGQELGVATRVAQFQFQVEDRAGNVAPGTFTLYLHPVDNQPPEILNTGFTIQEKGHHILSETELHVNDVDTDVAHISFTLTQAPKHGHMRVSGQILHVGGLFHLEDIKQGRVSYAHNGDKSLTDSCSLEVSDRHHVVPITLRVNVRPVDDEVPILSHPTGTLESYLDVLENGATEITANVIKGTNEETDDLMLTFLLEDPPLYGEILVNGIPAEQFTQRDILEGSVVYTHTSGEIGLLPKADSFNLSLSDMSQEWRIGGNTIQGVTIWVTILPVDSQAPEIFVGEQLIVMEGDKSVITSVHISAEDVDSLNDDILCTIVIQPTSGYVENISPAPGSEKSRAGIAISAFNLKDLRQGHINYVQSVHKGVEPVEDRFVFRCSDGINFSERQFFPIVIIPTNDEQPEMFMREFMVMEGMSLVIDTPILNAADADVPLDDLTFTITQFPTHGHIMNQLINGTVLVESFTLDQIIESSSIIYEHDDSETQEDSFVIKLTDGKHSVEKTVLIIVIPVDDETPRMTINNGLEIEIGDTKIINNKILMATDLDSEDKSLVYIIRYGPGHGLLQRRKPTGAFENITLGMNFTQDEVDRNLIQYVHLGQEGIRDLIKFDVTDGINPLIDRYFYVSIGSIDIVFPDVISKGVSLKEGGKVTLTTDLLSTSDLNSPDENLVFTITRAPMRGHLECTDQPGVSITSFTQLQLAGNKIYYIHTADDEVKMDSFEFQVTDGRNPVFRTFRISISDVDNKKPVVTIHKLVVSESENKLITPFELTVEDRDTPDKLLKFTITQVPIHGHLLFNNTRPVMVFTKQDLNENLISYKHDGTESSEDSFSFTVTDGTHTDFYVFPDTVFETRRPQVMKIQVLAVDNSVPQIAVNKGASTLRTLATGHLGFMITSKILKVEDRDSLHISLRFIVTEAPQHGYLLNLDKGNHSITQFTQADIDDMKICYVLREGANATSDMFYFAVEDGGGNKLTYQNFRLNWAWISFEKEYYLVNEDSKFLDVVLKRRGYLGETSFISIGTRDRTAEKDKDFKGKAQKQVQFNPGQTRATWRVRILSDGEHEQSETFQVVLSEPVLAALEFPTVATVEIVDPGDEPTVFIPQSKYSVEEDVGELFIPIRRSGDVSQELMVVCYTQQGTATGTVPTSVLSYSDYISRPEDHTSVVRFDKDEREKLCRIVIIDDSLYEEEETFHVLLSMPMGGRIGSEFPGAQVTIVPDKDDEPIFYFGDVEYSVDESAGYVEVQVWRTGTDLSKSSSVTVRSRKTDPPSADAGTDYVGISRNLDFAPGVNMQPVRVVILDDLGQPALEGIEKFELVLRMPMNAALGEPSKATVSINDSVSDLPKMQFKERIYTGSESDGQIVTMIHRTGDVQYRSSVRCYTRQGSAQVMMDFEERPNTDTSIITFLPGETEKPCILELMDDVLYEEVEELRLVLGTPQSNSPFGAAVGEQNETLIRIRDDADKTVIKFGETKFSVTEPKEPGESVVIRIPVIRQGDTSKVSIVRVHTKDGSATSGEDYHPVSEEIEFKEGETQHVVEIEVTFDGVREMREAFTVHLKPDENMIAEMQLTKAIVYIEEMSSMADVTFPSVPQIVSLLMYDDTSKAKESAEPMSGYPVICITACNPKYSDYDKTGSICASENINDTLTRYRWLISAPAGPDGVTSPMREVDFDTFFTSSKMVTLDSIYFQPGSRVQCAARAVNTNGDEGLELMSPIVTISREEGLCQPRVPGVVGAEPFSAKLRYTGPEDADYTNLIKLTVTMPHIDGMLPVISTRELSNFELTLSPDGTRVGNHKCSNLLDYTEVKTHYGFLTDATKNPEIIGETYPYQYSLSIRGSTTLRFYRNLNLEACLWEFVSYYDMSELLADCGGTIGTDGQVLNLVQSYVTLRVPLYVSYVFHSPVGVGGWQHFDLKSELRLTFVYDTAILWNDGIGSPPEAELQGSLYPTSMRIGDEGRLAVHFKTEAQFHGLFVLSHPASFTSSVIMSADHPGLTFSLRLIRSEPTYNQPVQQWSFVSDFAVRDYSGTYTVKLVPCTAPSHQEYRLPVTCNPREPVTFDLDIRFQQVSDPVAAEFSLNTQMYLLSKKSLWLSDGSMGFGQESDVAFAEGDIIYGRVMVDPVQNLGDSFYCSIEKVFLCTGADGYVPKYSPMNAEYGCLADSPSLLYRFKIVDKAQPETQATSFGNVLFNAKLAVDDPEAILLVNQPGSDGFKVDSTPLFQVALGREWYIHTIYTVRSKDNANRGIGKRSVEYHSLVSQGKPQSTTKSRKKREIRSTPSLAWEIGAENSRGTNIQHIALDRTKRQIPHGRAPPDGILPWELNSPSSAVSLVTVVGGTTVGLLTICLTVIAVLMCRGKESFRGKDAPKGSSSSEPMVPPQSHHNDSSEV", "length": 3169, "header": "sp|Q5SZK8-1|FREM2_HUMAN Isoform 1 of FRAS1-related extracellular matrix protein 2 OS=Homo sapiens OX=9606 GN=FREM2 PE=1 SV=3 CANONICAL=Q5SZK8-1" }, "locus": { "chromosome": "13", "start_pos": 38880784, "end_pos": 38687345, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENST00000280481.9", "url": "https://www.ensembl.org/id/ENST00000280481.9" }, { "database": "Ensembl Peptide", "id": "ENSP00000280481.7", "url": "https://www.ensembl.org/id/ENSP00000280481.7" } ] } }, { "isoform_ac": "Q5SZK8-2", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8/entry#Q5SZK8-2", "sequence": { "sequence": "MHSAGTPGLSSRRTGNSTSFQPGPPPPPRLLLLLLLLLSLVSRVPAQPAAFGRALLSPGLAGAAGVPAEEAIVLANRGLRVPFGREVWLDPLHDLVLQVQPGDRCAVSVLDNDALAQRPGRLSPKRFPCDFGPGEVRYSHLGARSPSRDRVRLQLRYDAPGGAVVLPLVLEVEVVFTQLEVVTRNLPLVVEELLGTSNALDARSLEFAFQPETEECRVGILSGLGALPRYGELLHYPQVPGGAREGGAPETLLMDCKAFQELGVRYRHTAASRSPNRDWIPMVVELRSRGAPVGSPALKREHFQVLVRIRGGAENTAPKPSFVAMMMMEVDQFVLTALTPDMLAAEDAESPSDLLIFNLTSPFQPGQGYLVSTDDRSLPLSSFTQRDLRLLKIAYQPPSEDSDQERLFELELEVVDLEGAASDPFAFMVVVKPMNTMAPVVTRNTGLILYEGQSRPLTGPAGSGPQNLVISDEDDLEAVRLEVVAGLRHGHLVILGASSGSSAPKSFTVAELAAGQVVYQHDDRDGSLSDNLVLRMVDGGGRHQVQFLFPITLVPVDDQPPVLNANTGLTLAEGETVPILPLSLSATDMDSDDSLLLFVLESPFLTTGHLLLRQTHPPHEKQELLRGLWRKEGAFYERTVTEWQQQDITEGRLFYRHSGPHSPGPVTDQFTFRVQDNHDPPNQSGLQRFVIRIHPVDRLPPELGSGCPLRMVVQESQLTPLRKKWLRYTDLDTDDRELRYTVTQPPTDTDENHLPAPLGTLVLTDNPSVVVTHFTQAQINHHKIAYRPPGQELGVATRVAQFQFQVEDRAGNVAPGTFTLYLHPVDNQPPEILNTGFTIQEKGHHILSETELHVNDVDTDVAHISFTLTQAPKHGHMRVSGQILHVGGLFHLEDIKQGRVSYAHNGDKSLTDSCSLEVSDRHHVVPITLRVNVRPVDDEVPILSHPTGTLESYLDVLENGATEITANVIKGTNEETDDLMLTFLLEDPPLYGEILVNGIPAEQFTQRDILEGSVVYTHTSGEIGLLPKADSFNLSLSDMSQEWRIGGNTIQGVTIWVTILPVDSQAPEIFVGEQLIVMEGDKSVITSVHISAEDVDSLNDDILCTIVIQPTSGYVENISPAPGSEKSRAGIAISAFNLKDLRQGHINYVQSVHKGVEPVEDRFVFRCSDGINFSERQFFPIVIIPTNDEQPEMFMREFMVMEGMSLVIDTPILNAADADVPLDDLTFTITQFPTHGHIMNQLINGTVLVESFTLDQIIESSSIIYEHDDSETQEDSFVIKLTDGKHSVEKTVLIIVIPVDDETPRMTINNGLEIEIGDTKIINNKILMATDLDSEDKSLVYIIRYGPGHGLLQRRKPTGAFENITLGMNFTQDEVDRNLIQYVHLGQEGIRDLIKFDVTDGINPLIDRYFYVSIGSIDIVFPDVISKGVSLKEGGKVTLTTDLLSTSDLNSPDENLVFTITRAPMRGHLECTDQPGVSITSFTQLQLAGNKIYYIHTADDEVKMDSFEFQVTDGRNPVFRTFRISISDVDNKKPVVTIHKLVVSESENKLITPFELTVEDRDTPDKLLKFTITQVPIHGHLLFNNTRPVMVFTKQDLNENLISYKHDGTESSEDSFSFTVTDGTHTDFYVFPDTVFETRRPQVMKIQVLAVDNSVPQIAVNKGASTLRTLATGHLGFMITSKILKVEDRDSLHISLRFIVTEAPQHGYLLNLDKGNHSITQFTQADIDDMKICYVLREGANATSDMFYFAVEDGGGNKLTYQNFRLNWAWISFEKEYYLVNEDSKFLDVVLKRRGYLGETSFISIGTRDRTAEKDKDFKGKAQKQVQFNPGQTRATWRVRILSDGEHEQSETFQVVLSEPVLAALEFPTVATVEIVDPGDEPTVFIPQSKYSVEEDVGELFIPIRRSGDVSQELMVVCYTQQGTATGTVPTSVLSYSDYISRPEDHTSVVRFDKDEREKLCRIVIIDDSLYEEEETFHVLLSMPMGGRIGSEFPGAQVTIVPDKDDEPIFYFGDVEYSVDESAGYVEVQVWRTGTDLSKSSSVTVRSRKTDPPSADAGTDYVGISRNLDFAPGVNMQPVRVVILDDLGQPALEGIEKFELVLRMPMNAALGEPSKATVSINDSVSDLPKMQFKERIYTGSESDGQIVTMIHRTGDVQYRSSVRCYTRQGSAQVMMDFEERPNTDTSIITFLPGETEKPCILELMDDVLYEEVEELRLVLGTPQSNSPFGAAVGEQNETLIRIRDDADKTVIKFGETKFSVTEPKEPGESVVIRIPVIRQGDTSKVSIVRVHTKDGSATSGEDYHPVSEEIEFKEGETQHVVEIEVTFDGVREMREAFTVHLKPDENMIAEMQLTKAIVYIEEMSSMADVTFPSVPQIVSLLMYDDTSKAKESAEPMSGYPVICITACNPKYSDYDKTGSICASENINDTLTRYRWLISAPAGPDGVTSPMREVDFDTFFTSSKMVTLDSIYFQPGSRVQCAARAVNTNGDEGLELMSPIVTISREEGLCQPRVPGVVGAEPFSAKLRYTGPEDADYTNLIKLTVTMPHIDGMLPVISTRELSNFELTLSPDGTRVGNHKCSNLLDYTEVKTHYGFLTDATKNPEIIGETYPYQYSLSIRGSTTLRFYRNLNLEACLWEFVSYYDMSELLADCGGTIGTDGQVQIYNI", "length": 2667, "header": "sp|Q5SZK8-2|FREM2_HUMAN Isoform 2 of FRAS1-related extracellular matrix protein 2 OS=Homo sapiens OX=9606 GN=FREM2 PE=1 SV=3 CANONICAL=Q5SZK8-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "O-linked", "subtype": "other", "prediction_tool_list": [ { "label": "isoglyp", "url": "https://github.com/jonmohl/ISOGlyP" } ], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1111, "start_aa": "Thr", "end_pos": 1111, "end_aa": "Thr", "residue": "Thr", "site_lbl": "Thr1111", "evidence": [ { "id": "GLY_001151", "database": "GlyGen", "url": "https://data.glygen.org/GLY_001151" } ], "filter_code": "00000000000000001000.00000000001000.0.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1244, "start_aa": "Asn", "end_pos": 1244, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1244", "evidence": [ { "id": "Q5SZK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 1369, "start_aa": "Asn", "end_pos": 1369, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1369", "evidence": [ { "id": "Q5SZK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" }, { "glytoucan_ac": "G05962QB", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FTITQVPIHGHLLFnNTRPVMVFTK", "relation": "attached", "comment": "", "icn3d_view": {}, "start_pos": 1584, "start_aa": "Asn", "end_pos": 1584, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1584", "evidence": [ { "id": "37074911", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37074911" }, { "id": "PDC000471", "database": "PDC", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "filter_code": "00100000000000000000.0000000.00010000000000.0001000.1110100000.000011000011101100.00100.01000" }, { "glytoucan_ac": "G17208MA", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "FTITQVPIHGHLLFNNTR", "relation": "attached", "comment": "", "icn3d_view": {}, 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"database": "PubMed", "url": "https://glygen.org/publication/PubMed/23090970" } ], "filter_code": "00100000000000000000.00010000000000.00.01001" }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "other", "prediction_tool_list": [], "site_category": "predicted", "site_category_dict": { "predicted": true }, "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_pos": 358, "start_aa": "Asn", "end_pos": 358, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn358", "evidence": [ { "id": "Q5SZK8", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8#ptm_processing" } ], "filter_code": "00100000000000000000.00010000000000.0.01001" }, { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "prediction_tool_list": [], "site_category": "reported_with_glycan", "site_category_dict": { "reported_with_glycan": true }, "site_seq": "", "relation": "attached", "comment": "O-GlcNAcylation", "icn3d_view": {}, "evidence": [ { "id": "37217939", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/37217939" }, { "id": "Q5SZK8", "database": "O-GlcNAc Database", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5SZK8" } ], "filter_code": "00000000000000000000.0000000.00000001000000.1000000.0100000000.110100100001111011.10000.01000" } ], "phosphorylation": [], "glycation": [], "keywords": [ "glycoprotein", "glycoprotein_predicted", "glycoprotein_reported", "glycoprotein_reported_with_glycan" ], "publication": [ { "title": "Deep quantitative glycoproteomics reveals gut microbiome induced remodeling of the brain glycoproteome", "journal": "bioRxiv", "date": "2023", "authors": "Potel C.M., Burtscher M.L., Garrido-Rodriguez M., Brauer-Nikonow A., Becher I., Typas A., Zimmermann M., Savitski M.", "evidence": [ { "database": "Data Submission", "id": "GLY_000888", "url": "http://data.glygen.org/GLY_000888" } ], "reference": [ { "type": "DOI", "id": "10.1101/2023.09.13.557529", "url": "https://glygen.org/publication/DOI/10.1101/2023.09.13.557529" } ] }, { "title": "Identification of a new gene mutated in Fraser syndrome and mouse myelencephalic blebs.", "journal": "Nature genetics", "date": "2005", "authors": "Jadeja S, Smyth I, Pitera JE, Taylor MS, van Haelst M, Bentley E, McGregor L, Hopkins J, Chalepakis G, Philip N, Perez Aytes A, Watt FM, Darling SM, Jackson I, Woolf AS, Scambler PJ", "evidence": [ { "database": "UniProtKB", "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8" } ], "reference": [ { "type": "PubMed", "id": "15838507", "url": "https://glygen.org/publication/PubMed/15838507" } ] }, { "title": "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.", "journal": "Journal of proteome research", "date": "2005", "authors": "Liu T, Qian WJ, Gritsenko MA, Camp DG 2nd, Monroe ME, Moore RJ, Smith RD", "evidence": [ { "database": "UniProtKB", "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8#ptm_processing" }, { "database": "UniProtKB", "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8" } ], "reference": [ { "type": "PubMed", "id": "16335952", "url": "https://glygen.org/publication/PubMed/16335952" } ] }, { "title": "Quantification of the N-glycosylated secretome by super-SILAC during breast cancer progression and in human blood samples.", "journal": "Molecular & cellular proteomics : MCP", "date": "2013", "authors": "Boersema PJ, Geiger T, Wisniewski JR, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "23090970", "url": "https://glygen.org/publication/PubMed/23090970" } ] }, { "title": "N-linked glycosylation enrichment for in-depth cell surface proteomics of diffuse large B-cell lymphoma subtypes.", "journal": "Molecular & cellular proteomics : MCP", "date": "2014", "authors": "Deeb SJ, Cox J, Schmidt-Supprian M, Mann M", "evidence": [ { "database": "GlyGen", "id": "GLY_000143", "url": "https://data.glygen.org/GLY_000143" } ], "reference": [ { "type": "PubMed", "id": "24190977", "url": "https://glygen.org/publication/PubMed/24190977" } ] }, { "title": "Endoplasmic Reticulum Aminopeptidase 1 (ERAP1) Polymorphism Relevant to Inflammatory Disease Shapes the Peptidome of the Birdshot Chorioretinopathy-Associated HLA-A*29:02 Antigen.", "journal": "Molecular & cellular proteomics : MCP", "date": "2015-07", "authors": "Alvarez-Navarro Carlos, Mart\u00edn-Esteban Adrian, Barnea Eilon, Admon Arie, L\u00f3pez de Castro Jos\u00e9 A", "evidence": [ { "database": "IEDB", "id": "428039", "url": "https://www.iedb.org/epitope/428039" } ], "reference": [ { "type": "PubMed", "id": "25892735", "url": "https://glygen.org/publication/PubMed/25892735" } ] }, { "title": "A homozygous mutation p.Arg2167Trp in FREM2 causes isolated cryptophthalmos.", "journal": "Human molecular genetics", "date": "2018", "authors": "Yu Q, Lin B, Xie S, Gao S, Li W, Liu Y, Wang H, Huang D, Xie Z", "evidence": [ { "database": "UniProtKB", "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8" }, { "database": "RefSeq", "id": "NP_997244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" } ], "reference": [ { "type": "PubMed", "id": "29688405", "url": "https://glygen.org/publication/PubMed/29688405" } ] }, { "title": "Meta-Analysis and Experimental Validation Identified FREM2 and SPRY1 as New Glioblastoma Marker Candidates.", "journal": "International journal of molecular sciences", "date": "2018", "authors": "Vidak M, Jovcevska I, Samec N, Zottel A, Liovic M, Rozman D, Dzeroski S, Juvan P, Komel R", "evidence": [ { "database": "RefSeq", "id": "NP_997244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" } ], "reference": [ { "type": "PubMed", "id": "29734672", "url": "https://glygen.org/publication/PubMed/29734672" } ] }, { "title": "Loss-of-function mutations in FREM2 disrupt eye morphogenesis.", "journal": "Experimental eye research", "date": "2019", "authors": "Zhang X, Wang D, Dongye M, Zhu Y, Chen C, Wang R, Long E, Liu Z, Wu X, Lin D, Chen J, Lin Z, Wang J, Li W, Li Y, Li D, Lin H", "evidence": [ { "database": "UniProtKB", "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8" }, { "database": "RefSeq", "id": "NP_997244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" } ], "reference": [ { "type": "PubMed", "id": "30802441", "url": "https://glygen.org/publication/PubMed/30802441" } ] }, { "title": "Substantial Influence of ERAP2 on the HLA-B*40:02 Peptidome: Implications for HLA-B*27-Negative Ankylosing Spondylitis.", "journal": "Molecular & cellular proteomics : MCP", "date": "2019-11", "authors": "Lorente Elena, Redondo-Ant\u00f3n Jennifer, Mart\u00edn-Esteban Adrian, Guasp Pablo, Barnea Eilon, Lauzurica Pilar, Admon Arie, L\u00f3pez de Castro Jos\u00e9 A", "evidence": [ { "database": "IEDB", "id": "477797", "url": "https://www.iedb.org/epitope/477797" } ], "reference": [ { "type": "PubMed", "id": "31530632", "url": "https://glygen.org/publication/PubMed/31530632" } ] }, { "title": "Mass Spectrometry Based Immunopeptidomics Leads to Robust Predictions of Phosphorylated HLA Class I Ligands.", "journal": "Molecular & cellular proteomics : MCP", "date": "2020-02", "authors": "Solleder Marthe, Guillaume Philippe, Racle Julien, Michaux Justine, Pak Hui-Song, M\u00fcller Markus, Coukos George, Bassani-Sternberg Michal, Gfeller David", "evidence": [ { "database": "IEDB", "id": "876576", "url": "https://www.iedb.org/epitope/876576" }, { "database": "IEDB", "id": "879382", "url": "https://www.iedb.org/epitope/879382" }, { "database": "IEDB", "id": "879465", "url": "https://www.iedb.org/epitope/879465" }, { "database": "IEDB", "id": "992260", "url": "https://www.iedb.org/epitope/992260" } ], "reference": [ { "type": "PubMed", "id": "31848261", "url": "https://glygen.org/publication/PubMed/31848261" } ] }, { "title": "Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families.", "journal": "Journal of nephrology", "date": "2021", "authors": "Al-Hamed MH, Sayer JA, Alsahan N, Tulbah M, Kurdi W, Ambusaidi Q, Ali W, Imtiaz F", "evidence": [ { "database": "RefSeq", "id": "NP_997244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" } ], "reference": [ { "type": "PubMed", "id": "32643034", "url": "https://glygen.org/publication/PubMed/32643034" } ] }, { "title": "Targeted resequencing of the 13q13 spondyloarthritis-linked locus identifies a rare variant in FREM2 possibly associated with familial spondyloarthritis.", "journal": "Joint bone spine", "date": "2022-11", "authors": "Mambueni Hendrick Mambu, Hue Christophe, Jobart-Malfait Aude, Said-Nahal Roula, El Hafci Hanane, Petite Herv\u00e9, Nich Christophe, Breban Maxime, Costantino F\u00e9licie, Garchon Henri-Jean", "evidence": [ { "database": "RefSeq", "id": "NP_997244", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_997244" } ], "reference": [ { "type": "PubMed", "id": "35640836", "url": "https://glygen.org/publication/PubMed/35640836" } ] }, { "title": "Integrated glycoproteomic characterization of clear cell renal cell carcinoma.", "journal": "Cell reports", "date": "2023-05-30", "authors": "Lih T Mamie, Cho Kyung-Cho, Schnaubelt Michael, Hu Yingwei, Zhang Hui", "evidence": [ { "database": "PDC", "id": "PDC000471", "url": "https://proteomic.datacommons.cancer.gov/pdc/study/PDC000471" } ], "reference": [ { "type": "PubMed", "id": "37074911", "url": "https://glygen.org/publication/PubMed/37074911" } ] }, { "title": "Extracellular arginine availability modulates eIF2\u03b1 O-GlcNAcylation and heme oxygenase 1 translation for cellular homeostasis.", "journal": "Journal of biomedical science", "date": "2023-05-22", "authors": "Hung Yu-Wen, Ouyang Ching, Ping Xiaoli, Qi Yue, Wang Yi-Chang, Kung Hsing-Jien, Ann David K", "evidence": [ { "database": "O-GlcNAc Database", "id": "Q5SZK8", "url": "https://www.oglcnac.mcw.edu/search/?query_protein=Q5SZK8" } ], "reference": [ { "type": "PubMed", "id": "37217939", "url": "https://glygen.org/publication/PubMed/37217939" } ] } ], "pathway": [ { "id": "hsa:341640", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?hsa:341640", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "A0A8V0XFN7-1", "protein_name": "FRAS1 related extracellular matrix 2", "gene_name": "FREM2", "tax_id": 9031, "organism": "Gallus gallus", "sequence": { "sequence": "MQAFLAVPQRLPAGLLLLAGCVCLGLPDPPLPPDRAAVSSPWGPEAATPVVVANRGLRVPLGRSAWLDPTRDLVLQVQPGDRCHLTVLDEDPLWQRPGRLSPRRFPCDFGPRDVRYSHLGGRSPARDRVRLQLRYDSPSRALVLPLVLEVEVLFTQLEIVTRNLPLVVERLRGTSSPLDARSLEFAFEPGRQRCRVGLLPSLTGLPRYGEILNYPTAVAMPVGGSVEAVGDGPVPASMWDCEEFLRLGLRYRHTAAGSSPNRDLVPLVAELWEAAGGRALLKREYFQVLVRIRGGMENVAPKPSFMAMLMMEVDQFVLTALTPDMLAAEDTESPPDLLLFNITSPFGLGQGYMVSTDDRSLPISSFSQRDVRELRIAYQPPVEDSDRERLFELELEVLDPEGAASEPFAFVIVVKPMNTLAPVVTRNTGLVLYEGQSRPLSDPGPSPNLVISDEDDLEQVQVSVVAGLRHGHLTLLEDTPASAAPRKHFTVAELAAGRVIYQHDGSESPLSDNLVLRLEDGGSRHRVEFLFPITLVPTDDQPPLLNANTGLAIAEGETVPITTRALSATDIDSQDAILLFTVESGPSAGQLLLRQAQPPPGWEEEEEDEGFSWRRVSGVVGSSLIYEKPVREWLQQDIVEGRLYYHHFGPHSPGPGVVLDQFVFRVQDDNDPPNRSGPQTFVIRVHPVDRLAPELHSSSSLHLIVAEQQVTPLRRKHLCYTDQDSGDRELRYTVTQPPTDTDSNHPPDEHGARLGSLVLTEDHSVEVTHFTQAQINHHKISYRPPQEELGVAPHLIQFHYQVEDAAGNAAEGTFTIYLQPVDNQPPEITNTGFTLPEGGSHVLSPTELDASDTDTELAHLRFILTQAPRYGQLQLSGYSLILGGAFGLEDIRQGRVVYVHSGAETNSDTCRLDVSDGVHVVPITLKMNVHPVDDEIPTLRLAPGTVGSYLDVLENGAAEITANVIQGTDEDTDDLMLTFIVEDPPQHGSILVQGVPAERFSQRDVLDGAVVYAHTSGEIGLLPKEDTFNLTLSDLSEEWNIRGNVVQGVSVLVTILPVDNKAPEIFVGEQFRVMEGDKRVITPAHLRAEDVDTPSDDILCTIVAQSTSGYVENISPAPGSEKSRAGIAISAFTLKDLRQRHIFYVQSIHKGVEPVEDRFAFRCSDGINFSQRHVFPIVIMPMNDEEPEIFIREFVVMEGMSLVIDTPILNAVDGDIPADKLTFTITRLPRHGHIVNQLINGTVLAESFTLDQITESSNILYEHDDSETREDNFEVKLSDGKHTTVKTIFIMVIPVDDETPRMAINDGLEIEIGETRTIHNRILKATDLDSEDKTLTYIVRYGPGQGLLQRLKPSGGVENITLGMNFTQDEVDRNLIRYMHFGREGVRDLIKFDVTDGINPLIDRYFYVTVGSIDIVFPDVISKGVSLKEGGKVTLTTDLLSTSDLNSPDENLVFTITRAPVRGHLECTDQPGVPISTFTQLLLAGNKIYYIHTSEDEVKMDSFEFEVTDGYNPVFRTFRISISDVDNKKPIVTIHNLVVSENEYKLITPFELTVEDRDTPDPLLKFVITQIPVHGQIMFNNSKPVTTFTKQDLNENLISYKHDGTESVEDSFSFTVTDGTHTDFYVFPNTVFETRRPQTMKIRIMAVDNSIPQIVTNRGAQTLRILATGHVGFLITNKVLKVEDRDSLHIALKIRITEGPRHGFLIHLGKGNHSISQFTQADIDDMKICYVLRAGDNATSDIFHFIVEDSGGNKLKNQHFRLNWAWISLEKEYYLVNEDSKYLDVVLKRRGYLGETSFISISTRDGTAKKDKDFRGKAQKQVQFNPGQTLATWRVRILSDGEHERSESFQIVLSEPVMAVLEFPSVSTVEIIDPGDESTVFIPQSTYTIEEDVGELFIPVRRSGDVSQELMVICYTQQGTATGTAPTSVLSYSDYISRPEDHNSVLRFDKDEREKTCRVVIIDDSLYEEAETFDVLLSMPMGGRIGTEFASTRITIVPDKDDEPAFYFGNDEYYVDESAGYVEVHVWRTGTDLSKAASVTVRSRKSESRTAEAGVDYVGISRNLDFAPGVSMQTFRVVILDDLGQPVLEGAEKFELVLRMPMNAALGEPSKATIFINDSVSDLPKMQFKEPVYVVNENDGQISAMIYRSGDIQYTSTVRCYTRQGSAQVMIDFEERPNTDSSIITFLPGETEKPCTLVLMDDTFHEEDEELRLVLGTPRSDSSFGASIGEQNETLIKIQDDADKAIIKFGETKFSVSEPKDTRQVAVVKIPVIRLGDTSKVSVVRVHTKDGSAISGEDYHPISEEIEFKEGETQHFVEIEVLFDGVREMREAFTVHLKPDENMVAEIQTAKAIVYIEEMNSMADVTFPSVPQVASLLIYDDTSRAKDRTSPVAGYPVICITACNPKYEDFDKTGSICASENINNTLTQYRWLVSAPTGPDGVTSPMKEVDFDTFFTSSKMITLDSIYFQAGSRVQCAARAVNSDGNEGLELMSPIVTISTSEGLCQPRVSGVVGAEPFSAKLRYTGPEDPAYANLIKLTVTMPHIDGMLPVISTRELSNFELTLSPDGTRVGNHKCSNLLDYTEVKTHHGFLTDATKNSDVIGETIPYQYSPAIRGFNTLRFYRNLNLEACLWEFVSYYDMSELLTDCGGTIGTDGQVLNLVQSYVTLRVPLYVSYVFHSPVGVGGWQHFDLQSELRLTFVYDTAILWKDGIGSPPEAELQGSLYPTSMRISEEGRLVVNFKTEARFHGLFVMSHPASSLTSMVMSADHPSLTFSLSLIRSEPTYNQPVQQWSFVSDFAVRDYSGTYMVKLIACTTAPHQEYSLPVICNPREPITFDLDIRFQQVSDPVAAEFSLNTQMFLLSKKTLWLSDGSMGFGQESDVAFSEGDVIYGRVMVDPVQNLGDSFYCSIEKVFLCTGADGYVPKYNPSNTEYGCLADSPSLLYRFKIVDKAQPETQATSFGDVLFNAKLAIDDPEAISLVKQPGSDGFKVDSTPLFQVSLGREWYVHTIYTVRSKENANRGIGKRSVEQQYHSLFSGGSPAGSTQRRHKRGVVGAPELARDIGVENNRGTNIQHIALDRTSRKQVPQREVAVSGVLPRELNSQSSGVSVVTIVGGAAAIFLAICLITIIILLLKRRQNSEKKEATKKSGSNEPMMLPNSYTSDSSEV", "length": 3168 }, "evidence": [ { "id": "Q5SZK8", "url": "https://omabrowser.org/oma/group/Q5SZK8/", "database": "OMA" } ], "glygen_name": "Chicken", "common_name": "Chicken" }, { "uniprot_canonical_ac": "A0ACD6B5C5-1", "protein_name": "FRAS1-related extracellular matrix protein 2a isoform X1", "gene_name": "frem2a", "tax_id": 7955, "organism": "Danio rerio", "sequence": { "sequence": "MELHRFLLLLLSLTGSSVSALETHGLSYASKPELSEDAILVANNGIHVPFGRSVYIDPINDLVIELQPGDRCTITVLDNDPLSQRPGHVSPKKFPCEFGPNDVRYSHFGSRSPAGDRVKLQLRYDTQTETIIIPFMLEVEVVFTQLEVVTKNMPLVVDKLHGTSNPINKKILDFTYEKDSEQCEVTSLAASSVLPKYGKVVDDRKLEKMMSCELFLKSNIRYEHTSSHKSPNKDYIPMVVELRNKENNLLKQEFFHVMIRIKEGEENTPPRPSFVAMMMMEVDQFVMTALTPDMLAAEDTESNTDDLIFNITSPLSIEEGYIVSTDDRNLPITSFYQKDLKDLKIAYKPPSLDSDTERIFQIEFEVIDPDGGISDPFAFMIVVKPMNTLAPIVTKNSGQLLYEGQSRSLFTQNNLEISDEDNLDSVRITVVDGLRHGVLTVLGSNRKYFTPADLEVGIVVYQHDGSDTYSDNIIFRMTDGKNEVEFLFPITIVPTDDEPPIINANTGLILFKNQMVPISQLMLSAADIDSEDSIIKFTIEPPFSAIGEVVLRQSEAPEDPSSWKFNADDGVYEKVVTEWLQKDITDEKLFYRHTGPHITETVTDQFVFKVKDDADPPNQSSENNFIIKILPIDDIPPVLFPGTTLQMTVHEYQLTHLSKNVLRYTDLDSEDRDLKYTITQAPTDMDENNPVKFGSIVLTDSPDTDVTEFTQAQINHHKISYSPPDLELGIIPHVVQFHFTVEDTAGNGADGVFTIFLQPVNNKPPQITNSGFTVLERGVHVITSAELDANDLDTDIKLISFTLSQTPLHGHLQDTFTDLKKGSYFNLMDISDGQVSYVHNGDETTSDSFKLDVSDGVHVVTITVKVTVKLIDDETPTLSLTKGTFGSRLDVLENGATEITPNVIQGKDEDTDDLQLTFIVEEAPKFGEILVNGVSSSRFTQADIISGLVVYAHTSGEIGLTSIEDFFSLTLSDMSDEWNVGGNRVHGVRVHVTILPVDNQTPLVTVGPTFNVFEADKNIIGSHQIKVEDADTPNEDILCTIIVQPTSGYVENISPAPGSEKSRAGTAVSAFTISDVNEGHIYYVQSIHKGVEPVEDRFTFRCSDGVNFSERQFFPIVIIPTNDEKPEIFMREVVVMEGMNVIIDTPLLNGVDADVPAQELMFIITKLPNHGFILNQLASGSVPVTNFTLEQIKEASSIIYEHDDSETTEDKFDVLLTDGKHSAEGTVMIMIIPVDDETPRLAINDGLEIEIGETKEINAKVLKATDLDSDDESLTFIIRYGPAQGLLYRKLAGSVEKRSAGSTENITVGMNFTQNEVNRGLILYTHNGQEGMRDLVKFDVTDGINPLIDRYFYITVGSIDMVFPDVISKGVSLKEGGKVTLTTNLLSTSDLNSPDENLVFTITRAPVRGHLESTDTPGMPIVSFTQLQLAGSKIYYIHTADDEVKMDSFEFEVTDGYNPVFRTFRVSIVDVDNKKPVLTIHDLLVTEGQTKLITPFELTVEDQDTAEHLLKFKVSQLPIHGKLLFNNSQPVTSFTKQDLNENMISYKHDGTESKKDSFSFTVTDGTHSDFFVFPDTIFETQRPQTMKINIVSVDNGVPQIEVNKGAPTLKVLFAGHLGYQITSKVLKAVDRDSNPEALIFHITTQPEHGYLISLDRGTENDSINTFTQADINDLKICYILKDENNATSDVFSFTVEDNGGNKLKNQPFHLNWSWISLEKPNYVVDEHDKVLEVTLRRRGFLGETSFVGIGTLDGSAEKEKDFLGKSQKQVQFNPGQTTASWKVRVLSDGKYEQSETFQIVLTEPVMGVLEAPAVATVEIVDPGDESMVFFPQAGFAVEEDIGELLVPVRRTGDVSQELMVVCHTQQDSATGTVPTSVLSYSDYISRPEEQVSILRFDKDETEKHCRVVIIDDSLYESEESFNVTLSMPIGGRLGPEYPTVNIRILPDQDDAPVFYFGSQEYHVDESDGHVEVRVWRTGTDLSKTATVTVRSRKTDPVSAEAGVDYVGISRNLDFAPGVSMQTVRVTVLDDLGQPVLEGTERFELVLRMPSNGILGEPAKVTVFINDSISDLPKVQFKQAVVTAEESEGHVTVMVHRSGDIKHKSSVRCYTRQGSAQVVYDFEERPNTDASIVTFLPGEVDKPCVLKLVDDSIHEEEEELRLVLGNAKSDSPYGASIGNQNETLIKIKDNADKSIIKFAETKFSVSEPKESGQVTLVKIPIRRTGDASKVSLVRVHTKDGSAISGEDYHPISLDVEFKAEEIEHVVEVEVLFDGIREMREAFTVHLKPDENMIAEIQMTKAIVYIEETNSMADVTFPSLPHIVSLLHYDNIRTSKQSAHPPAGYPVVCVTACNPKYPDYDKTGSICISERINNTLTRYRWLISAPSGPDGVTSPMREADFDTFFTSSKMITLDSIYFQAGSRVQCAARAVNSNGDEGLELSSPIVSISMEEGMCQPRKLGTVGAEPFSAKLRYTGAEDLQYANLIKLTVTMPHIDGMLPVVSTRALSNFDLTLSPDGTRVGNHRCSNLLDFNEVSTRHGFLTKATRNIQSVGETLPYQYSPVLRGQGTLRFYRNLNLEACLWEFVSYYDMSELLTDCGGTIGTDGQVLNLVQSYVTLRVPLHVSYVFHSPVGAGGWQHFDLHSELRLTFVYDTAILWKDGVGSQTQADLQGALYPTSMRINEQGRLVVNFRTEARFRGLFVVGHPANLRSLKTTASTVSTVMSADHPGLTFNLTLVRTEPTYSQPVQQWMFISDFAVRDYSGTYTVSLIPCTAALNVEFTVPPVCNPREAITFDLDIRFQQVSDPVAVEFSLNTQMFLLSKKVLWLSDGSMGFGQESDAAFSEGDVIYGRVMVDPVQNLGDSFYCNIEKVYLCTGADGYVPKYNPSKSEFGCLADSPSLLYRFKIIDKAQPETQARSFGNVDFNALLAVDDPSALSLVKQPGSDGFRLHSTPLFQVAVGREWFIHTIYTVRSKDNAKRGIGKRSVEQHLITSGDLKESRRRSRRSNRDVPTLAEQIGPENNRGTNIMHIALDRSRRTGSEEELFADGLSPRGLSGRQAEEEAVTVAGALVGLLLTVLVFVALALVVRSRRTPAKKAPRVSPSLQPVIVRSSLDNGDSSEV", "length": 3119 }, "evidence": [ { "id": "RGD:1566012", "url": "https://alliancegenome.org/gene/RGD:1566012#orthology", "database": "AGR" }, { "id": "MGI:2444465", "url": "https://alliancegenome.org/gene/MGI:2444465#orthology", "database": "AGR" }, { "id": "HGNC:25396", "url": "https://alliancegenome.org/gene/HGNC:25396#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-081119-3", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-081119-3#orthology", "database": "AGR" } ], "glygen_name": "Zebrafish", "common_name": "Zebrafish" }, { "uniprot_canonical_ac": "D3ZG74-1", "protein_name": "FRAS1-related extracellular matrix protein 2", "gene_name": "Frem2", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MAGPRGALGHPPGPALPLGGPRRRRAEFPALPIGLWRSLQRLALHTRRVNCRNSNACNLHATRTPGMATRGRWTAKYSNFQSILTQSPRLLLLLLSLVSRVSTQDAAPGAAFLSLGLSGTSGVPTEEAIVVANRGLRVPFGREVWLDPLRDLVLQVQPGDRCTVAVLDNDALAQRPGRLSPKRFACDYGPGEVRYSHLGARSPSRDRVRLQLRYDAPGGAIVLPLALEVEVVFTQLEVVTRNLPLVVEELLGTSNALDARSLEFAYQPETEECRVGILSGLSALPRYGELLHYPQVPGGTGERGSSETPLMDCKAFQELGVRYRHTALSHSPNRDWLPMVVEIHSRGAPVGSPALKREHFQVLVRIRGGAENTAPKPSFVAMMMMEVDQFVLTALTPDMLAAEDAESNPDLLIFNLTSAFQPGQGYLVSTDDRSLPLSSFTQRDLRLLKIAYQPPSEDSDQERLFELELEVVDPEGAASDPFAFMVVVKPMNTLAPVVTRNTGLILYEGQYRPLTGPVGSGPQNLVISDEDDLEAVRLEVVAGLRHGHLVILGSPSSDPAPKTFTVAELAAGQVVYQHDDRDGSLCDNLVLRMSDGGGRHQVQFLFPITLVPVDDQPPVLNANTGLTVAEGDTVPIPPSTLSATDMDSDDSQLLFVLEPPFSSSGRLLLRQTHAPQEEQGLWHKQGSFYERMVTEWRQQDITEGKLFYRHSGPHSPGPVMDQFLFRVQDNQDPPNQSGIQRFVIRIHPVDRLPPELGSGCPLRMVVQESQLTPLRKRWLHYTDLDTDDRELHYTVTQPPTDTDENHSPAPLGTLVFTDNPSVVVTHFTQAQVNHHKIAYRPPGQELGVAARVAQFQFQVEDRAGNVAPGTFTLYLQPVDNQPPEIVNTGFTVEEKGHHVLRETELHVSDVDTDVAHISFTLTQAPKHGHLQISGRPLHVGGQFRLEDIKQGRISYLNSGDESLTDSCSLEVSDRHHVVPITLRVNVRPADREGAMSVLPAGTLESYLDVLENGATEVTANIIKGTYRDTDDLMLTFLLEGPPLYGEILVHGAPAEQFTQRDILEGSVVYAHTSGEIGLLPKADSFNLSLSAMSQEWRIGSSVIQGVTVWVTILPVDSQAPEISVGEQFVVLEGDKSLISLTHLSAEDVDSLMDDLLCTIVIQPTSGYVENISPAPGSEKSRAGIAISAFTLKDLRQGHINYVQSVHRGVEPVEDRFIFRCSDGINFSERQIFPIVIIPTNDEQPEMFMREFMVMEGMSLVVDTPILNAADADIPRDDLTFTITRFPTHGHIMNQLINGTVLVESFTLDQIIESSSIIYEHDDSETQEDSFVIKLTDGKHSVEKMALIMVIPVDDETPRMAINNGLEIEIGETKVINNKVLAATDLDSDDKSLVYIIRYGPGHGLLQRRKPLGVFENITLGMNFTQDEVDRNLIQYVHFGQEGIRDLIKFDVTDGTNALIDRYFYVSIGSVDIVFPDVVSKGVSLKEGGKVTLTTDLLSTSDLNSPDENLVFTITRAPMRGHLECTDQRGLSITSFTQLQLAGNKIYYIHTAEDEVKMDSFEFQVTDGRNPVFRTFRISISDVDNKKPVVTIHNLVVSESESKLITPFELTVEDRDTPDRLLKFIVTQVPVHGHLLFNNTRSVMVFTKQDLNENLISYKHDGTESTEDSFSFTVTDGTHSDFYVFPDTVFETRRPQVMKIRVLPVDNRVPQIVVNKGASTLRTLPTGHLGFMITSKILKVQDRDSLHFSLRFIVTEAPQHGYLLNLGQGNHSVTQFTQADIDDMKICYVLRERANATSDVFHFIVEDDGGNRLTNQHFRLNWAWISFEKEYYLINEDSKFLDIVLKRRGYLGETSFISISTRDGTAEKDKDFKGKAQKQVQFNPGQTRASWRVRILSDGEHEHSETFQVVLSEPVLAVLEFPEVTTVEIIDPGDESTVFIPQSEYSVEEDVSELFIPIRRSGDISQELMVICYTQQGTATSTVRTSVLSYSDYISRPEDHSSVIRFDKDEREKMCRVVVIDDSLYEEEETFQVLLSMPMGGRIGNKFPGANVTILTDKDDEPAFYFGDTQHSVDESAGYVEVQVWRTGTDLTKPSSVTVRSRKTEPPSADAGTDYVGISRNLDFAPGVSMQTVRVVILDDLGRPVLEGIEKFELVLRMPMNAALGEPSKATVSINDSASDLPKMQFKERVYTCSENDGHVVAMIYRSGDLQHRSSVRCYTRQGSAQVMMDFEERPNTDISIVTFLPGESEKPCVLELMDDDLYEDVEELRLVLGTPQGSSAFGAAVGEQNETLIKIQDDADKAVIKFGETKFSVTEPSRPGESVVVKIPVIRQGDTSKVSIVRVHTKDGSATSGEDYHPVSEEIEFKEGETQHTVEIEVIFDGVREMREAFTVHLKPDENMVAETQTTKAIVYIEEINSMADVTFPSVPHIVSLMVYDDTFKGREDAGPVSGYPIICITACNPKYPDYDKTGSICASENINDTLTRYRWLTSAPTGPDGVASPMREVDFDTFFTSSKMITLDSIYFQPGSRVQCAARAVNTNGNEGLELMSPIVTIAREEGLCQPRVPGVVGAEPFSAKLRYTGPEDPDFANLIKLTVTMPHIDGMLPVISTRELSNFELTLSPDGTRVGNHKCSNLLDYSEVRTHHGFLTNATKNPEVIGETYPYQYSAPVRGSSTLRFYRNLNLEACLWEFVSYYDMSELLADCGGTIGTDGQVLNLVQSYVTLRVPLYVSYVFHSPVGVGGWQHFDLKSELRLTFVYDTAILWNHGIGSPPEAELQGSLYPTSMRIGEEGRLAVNFKTEAQFHGLFVLSHPASFTSSLIVSADHPGLTFSLRLIRSEPTYNQPVQQWSFISDFAVRDYSGTYTVKLVPCTTPSNQEYRLPVTCNPREPVTFDLDIRFQQVSDPVAAEFSLNTHMYLLSKKSLWLSDGSMGFGQESDVAFAEGDVIYGRVMVDPVQNLGDSFYCSIEKVFLCTGDDGYVPKYSPANAEYGCLADSPSLLHRFKIVDKAQPETQATSFGDVLFNAKLAVDDPEAALLVNQPGSDGFKVDSTPLFQVALGREWYIHTIYTVRSKGTSHRGIGKRSLEYQYHSVVQHGPPQATTKSWKKRAVRSTPSLAGEIGAENNRGTNIQHISLDRRGKRQVPHGRIPPDGILPWELNSPSSEMSLVTVLGGISVGLLAVCLAVAVAVMCRNRSIKGKDAPKGSGSTEPMMSPQSHYNDSSEV", "length": 3224 }, "evidence": [ { "id": "RGD:1566012", "url": "https://alliancegenome.org/gene/RGD:1566012#orthology", "database": "AGR" }, { "id": "MGI:2444465", "url": "https://alliancegenome.org/gene/MGI:2444465#orthology", "database": "AGR" }, { "id": "HGNC:25396", "url": "https://alliancegenome.org/gene/HGNC:25396#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-081119-3", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-081119-3#orthology", "database": "AGR" }, { "id": "Q5SZK8", "url": "https://omabrowser.org/oma/group/Q5SZK8/", "database": "OMA" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "F1MFH3-1", "protein_name": "FRAS1-related extracellular matrix protein 2", "gene_name": "FREM2", "tax_id": 9913, "organism": "Bos taurus", "sequence": { "sequence": "MQATGTPGVTARTRPAGNPTKSPPTPPTPSGLVLLLLLSLVSRVRAQPPDPGRALLSPDLAGVAGVPAEEAIVLANRGLRVPFGREVWLDPLQDLVLQVQPGDRCAVTVLDNDALAQRPGRLSPKRFPCDFGAGEVRYSHLGARSPSRDRVRLQLRYDAPGGAAVLPLVLEVEVVFTQLEVVTRNLPLVVEELLGTSNALDARSLEFAYQPETQECRVGILPGLGALPRYGELLHYPQVPGSASEGDSQEPLLMDCTAFQELGVRYRHTAPSRSPNRDWVPMVVELRSRGSPVGSPALKREHFQVLVRIRGGAENTAPKPSFVAMMMMEVDQFVLTALTPDMLAAEDAECAPDLLIFNLTSPFQPGQGFLVSTDDRSLPLSSFTQRDLHLLKIAYQPPSEDSDQERLFELELEVVDPEGAASDPFSFMVVVKPMNTLAPVVTRNTGLILYEGQSRPLTGPAGSGPQNLVISDEDDLEAVQLEVVAGLRHGHLVLLGASNGNSAPKTFTVAELAAGRVVYHHDDKDGSLSDNLVLLMVDGGRRHQVQFLFPITLVPVDDQPPVLNANTGLTLAEGETVPILPQALSAIDMDSEDSLLLFVLESPSSTAGHLLLRQTHPPQGEEMLLGSPWRKQGIFYEKTVTQWRQRDITEGRLFYRHSGPHSPGPVIDQFTFRVQDNHDPPNKSGLQRFMIRIHPVDRLPPELGSGCPLRMVVQESQLTPLRKKWLRYTDLDTDDRELRYTVTQPPMDTDENHSPAPLGTLVLTDDPSVVVAHFTQAQVNHHKIAYRPPDQELGVAARVAQFQFQVEDRAGNVAPGTFTFYLQPVDNQPPEILNTGFTVQEKGHHILSETELGVNDVDTDVAHITFTLIQVPKHGHMKLSGQVLHVGGIFHLEDIKQGRISYAHNGAESLTDSCSLEVSDRHHVVPITLRVNVRPMDGELPMLSLPAGTLGSYLDVLENRATEITANVIRGTNGDADDLMLTFLLEDPPLYGEILVNGVPAEQFTQRDILEGSVVYTHTSGEIGLLPKEDSFNLSLSDMSQEWRIGGNTIQGVTMWVTILPVDSQAPEISVGEQFIVLEGDKSAITSMHISAEDMDSLNDDILCTIVIQPTSGYVENISPAPGSEKSRAGIAVSAFTLKDLRQGHINYVQSVHKGVEPVEDRFIFRCSDGINFSERHFFPIVIIPTNDEQPEIFIREFLVMEGMSLVVDTPILNAADADVPPDDLTFTITKFPTHGHIMNQLINGTVLVESFTLDQIIESSSIIYEHDDSETQEDSFVIQLTDGKHSVEKTVLIMVIPVDDETPRMAINNGLEIEIGETKIINNRILMATDLDSEDKFLVYIIRYGPGHGLLQRQTPTGVFENITLGMNFTQDEVDSNLIQYVHFGQEGIRDLIKFDVTDGINALIDRYFYVSIGSPDIVFPDVISKGVSLKEGGKVTLTTDLLSTSDLNSPDENLVFTITRAPMRGHLESTDQPRVSITSFTQLQLAGNKIYYIHTADDEVKMDSFEFQVTDGRNPVFRTFRISISDVDNKKPVVTIHNLVVSEGEKKLITPFELTVEDRDTPDKLLKFTVTQVPVHGQLLFNNTRPAMIFTKQDLNENLISYRHDGTESSEDSFSFTVTDGSHTDFYVFPDTVFETRRPQVMKIRILAVDNRVPQIVVNKGASTLRTLATGHLGFMITSKVLKAEDRDSLHVSLRFIVTEAPRHGYLLNLGQGNHSVTEFTQADIDDMKICYVLREGANAVSDIFQFTVEDGGGNKLTKQHFRLNWAWISFEKEYYLINEDSKFLDVMLKRRGYLGETSFISIGTRDGTAKKDKDFKGKAQRQVQFNPGQTRATWRVRILSDGAHEQSETFQVVLAEPVLAALEFPAVTTVEIVDPGDESTVFIPQSEYSIEEDVGELFIPIRRSGDVSQELMVVCYTRQGTARGTVPTSVLSYSDYISRPEDHTSVIRFDKDEREKMCRVVIIDDSLFEEEETFHVLLSMPMGGRIGSEFPGAQVTIKPDKDDEPVFYFGDVEYKVDESAGSVEVRVWRSGTDLSQASSVTVTSQKTDPPSADAGTDYVGISRNLDFAPGVNMQTIRVIILDDLGQPMLEGIEQFELVLRMPMNAALGDPSKATVTINDSVSDLPKMQFKERVYTGNENDGQIVATIHRSGDTRYRSSVRCYTRQGSAQVMMDFEERPNTDISIITFLPGEIEKPCILELMDDVLYEEVEELRLVLGTPQSNSPFGAAVGEQNETLIRIRDDADKTIIKFGETKFSVSEPKEPGQSVVIKIPVIRQGDTSKVSIVRVHTKDGSATSGEDYHPVSEEIEFKEGETQHIVEIEVIFDGVREMREAFTVHLKPDENMIAETQATKAIVYIEEMNSMADVTFPSVPQVVSLLTYDDSSRAKESAGPVSGYPVVCITACNPKYPDYEKTGSICASENINDTSTRYRWLISAPAGPDGVTSPMREVDFDTFFTSSKMITLDSIYFQPGSRVQCAARAVNADGSEGLELMSPIVTIGREEGLCQPRVPGIVGAEPFSAKLRYTGPEDSEYTNLIKLTVTMPHTDGMLPVISTKELSNFELTLSPDGTRVGNHKCSNLLDYTEVKTHHGFLTDATKNPEIIGETYPYQYSSSIRGSNTLRFYRNLNLEACLWEFVSYYDMSELLTDCGGTIGTDGQVLNLVQSYVTLRVPLYVSYVFHSPAGVGGWQHFDLKSELRLTFVYDTAILWTDGIGSPPEAELQGSLYPTSMRIGEEGRLVVNFKTEAQFHGLFVLSHPASFTSSMIMSVDHPGLTFSLRLIRSEPTYNQPVQQWSFVSDFAVRDYSGTYTVKLLPCTTPSHQEFRLPVTCNPREPITFDLDIRFQQVSDPVAAEFSLNTQMYLLSKKSLWLSDGSMGFGQESDVAFAEGDIIYGRVMVDPVQNLGDSFYCSIEKVFLCTGADGYVPKYNPTNAEYGCLADSPSLLYRFKIVDKAQPETQATSFGNVLFNAKLAVDDPEAILLVNQPGSDGFKVDSTPLFQVALGREWYVHTIYTVRSKDSANRGIGKRSVEYRYHSLVGQGKPQAATKSRKKREIRSSPPLAWEIGAENNRGTNIQHVALDRSSRKQILHGRVSPDGVLPRELNSPSSEVSLLTVVGGVVVGLLAVILTAVTVRMHQGRKGARRKDAPKDPGSREPMMPSVSHHSDSSEV", "length": 3172 }, "evidence": [ { "id": "Q5SZK8", "url": "https://omabrowser.org/oma/group/Q5SZK8/", "database": "OMA" } ], "glygen_name": "Bovine", "common_name": "Bovine" }, { "uniprot_canonical_ac": "F1RS31-1", "protein_name": "FRAS1-related extracellular matrix protein 2", "gene_name": "FREM2", "tax_id": 9823, "organism": "Sus scrofa", "sequence": { "sequence": "MHAAPTPGITACGRHAANPTNFQPMLPPPPGLVLLLLLLLSPVSSVRAQPAAPGRALLSPNLAGVAGVPAKEAVVLANRGLRVPFGREVWLDPLQDLVLQVQPGDRCSVTVLDNDALAQRPGRLSPKRFPCDFGAGEVRYSHLGARSPSRDRVRLQLRYDAPGGAAVLPLVLEVEVVFTQLEIVTRNLPLVVEELLGTSNALDARSLEFAYQPQTEECRVGILSGLGALPRYGELLHYPQVPGHASDRGTQEPLLMDCRAFQELGVRYRHTAPSRSPNRDWVPMVVELRSRASPVGSPALKREHFQVLVRIRGGTENTAPKPSFVAMMMMEVDQFVLTALTPDMLAAEDAESPPDLLIFNLTSPFQPGQGYLVSTDDRSLPLSSFTQRDLHLLKIAYQPPFEDSDRERLFELELEVVDPEGAASDPFAFMVVVKPMNTLAPVVTRNTGLILYEGQSRPLTGPAGSGPDNLVISDEDDLEAVQLEVVAGLRHGHLVLPGASSGNSAPKTFTVAELAAGQVVYHHDDKDGSLSDNLVLRMVDGGRRHQVQFLFPITLVPVDDQPPVLNANTGLTLAEGETVPILPQALSATDMDSDDALLLFVLEPPSSTSGHLLLRQTHPPQEEEGLIRGPWRNQGTFYEKMVTEWRQRDITEGRLFYRHSGPHSPGPVMEQFTFRVQDNHDPPNQSGPQRFVIRIHPVDRLPPEVGSGCPLRMVVQESQLTPLRKKWLRYTDLDTDDRELRYTVTQPPMDTDENHSPAPLGTLVLTDNPSVVVAHFTQAQVNHHKIAYRPPDQELGVAARVAQFQFQVEDQAGNVAPGTFTLYLQPVDNQPPEILNTGFTIQEKGHHILSETELSVKDVDTDVAHITFTLTQAPRHGHVKVSGQILRVGEIFHLEDIKQGRISYIHNGAETLTDSCSLEVSDRHHVVPITLRVSVRPVDDEVPMLSLPDGTLGSYLDVLENGATEITANVIKGTDEDTDDLMLTFLLEDPPLYGEILVNGVPAEQFTQRDILEGSVVYAHTSGEMGLLPKEDSFNLSLSDMSQEWRIGGNAIRGVTVWVTILPVDNQAPEVSVGERFIVMEGDKSVITSMHISVEDTDSLNDDILCTIVIQPTSGYLENISPSPGSEKSRAGIAISAFTLKDLRQGHINYVQSVHKGVEPVEDRFIFRCSDGINFSERHFFPIVIIPTNDEQPEIFMREFIVMEGMSLVIDTPILNAADADIPPDDLTFTITKFPTHGHIMRQLINGTILVESFTLDQIIESSSIIYEHDDSETQEDSFVIRLTDGKHSVEKVVLIMVIPVDDETPRMAINNGLEIEIGETKVINNKILMATDLDSEDKSLVYVIRYGPRHGLLQIQKSSGVFENITLGMNFTQDELDRNLIRYIHFGQEGIRDLIKFDVTDGINALIDRYFYVSVGSLDIVFPDVISKGVSLKEGGKVTLTTDLLSTSDLNSPDENLVFTITRAPMRGHLECSDQPGVSIMSFTQLQLAGNKISYIHTADDEVKMDSFEFQVTDGRNPVFRTFRISISDVDNKKPVVTIQHLVVSEGENKLITPFELTVEDRDTPDKLLKFTLTQVPIHGQLLFNNTRPTMIFTKQDLNENLISYRHDGTETREDSFSFTVTDGSHTEFYVFPDTVFETRRPQVMKIQILAVDNSVPQIAVNKGASTLRSLATGHLGFMITSKVLKVEDRDSPQFSLRFIVTEAPRHGYLLNLGEGNHSVTQFTQADIDDLKICYVLREGANATSDVFHFTVEDSGGNKLTKQHFRLNWAWISFEKEYYLINEDSKFLDVVLKRRGYLGETSFISIGTRDGTAKKDKDFKGKAQKQVQFNPGQTRATWRVRIMSDGEHEQSETFQVVLSEPVLAALEFPEVTTVEIVDPGDESTVFIPQAEYSIEEDIGELFLPIRRSGDVSRELMVICYTQQGTARGTVPTSVLSYSDYISRPEDHTSVIRFDKDEREKMCRVVIIDDSLYEEEETFRVVLSMPMGGRLGSEFPGAQVTIIPDKDDEPVFYFGDVAYSVDESAGYVELLVWRTGTDLSKASSVTVRSRKTDPPSAEAGTDYVGISRNLDFAPGVNMQPVRVIILDDLGQPVLEGVEKFELVLRMPMNAALGDPSKATVSINDSGSDLPKMQFKERVYTGNENDGQVVAVIHRSGDIQFRSSVRCYTRQGSAQVMMDFEERPNTDLSVITFLPGETEKPCILELMDDAVHEEVEELRLVLGTPQSNSPFGAAVGEQNETLIRIRDDADKTIIKFGETKFSVREPQAPGQSAVVKIPVIRQGDTSKVSTVRVHTKDGSATSGEDYHPVSEEIEFKVGETQHIVEIEVIFDGVREMREAFTVHLKPDENMIAETQVTKAIVYIEEMNSMADVTFPSVPQIVSLLMYDDTSKAKESAGPVSGYPVVCITACNPKYSDYDKTGSICASENINDTLTRYRWLISAPTSPDGVTSPMREVDFDTFFTSSKMITLDAIYFQPGSRVQCAARAVNADGSEGLELMSPIVTIGREEGLCQPRVPGIVGAEPFSAKLRYTGPEDPEYANLLKLTVTMPHTDGMLPVISTKELSNFELTLSPDGTRAGNHKCSNLLDYTEVKTHHGFLTDATKNPDVIGETYPYQYSSSIRGSRTLRFYRNLNLEACLWEFVSYYDMSELLTDCGGTIGTDGQVLNLVQSYVTLRVPLYVSYVFHSPVGVGGWQHFDLQSELRLTFVYDTAILWNEGVGSPPEAELHGSLYPTSMRIGEEGRLVVNFKTEAQFHGLFVLSHPASFTSSMIMSADHPGLTFSLRLIRSEPTYNQPVQQWSFVSDFAVRDYSGTYTVKLLPCTTPSHQEYRLPVTCNPREPVTFDLDIRFQQVSDPVAAEFSLNTQMYLLSKKSLWLSDGSMGFGQESDVAFAEGDVIYGRVMVDPVQNLGDSFYCSIEKVFLCTGADGYVPKYSPANAEYGCLADSPSLLYRFKIVDKAQPETQATSFGNVLFNAKLAVDDPEAILLVNQPGSDGFKVDSTPLFQVALGREWYIHTIYTVRSKDNAKRGIGRRSVEYEYHSLVSSGEPQAMAGSRRKREVRSPPALAREIGAENNRGTNIQHVALDRSSRRRSPQGRAPPHGLPPRELSSPSSEVSLVAVMGGGAVGLLAVGLMALAVVLFKGKKSARRKGAPQGSGSSEPMMPRPGLQSDSSEV", "length": 3174 }, "evidence": [ { "id": "Q5SZK8", "url": "https://omabrowser.org/oma/group/Q5SZK8/", "database": "OMA" } ], "glygen_name": "Pig", "common_name": "Pig" }, { "uniprot_canonical_ac": "Q6NVD0-1", "protein_name": "FRAS1-related extracellular matrix protein 2", "gene_name": "Frem2", "tax_id": 10090, "organism": "Mus musculus", "sequence": { "sequence": "MASRARRTAKFSSFQPILAQSPRLLLLLLLLSLVSYVSTQAAGPGAALQSLGLSGTSGVPTEEAIVVANRGLRVPFGREVWLDPLRDLVLQVQPGDRCTVTVLDNDALAQRPGHLSPKRFACDYGPGEVRYSHLGARSPSRDRVRLQLRYDAPGGAIVLPLALEVEVVFTQLEIVTRNLPLVVEELLGTSNALDDRSLEFAYQPETEECRVGILSGLSALPRYGELLHYPQVQGGAGDRGTSKTLLMDCKAFQELGVRYRHTAPSRSPNRDWLPMVVELHSRGAPEGSPALKREHFQVLVRIRGGAENTAPKPSFVAMMMMEVDQFVLTALTPDMLAAEDAESDPDLLIFNLTSAFQPGQGYLVSTDDRSLPLSSFTQRDLRLLKIAYQPPSEDSDQERLFELELEIVDPEGAASDPFAFMVVVKPMNTLAPVVTRNTGLILYEGQYRPLTGPIGSGPQNLVISDEDDLEAVRLEVVAGLRHGHLVILGSPSSDSAPKTFTVAELAAGQVVYQHDDKDGSLSDNLVLRMSDGGGRHQVQFLFPITLVPVDDQPPVLNANTGLTVAEGETVPIPPLTLSATDIDSDDSQLVFVLLPPFSSLGHLLLRQRHVPQEEQGLWQKQGSFYERTVTEWRQQDITEGKLFYRHSGPHSPGPVMDQFMFRVQDNHDPPNQSGIQRFVIRIHPVDRLPPELGSGCPLRMVVQESQLTPLRKRWLHYTDLDTDDRELQYTVTQPPTDTDENHSPAPLGTLVFTDNPSVVVSHFTQAQVNHHKIAYRPPGQELGVAARVAQFQFQVEDRAGNVAPGTFTLYLQPVDNQPPEIVNTGFTVEEKGHHILRETELHVSDVDTDVTHISFTLTQAPKHGHMQISGRPLHVGGQFHLEDIKHGRISYWNSGDESLTDSCSLEVSDRHHVVPITLRVNVRPGDREGPMSVLPAGTLESYLDVLENGATEVTANIIKGAYQGTDDLMLTFLLEGPPSYGEILVNGAPAEQFTQRDILEGSVVYAHTSGEIGLLPKADSFNLSLSAMSQEWRIGSSIVQGVTVWVTILPVDSQAPEISLGEQFVVLEGDKSVISLTHLSAEDMDSLKDDLLCTIVIQPTSGYVENISPAPGSEKSRAGVAISAFTLKDLRQGHINYVQSVHRGVEPVEDRFIFRCSDGINFSERQIFPIVIIPTNDEQPEMFMREFMVMEGMSLVVNRLILNAADADIPRDDLTFTITRFPTHGHVMNQLINGTVLVESFTLDQIIESSSIIYEHDDSETQEDSFVIKLTDGKHSVEKMVLIVVIPVDDETPRMTINNGLEIEIGETKVINNKVLMATDLDSDDKSLVYIIRYGPGHGLLQRQKPLGAFENITLGMNFTQDEVDRNLIQYVHFGQEGIRDLIKFDVTDGTNALIDRYFYVTIGSVDIVFPDVVSKGVSLKEGGKVTLTTDLLSTSDLNSPDENLVFTITRAPMRGHLECTDRRGLSITSFTQLQLAGNKIYYIHTAEDEVKMDSFEFQVTDGRNPVFRTFRISISDVDNKKPVVTIHNLVVSESESKLITPFELTVEDRDTPDRLLKFIVTQVPVHGHLLFNNTRSVMVFTKQDLNENLISYKHDGTESTEDSFSFTVTDGTHSDFYVFPDTVFETRRPQVMKIQVLPVDNSVPQIVVNKGASTLRTLATGHLGFMITSKILKVEDRDSLHFSLRFIVTEAPQHGYLLNLGQGNHSVTQFTQADIDDMKICYVLRERANATSDMFHFIVEDDGGNRLTNQHFRLNWAWISFEKEYYLINEDSKFLDIVLTRRGYLGETSFISIGTRDGTAEKDRDFKGKAQKQVQFNPGQTRASWRVRILSDGEHEHSETFQVVLSEPVLAILEFPTVTTVEIIDPGDESTVFIPQSEYSVEEDVGELFIPIRRSGDISRELMVICYTQQGTATSTVRTSVLSYSDYISRPEDHSSVIRFDKDEREKMCRILVIDDSLYEEEETFQVLLSMPMGGRIGDKFPGANVTILTDRDDEPAFYFGDTQYSVDESAGYVELQVWRTGTDLSKPSSVTVRSRKTESLSADAGTDYVGISRNLDFAPGVNMQTVRVVILDDLGRPILEGIEKFELVLRMPMNAALGEPSKATVSINDSASDLPKMQFKERVYTCNENDGRVVAMIYRSGDIQHRSSVRCYTRQGSAQVMMDFEERPNTDVSTVTFLPGEMEKPCVLELMDDAVYEDVEELRLVLGTPQGSSAFGAAVGEQNETLIKIQDEADKAVIKFGETKFSVTEPSRPGESVVVKIPVIRQGDTSKVSIVRVHTKDGSATSGEDYHPVSEEIEFKEGETQHTVEIEVIFDGVREMREAFTVHLKPDENMVAETQATKAIVYIEEIHSMADVTFPSVPHIVSLLIYDDPSKGREDTGPVSGYPVVCITACNPKYPDYEKTGSICASENINDTLTRYRWLISAPAGPDGVTSPMREVDFDTFFTSSKMITLDSIYFQPGSRVQCAARAVNTNGNEGLELMSPIVTIGREEGLCQPRVPGVVGAEPFSAKLRYTGPEDPDFANLIKLTVTMPHIDGMLPAISTRELSNFELTLSPDGTRVGNHKCSNLLDYNEVKTHHGFLTNATKNPEVIGETYPYQYSVPVRGSSTLRFYRNLNLEACLWEFVSYYDMTELLADCGGTIGTDGQVLNLVQSYVTLRVPLYVSYVFHSPVGVGGWQHFDLKSELRLTFVYDTAILWNHGIGSPPEAELQGSLYPTSMRIGEEGRLAVNFKTEAQFHGLFVLSHPASFTSSLIVSADHPGLTFSLRLIRSEPTYNQPVQQWSFVSDFAVRDYSGTYTVKLVPCTTPSNQEYRLPVTCNPREPVTFDLDIRFQQVSDPVATEFSLNTHMYLLSKKNLWLSDGSMGFGQESDVAFAEGDVIYGRVMVDPVQNLGDSFYCSIEKVFLCTGDDGYVPKYSPANAEYGCLADSPSLLHRFKIVDKAQPETQATSFGDVLFNAKLAVDDPEAVLLVNQPGSDGFKVDSTPLFQVALGREWYIHTIYTVKSKDNTHRGIGKRSLEYQYHSVVHPGPPQATTKSWKKRAVRSTPSLAGEIGAENNRGTNIQHISLNRRGKRQVPHGRIPPDGILPWELNSPSSEVSLVTVLGGLTVGLLTVCLAVAAAVMCRNRSTKGKDTPKGSGSTEPMMSPQSHYNDSSEV", "length": 3160 }, "evidence": [ { "id": "RGD:1566012", "url": "https://alliancegenome.org/gene/RGD:1566012#orthology", "database": "AGR" }, { "id": "MGI:2444465", "url": "https://alliancegenome.org/gene/MGI:2444465#orthology", "database": "AGR" }, { "id": "HGNC:25396", "url": "https://alliancegenome.org/gene/HGNC:25396#orthology", "database": "AGR" }, { "id": "ZFIN:ZDB-GENE-081119-3", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-081119-3#orthology", "database": "AGR" }, { "id": "Q5SZK8", "url": "https://omabrowser.org/oma/group/Q5SZK8/", "database": "OMA" } ], "glygen_name": "Mouse", "common_name": "Mouse" } ], "go_annotation": { "categories": [ { "name": "Cellular Component", "total": 4, "go_terms": [ { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8" } ], "pmid": "" }, { "name": "extracellular matrix", "id": "GO:0031012", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031012", "evidence": [ { "database": "UniProtKB", "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8" } ], "pmid": "" }, { "name": "extracellular exosome", "id": "GO:0070062", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0070062", "evidence": [ { "database": "UniProtKB", "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 5, "go_terms": [ { "name": "cell adhesion", "id": "GO:0007155", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007155", "evidence": [ { "database": "UniProtKB", "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8" } ], "pmid": "" }, { "name": "cell-matrix adhesion", "id": "GO:0007160", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007160", "evidence": [ { "database": "UniProtKB", "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8" } ], "pmid": "" }, { "name": "cell communication", "id": "GO:0007154", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007154", "evidence": [ { "database": "UniProtKB", "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8" } ], "pmid": "" }, { "name": "epithelial structure maintenance", "id": "GO:0010669", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0010669", "evidence": [ { "database": "UniProtKB", "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8" } ], "pmid": "" }, { "name": "eye development", "id": "GO:0001654", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001654", "evidence": [ { "database": "UniProtKB", "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 1, "go_terms": [ { "name": "metal ion binding", "id": "GO:0046872", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0046872", "evidence": [ { "database": "UniProtKB", "id": "Q5SZK8", "url": "https://www.uniprot.org/uniprotkb/Q5SZK8" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1033, "end_pos": 1035, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1117, "end_pos": 1119, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1172, "end_pos": 1174, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1244, "end_pos": 1246, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1363, "end_pos": 1365, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1369, "end_pos": 1371, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1584, "end_pos": 1586, "annotation": "n_glycosylation_sequon" }, { "start_pos": 16, "end_pos": 18, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1716, "end_pos": 1718, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1741, 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