{ "uniprot_canonical_ac": "A0A668KLU9-1", "ptm_annotation": [], "sequence": { "header": "tr|A0A668KLU9-1|A0A668KLU9_MOUSE Isoform 1 of Complement factor H-related 2 OS=Mus musculus OX=10090 GN=Cfhr2 PE=1 SV=1 CANONICAL=A0A668KLU9-1", "length": 332, "sequence": "MGFCSMLLLSNILLTAWLSTAKGEEKTCSPPYVPNIIYTPHRIIHRTADEIRYECKNGFYPATRSAVSKCTLTGWIPVPRCTLKPCEFPQFKYGRLYYEESLRPNFPVSIGNKYSYKCDNGFSPPSGYSWDYLRCTAQGWEPEVPCVRKCVFHYVENGDSTYWEKIYVQGQSLKVQCYNGYSLQNGQDTMTCTENGWSPPPKCIRINSTRTCGPPPPIDNGDITSLSLPEYEPLSSVDYQCQKYYLLKGNKTITCRNGNWSEPPMCLHACVIPENIMEAHNIILKWRHTEKIYAHSGEDIEFECKRGYQKARGSLPFRTKCINGTINYPTCV" }, "uniprot_id": "A0A668KLU9_MOUSE", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Mouse", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A668KLU9", "id": "A0A668KLU9", "database": "UniProtKB" } ], "name": "Mus musculus", "taxid": 10090 } ], "publication": [], "uniprot_ac": "A0A668KLU9", "site_annotation": [ { "end_pos": 209, "annotation": "n_glycosylation_sequon", "start_pos": 207 }, { "end_pos": 252, "annotation": "n_glycosylation_sequon", "start_pos": 250 }, { "end_pos": 261, "annotation": "n_glycosylation_sequon", "start_pos": 259 }, { "end_pos": 325, "annotation": "n_glycosylation_sequon", "start_pos": 323 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0A668KLU9#A0A668KLU9-1", "isoform_ac": "A0A668KLU9-1", "locus": { "end_pos": 139810826, "strand": "+", "start_pos": 139858627, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000239380", "id": "ENSMUST00000239380", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000159242", "id": "ENSMUSP00000159242", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A668KLU9-1|A0A668KLU9_MOUSE Isoform 1 of Complement factor H-related 2 OS=Mus musculus OX=10090 GN=Cfhr2 PE=1 SV=1 CANONICAL=A0A668KLU9-1", "length": 332, "sequence": "MGFCSMLLLSNILLTAWLSTAKGEEKTCSPPYVPNIIYTPHRIIHRTADEIRYECKNGFYPATRSAVSKCTLTGWIPVPRCTLKPCEFPQFKYGRLYYEESLRPNFPVSIGNKYSYKCDNGFSPPSGYSWDYLRCTAQGWEPEVPCVRKCVFHYVENGDSTYWEKIYVQGQSLKVQCYNGYSLQNGQDTMTCTENGWSPPPKCIRINSTRTCGPPPPIDNGDITSLSLPEYEPLSSVDYQCQKYYLLKGNKTITCRNGNWSEPPMCLHACVIPENIMEAHNIILKWRHTEKIYAHSGEDIEFECKRGYQKARGSLPFRTKCINGTINYPTCV" } }, { "url": "https://www.uniprot.org/uniprot/A0A668KLU9#Q4LDF6-1", "isoform_ac": "Q4LDF6-1", "locus": { "end_pos": 139810826, "strand": "+", "start_pos": 139858627, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000094489", "id": "ENSMUST00000094489", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000092065", "id": "ENSMUSP00000092065", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|Q4LDF6-1|A0A668KLU9_MOUSE Computationally mapped isoform of Complement factor H-related 2 OS=Mus musculus OX=10090 GN=Cfhr2 PE=1 SV=1 CANONICAL=A0A668KLU9-1", "length": 332, "sequence": "MGFCSMLLLSNILLTAWLSTAKGEEKTCSPPYILNGIYTPHRIIHKSDDEIRYECNYGFYPVTGSTVSKCTPTGWIPVPRCTLKPCEFPQFKYGRLYYEESLRPNFPVSIGNKYSYKCDNGFSPPSGYSWDYLRCTAQGWEPEVPCVRKCVFHYVENGDSTYWEKIYVQGQSLKVQCYNGYSLQNGQDTMTCTENGWSPPPKCIRINSTRTCGPPPPIDNGDITSLSLPEYEPLSSVDYQCQKYYLLKGNKTITCRNGNWSEPPMCLHACVIPENIMEAHNIILKWRHTEKIYAHSGEDIEFECKRGYQKARGSLPFRTKCINGTINYPTCV" } }, { "url": "https://www.uniprot.org/uniprot/A0A668KLU9#Q61405-1", "isoform_ac": "Q61405-1", "locus": { "end_pos": 139805371, "strand": "+", "start_pos": 139858627, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUST00000194186", "id": "ENSMUST00000194186", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSMUSP00000142033", "id": "ENSMUSP00000142033", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|Q61405-1|A0A668KLU9_MOUSE Computationally mapped isoform of Complement factor H-related 2 OS=Mus musculus OX=10090 GN=Cfhr2 PE=1 SV=1 CANONICAL=A0A668KLU9-1", "length": 303, "sequence": "MGFCSMLLLSNILLTAWLSTAKGEEKTCSPPYILNGIYTPHRIIHKSDDEIRYECNYGFYPVTGSTVSKCTPTGWIPVPRCTLKPCEFPQFKYGRLYYEESLRPNFPVSIGNKYSYKCDNGFSPPSGYSWDYLRCTAQGWEPEVPCVRKCVFHYVENGDSTYWEKIYVQGQSLKVQCYNGYSLQNGQDTMTCTENGWSPPPKCIRINSTRTCGPPPPIDNGDITSLSLPEYEPLSSVDYQCQKYYLLKGNKTITCRNGNWSEPPMCLRVYCALSLDIHLGETIGYPRGILWILPLVSFRVSHC" } } ], "pathway": [], "function": [], "orthologs": [], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" } ], "refseq": {}, "go_annotation": {}, "gene_names": [ { "url": "https://www.uniprot.org/uniprot/A0A668KLU9", "type": "recommended", "resource": "UniProtKB", "name": "Cfhr2" } ], "pro_annotation": [], "crossref": [ { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00033", "id": "cd00033", "database": "CDD" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR000436", "id": "IPR000436", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR035976", "id": "IPR035976", "database": "InterPro" }, { "url": "http://www.informatics.jax.org/marker/MGI:3611575", "id": "3611575", "database": "MGI" }, { "url": "http://pfam.xfam.org/family/PF00084", "id": "PF00084", "database": "Pfam" }, { "url": "https://www.uniprot.org/uniprot/A0A668KLU9", "id": "A0A668KLU9", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [], "recommended_name": { "id": "DOID:0080301", "url": "http://disease-ontology.org/term/DOID:0080301", "resource": "Disease Ontology", "name": "atypical hemolytic-uremic syndrome", "description": "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0080301#disease-associations", "id": "0080301", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0011285", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "resource": "MONDO", "name": "age related maculopathy 1", "description": "" }, { "id": "MONDO:0011285", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "resource": "MONDO", "name": "ARMD1", "description": "" }, { "id": "MONDO:0011285", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "resource": "MONDO", "name": "age related macular degeneration type 1", "description": "" }, { "id": "MONDO:0011285", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "resource": "MONDO", "name": "macular degeneration, age-related, 1", "description": "" }, { "id": "MONDO:0011285", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "resource": "MONDO", "name": "maculopathy, age-related, 1", "description": "" }, { "id": "MONDO:0011285", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "resource": "MONDO", "name": "macular degeneration, age-related, 1; ARMD1", "description": "" }, { "id": "MONDO:0011285", "url": "https://monarchinitiative.org/disease/MONDO:0011285", "resource": "MONDO", "name": "macular Degeneration, age-related, type 1", "description": "" }, { "id": "DOID:0110014", "url": "http://disease-ontology.org/term/DOID:0110014", "resource": "Disease Ontology", "name": "ARMD1", "description": "" }, { "id": "DOID:0110014", "url": "http://disease-ontology.org/term/DOID:0110014", "resource": "Disease Ontology", "name": "age related maculopathy 1", "description": "" } ], "recommended_name": { "id": "DOID:0110014", "url": "http://disease-ontology.org/term/DOID:0110014", "resource": "Disease Ontology", "name": "age related macular degeneration 1", "description": "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0110014#disease-associations", "id": "0110014", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:10976", "url": "http://disease-ontology.org/term/DOID:10976", "resource": "Disease Ontology", "name": "membranous nephropathy", "description": "" } ], "recommended_name": { "id": "DOID:10976", "url": "http://disease-ontology.org/term/DOID:10976", "resource": "Disease Ontology", "name": "membranous glomerulonephritis", "description": "" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/10976#disease-associations", "id": "10976", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:13603", "url": "http://disease-ontology.org/term/DOID:13603", "resource": "Disease Ontology", "name": "Cholestatic Jaundice", "description": "" }, { "id": "DOID:13603", "url": "http://disease-ontology.org/term/DOID:13603", "resource": "Disease Ontology", "name": "Cholestatic jaundice syndrome", "description": "" }, { "id": "DOID:13603", "url": "http://disease-ontology.org/term/DOID:13603", "resource": "Disease Ontology", "name": "Obstructive hyperbilirubinemia", "description": "" } ], "recommended_name": { "id": "DOID:13603", "url": "http://disease-ontology.org/term/DOID:13603", "resource": "Disease Ontology", "name": "obstructive jaundice", "description": "" }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/13603#disease-associations", "id": "13603", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [], "recommended_name": { "id": "DOID:2527", "url": "http://disease-ontology.org/term/DOID:2527", "resource": "Disease Ontology", "name": "nephrosis", "description": "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/2527#disease-associations", "id": "2527", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [], "recommended_name": { "id": "DOID:576", "url": "http://disease-ontology.org/term/DOID:576", "resource": "Disease Ontology", "name": "proteinuria", "description": "A kidney disease that is characterized by the presence of excess proteins in the urine." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/576#disease-associations", "id": "576", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [], "recommended_name": { "id": "DOID:670", "url": "http://disease-ontology.org/term/DOID:670", "resource": "Disease Ontology", "name": "amphetamine abuse", "description": "A substance abuse that involves the recurring use of amphetamines despite negative consequences." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/670#disease-associations", "id": "670", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:8466", "url": "http://disease-ontology.org/term/DOID:8466", "resource": "Disease Ontology", "name": "degeneration of retina", "description": "" } ], "recommended_name": { "id": "DOID:8466", "url": "http://disease-ontology.org/term/DOID:8466", "resource": "Disease Ontology", "name": "retinal degeneration", "description": "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/8466#disease-associations", "id": "8466", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 37978.0, "chemical_mass": 37978.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0A668KLU9", "name": "Cfhr2", "locus": { "end_pos": 139804167, "strand": "-", "start_pos": 139858702, "chromosome": "1", "evidence": [ { "url": "https://www.ensembl.org/id/ENSMUSG00000033898", "id": "ENSMUSG00000033898", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0A668KLU9#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Complement factor H-related 2" } ] }