{ "uniprot_canonical_ac": "A0A0G2K2R5-1", "ptm_annotation": [], "sequence": { "header": "tr|A0A0G2K2R5-1|A0A0G2K2R5_RAT Isoform 1 of EGF-containing fibulin extracellular matrix protein 2 OS=Rattus norvegicus OX=10116 GN=Efemp2 PE=1 SV=1 CANONICAL=A0A0G2K2R5-1", "length": 443, "sequence": "MLPFASCLPGSLLLWAFLLLLLGAASPQDSEEPDSYTECTDGYEWDADSQHCRDVNECLTIPEACKGEMKCINHYGGYLCLPRSAAVISDLHSEGPPPPAASAQHPNPCPPGYEPDEQESCVDVDECTQAIHDCRPSQDCHNLPGSYQCTCPDGYRKIGPECVDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCNQGYELHRDGFSCSDIDECSYSSYLCQYRCVNEPGRFSCHCPQGYQLLATRLCQDIDECETGAHQCSEAQTCVNFHGGYRCVDTNRCVEPYVQVSDNRCLCPASNPLCREQPSSIVHRYMSITSERSVPADVFQIQATSVYPGAYNAFQIRAGNTQGDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTMNSLMSYRASSVLRLTVFVGAYTF" }, "uniprot_id": "A0A0G2K2R5_RAT", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Rat", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K2R5", "id": "A0A0G2K2R5", "database": "UniProtKB" } ], "name": "Rattus norvegicus", "taxid": 10116 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/19855011", "type": [ "PubMed" ], "id": "19855011" } ], "title": "Fibulin-4 conducts proper elastogenesis via interaction with cross-linking enzyme lysyl oxidase.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264270.1", "id": "NP_001264270.1", "database": "RefSeq" } ], "authors": "Horiguchi M, Inoue T, Ohbayashi T, Hirai M, Noda K, Marmorstein LY, Yabe D, Takagi K, Akama TO, Kita T, Kimura T, Nakamura T", "date": "2009" } ], "uniprot_ac": "A0A0G2K2R5", "site_annotation": [ { "end_pos": 200, "annotation": "n_glycosylation_sequon", "start_pos": 198 }, { "end_pos": 396, "annotation": "n_glycosylation_sequon", "start_pos": 394 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K2R5#A0A0G2K2R5-1", "isoform_ac": "A0A0G2K2R5-1", "locus": { "end_pos": 220854796, "strand": "-", "start_pos": 220861280, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000080520", "id": "ENSRNOT00000080520", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000072344", "id": "ENSRNOP00000072344", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0G2K2R5-1|A0A0G2K2R5_RAT Isoform 1 of EGF-containing fibulin extracellular matrix protein 2 OS=Rattus norvegicus OX=10116 GN=Efemp2 PE=1 SV=1 CANONICAL=A0A0G2K2R5-1", "length": 443, "sequence": "MLPFASCLPGSLLLWAFLLLLLGAASPQDSEEPDSYTECTDGYEWDADSQHCRDVNECLTIPEACKGEMKCINHYGGYLCLPRSAAVISDLHSEGPPPPAASAQHPNPCPPGYEPDEQESCVDVDECTQAIHDCRPSQDCHNLPGSYQCTCPDGYRKIGPECVDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCNQGYELHRDGFSCSDIDECSYSSYLCQYRCVNEPGRFSCHCPQGYQLLATRLCQDIDECETGAHQCSEAQTCVNFHGGYRCVDTNRCVEPYVQVSDNRCLCPASNPLCREQPSSIVHRYMSITSERSVPADVFQIQATSVYPGAYNAFQIRAGNTQGDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTMNSLMSYRASSVLRLTVFVGAYTF" } }, { "url": "https://www.uniprot.org/uniprot/A0A0G2K2R5#A0A0G2KAI7-1", "isoform_ac": "A0A0G2KAI7-1", "locus": { "end_pos": 220854796, "strand": "-", "start_pos": 220861280, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000078619", "id": "ENSRNOT00000078619", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000075411", "id": "ENSRNOP00000075411", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0G2KAI7-1|A0A0G2K2R5_RAT Computationally mapped isoform of EGF-containing fibulin extracellular matrix protein 2 OS=Rattus norvegicus OX=10116 GN=Efemp2 PE=1 SV=1 CANONICAL=A0A0G2K2R5-1", "length": 333, "sequence": "MLPFASCLPGSLLLWAFLLLLLGAASPQDSEEPDSYTECTDGYEWDADSQHCRDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCNQGYELHRDGFSCSDIDECSYSSYLCQYRCVNEPGRFSCHCPQGYQLLATRLCQDIDECETGAHQCSEAQTCVNFHGGYRCVDTNRCVEPYVQVSDNRCLCPASNPLCREQPSSIVHRYMSITSERSVPADVFQIQATSVYPGAYNAFQIRAGNTQGDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTMNSLMSYRASSVLRLTVFVGAYTF" } }, { "url": "https://www.uniprot.org/uniprot/A0A0G2K2R5#Q5XI84-1", "isoform_ac": "Q5XI84-1", "locus": { "end_pos": 220854796, "strand": "-", "start_pos": 220861280, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000052315", "id": "ENSRNOT00000052315", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000040335", "id": "ENSRNOP00000040335", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|Q5XI84-1|A0A0G2K2R5_RAT Computationally mapped isoform of EGF-containing fibulin extracellular matrix protein 2 OS=Rattus norvegicus OX=10116 GN=Efemp2 PE=1 SV=1 CANONICAL=A0A0G2K2R5-1", "length": 402, "sequence": "MLPFASCLPGSLLLWAFLLLLLGAASPQDSEEPDSYTECTDGYEWDADSQHCRDVNECLTIPEACKGEMKCINHYGGYLCLPRSAAVISDLHSEGPPPPAASAQHPNPCPPGYEPDEQESCVDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCNQGYELHRDGFSCSDIDECSYSSYLCQYRCVNEPGRFSCHCPQGYQLLATRLCQDIDECETGAHQCSEAQTCVNFHGGYRCVDTNRCVEPYVQVSDNRCLCPASNPLCREQPSSIVHRYMSITSERSVPADVFQIQATSVYPGAYNAFQIRAGNTQGDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTMNSLMSYRASSVLRLTVFVGAYTF" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2129379", "resource": "Reactome", "id": "R-RNO-2129379", "name": "Molecules associated with elastic fibres" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "O95967-1", "protein_name": "EGF-containing fibulin-like extracellular matrix protein 2", "sequence": { "length": 443, "sequence": "MLPCASCLPGSLLLWALLLLLLGSASPQDSEEPDSYTECTDGYEWDPDSQHCRDVNECLTIPEACKGEMKCINHYGGYLCLPRSAAVINDLHGEGPPPPVPPAQHPNPCPPGYEPDDQDSCVDVDECAQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGPECVDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCHQGYELHRDGFSCSDIDECSYSSYLCQYRCINEPGRFSCHCPQGYQLLATRLCQDIDECESGAHQCSEAQTCVNFHGGYRCVDTNRCVEPYIQVSENRCLCPASNPLCREQPSSIVHRYMTITSERSVPADVFQIQATSVYPGAYNAFQIRAGNSQGDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTMNSLMSYRASSVLRLTVFVGAYTF" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/32339", "id": "32339", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A0A0G2K2R5/", "id": "A0A0G2K2R5", "database": "OMA" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "EFEMP2", "tax_id": 9606 }, { "uniprot_canonical_ac": "Q9WVJ9-1", "protein_name": "EGF-containing fibulin-like extracellular matrix protein 2", "sequence": { "length": 443, "sequence": "MLPFASCLPGSLLLWAFLLLLLGAASPQDPEEPDSYTECTDGYEWDADSQHCRDVNECLTIPEACKGEMKCINHYGGYLCLPRSAAVISDLHGEGPPPPAAHAQQPNPCPQGYEPDEQESCVDVDECTQALHDCRPSQDCHNLPGSYQCTCPDGYRKIGPECVDIDECRYRYCQHRCVNLPGSFRCQCEPGFQLGPNNRSCVDVNECDMGAPCEQRCFNSYGTFLCRCNQGYELHRDGFSCSDIDECGYSSYLCQYRCVNEPGRFSCHCPQGYQLLATRLCQDIDECETGAHQCSEAQTCVNFHGGYRCVDTNRCVEPYVQVSDNRCLCPASNPLCREQPSSIVHRYMSITSERSVPADVFQIQATSVYPGAYNAFQIRSGNTQGDFYIRQINNVSAMLVLARPVTGPREYVLDLEMVTMNSLMSYRASSVLRLTVFVGAYTF" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/32339", "id": "32339", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A0A0G2K2R5/", "id": "A0A0G2K2R5", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Efemp2", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264270.1", "ac": "NP_001264270.1", "name": "EGF-containing fibulin-like extracellular matrix protein 2 isoform 1 precursor", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005509", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K2R5", "id": "A0A0G2K2R5", "database": "UniProtKB" } ], "name": "calcium ion binding", "id": "GO:0005509" } ], "total": 1, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005615", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K2R5", "id": "A0A0G2K2R5", "database": "UniProtKB" } ], "name": "extracellular space", "id": "GO:0005615" } ], "total": 1, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060840", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K2R5", "id": "A0A0G2K2R5", "database": "UniProtKB" } ], "name": "artery development", "id": "GO:0060840" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048251", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K2R5", "id": "A0A0G2K2R5", "database": "UniProtKB" } ], "name": "elastic fiber assembly", "id": "GO:0048251" } ], "total": 2, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2K2R5", "type": "synonym", "resource": "RefSeq", "name": "Efemp2" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2K2R5", "type": "recommended", "resource": "UniProtKB", "name": "Efemp2" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000020587", "id": "ENSRNOG00000020587", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/293677", "id": "293677", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000152", "id": "IPR000152", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742", "id": "IPR000742", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001881", "id": "IPR001881", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR009030", "id": "IPR009030", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR018097", "id": "IPR018097", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR026823", "id": "IPR026823", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR026824", "id": "IPR026824", "database": "InterPro" }, { "url": "https://omabrowser.org/oma/group/QQCHNLP/", "id": "QQCHNLP", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=1174178at2759", "id": "1174178at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR24034:SF96", "id": "PTHR24034:SF96", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF07645", "id": "PF07645", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF12662", "id": "PF12662", "database": "Pfam" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-2129379", "id": "R-RNO-2129379", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264270.1", "id": "NP_001264270.1", "database": "RefSeq" }, { "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1359496", "id": "1359496", "database": "RGD" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2K2R5", "id": "A0A0G2K2R5", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "MONDO:0013754", "url": "https://monarchinitiative.org/disease/MONDO:0013754", "resource": "MONDO", "name": "cutis laxa, autosomal recessive, type 1B", "description": "" }, { "id": "MONDO:0013754", "url": "https://monarchinitiative.org/disease/MONDO:0013754", "resource": "MONDO", "name": "cutis laxa, autosomal recessive, type IB", "description": "" }, { "id": "MONDO:0013754", "url": "https://monarchinitiative.org/disease/MONDO:0013754", "resource": "MONDO", "name": "ARCL1B", "description": "" }, { "id": "MONDO:0013754", "url": "https://monarchinitiative.org/disease/MONDO:0013754", "resource": "MONDO", "name": "cutis laxa, autosomal recessive, type IB; ARCL1B", "description": "" }, { "id": "DOID:0070133", "url": "http://disease-ontology.org/term/DOID:0070133", "resource": "Disease Ontology", "name": "ARCL1B", "description": "" } ], "recommended_name": { "id": "DOID:0070133", "url": "http://disease-ontology.org/term/DOID:0070133", "resource": "Disease Ontology", "name": "autosomal recessive cutis laxa type IB", "description": "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0070133#disease-associations", "id": "0070133", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0007411", "url": "https://monarchinitiative.org/disease/MONDO:0007411", "resource": "MONDO", "name": "cutis laxa, autosomal dominant 1", "description": "" }, { "id": "MONDO:0007411", "url": "https://monarchinitiative.org/disease/MONDO:0007411", "resource": "MONDO", "name": "ELN autosomal dominant cutis laxa", "description": "" }, { "id": "MONDO:0007411", "url": "https://monarchinitiative.org/disease/MONDO:0007411", "resource": "MONDO", "name": "ADCL1", "description": "" }, { "id": "MONDO:0007411", "url": "https://monarchinitiative.org/disease/MONDO:0007411", "resource": "MONDO", "name": "autosomal dominant cutis laxa caused by mutation in ELN", "description": "" }, { "id": "MONDO:0007411", "url": "https://monarchinitiative.org/disease/MONDO:0007411", "resource": "MONDO", "name": "autosomal dominant cutis laxa 1", "description": "" }, { "id": "MONDO:0007411", "url": "https://monarchinitiative.org/disease/MONDO:0007411", "resource": "MONDO", "name": "cutis laxa, autosomal dominant type 1", "description": "" }, { "id": "MONDO:0007411", "url": "https://monarchinitiative.org/disease/MONDO:0007411", "resource": "MONDO", "name": "cutis laxa, autosomal dominant 1; ADCL1", "description": "" }, { "id": "DOID:3144", "url": "http://disease-ontology.org/term/DOID:3144", "resource": "Disease Ontology", "name": "loose skin", "description": "" } ], "recommended_name": { "id": "DOID:3144", "url": "http://disease-ontology.org/term/DOID:3144", "resource": "Disease Ontology", "name": "cutis laxa", "description": "A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/3144#disease-associations", "id": "3144", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:3627", "url": "http://disease-ontology.org/term/DOID:3627", "resource": "Disease Ontology", "name": "ruptured aortic aneurysm", "description": "" } ], "recommended_name": { "id": "DOID:3627", "url": "http://disease-ontology.org/term/DOID:3627", "resource": "Disease Ontology", "name": "aortic aneurysm", "description": "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/3627#disease-associations", "id": "3627", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 49387.0, "chemical_mass": 49387.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K2R5", "name": "Efemp2", "locus": { "end_pos": 220861420, "strand": "+", "start_pos": 220854403, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOG00000020587", "id": "ENSRNOG00000020587", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K2R5#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "EGF-containing fibulin extracellular matrix protein 2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2K2R5", "type": "synonym", "resource": "RefSeq", "name": "EGF-containing fibulin-like extracellular matrix protein 2 isoform 1 precursor" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2K2R5", "type": "synonym", "resource": "RefSeq", "name": "EGF-containing fibulin-like extracellular matrix protein 2" } ] }