{ "uniprot_canonical_ac": "A0A0G2K684-1", "ptm_annotation": [], "sequence": { "header": "tr|A0A0G2K684-1|A0A0G2K684_RAT Isoform 1 of Complement C3d receptor 2 OS=Rattus norvegicus OX=10116 GN=Cr2 PE=4 SV=1 CANONICAL=A0A0G2K684-1", "length": 1406, "sequence": "MGALGSLWVFFALIAPGVLGQCKLLPKYSFAKPTVVSDKSEFAVGTTWKYKCLPGYFRKSFTITCLESSKWSDAQQFCKRKPCMNPQEPLHGSVHINTGITFGSTITYSCNKGYRLIGDSSATCIISDNTVMWDNSVPICELIPCESPPAISNGYFQSSSRDSFFYGMVATYYCHVGKNREKLFDLVGEKSIYCTSKDNQVGIWNSPPPQCIARVKCPMPEIENGDVESGFKPSFFLNDTVMFKCKSGFIMKGSSIVWCQPDSKWSPPLPTCFRGCLPPQNILHGDYNEKDKEFFSVGQKVSYSCEPGYTLIGTNLVECTPLGAWSPSVPTCEVKSCDAIPNQLLNGRVLLPHNLQLGAEVSFVCDLGFQLKGKSSSQCVPEGETVIWNNKFPVCEQLSCDPPPEVNNTRRLYYSLPVLPGTVVRYTCLPGYRLIGEKAIFCISKDQVTATWDKATPICEPWNKMSACSKPIVPGGIINPGSRPPFKHGDSVTVTCKANFTMKGSKTVWCRANKMWGPTPLPVCESDFPLECPSLPTIHNGHHTGQHVEKFVAGLSVTYSCEPGYLLVGKKTIKCLSSGAWDDVIPTCKEAKCERPEKLPNGQVKEPPSLRVGTTVYFSCNEGYELQGQPSSKCVIVEQKAVWTKKPVCKEILCPPPPPVLNGRHSGRFSGNVPYGNNVTYMCDPSPEKGVNFTLIGEKTIYCTNSSEKTGIWSGPAPYCKLSISEAQCLRPQINRGQILSILKESYSYNDTVAFSCEPGFTLKGSGRIRCSAQGTWKPPVPVCEKGCQAPPKIINGQKEDRYFLNFDPGTSIRYSCDPGYFLVGEDTIHCTSEGKWTPIPPQCKVAECKPVGPHVFERPQNHFIRPAINSSCDEGFQISESAYQLCQGTIPWFIEIRLCKEITCPPPPIILNGTHTWRSSEDVPYGTVITYMCYPGSEEGVKFKLIGEQTIHCTSDSRGRGSWSSPAPLCKLSLPAVQCTEVHVENGVKLTDNKAPYFYNNSVTFKCRDGYILIGSSQIRCKANNTWDPEAPHCKKEGCEPMRKLPGISDHSLIKLVNRTCQNGYQLTGYTYEKCQNAENGTWFQKIAVCTVILCPPPPTIANGSHTGMMAEHFLYGNEVSYECDKGFYLLGEKSLQCKGHGSWSGPPPQCLQSSPLTHCPDPEVKYGYKLNKTHSAYSHNDIIHVVCNQGFIMNGSHLIRCHTNNTWLPGVPTCIRTASLGCQSPPTIPNGNHTGGTIARFSPGMSVMYSCYQGYLMAGEARLICTHEGTWSHPAPYCKEVNCSFPEDTNGIQKGFQPGKTYRFGTTVTLECEDGYSLEGSPQSQCQDENQWNPPLAICKNRSTVPLVSGISAGSAFIILISVIFFIILKSRERNYYTKTRPKDGALHLETREVYAVDPYNPAS" }, "uniprot_id": "A0A0G2K684_RAT", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Rat", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K684", "id": "A0A0G2K684", "database": "UniProtKB" } ], "name": "Rattus norvegicus", "taxid": 10116 } ], "publication": [], "uniprot_ac": "A0A0G2K684", "site_annotation": [ { "end_pos": 1003, "annotation": "n_glycosylation_sequon", "start_pos": 1001 }, { "end_pos": 1027, "annotation": "n_glycosylation_sequon", "start_pos": 1025 }, { "end_pos": 1061, "annotation": "n_glycosylation_sequon", "start_pos": 1059 }, { "end_pos": 1083, "annotation": "n_glycosylation_sequon", "start_pos": 1081 }, { "end_pos": 1106, "annotation": "n_glycosylation_sequon", "start_pos": 1104 }, { "end_pos": 1175, "annotation": "n_glycosylation_sequon", "start_pos": 1173 }, { "end_pos": 1198, "annotation": "n_glycosylation_sequon", "start_pos": 1196 }, { "end_pos": 1208, "annotation": "n_glycosylation_sequon", "start_pos": 1206 }, { "end_pos": 1236, "annotation": "n_glycosylation_sequon", "start_pos": 1234 }, { "end_pos": 1286, "annotation": "n_glycosylation_sequon", "start_pos": 1284 }, { "end_pos": 1345, "annotation": "n_glycosylation_sequon", "start_pos": 1343 }, { "end_pos": 240, "annotation": "n_glycosylation_sequon", "start_pos": 238 }, { "end_pos": 409, "annotation": "n_glycosylation_sequon", "start_pos": 407 }, { "end_pos": 501, "annotation": "n_glycosylation_sequon", "start_pos": 499 }, { "end_pos": 680, "annotation": "n_glycosylation_sequon", "start_pos": 678 }, { "end_pos": 694, "annotation": "n_glycosylation_sequon", "start_pos": 692 }, { "end_pos": 707, "annotation": "n_glycosylation_sequon", "start_pos": 705 }, { "end_pos": 752, "annotation": "n_glycosylation_sequon", "start_pos": 750 }, { "end_pos": 872, "annotation": "n_glycosylation_sequon", "start_pos": 870 }, { "end_pos": 915, "annotation": "n_glycosylation_sequon", "start_pos": 913 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K684#A0A0G2K684-1", "isoform_ac": "A0A0G2K684-1", "locus": { "end_pos": 113897369, "strand": "+", "start_pos": 113927745, "chromosome": "13", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000080616", "id": "ENSRNOT00000080616", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000073714", "id": "ENSRNOP00000073714", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0G2K684-1|A0A0G2K684_RAT Isoform 1 of Complement C3d receptor 2 OS=Rattus norvegicus OX=10116 GN=Cr2 PE=4 SV=1 CANONICAL=A0A0G2K684-1", "length": 1406, "sequence": "MGALGSLWVFFALIAPGVLGQCKLLPKYSFAKPTVVSDKSEFAVGTTWKYKCLPGYFRKSFTITCLESSKWSDAQQFCKRKPCMNPQEPLHGSVHINTGITFGSTITYSCNKGYRLIGDSSATCIISDNTVMWDNSVPICELIPCESPPAISNGYFQSSSRDSFFYGMVATYYCHVGKNREKLFDLVGEKSIYCTSKDNQVGIWNSPPPQCIARVKCPMPEIENGDVESGFKPSFFLNDTVMFKCKSGFIMKGSSIVWCQPDSKWSPPLPTCFRGCLPPQNILHGDYNEKDKEFFSVGQKVSYSCEPGYTLIGTNLVECTPLGAWSPSVPTCEVKSCDAIPNQLLNGRVLLPHNLQLGAEVSFVCDLGFQLKGKSSSQCVPEGETVIWNNKFPVCEQLSCDPPPEVNNTRRLYYSLPVLPGTVVRYTCLPGYRLIGEKAIFCISKDQVTATWDKATPICEPWNKMSACSKPIVPGGIINPGSRPPFKHGDSVTVTCKANFTMKGSKTVWCRANKMWGPTPLPVCESDFPLECPSLPTIHNGHHTGQHVEKFVAGLSVTYSCEPGYLLVGKKTIKCLSSGAWDDVIPTCKEAKCERPEKLPNGQVKEPPSLRVGTTVYFSCNEGYELQGQPSSKCVIVEQKAVWTKKPVCKEILCPPPPPVLNGRHSGRFSGNVPYGNNVTYMCDPSPEKGVNFTLIGEKTIYCTNSSEKTGIWSGPAPYCKLSISEAQCLRPQINRGQILSILKESYSYNDTVAFSCEPGFTLKGSGRIRCSAQGTWKPPVPVCEKGCQAPPKIINGQKEDRYFLNFDPGTSIRYSCDPGYFLVGEDTIHCTSEGKWTPIPPQCKVAECKPVGPHVFERPQNHFIRPAINSSCDEGFQISESAYQLCQGTIPWFIEIRLCKEITCPPPPIILNGTHTWRSSEDVPYGTVITYMCYPGSEEGVKFKLIGEQTIHCTSDSRGRGSWSSPAPLCKLSLPAVQCTEVHVENGVKLTDNKAPYFYNNSVTFKCRDGYILIGSSQIRCKANNTWDPEAPHCKKEGCEPMRKLPGISDHSLIKLVNRTCQNGYQLTGYTYEKCQNAENGTWFQKIAVCTVILCPPPPTIANGSHTGMMAEHFLYGNEVSYECDKGFYLLGEKSLQCKGHGSWSGPPPQCLQSSPLTHCPDPEVKYGYKLNKTHSAYSHNDIIHVVCNQGFIMNGSHLIRCHTNNTWLPGVPTCIRTASLGCQSPPTIPNGNHTGGTIARFSPGMSVMYSCYQGYLMAGEARLICTHEGTWSHPAPYCKEVNCSFPEDTNGIQKGFQPGKTYRFGTTVTLECEDGYSLEGSPQSQCQDENQWNPPLAICKNRSTVPLVSGISAGSAFIILISVIFFIILKSRERNYYTKTRPKDGALHLETREVYAVDPYNPAS" } }, { "url": "https://www.uniprot.org/uniprot/A0A0G2K684#D3Z9F7-1", "isoform_ac": "D3Z9F7-1", "locus": { "end_pos": 113897369, "strand": "+", "start_pos": 113927745, "chromosome": "13", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000010910", "id": "ENSRNOT00000010910", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000010910", "id": "ENSRNOP00000010910", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|D3Z9F7-1|A0A0G2K684_RAT Computationally mapped isoform of Complement C3d receptor 2 OS=Rattus norvegicus OX=10116 GN=Cr2 PE=4 SV=2 CANONICAL=A0A0G2K684-1", "length": 1029, "sequence": "MGALGSLWVFFALIAPGVLELSCDPPPEVNNTRRLYYSLPVLPGTVVRYTCLPGYRLIGEKAIFCISKDQVTATWDKATPICEPWNKMSACSKPIVPGGIINPGSRPPFKHGDSVTVTCKANFTMKGSKTVWCRANKMWGPTPLPVCESDFPLECPSLPTIHNGHHTGQHVEKFVAGLSVTYSCEPGYLLVGKKTIKCLSSGAWDDVIPTCKEAKCERPEKLPNGQVKEPPSLRVGTTVYFSCNEGYELQGQPSSKCVIVEQKAVWTKKPVCKEILCPPPPPVLNGRHSGRFSGNVPYGNNVTYMCDPSPEKGVNFTLIGEKTIYCTNSSEKTGIWSGPAPYCKLSISEAQCLRPQINRGQILSILKESYSYNDTVAFSCEPGFTLKGSGRIRCSAQGTWKPPVPVCEKGCQAPPKIINGQKEDRYFLNFDPGTSIRYSCDPGYFLVGEDTIHCTSEGKWTPIPPQCKVAECKPVGPHVFERPQNHFIRPAINSSCDEGFQISESAYQLCQGTIPWFIEIRLCKEITCPPPPIILNGTHTWRSSEDVPYGTVITYMCYPGSEEGVKFKLIGEQTIHCTSDSRGRGSWSSPAPLCKLSLPAVQCTEVHVENGVKLTDNKAPYFYNNSVTFKCRDGYILIGSSQIRCKANNTWDPEAPHCKKEGCEPMRKLPGISDHSLIKLVNRTCQNGYQLTGYTYEKCQNAENGTWFQKIAVCTVILCPPPPTIANGSHTGMMAEHFLYGNEVSYECDKGFYLLGEKSLQCKGHGSWSGPPPQCLQSSPLTHCPDPEVKYGYKLNKTHSAYSHNDIIHVVCNQGFIMNGSHLIRCHTNNTWLPGVPTCIRTASLGCQSPPTIPNGNHTGGTIARFSPGMSVMYSCYQGYLMAGEARLICTHEGTWSHPAPYCKEVNCSFPEDTNGIQKGFQPGKTYRFGTTVTLECEDGYSLEGSPQSQCQDENQWNPPLAICKNRSTVPLVSGISAGSAFIILISVIFFIILKSRERNYYTKTRPKDGALHLETREVYAVDPYNPAS" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-977606", "resource": "Reactome", "id": "R-RNO-977606", "name": "Regulation of Complement cascade" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "P20023-1", "protein_name": "Complement receptor type 2", "sequence": { "length": 1033, "sequence": "MGAAGLLGVFLALVAPGVLGISCGSPPPILNGRISYYSTPIAVGTVIRYSCSGTFRLIGEKSLLCITKDKVDGTWDKPAPKCEYFNKYSSCPEPIVPGGYKIRGSTPYRHGDSVTFACKTNFSMNGNKSVWCQANNMWGPTRLPTCVSVFPLECPALPMIHNGHHTSENVGSIAPGLSVTYSCESGYLLVGEKIINCLSSGKWSAVPPTCEEARCKSLGRFPNGKVKEPPILRVGVTANFFCDEGYRLQGPPSSRCVIAGQGVAWTKMPVCEEIFCPSPPPILNGRHIGNSLANVSYGSIVTYTCDPDPEEGVNFILIGESTLRCTVDSQKTGTWSGPAPRCELSTSAVQCPHPQILRGRMVSGQKDRYTYNDTVIFACMFGFTLKGSKQIRCNAQGTWEPSAPVCEKECQAPPNILNGQKEDRHMVRFDPGTSIKYSCNPGYVLVGEESIQCTSEGVWTPPVPQCKVAACEATGRQLLTKPQHQFVRPDVNSSCGEGYKLSGSVYQECQGTIPWFMEIRLCKEITCPPPPVIYNGAHTGSSLEDFPYGTTVTYTCNPGPERGVEFSLIGESTIRCTSNDQERGTWSGPAPLCKLSLLAVQCSHVHIANGYKISGKEAPYFYNDTVTFKCYSGFTLKGSSQIRCKADNTWDPEIPVCEKETCQHVRQSLQELPAGSRVELVNTSCQDGYQLTGHAYQMCQDAENGIWFKKIPLCKVIHCHPPPVIVNGKHTGMMAENFLYGNEVSYECDQGFYLLGEKKLQCRSDSKGHGSWSGPSPQCLRSPPVTRCPNPEVKHGYKLNKTHSAYSHNDIVYVDCNPGFIMNGSRVIRCHTDNTWVPGVPTCIKKAFIGCPPPPKTPNGNHTGGNIARFSPGMSILYSCDQGYLLVGEALLLCTHEGTWSQPAPHCKEVNCSSPADMDGIQKGLEPRKMYQYGAVVTLECEDGYMLEGSPQSQCQSDHQWNPPLAVCRSRSLAPVLCGIAAGLILLTFLIVITLYVISKHRARNYYTDTSQKEAFHLEAREVYSVDPYNPAS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/55611", "id": "55611", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "CR2", "tax_id": 9606 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_008768069.1", "ac": "XP_008768069.1", "name": "complement receptor type 2 isoform X1", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004875", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K684", "id": "A0A0G2K684", "database": "UniProtKB" } ], "name": "complement receptor activity", "id": "GO:0004875" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003677", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K684", "id": "A0A0G2K684", "database": "UniProtKB" } ], "name": "DNA binding", "id": "GO:0003677" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042803", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K684", "id": "A0A0G2K684", "database": "UniProtKB" } ], "name": "protein homodimerization activity", "id": "GO:0042803" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001848", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K684", "id": "A0A0G2K684", "database": "UniProtKB" } ], "name": "complement binding", "id": "GO:0001848" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038023", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K684", "id": "A0A0G2K684", "database": "UniProtKB" } ], "name": "signaling receptor activity", "id": "GO:0038023" } ], "total": 5, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016021", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K684", "id": "A0A0G2K684", "database": "UniProtKB" } ], "name": "integral component of membrane", "id": "GO:0016021" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043235", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K684", "id": "A0A0G2K684", "database": "UniProtKB" } ], "name": "receptor complex", "id": "GO:0043235" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009897", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K684", "id": "A0A0G2K684", "database": "UniProtKB" } ], "name": "external side of plasma membrane", "id": "GO:0009897" } ], "total": 3, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042113", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K684", "id": "A0A0G2K684", "database": "UniProtKB" } ], "name": "B cell activation", "id": "GO:0042113" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030183", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K684", "id": "A0A0G2K684", "database": "UniProtKB" } ], "name": "B cell differentiation", "id": "GO:0030183" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042100", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K684", "id": "A0A0G2K684", "database": "UniProtKB" } ], "name": "B cell proliferation", "id": "GO:0042100" } ], "total": 3, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2K684", "type": "synonym", "resource": "RefSeq", "name": "Cd21" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2K684", "type": "synonym", "resource": "RefSeq", "name": "Cr2" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2K684", "type": "recommended", "resource": "UniProtKB", "name": "Cr2" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000034164", "id": "ENSRNOG00000034164", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00033", "id": "cd00033", "database": "CDD" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/289395", "id": "289395", "database": "GeneID" }, { "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": "https://omabrowser.org/oma/group/KVAECEP/", "id": "KVAECEP", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=46968at2759", "id": "46968at2759", "database": "OrthoDB" }, { "url": "http://pfam.xfam.org/family/PF00084", "id": "PF00084", "database": "Pfam" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-977606", "id": "R-RNO-977606", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_008768069.1", "id": "XP_008768069.1", "database": "RefSeq" }, { "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1310065", "id": "1310065", "database": "RGD" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2K684", "id": "A0A0G2K684", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "MONDO:0013285", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "resource": "MONDO", "name": "immunodeficiency, common variable, 5", "description": "" }, { "id": "MONDO:0013285", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "resource": "MONDO", "name": "immunodeficiency, common variable, 5; CVID5", "description": "" }, { "id": "MONDO:0013285", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "resource": "MONDO", "name": "MS4A1 common variable immunodeficiency", "description": "" }, { "id": "MONDO:0013285", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "resource": "MONDO", "name": "antibody deficiency due to CD20 defect", "description": "" }, { "id": "MONDO:0013285", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "resource": "MONDO", "name": "immunodeficiency, common variable, type 5", "description": "" }, { "id": "MONDO:0013285", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "resource": "MONDO", "name": "CVID5", "description": "" }, { "id": "MONDO:0013285", "url": "https://monarchinitiative.org/disease/MONDO:0013285", "resource": "MONDO", "name": "common variable immunodeficiency caused by mutation in MS4A1", "description": "" }, { "id": "DOID:12177", "url": "http://disease-ontology.org/term/DOID:12177", "resource": "Disease Ontology", "name": "CVID", "description": "" }, { "id": "DOID:12177", "url": "http://disease-ontology.org/term/DOID:12177", "resource": "Disease Ontology", "name": "acquired agammaglobulinemia", "description": "" }, { "id": "DOID:12177", "url": "http://disease-ontology.org/term/DOID:12177", "resource": "Disease Ontology", "name": "acquired hypogammaglobulinemia", "description": "" }, { "id": "DOID:12177", "url": "http://disease-ontology.org/term/DOID:12177", "resource": "Disease Ontology", "name": "common variable agammaglobulinemia", "description": "" }, { "id": "DOID:12177", "url": "http://disease-ontology.org/term/DOID:12177", "resource": "Disease Ontology", "name": "sporadic hypogammaglobulinemia", "description": "" } ], "recommended_name": { "id": "DOID:12177", "url": "http://disease-ontology.org/term/DOID:12177", "resource": "Disease Ontology", "name": "common variable immunodeficiency", "description": "An agammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/12177#disease-associations", "id": "12177", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0013152", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "resource": "MONDO", "name": "SLEB14", "description": "" }, { "id": "MONDO:0013152", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "resource": "MONDO", "name": "systemic lupus erythematosus, susceptibility to, 14; SLEB14", "description": "" }, { "id": "MONDO:0013152", "url": "https://monarchinitiative.org/disease/MONDO:0013152", "resource": "MONDO", "name": "systemic lupus erythematosus, susceptibility to, 14", "description": "" }, { "id": "DOID:9074", "url": "http://disease-ontology.org/term/DOID:9074", "resource": "Disease Ontology", "name": "Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "url": "http://disease-ontology.org/term/DOID:9074", "resource": "Disease Ontology", "name": "SLE - Lupus Erythematosus, systemic", "description": "" }, { "id": "DOID:9074", "url": "http://disease-ontology.org/term/DOID:9074", "resource": "Disease Ontology", "name": "disseminated lupus erythematosus", "description": "" } ], "recommended_name": { "id": "DOID:9074", "url": "http://disease-ontology.org/term/DOID:9074", "resource": "Disease Ontology", "name": "systemic lupus erythematosus", "description": "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/9074#disease-associations", "id": "9074", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 155261.0, "chemical_mass": 155261.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K684", "name": "Cr2", "locus": { "end_pos": 113890272, "strand": "-", "start_pos": 113927877, "chromosome": "13", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOG00000034164", "id": "ENSRNOG00000034164", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2K684#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Complement C3d receptor 2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2K684", "type": "synonym", "resource": "RefSeq", "name": "complement receptor type 2 isoform X1" } ] }