{ "uniprot_canonical_ac": "A4UGR9-1", "ptm_annotation": [], "sequence": { "header": "sp|A4UGR9-1|XIRP2_HUMAN Isoform 1 of Xin actin-binding repeat-containing protein 2 OS=Homo sapiens OX=9606 GN=XIRP2 PE=1 SV=2 CANONICAL=A4UGR9-1", "length": 3374, "sequence": "MSPESGHSRIFEATAGPNKPESGFAEDSAARGEGVSDLHEVVSLKERMARYQAAVSRGDCRSFSANMMEESEMCAVPGGLAKVKKQFEDEITSSRNTFAQYQYQHQNRSEQEAIHSSQVGTSRSSQEMARNEQEGSKVQKIDVHGTEMVSHLEKHTEEVNQASQFHQYVQETVIDTPEDEEIPKVSTKLLKEQFEKSAQEKILYSDKEMTTPAKQIKTESEYEETFKPSSVVSTSSTSCVSTSQRKETSTTRYSDHSVTSSTLAQINATSSGMTEEFPPPPPDVLQTSVDVTAFSQSPELPSPPRRLPVPKDVYSKQRNLYELNRLYKHIHPELRKNLEKDYISEVSEIVSSQMNSGSSVSADVQQARYVFENTNDSSQKDLNSEREYLEWDEILKGEVQSIRWIFENQPLDSINNGSPDEGDISRGIADQEIIAGGDVKYTTWMFETQPIDTLGAYSSDTVENAEKIPELARGDVCTARWMFETRPLDSMNKMHQSQEESAVTISKDITGGDVKTVRYMFETQHLDQLGQLHSVDEVHLLQLRSELKEIKGNVKRSIKCFETQPLYVIRDGSGQMLEIKTVHREDVEKGDVRTARWMFETQPLDTINKDITEIKVVRGISMEENVKGGVSKAKWLFETQPLEKIKESEEVIIEKEKIIGTDVSRKCWMFETQPLDILKEVPDADSLQREEIIGGDVQTTKHLFETLPIEALKDSPDIGKLQKITASEEEKGDVRHQKWIFETQPLEDIRKDKKEYTRTVKLEEVDRGDVKNYTHIFESNNLIKFDASHKIEVEGVTRGAVELNKSLFETTPLYAIQDPLGKYHQVKTVQQEEIVRGDVRSCRWLFETRPIDQFDESIHKFQIIRGISAQEIQTGNVKSAKWLFETQPLDSIKYFSDVEETESKTEQTRDIVKGDVKTCKWLFETQPMESLYEKVSLMTSSEEIHKGDVKTCTWLFETQPLDTIKDDSETAVKLQTVKQEEIQGGDVRTACFLFETENLDSIQGEEVKEIKPVEMDIQAGDVSSMRYKFENQSLDSISSSSEEVLKKIKTLKTEDIQKGNVLNCRWLFENQPIDKIKESQEGDECVKTVTDIQGGDVRKGCFIFETFSLDEIKEESDYISTKKTITEEVIQGDVKSYRMLFETQPLYAIQDREGSYHEVTTVKKEEVIHGDVRGTRWLFETKPLDSINKSETVYVIKSVTQEDIQKGDVSSVRYRFETQPLDQISEESHNIMPSIDHIQGGNVKTSRQFFESENFDKNNYIRTVSVNEIQKGNVKTSTWLFETHTMDELRGEGLEYENIKTVTQEDVQKGDVKQAVWLFENRTFDSIMEAHKGITKMTKEEIPPSDVKTTTWLFETTPLHEFNETRVEKIEIIGKSIKETLEDLYSQKVIQAPGIIIEADEIGDVRMAKYKLMNQASPEIQKEEIIRADLRNIMVNLLSKRDCTEREILISEEEKGNVNLTKTQLLNRSTEFHAEKEEIVKGDVQQAIKNLFSEERSVKKGILIQEDEKGDINMTIYCLLHENDGDTIEREEVIGGDVKRTIHNLLSSTSNNKISERAKIDASERGNVQFFTTCIEAGALDYLKQLHTESNETLTAKKQEGEKEIIGGDVEGTKLLLKKRQSLVERTVSETDIIPGDVHNTVKVFMTEPQSTFGKIPKEEIIKGDLTSTLNSLSQAVNQKTVTKTEEIIKGNMLATLKSLKESSHRWKESKQPDAIPGDIEKAIECLEKATNTKTEILKKELLKDDLETSLRSLKEAQRSFKEVHKEGVIKKDAKAVMAGSSGEQKTDIHQVAVQRNKNSLLQPKPGPFEPAAKWQGGADTLSQTMGKSCHGNLVEERTEVNLPKAPKGTVKIVIDREQNNDALEKSLRRLSNSHHKSNVLESGDKTGVWTDTTGEQHLRDEYMSRQLTSTVSVKNNLTTKESDRAVRELKKDDVFNSIQSAGKTVGKQQTYELRNDHQKMEGFHIKSPKKTKNIKILTDTQSSKPSPTQHPVSMPVGGTYDLSGDFQKQTLLKQETKYSNKDIKKKNINLQPMWQLLPVEQDTSNVTEMKVSEKSHNTFKATNKKRETDVHLKSQDFLMKTNTSTGLKMAMERSLNPINFNPENNVKESECPLPPPSPPPPPPSNASSEIEFPLPPPPPLMMFPEKNGFLPSLSTEKIKAEFESFPGLPLPPPPVDEKSERESSSMFLPPPPPPTPSQKPAHLLSSSAPEKHSGDFMQQYSQKEASNSQNSQAKIITGKTGVLPPPTLPKPKLPKHIKDNKNDFSPKVELATSLSDMECKITTSKDQKKVMVMTSSEHTETKQNVISKSLDERKQLSIDSANCLSHTVPGTSAPRKKQIAPLIKSHSFPESSGQQNPKPYMRKFKTPLMIAEEKYRQQKEEIEKQKQESSYYNIVKTQSQNQHITEVEKEMPLQKTNEEVSLSGIDSECTVVQPSPGSQSNARILGVCSDNQLSTTSPETVAAKRLHHVLAASEDKDKMKKEVLQSSRDIMQSKSACEIKQSHQECSTQQTQQKKYLEQLHLPQSKPISPNFKVKTIKLPTLDHTLNETDHSYESHKQQSEIDVQTFTKKQYLKTKKTEASTECSHKQSLAERHYQLPKKEKRVTVQLPTESIQKNQEDKLKMVPRKQREFSGSDRGKLPGSEEKNQGPSMIGRKEERLITERKHEHLKNKSAPKVVKQKVIDAHLDSQTQNFQQTQIQTAESKAEHKKLPQPYNSLQEEKCLEVKGIQEKQVFSNTKDSKQEITQNKSFFSSVKESQRDDGKGALNIVEFLRKREELQQILSRVKQFEAEPNKSGLKTFQTLLNTIPGWLISEDKREYAVHIAMENNLEKVKEEITHIKTQAEDMLVSYENIIQTAMMSSKTGKPGNKPTSLDETSSKVSNVHVSNNKNSEQKENKIAKEKTVQHQVAAHHEATVRSHVKTHQEIKLDDSNIPPPSLKTRPPSPTFITIESTARRTENPTKNELSQSPKKDSYVEPPPRRPMSQKSEIHRANTSPSPPRSRSEQLVRLKDTTAKLSKGAIPCPAATPVPIVEKRSEIIMSPATLRRQIKIETRGRDSPPTITIPVNINHAASGSFRESVDAQEEIRKVEKRATYVHKDGLNSTDHMVPDTESYDAVEIIRKVAVPPRLSEHTQRYEAANRTVQMAENFVNDPENEINRWFREFEHGPVSEAKSNRRVYAKGETNHNIQQESRTFCKEEFGLTSLGNTSFTDFSCKHPRELREKIPVKQPRICSETRSLSEHFSGMDAFESQIVESKMKTSSSHSSEAGKSGCDFKHAPPTYEDVIAGHILDISDSPKEVRKNFQKTWQESGRVFKGLGYATADASATEMRTTFQEESAFISEAAAPRQGNMYTLSKDSLSNGVPSGRQAEFS" }, "uniprot_id": "XIRP2_HUMAN", "enzyme_annotation": [], "glycation": [], "keywords": [ "glycoprotein", "reported_with_glycan.glygen_ds" ], "species": [ { "common_name": "Human", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4UGR9", "id": "A4UGR9", "database": "UniProtKB" } ], "name": "Homo sapiens", "taxid": 9606 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/12203715", "type": [ "PubMed" ], "id": "12203715" } ], "title": "Localization of the novel Xin protein to the adherens junction complex in cardiac and skeletal muscle during development.", "journal": "Developmental dynamics : an official publication of the American Association of Anatomists", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "id": "NP_001073278.1", "database": "RefSeq" } ], "authors": "Sinn HW, Balsamo J, Lilien J, Lin JJ", "date": "2002" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/14687087", "type": [ "PubMed" ], "id": "14687087" } ], "title": "Sequencing, tissue distribution and physical mapping of the porcine homologue of cardiomyopathy associated 3 (CMYA3).", "journal": "Animal genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "id": "NP_001073278.1", "database": "RefSeq" } ], "authors": "Pan PW, Li K, Tuggle CK, Yu M, Liu B, Zhao SH", "date": "2003" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15454575", "type": [ "PubMed" ], "id": "15454575" } ], "title": "Xin repeats define a novel actin-binding motif.", "journal": "J. Cell Sci.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4UGR9", "id": "A4UGR9", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "id": "NP_001073278.1", "database": "RefSeq" } ], "authors": "Rottner K., Fuerst D.O., Vakeel P., van der Ven P.F.M., Himmel M., Loewe T., Pacholsky D., Stradal T.", "date": "2004" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/16205742", "type": [ "PubMed" ], "id": "16205742" } ], "title": "SLC25A12 and CMYA3 gene variants are not associated with autism in the IMGSAC multiplex family sample.", "journal": "European journal of human genetics : EJHG", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "id": "NP_001073278.1", "database": "RefSeq" } ], "authors": "Blasi F, Bacchelli E, Carone S, Toma C, Monaco AP, Bailey AJ, Maestrini E", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/17046827", "type": [ "PubMed" ], "id": "17046827" } ], "title": "Myomaxin is a novel transcriptional target of MEF2A that encodes a Xin-related alpha-actinin-interacting protein.", "journal": "The Journal of biological chemistry", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "id": "NP_001073278.1", "database": "RefSeq" } ], "authors": "Huang HT, Brand OM, Mathew M, Ignatiou C, Ewen EP, McCalmon SA, Naya FJ", "date": "2006" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20520587", "type": [ "PubMed" ], "id": "20520587" } ], "title": "Genome-wide association study identifies genes that may contribute to risk for developing heroin addiction.", "journal": "Psychiatric genetics", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "id": "NP_001073278.1", "database": "RefSeq" } ], "authors": "Nielsen DA, Ji F, Yuferov V, Ho A, He C, Ott J, Kreek MJ", "date": "2010" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/24475916", "type": [ "PubMed" ], "id": "24475916" } ], "title": "CCDD Phenotype Associated with a Small Chromosome 2 Deletion.", "journal": "Seminars in ophthalmology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "id": "NP_001073278.1", "database": "RefSeq" } ], "authors": "Abu-Amero KK, Bosley TM, Kondkar AA, Oystreck DT, Khan AO", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/25865352", "type": [ "PubMed" ], "id": "25865352" } ], "title": "A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis.", "journal": "The Journal of allergy and clinical immunology", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "id": "NP_001073278.1", "database": "RefSeq" } ], "authors": "Schaarschmidt H, Ellinghaus D, Rodriguez E, Kretschmer A, Baurecht H, Lipinski S, Meyer-Hoffert U, Harder J, Lieb W, Novak N, Folster-Holst R, Esparza-Gordillo J, Marenholz I, Ruschendorf F, Hubner N, Reischl E, Waldenberger M, Gieger C, Illig T, Kabesch M, Zhang XJ, Xiao FL, Lee YA, Franke A, Weidinger S", "date": "2015" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26566883", "type": [ "PubMed" ], "id": "26566883" } ], "title": "Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.", "journal": "J. Med. Genet.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4UGR9", "id": "A4UGR9", "database": "UniProtKB" } ], "authors": "Wiemann S., Rappold G.A., Wade R.C., Aslamkhan M., Berkel S., Mustafa G., Paramasivam N., Rafiullah R., Schlesner M., Thiel C.", "date": "2016" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/28411811", "type": [ "PubMed" ], "id": "28411811" } ], "title": "A novel strategy for global mapping of O-GlcNAc proteins and peptides using selective enzymatic deglycosylation, HILIC enrichment and mass spectrometry identification.", "journal": "Talanta", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" } ], "authors": "Shen B, Zhang W, Shi Z, Tian F, Deng Y, Sun C, Wang G, Qin W, Qian X", "date": "2017" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29306897", "type": [ "PubMed" ], "id": "29306897" } ], "title": "Critical Roles of Xirp Proteins in Cardiac Conduction and Their Rare Variants Identified in Sudden Unexplained Nocturnal Death Syndrome and Brugada Syndrome in Chinese Han Population.", "journal": "Journal of the American Heart Association", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "id": "NP_001073278.1", "database": "RefSeq" } ], "authors": "Huang L, Wu KH, Zhang L, Wang Q, Tang S, Wu Q, Jiang PH, Lin JJ, Guo J, Wang L, Loh SH, Cheng J", "date": "2018" }, { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/29351928", "type": [ "PubMed" ], "id": "29351928" } ], "title": "Mapping and Quantification of Over 2000 O-linked Glycopeptides in Activated Human T Cells with Isotope-Targeted Glycoproteomics (Isotag).", "journal": "Molecular & cellular proteomics : MCP", "evidence": [ { "url": "https://data.glygen.org/GLYDS000517", "id": "GLYDS000517", "database": "GlyGen" } ], "authors": "Woo CM, Lund PJ, Huang AC, Davis MM, Bertozzi CR, Pitteri SJ", "date": "2018" } ], "uniprot_ac": "A4UGR9", "site_annotation": [ { "end_pos": 1033, "annotation": "n_glycosylation_sequon", "start_pos": 1031 }, { "end_pos": 109, "annotation": "n_glycosylation_sequon", "start_pos": 107 }, { "end_pos": 1190, "annotation": "n_glycosylation_sequon", "start_pos": 1188 }, { "end_pos": 1323, "annotation": "n_glycosylation_sequon", "start_pos": 1321 }, { "end_pos": 1365, "annotation": "n_glycosylation_sequon", "start_pos": 1363 }, { "end_pos": 1461, "annotation": "n_glycosylation_sequon", "start_pos": 1459 }, { "end_pos": 1469, "annotation": "n_glycosylation_sequon", "start_pos": 1467 }, { "end_pos": 1515, "annotation": "n_glycosylation_sequon", "start_pos": 1513 }, { "end_pos": 1593, "annotation": "n_glycosylation_sequon", "start_pos": 1591 }, { "end_pos": 1919, "annotation": "n_glycosylation_sequon", "start_pos": 1917 }, { "end_pos": 2048, "annotation": "n_glycosylation_sequon", "start_pos": 2046 }, { "end_pos": 2085, "annotation": "n_glycosylation_sequon", "start_pos": 2083 }, { "end_pos": 2128, "annotation": "n_glycosylation_sequon", "start_pos": 2126 }, { "end_pos": 2550, "annotation": "n_glycosylation_sequon", "start_pos": 2548 }, { "end_pos": 2673, "annotation": "n_glycosylation_sequon", "start_pos": 2671 }, { "end_pos": 269, "annotation": "n_glycosylation_sequon", "start_pos": 267 }, { "end_pos": 2750, "annotation": "n_glycosylation_sequon", "start_pos": 2748 }, { "end_pos": 2796, "annotation": "n_glycosylation_sequon", "start_pos": 2794 }, { "end_pos": 2996, "annotation": "n_glycosylation_sequon", "start_pos": 2994 }, { "end_pos": 3105, "annotation": "n_glycosylation_sequon", "start_pos": 3103 }, { "end_pos": 3143, "annotation": "n_glycosylation_sequon", "start_pos": 3141 }, { "end_pos": 3210, "annotation": "n_glycosylation_sequon", "start_pos": 3208 }, { "end_pos": 377, "annotation": "n_glycosylation_sequon", "start_pos": 375 }, { "end_pos": 418, "annotation": "n_glycosylation_sequon", "start_pos": 416 }, { "end_pos": 774, "annotation": "n_glycosylation_sequon", "start_pos": 772 }, { "end_pos": 806, "annotation": "n_glycosylation_sequon", "start_pos": 804 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A4UGR9#A0A0A0MQZ3-1", "isoform_ac": "A0A0A0MQZ3-1", "locus": { "end_pos": 167249151, "strand": "-", "start_pos": 167254123, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000295237", "id": "ENST00000295237", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000295237", "id": "ENSP00000295237", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0A0MQZ3-1|XIRP2_HUMAN Computationally mapped isoform of Xin actin-binding repeat-containing protein 2 OS=Homo sapiens OX=9606 GN=XIRP2 PE=1 SV=1 CANONICAL=A4UGR9-1", "length": 963, "sequence": "MPLQKTNEEVSLSGIDSECTVVQPSPGSQSNARILGVCSDNQLSTTSPETVAAKRLHHVLAASEDKDKMKKEVLQSSRDIMQSKSACEIKQSHQECSTQQTQQKKYLEQLHLPQSKPISPNFKVKTIKLPTLDHTLNETDHSYESHKQQSEIDVQTFTKKQYLKTKKTEASTECSHKQSLAERHYQLPKKEKRVTVQLPTESIQKNQEDKLKMVPRKQREFSGSDRGKLPGSEEKNQGPSMIGRKEERLITERKHEHLKNKSAPKVVKQKVIDAHLDSQTQNFQQTQIQTAESKAEHKKLPQPYNSLQEEKCLEVKGIQEKQVFSNTKDSKQEITQNKSFFSSVKESQRDDGKGALNIVEFLRKREELQQILSRVKQFEAEPNKSGLKTFQTLLNTIPGWLISEDKREYAVHIAMENNLEKVKEEITHIKTQAEDMLVSYENIIQTAMMSSKTGKPGNKPTSLDETSSKVSNVHVSNNKNSEQKENKIAKEKTVQHQVAAHHEATVRSHVKTHQEIKLDDSNIPPPSLKTRPPSPTFITIESTARRTENPTKNELSQSPKKDSYVEPPPRRPMSQKSEIHRANTSPSPPRSRSEQLVRLKDTTAKLSKGAIPCPAATPVPIVEKRSEIIMSPATLRRQIKIETRGRDSPPTITIPVNINHAASGSFRESVDAQEEIRKVEKRATYVHKDGLNSTDHMVPDTESYDAVEIIRKVAVPPRLSEHTQRYEAANRTVQMAENFVNDPENEINRWFREFEHGPVSEAKSNRRVYAKGETNHNIQQESRTFCKEEFGLTSLGNTSFTDFSCKHPRELREKIPVKQPRICSETRSLSEHFSGMDAFESQIVESKMKTSSSHSSEAGKSGCDFKHAPPTYEDVIAGHILDISDSPKEVRKNFQKTWQESGRVFKGLGYATADASATEMRTTFQEESAFISEAAAPRQGNMYTLSKDSLSNGVPSGRQAEFS" } }, { "url": "https://www.uniprot.org/uniprot/A4UGR9#A4UGR9-1", "isoform_ac": "A4UGR9-1", "locus": { "end_pos": 167136026, "strand": "-", "start_pos": 167254123, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000628543", "id": "ENST00000628543", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000486198", "id": "ENSP00000486198", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4UGR9-1|XIRP2_HUMAN Isoform 1 of Xin actin-binding repeat-containing protein 2 OS=Homo sapiens OX=9606 GN=XIRP2 PE=1 SV=2 CANONICAL=A4UGR9-1", "length": 3374, "sequence": "MSPESGHSRIFEATAGPNKPESGFAEDSAARGEGVSDLHEVVSLKERMARYQAAVSRGDCRSFSANMMEESEMCAVPGGLAKVKKQFEDEITSSRNTFAQYQYQHQNRSEQEAIHSSQVGTSRSSQEMARNEQEGSKVQKIDVHGTEMVSHLEKHTEEVNQASQFHQYVQETVIDTPEDEEIPKVSTKLLKEQFEKSAQEKILYSDKEMTTPAKQIKTESEYEETFKPSSVVSTSSTSCVSTSQRKETSTTRYSDHSVTSSTLAQINATSSGMTEEFPPPPPDVLQTSVDVTAFSQSPELPSPPRRLPVPKDVYSKQRNLYELNRLYKHIHPELRKNLEKDYISEVSEIVSSQMNSGSSVSADVQQARYVFENTNDSSQKDLNSEREYLEWDEILKGEVQSIRWIFENQPLDSINNGSPDEGDISRGIADQEIIAGGDVKYTTWMFETQPIDTLGAYSSDTVENAEKIPELARGDVCTARWMFETRPLDSMNKMHQSQEESAVTISKDITGGDVKTVRYMFETQHLDQLGQLHSVDEVHLLQLRSELKEIKGNVKRSIKCFETQPLYVIRDGSGQMLEIKTVHREDVEKGDVRTARWMFETQPLDTINKDITEIKVVRGISMEENVKGGVSKAKWLFETQPLEKIKESEEVIIEKEKIIGTDVSRKCWMFETQPLDILKEVPDADSLQREEIIGGDVQTTKHLFETLPIEALKDSPDIGKLQKITASEEEKGDVRHQKWIFETQPLEDIRKDKKEYTRTVKLEEVDRGDVKNYTHIFESNNLIKFDASHKIEVEGVTRGAVELNKSLFETTPLYAIQDPLGKYHQVKTVQQEEIVRGDVRSCRWLFETRPIDQFDESIHKFQIIRGISAQEIQTGNVKSAKWLFETQPLDSIKYFSDVEETESKTEQTRDIVKGDVKTCKWLFETQPMESLYEKVSLMTSSEEIHKGDVKTCTWLFETQPLDTIKDDSETAVKLQTVKQEEIQGGDVRTACFLFETENLDSIQGEEVKEIKPVEMDIQAGDVSSMRYKFENQSLDSISSSSEEVLKKIKTLKTEDIQKGNVLNCRWLFENQPIDKIKESQEGDECVKTVTDIQGGDVRKGCFIFETFSLDEIKEESDYISTKKTITEEVIQGDVKSYRMLFETQPLYAIQDREGSYHEVTTVKKEEVIHGDVRGTRWLFETKPLDSINKSETVYVIKSVTQEDIQKGDVSSVRYRFETQPLDQISEESHNIMPSIDHIQGGNVKTSRQFFESENFDKNNYIRTVSVNEIQKGNVKTSTWLFETHTMDELRGEGLEYENIKTVTQEDVQKGDVKQAVWLFENRTFDSIMEAHKGITKMTKEEIPPSDVKTTTWLFETTPLHEFNETRVEKIEIIGKSIKETLEDLYSQKVIQAPGIIIEADEIGDVRMAKYKLMNQASPEIQKEEIIRADLRNIMVNLLSKRDCTEREILISEEEKGNVNLTKTQLLNRSTEFHAEKEEIVKGDVQQAIKNLFSEERSVKKGILIQEDEKGDINMTIYCLLHENDGDTIEREEVIGGDVKRTIHNLLSSTSNNKISERAKIDASERGNVQFFTTCIEAGALDYLKQLHTESNETLTAKKQEGEKEIIGGDVEGTKLLLKKRQSLVERTVSETDIIPGDVHNTVKVFMTEPQSTFGKIPKEEIIKGDLTSTLNSLSQAVNQKTVTKTEEIIKGNMLATLKSLKESSHRWKESKQPDAIPGDIEKAIECLEKATNTKTEILKKELLKDDLETSLRSLKEAQRSFKEVHKEGVIKKDAKAVMAGSSGEQKTDIHQVAVQRNKNSLLQPKPGPFEPAAKWQGGADTLSQTMGKSCHGNLVEERTEVNLPKAPKGTVKIVIDREQNNDALEKSLRRLSNSHHKSNVLESGDKTGVWTDTTGEQHLRDEYMSRQLTSTVSVKNNLTTKESDRAVRELKKDDVFNSIQSAGKTVGKQQTYELRNDHQKMEGFHIKSPKKTKNIKILTDTQSSKPSPTQHPVSMPVGGTYDLSGDFQKQTLLKQETKYSNKDIKKKNINLQPMWQLLPVEQDTSNVTEMKVSEKSHNTFKATNKKRETDVHLKSQDFLMKTNTSTGLKMAMERSLNPINFNPENNVKESECPLPPPSPPPPPPSNASSEIEFPLPPPPPLMMFPEKNGFLPSLSTEKIKAEFESFPGLPLPPPPVDEKSERESSSMFLPPPPPPTPSQKPAHLLSSSAPEKHSGDFMQQYSQKEASNSQNSQAKIITGKTGVLPPPTLPKPKLPKHIKDNKNDFSPKVELATSLSDMECKITTSKDQKKVMVMTSSEHTETKQNVISKSLDERKQLSIDSANCLSHTVPGTSAPRKKQIAPLIKSHSFPESSGQQNPKPYMRKFKTPLMIAEEKYRQQKEEIEKQKQESSYYNIVKTQSQNQHITEVEKEMPLQKTNEEVSLSGIDSECTVVQPSPGSQSNARILGVCSDNQLSTTSPETVAAKRLHHVLAASEDKDKMKKEVLQSSRDIMQSKSACEIKQSHQECSTQQTQQKKYLEQLHLPQSKPISPNFKVKTIKLPTLDHTLNETDHSYESHKQQSEIDVQTFTKKQYLKTKKTEASTECSHKQSLAERHYQLPKKEKRVTVQLPTESIQKNQEDKLKMVPRKQREFSGSDRGKLPGSEEKNQGPSMIGRKEERLITERKHEHLKNKSAPKVVKQKVIDAHLDSQTQNFQQTQIQTAESKAEHKKLPQPYNSLQEEKCLEVKGIQEKQVFSNTKDSKQEITQNKSFFSSVKESQRDDGKGALNIVEFLRKREELQQILSRVKQFEAEPNKSGLKTFQTLLNTIPGWLISEDKREYAVHIAMENNLEKVKEEITHIKTQAEDMLVSYENIIQTAMMSSKTGKPGNKPTSLDETSSKVSNVHVSNNKNSEQKENKIAKEKTVQHQVAAHHEATVRSHVKTHQEIKLDDSNIPPPSLKTRPPSPTFITIESTARRTENPTKNELSQSPKKDSYVEPPPRRPMSQKSEIHRANTSPSPPRSRSEQLVRLKDTTAKLSKGAIPCPAATPVPIVEKRSEIIMSPATLRRQIKIETRGRDSPPTITIPVNINHAASGSFRESVDAQEEIRKVEKRATYVHKDGLNSTDHMVPDTESYDAVEIIRKVAVPPRLSEHTQRYEAANRTVQMAENFVNDPENEINRWFREFEHGPVSEAKSNRRVYAKGETNHNIQQESRTFCKEEFGLTSLGNTSFTDFSCKHPRELREKIPVKQPRICSETRSLSEHFSGMDAFESQIVESKMKTSSSHSSEAGKSGCDFKHAPPTYEDVIAGHILDISDSPKEVRKNFQKTWQESGRVFKGLGYATADASATEMRTTFQEESAFISEAAAPRQGNMYTLSKDSLSNGVPSGRQAEFS" } }, { "url": "https://www.uniprot.org/uniprot/A4UGR9#A4UGR9-2", "isoform_ac": "A4UGR9-2", "locus": { "end_pos": 167210839, "strand": "-", "start_pos": 167254123, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000409273", "id": "ENST00000409273", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000387255", "id": "ENSP00000387255", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4UGR9-2|XIRP2_HUMAN Isoform 2 of Xin actin-binding repeat-containing protein 2 OS=Homo sapiens OX=9606 GN=XIRP2 PE=1 SV=2 CANONICAL=A4UGR9-1", "length": 3327, "sequence": "MARYQAAVSRGDCRSFSANMMEESEMCAVPGGLAKVKKQFEDEITSSRNTFAQYQYQHQNRSEQEAIHSSQVGTSRSSQEMARNEQEGSKVQKIDVHGTEMVSHLEKHTEEVNQASQFHQYVQETVIDTPEDEEIPKVSTKLLKEQFEKSAQEKILYSDKEMTTPAKQIKTESEYEETFKPSSVVSTSSTSCVSTSQRKETSTTRYSDHSVTSSTLAQINATSSGMTEEFPPPPPDVLQTSVDVTAFSQSPELPSPPRRLPVPKDVYSKQRNLYELNRLYKHIHPELRKNLEKDYISEVSEIVSSQMNSGSSVSADVQQARYVFENTNDSSQKDLNSEREYLEWDEILKGEVQSIRWIFENQPLDSINNGSPDEGDISRGIADQEIIAGGDVKYTTWMFETQPIDTLGAYSSDTVENAEKIPELARGDVCTARWMFETRPLDSMNKMHQSQEESAVTISKDITGGDVKTVRYMFETQHLDQLGQLHSVDEVHLLQLRSELKEIKGNVKRSIKCFETQPLYVIRDGSGQMLEIKTVHREDVEKGDVRTARWMFETQPLDTINKDITEIKVVRGISMEENVKGGVSKAKWLFETQPLEKIKESEEVIIEKEKIIGTDVSRKCWMFETQPLDILKEVPDADSLQREEIIGGDVQTTKHLFETLPIEALKDSPDIGKLQKITASEEEKGDVRHQKWIFETQPLEDIRKDKKEYTRTVKLEEVDRGDVKNYTHIFESNNLIKFDASHKIEVEGVTRGAVELNKSLFETTPLYAIQDPLGKYHQVKTVQQEEIVRGDVRSCRWLFETRPIDQFDESIHKFQIIRGISAQEIQTGNVKSAKWLFETQPLDSIKYFSDVEETESKTEQTRDIVKGDVKTCKWLFETQPMESLYEKVSLMTSSEEIHKGDVKTCTWLFETQPLDTIKDDSETAVKLQTVKQEEIQGGDVRTACFLFETENLDSIQGEEVKEIKPVEMDIQAGDVSSMRYKFENQSLDSISSSSEEVLKKIKTLKTEDIQKGNVLNCRWLFENQPIDKIKESQEGDECVKTVTDIQGGDVRKGCFIFETFSLDEIKEESDYISTKKTITEEVIQGDVKSYRMLFETQPLYAIQDREGSYHEVTTVKKEEVIHGDVRGTRWLFETKPLDSINKSETVYVIKSVTQEDIQKGDVSSVRYRFETQPLDQISEESHNIMPSIDHIQGGNVKTSRQFFESENFDKNNYIRTVSVNEIQKGNVKTSTWLFETHTMDELRGEGLEYENIKTVTQEDVQKGDVKQAVWLFENRTFDSIMEAHKGITKMTKEEIPPSDVKTTTWLFETTPLHEFNETRVEKIEIIGKSIKETLEDLYSQKVIQAPGIIIEADEIGDVRMAKYKLMNQASPEIQKEEIIRADLRNIMVNLLSKRDCTEREILISEEEKGNVNLTKTQLLNRSTEFHAEKEEIVKGDVQQAIKNLFSEERSVKKGILIQEDEKGDINMTIYCLLHENDGDTIEREEVIGGDVKRTIHNLLSSTSNNKISERAKIDASERGNVQFFTTCIEAGALDYLKQLHTESNETLTAKKQEGEKEIIGGDVEGTKLLLKKRQSLVERTVSETDIIPGDVHNTVKVFMTEPQSTFGKIPKEEIIKGDLTSTLNSLSQAVNQKTVTKTEEIIKGNMLATLKSLKESSHRWKESKQPDAIPGDIEKAIECLEKATNTKTEILKKELLKDDLETSLRSLKEAQRSFKEVHKEGVIKKDAKAVMAGSSGEQKTDIHQVAVQRNKNSLLQPKPGPFEPAAKWQGGADTLSQTMGKSCHGNLVEERTEVNLPKAPKGTVKIVIDREQNNDALEKSLRRLSNSHHKSNVLESGDKTGVWTDTTGEQHLRDEYMSRQLTSTVSVKNNLTTKESDRAVRELKKDDVFNSIQSAGKTVGKQQTYELRNDHQKMEGFHIKSPKKTKNIKILTDTQSSKPSPTQHPVSMPVGGTYDLSGDFQKQTLLKQETKYSNKDIKKKNINLQPMWQLLPVEQDTSNVTEMKVSEKSHNTFKATNKKRETDVHLKSQDFLMKTNTSTGLKMAMERSLNPINFNPENNVKESECPLPPPSPPPPPPSNASSEIEFPLPPPPPLMMFPEKNGFLPSLSTEKIKAEFESFPGLPLPPPPVDEKSERESSSMFLPPPPPPTPSQKPAHLLSSSAPEKHSGDFMQQYSQKEASNSQNSQAKIITGKTGVLPPPTLPKPKLPKHIKDNKNDFSPKVELATSLSDMECKITTSKDQKKVMVMTSSEHTETKQNVISKSLDERKQLSIDSANCLSHTVPGTSAPRKKQIAPLIKSHSFPESSGQQNPKPYMRKFKTPLMIAEEKYRQQKEEIEKQKQESSYYNIVKTQSQNQHITEVEKEMPLQKTNEEVSLSGIDSECTVVQPSPGSQSNARILGVCSDNQLSTTSPETVAAKRLHHVLAASEDKDKMKKEVLQSSRDIMQSKSACEIKQSHQECSTQQTQQKKYLEQLHLPQSKPISPNFKVKTIKLPTLDHTLNETDHSYESHKQQSEIDVQTFTKKQYLKTKKTEASTECSHKQSLAERHYQLPKKEKRVTVQLPTESIQKNQEDKLKMVPRKQREFSGSDRGKLPGSEEKNQGPSMIGRKEERLITERKHEHLKNKSAPKVVKQKVIDAHLDSQTQNFQQTQIQTAESKAEHKKLPQPYNSLQEEKCLEVKGIQEKQVFSNTKDSKQEITQNKSFFSSVKESQRDDGKGALNIVEFLRKREELQQILSRVKQFEAEPNKSGLKTFQTLLNTIPGWLISEDKREYAVHIAMENNLEKVKEEITHIKTQAEDMLVSYENIIQTAMMSSKTGKPGNKPTSLDETSSKVSNVHVSNNKNSEQKENKIAKEKTVQHQVAAHHEATVRSHVKTHQEIKLDDSNIPPPSLKTRPPSPTFITIESTARRTENPTKNELSQSPKKDSYVEPPPRRPMSQKSEIHRANTSPSPPRSRSEQLVRLKDTTAKLSKGAIPCPAATPVPIVEKRSEIIMSPATLRRQIKIETRGRDSPPTITIPVNINHAASGSFRESVDAQEEIRKVEKRATYVHKDGLNSTDHMVPDTESYDAVEIIRKVAVPPRLSEHTQRYEAANRTVQMAENFVNDPENEINRWFREFEHGPVSEAKSNRRVYAKGETNHNIQQESRTFCKEEFGLTSLGNTSFTDFSCKHPRELREKIPVKQPRICSETRSLSEHFSGMDAFESQIVESKMKTSSSHSSEAGKSGCDFKHAPPTYEDVIAGHILDISDSPKEVRKNFQKTWQESGRVFKGLGYATADASATEMRTTFQEESAFISEAAAPRQGNMYTLSKDSLSNGVPSGRQAEFS" } }, { "url": "https://www.uniprot.org/uniprot/A4UGR9#A4UGR9-3", "isoform_ac": "A4UGR9-3", "locus": {}, "sequence": { "header": "sp|A4UGR9-3|XIRP2_HUMAN Isoform 3 of Xin actin-binding repeat-containing protein 2 OS=Homo sapiens OX=9606 GN=XIRP2 PE=1 SV=2 CANONICAL=A4UGR9-1", "length": 3345, "sequence": "MSPESGHSRIFEATAGPNKPESGFAEDSAARGEGVSDLHEVVSLKERMARYQAAVSRGDCRSFSANMMEESEMCAVPGGLAKVKKQFEDEITSSRNTFAQYQYQHQNRSEQEAIHSSQVGTSRSSQEMARNEQEGSKVQKIDVHGTEMVSHLEKHTEEVNQASQFHQYVQETVIDTPEDEEIPKVSTKLLKEQFEKSAQEKILYSDKEMTTPAKQIKTESEYEETFKPSSVVSTSSTSCVSTSQRKETSTTRYSDHSVTSSTLAQINATSSGMTEEFPPPPPDVLQTSVDVTAFSQSPELPSPPRRLPVPKDVYSKQRNLYELNRLYKHIHPELRKNLEKDYISEVSEIVSSQMNSGSSVSADVQQARYVFENTNDSSQKDLNSEREYLEWDEILKGEVQSIRWIFENQPLDSINNGSPDEGDISRGIADQEIIAGGDVKYTTWMFETQPIDTLGAYSSDTVENAEKIPELARGDVCTARWMFETRPLDSMNKMHQSQEESAVTISKDITGGDVKTVRYMFETQHLDQLGQLHSVDEVHLLQLRSELKEIKGNVKRSIKCFETQPLYVIRDGSGQMLEIKTVHREDVEKGDVRTARWMFETQPLDTINKDITEIKVVRGISMEENVKGGVSKAKWLFETQPLEKIKESEEVIIEKEKIIGTDVSRKCWMFETQPLDILKEVPDADSLQREEIIGGDVQTTKHLFETLPIEALKDSPDIGKLQKITASEEEKGDVRHQKWIFETQPLEDIRKDKKEYTRTVKLEEVDRGDVKNYTHIFESNNLIKFDASHKIEVEGVTRGAVELNKSLFETTPLYAIQDPLGKYHQVKTVQQEEIVRGDVRSCRWLFETRPIDQFDESIHKFQIIRGISAQEIQTGNVKSAKWLFETQPLDSIKYFSDVEETESKTEQTRDIVKGDVKTCKWLFETQPMESLYEKVSLMTSSEEIHKGDVKTCTWLFETQPLDTIKDDSETAVKLQTVKQEEIQGGDVRTACFLFETENLDSIQGEEVKEIKPVEMDIQAGDVSSMRYKFENQSLDSISSSSEEVLKKIKTLKTEDIQKGNVLNCRWLFENQPIDKIKESQEGDECVKTVTDIQGGDVRKGCFIFETFSLDEIKEESDYISTKKTITEEVIQGDVKSYRMLFETQPLYAIQDREGSYHEVTTVKKEEVIHGDVRGTRWLFETKPLDSINKSETVYVIKSVTQEDIQKGDVSSVRYRFETQPLDQISEESHNIMPSIDHIQGGNVKTSRQFFESENFDKNNYIRTVSVNEIQKGNVKTSTWLFETHTMDELRGEGLEYENIKTVTQEDVQKGDVKQAVWLFENRTFDSIMEAHKGITKMTKEEIPPSDVKTTTWLFETTPLHEFNETRVEKIEIIGKSIKETLEDLYSQKVIQAPGIIIEADEIGDVRMAKYKLMNQASPEIQKEEIIRADLRNIMVNLLSKRDCTEREILISEEEKGNVNLTKTQLLNRSTEFHAEKEEIVKGDVQQAIKNLFSEERSVKKGILIQEDEKGDINMTIYCLLHENDGDTIEREEVIGGDVKRTIHNLLSSTSNNKISERAKIDASERGNVQFFTTCIEAGALDYLKQLHTESNETLTAKKQEGEKEIIGGDVEGTKLLLKKRQSLVERTVSETDIIPGDVHNTVKVFMTEPQSTFGKIPKEEIIKGDLTSTLNSLSQAVNQKTVTKTEEIIKGNMLATLKSLKESSHRWKESKQPDAIPGDIEKAIECLEKATNTKTEILKKELLKDDLETSLRSLKEAQRSFKEVHKEGVIKKDAKAVMAGSSGEQKTDIHQVAVQRNKNSLLQPKPGPFEPAAKWQGGADTLSQTMGKSCHGNLVEERTEVNLPKAPKGTVKIVIDREQNNDALEKSLRRLSNSHHKSNVLESGDKTGVWTDTTGEQHLRDEYMSRQLTSTVSVKNNLTTKESDRAVRELKKDDVFNSIQSAGKTVGKQQTYELRNDHQKMEGFHIKSPKKTKNIKILTDTQSSKPSPTQHPVSMPVGGTYDLSGDFQKQTLLKQETKYSNKDIKKKNINLQPMWQLLPVEQDTSNVTEMKVSEKSHNTFKATNKKRETDVHLKSQDFLMKTNTSTGLKMAMERSLNPINFNPENNVKESECPLPPPSPPPPPPSNASSEIEFPLPPPPPLMMFPEKNGFLPSLSTEKIKAEFESFPGLPLPPPPVDEKSERESSSMFLPPPPPPTPSQKPAHLLSSSAPEKHSGDFMQQYSQKEASNSQNSQAKIITGKTGVLPPPTLPKPKLPKHIKDNKNDFSPKVELATSLSDMECKITTSKDQKKVMVMTSSEHTETKQNVISKSLDERKQLSIDSANCLSHTVPGTSAPRKKQIAPLIKSHSFPESSGQQNPKPYMRKFKTPLMIAEEKYRQQKEEIEKQKQESSYYNIVKTQSQNQHITEVEKEMPLQKTNEEVSLSGIDSECTVVQPSPGSQSNARILGVCSDNQLSTTSPETVAAKRLHHVLAASEDKDKMKKEVLQSSRDIMQSKSACEIKQSHQECSTQQTQQKKYLEQLHLPQSKPISPNFKVKTIKLPTLDHTLNETDHSYESHKQQSEIDVQTFTKKQYLKTKKTEASTECSHKQSLAERHYQLPKKEKRVTVQLPTESIQKNQEDKLKMVPRKQREFSGSDRGKLPGSEEKNQGPSMIGRKEERLITERKHEHLKNKSAPKVVKQKVIDAHLDSQTQNFQQTQIQTAESKAEHKKLPQPYNSLQEEKCLEVKGIQEKQVFSNTKDSKQEITQNKSFFSSVKESQRDDGKGALNIVEFLRKREELQQILSRVKQFEAEPNKSGLKTFQTLLNTIPGWLISEDKREYAVHIAMENNLEKVKEEITHIKTQAEDMLVSYENIIQTAMMSSKTGKPGNKPTSLDETSSKVSNVHVSNNKNSEQKENKIAKEKTVQHQVAAHHEATVRSHVKTHQEIKLDDSNIPPPSLKTRPPSPTFITIESTARRTENPTKNELSQSPKKDSYVEPPPRRPMSQKSEIHRANTSPSPPRSRSEQLVRLKDTTAKLSKGAIPCPAATPVPIVEKRSEIIMSPATLRRQIKIETRGRDSPPTITIPVNINHAASGSFRESVDAQEEIRKVEKRATYVHKDGLNSTDHMVPDTESYDAVEIIRKVAVPPRLSEHTQRYEAANRTVQMAENFVNDPENEINRWFREFEHGPVSEAKSNRRVYAKGETNHNIQQESRTFCKEEFGLTSLGNTSFTDFSCKHPRELREKIPVKQPRICSETRSLSEHFSGMDAFESQIVESKMKTSSSHSSEAGKSGCDFKHAPPTYEDVIAGHILDISDSPKEVRKNFQKTWQESGRVFKGLGYATADASATEMRTTFQEESAFISGK" } }, { "url": "https://www.uniprot.org/uniprot/A4UGR9#A4UGR9-4", "isoform_ac": "A4UGR9-4", "locus": { "end_pos": 166903483, "strand": "-", "start_pos": 167259360, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000409043", "id": "ENST00000409043", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000386454", "id": "ENSP00000386454", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4UGR9-4|XIRP2_HUMAN Isoform 4 of Xin actin-binding repeat-containing protein 2 OS=Homo sapiens OX=9606 GN=XIRP2 PE=1 SV=2 CANONICAL=A4UGR9-1", "length": 938, "sequence": "MFPMQKGSLNLLRQKWESCDYQRSECHPRDSHCTIFQPQESKLLAPEGEVVSAPQSLDPTSLPYSTGEEMWSSKPEEKDSVDKSNNTREYGRPEVLKEDSLSSRRRIERFSIALDELRSVFEAPKSGNKPAEYGGKEVEIERSLCSPAFKSHPGSQLEDSVKDSDKKGKETSFDKMSPESGHSRIFEATAGPNKPESGFAEDSAARGEGVSDLHEVVSLKERMARYQAAVSRGDCRSFSANMMEESEMCAVPGGLAKVKKQFEDEITSSRNTFAQYQYQHQNRSEQEAIHSSQVGTSRSSQEMARNEQEGSKVQKIDVHGTEMVSHLEKHTEEVNQASQFHQYVQETVIDTPEDEEIPKVSTKLLKEQFEKSAQEKILYSDKEMTTPAKQIKKLLLQDKEICILCQKTVYPMECLVADKQNFHKSCFRCHHCNSKLSLGNYASLHGQIYCKPHFKQLFKSKGNYDEGFGHKQHKDRWNCKNQSRSVDFIPNEEPNMCKNIAENTLVPGDRNEHLDAGNSEGQRNDLRKLGERGKLKVIWPPSKEIPKKTLPFEEELKMSKPKWPPEMTTLLSPEFKSESLLEDVRTPENKGQRQDHFPFLQPYLQSTHVCQKEDVIGIKEMKMPEGRKDEKKEGRKNVQDRPSEAEDTKSNRKSAMDLNDNNNVIVQSAEKEKNEKTNQTNGAEVLQVTNTDDEMMPENHKENLNKNNNNNYVAVSYLNNCRQKTSILEFLDLLPLSSEANDTANEYEIEKLENTSRISELLGIFESEKTYSRNVLAMALKKQTDRAAAGSPVQPAPKPSLSRGLMVKGGSSIISPDTNLLNIKGSHSKSKNLHFFFSNTVKITAFSKKNENIFNCDLIDSVDQIKNMPCLDLREFGKDVKPWHVETTEAARNNENTGFDALSHECTAKPLFPRVEVQSEQLTVEEQIKRNRCYSDTE" } }, { "url": "https://www.uniprot.org/uniprot/A4UGR9#A4UGR9-5", "isoform_ac": "A4UGR9-5", "locus": {}, "sequence": { "header": "sp|A4UGR9-5|XIRP2_HUMAN Isoform 5 of Xin actin-binding repeat-containing protein 2 OS=Homo sapiens OX=9606 GN=XIRP2 PE=1 SV=2 CANONICAL=A4UGR9-1", "length": 763, "sequence": "MSPESGHSRIFEATAGPNKPESGFAEDSAARGEGVSDLHEVVSLKERMARYQAAVSRGDCRSFSANMMEESEMCAVPGGLAKVKKQFEDEITSSRNTFAQYQYQHQNRSEQEAIHSSQVGTSRSSQEMARNEQEGSKVQKIDVHGTEMVSHLEKHTEEVNQASQFHQYVQETVIDTPEDEEIPKVSTKLLKEQFEKSAQEKILYSDKEMTTPAKQIKKLLLQDKEICILCQKTVYPMECLVADKQNFHKSCFRCHHCNSKLSLGNYASLHGQIYCKPHFKQLFKSKGNYDEGFGHKQHKDRWNCKNQSRSVDFIPNEEPNMCKNIAENTLVPGDRNEHLDAGNSEGQRNDLRKLGERGKLKVIWPPSKEIPKKTLPFEEELKMSKPKWPPEMTTLLSPEFKSESLLEDVRTPENKGQRQDHFPFLQPYLQSTHVCQKEDVIGIKEMKMPEGRKDEKKEGRKNVQDRPSEAEDTKSNRKSAMDLNDNNNVIVQSAEKEKNEKTNQTNGAEVLQVTNTDDEMMPENHKENLNKNNNNNYVAVSYLNNCRQKTSILEFLDLLPLSSEANDTANEYEIEKLENTSRISELLGIFESEKTYSRNVLAMALKKQTDRAAAGSPVQPAPKPSLSRGLMVKGGSSIISPDTNLLNIKGSHSKSKNLHFFFSNTVKITAFSKKNENIFNCDLIDSVDQIKNMPCLDLREFGKDVKPWHVETTEAARNNENTGFDALSHECTAKPLFPRVEVQSEQLTVEEQIKRNRCYSDTE" } }, { "url": "https://www.uniprot.org/uniprot/A4UGR9#A4UGR9-6", "isoform_ac": "A4UGR9-6", "locus": { "end_pos": 166903483, "strand": "-", "start_pos": 167259360, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000409728", "id": "ENST00000409728", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000386619", "id": "ENSP00000386619", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4UGR9-6|XIRP2_HUMAN Isoform 6 of Xin actin-binding repeat-containing protein 2 OS=Homo sapiens OX=9606 GN=XIRP2 PE=1 SV=2 CANONICAL=A4UGR9-1", "length": 971, "sequence": "MFPMQKGSLNLLRQKWESCDYQRSECHPRDSHCTIFQPQESKLLAPEGEVVSAPQSLDPTSLPYSTGEEMWSSKPEEKDSVDKSNNTREYGRPEVLKEDSLSSRRRIERFSIALDELRSVFEAPKSGNKPAEYGGKEVEIERSLCSPAFKSHPGSQLEDSVKDSDKKGKETSFDKMSPESGHSRIFEAVFSTDQAQILRLHLHPKLTKTPKNSLKSSTYISTAGPNKPESGFAEDSAARGEGVSDLHEVVSLKERMARYQAAVSRGDCRSFSANMMEESEMCAVPGGLAKVKKQFEDEITSSRNTFAQYQYQHQNRSEQEAIHSSQVGTSRSSQEMARNEQEGSKVQKIDVHGTEMVSHLEKHTEEVNQASQFHQYVQETVIDTPEDEEIPKVSTKLLKEQFEKSAQEKILYSDKEMTTPAKQIKKLLLQDKEICILCQKTVYPMECLVADKQNFHKSCFRCHHCNSKLSLGNYASLHGQIYCKPHFKQLFKSKGNYDEGFGHKQHKDRWNCKNQSRSVDFIPNEEPNMCKNIAENTLVPGDRNEHLDAGNSEGQRNDLRKLGERGKLKVIWPPSKEIPKKTLPFEEELKMSKPKWPPEMTTLLSPEFKSESLLEDVRTPENKGQRQDHFPFLQPYLQSTHVCQKEDVIGIKEMKMPEGRKDEKKEGRKNVQDRPSEAEDTKSNRKSAMDLNDNNNVIVQSAEKEKNEKTNQTNGAEVLQVTNTDDEMMPENHKENLNKNNNNNYVAVSYLNNCRQKTSILEFLDLLPLSSEANDTANEYEIEKLENTSRISELLGIFESEKTYSRNVLAMALKKQTDRAAAGSPVQPAPKPSLSRGLMVKGGSSIISPDTNLLNIKGSHSKSKNLHFFFSNTVKITAFSKKNENIFNCDLIDSVDQIKNMPCLDLREFGKDVKPWHVETTEAARNNENTGFDALSHECTAKPLFPRVEVQSEQLTVEEQIKRNRCYSDTE" } }, { "url": "https://www.uniprot.org/uniprot/A4UGR9#A4UGR9-7", "isoform_ac": "A4UGR9-7", "locus": { "end_pos": 167210839, "strand": "-", "start_pos": 167259360, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000409605", "id": "ENST00000409605", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000386981", "id": "ENSP00000386981", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4UGR9-7|XIRP2_HUMAN Isoform 7 of Xin actin-binding repeat-containing protein 2 OS=Homo sapiens OX=9606 GN=XIRP2 PE=1 SV=2 CANONICAL=A4UGR9-1", "length": 716, "sequence": "MARYQAAVSRGDCRSFSANMMEESEMCAVPGGLAKVKKQFEDEITSSRNTFAQYQYQHQNRSEQEAIHSSQVGTSRSSQEMARNEQEGSKVQKIDVHGTEMVSHLEKHTEEVNQASQFHQYVQETVIDTPEDEEIPKVSTKLLKEQFEKSAQEKILYSDKEMTTPAKQIKKLLLQDKEICILCQKTVYPMECLVADKQNFHKSCFRCHHCNSKLSLGNYASLHGQIYCKPHFKQLFKSKGNYDEGFGHKQHKDRWNCKNQSRSVDFIPNEEPNMCKNIAENTLVPGDRNEHLDAGNSEGQRNDLRKLGERGKLKVIWPPSKEIPKKTLPFEEELKMSKPKWPPEMTTLLSPEFKSESLLEDVRTPENKGQRQDHFPFLQPYLQSTHVCQKEDVIGIKEMKMPEGRKDEKKEGRKNVQDRPSEAEDTKSNRKSAMDLNDNNNVIVQSAEKEKNEKTNQTNGAEVLQVTNTDDEMMPENHKENLNKNNNNNYVAVSYLNNCRQKTSILEFLDLLPLSSEANDTANEYEIEKLENTSRISELLGIFESEKTYSRNVLAMALKKQTDRAAAGSPVQPAPKPSLSRGLMVKGGSSIISPDTNLLNIKGSHSKSKNLHFFFSNTVKITAFSKKNENIFNCDLIDSVDQIKNMPCLDLREFGKDVKPWHVETTEAARNNENTGFDALSHECTAKPLFPRVEVQSEQLTVEEQIKRNRCYSDTE" } }, { "url": "https://www.uniprot.org/uniprot/A4UGR9#A4UGR9-8", "isoform_ac": "A4UGR9-8", "locus": { "end_pos": 166903483, "strand": "-", "start_pos": 167254123, "chromosome": "2", "evidence": [ { "url": "https://www.ensembl.org/id/ENST00000409195", "id": "ENST00000409195", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSP00000386840", "id": "ENSP00000386840", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "sp|A4UGR9-8|XIRP2_HUMAN Isoform 8 of Xin actin-binding repeat-containing protein 2 OS=Homo sapiens OX=9606 GN=XIRP2 PE=1 SV=2 CANONICAL=A4UGR9-1", "length": 3549, "sequence": "MFPMQKGSLNLLRQKWESCDYQRSECHPRDSHCTIFQPQESKLLAPEGEVVSAPQSLDPTSLPYSTGEEMWSSKPEEKDSVDKSNNTREYGRPEVLKEDSLSSRRRIERFSIALDELRSVFEAPKSGNKPAEYGGKEVEIERSLCSPAFKSHPGSQLEDSVKDSDKKGKETSFDKMSPESGHSRIFEATAGPNKPESGFAEDSAARGEGVSDLHEVVSLKERMARYQAAVSRGDCRSFSANMMEESEMCAVPGGLAKVKKQFEDEITSSRNTFAQYQYQHQNRSEQEAIHSSQVGTSRSSQEMARNEQEGSKVQKIDVHGTEMVSHLEKHTEEVNQASQFHQYVQETVIDTPEDEEIPKVSTKLLKEQFEKSAQEKILYSDKEMTTPAKQIKTESEYEETFKPSSVVSTSSTSCVSTSQRKETSTTRYSDHSVTSSTLAQINATSSGMTEEFPPPPPDVLQTSVDVTAFSQSPELPSPPRRLPVPKDVYSKQRNLYELNRLYKHIHPELRKNLEKDYISEVSEIVSSQMNSGSSVSADVQQARYVFENTNDSSQKDLNSEREYLEWDEILKGEVQSIRWIFENQPLDSINNGSPDEGDISRGIADQEIIAGGDVKYTTWMFETQPIDTLGAYSSDTVENAEKIPELARGDVCTARWMFETRPLDSMNKMHQSQEESAVTISKDITGGDVKTVRYMFETQHLDQLGQLHSVDEVHLLQLRSELKEIKGNVKRSIKCFETQPLYVIRDGSGQMLEIKTVHREDVEKGDVRTARWMFETQPLDTINKDITEIKVVRGISMEENVKGGVSKAKWLFETQPLEKIKESEEVIIEKEKIIGTDVSRKCWMFETQPLDILKEVPDADSLQREEIIGGDVQTTKHLFETLPIEALKDSPDIGKLQKITASEEEKGDVRHQKWIFETQPLEDIRKDKKEYTRTVKLEEVDRGDVKNYTHIFESNNLIKFDASHKIEVEGVTRGAVELNKSLFETTPLYAIQDPLGKYHQVKTVQQEEIVRGDVRSCRWLFETRPIDQFDESIHKFQIIRGISAQEIQTGNVKSAKWLFETQPLDSIKYFSDVEETESKTEQTRDIVKGDVKTCKWLFETQPMESLYEKVSLMTSSEEIHKGDVKTCTWLFETQPLDTIKDDSETAVKLQTVKQEEIQGGDVRTACFLFETENLDSIQGEEVKEIKPVEMDIQAGDVSSMRYKFENQSLDSISSSSEEVLKKIKTLKTEDIQKGNVLNCRWLFENQPIDKIKESQEGDECVKTVTDIQGGDVRKGCFIFETFSLDEIKEESDYISTKKTITEEVIQGDVKSYRMLFETQPLYAIQDREGSYHEVTTVKKEEVIHGDVRGTRWLFETKPLDSINKSETVYVIKSVTQEDIQKGDVSSVRYRFETQPLDQISEESHNIMPSIDHIQGGNVKTSRQFFESENFDKNNYIRTVSVNEIQKGNVKTSTWLFETHTMDELRGEGLEYENIKTVTQEDVQKGDVKQAVWLFENRTFDSIMEAHKGITKMTKEEIPPSDVKTTTWLFETTPLHEFNETRVEKIEIIGKSIKETLEDLYSQKVIQAPGIIIEADEIGDVRMAKYKLMNQASPEIQKEEIIRADLRNIMVNLLSKRDCTEREILISEEEKGNVNLTKTQLLNRSTEFHAEKEEIVKGDVQQAIKNLFSEERSVKKGILIQEDEKGDINMTIYCLLHENDGDTIEREEVIGGDVKRTIHNLLSSTSNNKISERAKIDASERGNVQFFTTCIEAGALDYLKQLHTESNETLTAKKQEGEKEIIGGDVEGTKLLLKKRQSLVERTVSETDIIPGDVHNTVKVFMTEPQSTFGKIPKEEIIKGDLTSTLNSLSQAVNQKTVTKTEEIIKGNMLATLKSLKESSHRWKESKQPDAIPGDIEKAIECLEKATNTKTEILKKELLKDDLETSLRSLKEAQRSFKEVHKEGVIKKDAKAVMAGSSGEQKTDIHQVAVQRNKNSLLQPKPGPFEPAAKWQGGADTLSQTMGKSCHGNLVEERTEVNLPKAPKGTVKIVIDREQNNDALEKSLRRLSNSHHKSNVLESGDKTGVWTDTTGEQHLRDEYMSRQLTSTVSVKNNLTTKESDRAVRELKKDDVFNSIQSAGKTVGKQQTYELRNDHQKMEGFHIKSPKKTKNIKILTDTQSSKPSPTQHPVSMPVGGTYDLSGDFQKQTLLKQETKYSNKDIKKKNINLQPMWQLLPVEQDTSNVTEMKVSEKSHNTFKATNKKRETDVHLKSQDFLMKTNTSTGLKMAMERSLNPINFNPENNVKESECPLPPPSPPPPPPSNASSEIEFPLPPPPPLMMFPEKNGFLPSLSTEKIKAEFESFPGLPLPPPPVDEKSERESSSMFLPPPPPPTPSQKPAHLLSSSAPEKHSGDFMQQYSQKEASNSQNSQAKIITGKTGVLPPPTLPKPKLPKHIKDNKNDFSPKVELATSLSDMECKITTSKDQKKVMVMTSSEHTETKQNVISKSLDERKQLSIDSANCLSHTVPGTSAPRKKQIAPLIKSHSFPESSGQQNPKPYMRKFKTPLMIAEEKYRQQKEEIEKQKQESSYYNIVKTQSQNQHITEVEKEMPLQKTNEEVSLSGIDSECTVVQPSPGSQSNARILGVCSDNQLSTTSPETVAAKRLHHVLAASEDKDKMKKEVLQSSRDIMQSKSACEIKQSHQECSTQQTQQKKYLEQLHLPQSKPISPNFKVKTIKLPTLDHTLNETDHSYESHKQQSEIDVQTFTKKQYLKTKKTEASTECSHKQSLAERHYQLPKKEKRVTVQLPTESIQKNQEDKLKMVPRKQREFSGSDRGKLPGSEEKNQGPSMIGRKEERLITERKHEHLKNKSAPKVVKQKVIDAHLDSQTQNFQQTQIQTAESKAEHKKLPQPYNSLQEEKCLEVKGIQEKQVFSNTKDSKQEITQNKSFFSSVKESQRDDGKGALNIVEFLRKREELQQILSRVKQFEAEPNKSGLKTFQTLLNTIPGWLISEDKREYAVHIAMENNLEKVKEEITHIKTQAEDMLVSYENIIQTAMMSSKTGKPGNKPTSLDETSSKVSNVHVSNNKNSEQKENKIAKEKTVQHQVAAHHEATVRSHVKTHQEIKLDDSNIPPPSLKTRPPSPTFITIESTARRTENPTKNELSQSPKKDSYVEPPPRRPMSQKSEIHRANTSPSPPRSRSEQLVRLKDTTAKLSKGAIPCPAATPVPIVEKRSEIIMSPATLRRQIKIETRGRDSPPTITIPVNINHAASGSFRESVDAQEEIRKVEKRATYVHKDGLNSTDHMVPDTESYDAVEIIRKVAVPPRLSEHTQRYEAANRTVQMAENFVNDPENEINRWFREFEHGPVSEAKSNRRVYAKGETNHNIQQESRTFCKEEFGLTSLGNTSFTDFSCKHPRELREKIPVKQPRICSETRSLSEHFSGMDAFESQIVESKMKTSSSHSSEAGKSGCDFKHAPPTYEDVIAGHILDISDSPKEVRKNFQKTWQESGRVFKGLGYATADASATEMRTTFQEESAFISEAAAPRQGNMYTLSKDSLSNGVPSGRQAEFS" } } ], "pathway": [ { "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:129446", "resource": "KEGG Pathway", "id": "hsa:129446", "name": "" } ], "function": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "annotation": "A genome-wide association study reveals 2 new susceptibility loci for atopic dermatitis, XIRP2 and DMRTA1.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "id": "NP_001073278.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "annotation": "Genetic information from this patient implies that genes involved in development and maintenance of extraocular muscles can cause congenital ocular motility disorders as well.", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "id": "NP_001073278.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "annotation": "Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "id": "NP_001073278.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "annotation": "Observational study of gene-disease association. (HuGE Navigator)", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "id": "NP_001073278.1", "database": "RefSeq" } ] }, { "url": "https://www.uniprot.org/uniprot/A4UGR9#function", "annotation": "Protects actin filaments from depolymerization.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A4UGR9#function", "id": "A4UGR9", "database": "UniProtKB" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "annotation": "Report pathogenic XIRP1/2 rare variants in arrhythmogenic disorders such as sudden unexplained nocturnal death syndrome and Brugada syndrome. Publication Status: Online-Only", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "id": "NP_001073278.1", "database": "RefSeq" } ] }, { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "annotation": "Xin and XIRP2 define a novel actin-binding motif", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001073278.1", "id": "NP_001073278.1", "database": "RefSeq" } ] } ], "orthologs": [ { "uniprot_canonical_ac": "Q4U4S6-1", "protein_name": "Xin actin-binding repeat-containing protein 2", "sequence": { "length": 3784, "sequence": "MARYQAAVSRGDTRSFSANVMEESDVCTVPGGLAKMKRQFEKDKMTSTCNAFSEYQYRHESRAEQEAIHSSQEIIRRNEQEVSKGHGTDVFKAEMMSHLEKHTEETKQASQFHQYVQETVIDSPEEEELPKVSTKILKEQFEKSAQENFLRSDKETSPPAKCMKIENDIEETLKPSSAVGTSSSYTSTRQRKETSTSSYSNHSLTSTTLAQDNGTPSGKMEEFPPPPPDVCQTPMDVTAFSQSPEFPSPPRRLPMPKDLYSKQRNLYELNRLYRHIHPELRKNLEKDYISEVSEIVSSQINSGNALSADVQKARYVFENTNDSSQKDLNSERENLEWDEILKGEVQSIRWIFENQPLDSINHGSTDEGYTSKGIADQELIAGSDVKYTTWMFETQPIDALGIPSAGTEGNTEKIPELARGDVYTARWMFETRPLDSMNKMHECQEETASTLTKDITGGDVKTVRYMFETQQLDQLGQLHSVDELNLLQLRSELKEIKGNVKRSIKCFETQPLYVIRDGSGQMLEIKTVQREDIEKGDVRTARWMFETQPLDTINKDITEIKVVRGISMEENVKGGVSRAKWLFETQPLEKIKEESGEAVLKTEAVIGTDVSKKCWMFETQPLDILKDSPDTDSVSPEERIGGDVKTTKHLFETLPIEALKDSPDIGKLQKITASEEEKGDVKHQKWVFETQRLEDIREDKKEYTRTVRLEAVDRGHVKNYTHIFESNNLIKVDASHQIEVEGVTRGTVELNKSLFETTPLYAIQDHLGKYHQVKTVQQEEIVRGDVRSCRWLFETRPIDQFDESLHKFQIIRGISAQEIQAGNVKSARWLFETQPLDSIKYFSNVEETDSKTEQSTDIVKGDVKTCKWLFETQPMESLYEKASLMTNSEDIHKGDVRTCMWLFETQPLDAIKDDSEATVKLQTVKQEEIQGGDVQTACFLFETENLDNIQGDEGKENKPLEMDIQSGDVSGMKFKFENQSLDSINCSSENVLSKIKTLKAEDIQKGNVLKCRWLFENQPIDMIKESQECDGLVKTVTDVQGGDVRKGCFIFETFSLDEIKDESDGISMRETNLGEIIKGDVKSYKMLFETQPLYAIQDHEGFYHEVTTVKKEETIHGDVRGTRWLFETKPLDSIHESEDVYVIKSVTQEDIQKGDVSSVRYRFETQPLDMISDKSHNIVPTVDYIQGGNVQMNKQLFESEGGNKKNYVRTVSVNEIQKGNVKTSTWLFETHRIDELGEESRYENIKTVTQEDVQKGDVKQAVWLFENQTLDSINELDENDTKMTKEEIPPSDVKTTTWLFETTPIHEFNKTRVEKEEIIGKSIKETLEDLYSQRVVEAPGIIIEADEVGDVRMAKYKLMNQTTPEIQKEEVIRADLGNIMMNLLSQRDCTKKEIFVSEEEKGNVNFTKTQLLNRSMEFHAEKEEIVRGDVKQAIQKLFSEERRAKKGILIQEDEKGDINMTIYCLLHENAGDKTEREDILGGDVRRTIHNLLSSASNGKISERTKIDASERGNVQFFTTCIETGALDYLKQLQTGSNESTLTASKQEGEEEIIGGDVEGTKFLLKKRQSSFERTVSETDIIPGDVRHTVKVFMTEPQSSSYKTVKDEIIKGDLKSTLNSLNQAMNQKTVAKAEEIVKDDRLAILKSLKESGDRQKEPKQSGGMSRDIGQAIECLERATNTRTEILKKELILDDLKTSLRSLKEEQCGFKEVDKQGIVKDVLPGMLGFSERPKIGIHPAAVQRDKKSLLQPVPGPFEPAIKQQAGPGTLDETTQKPCLRSLIEERTEANLPKAPKGTVKIVIDREQNNDALEKSLRKMSNSEHRAMKNVLDMSDRMGIWTESKEYLCSDDHMSKHLSATMSIKESLKSKESENMREAKDDVISSTQSVDKTFRKQQTQTCELGNDQKSRFQDSYGKNQKNIQNIEITRDFQKQALLSQEKQYSNKEMKKNEASLQPLPVGKEVHSVPGVTVSGKNHKRIQATDKRQKTDVCLESQDFLMKTNTSKELKMAMERSFNPINLHPECGIKENEDSLPPPSPPPLPPSNASSEIEFPLPPPPPLMLLPGKNESPPSSPTEKTRTEFESLSTLPLPPPPVDEKAEQECLSTTLPPPPPPTPCQPGHLLPSSVLGHHREAFLQQFSQKEALGVHLPHSQAKILTGKSPPPTLPKPKLPKRIKDKMNQYSSSGELERSLSDVEIKATLSKDQKRSMVTMSSEHRETKQDVFGKGLVGRKQLPVDSANSLSQTVPEIPAPKEKQTAPLVKSHSFPSGSEQQSPKPYMRKFKTPLMIAEEKYRQQREELEKQRQESSSHNVIKTETQHQSLSEKEEEIELQKATEAISTPRKESDFPRARPNLDSESRAVIAGECSESQLATASTLTVATERLQHVLAASEDELTLRQEGIQNSSDASQSKLACETSQSHKECKAQQTFEQHVKRLPFPQTKPSSPSFKVKTIKLSTLDHTGTETDLSSKHHTKQSEVDIQTSTEQTDKEIKKTQASIQCDDKPSVPEKYFQLPKTEKRVTIQMPKEYAEKSHKSKLQTVPKKQGIFGEFDRGNVLGREGKNQDSSVSCSKEDRLIDERKQEHLQNQRVPRSVQQKVINERLDSQMQNFQQTEIQTSRSTIECEEFSQSYNATQEKTCLKDKGKQQGQVTSNTEESKQELRQNQSAFSSVKDSQHDDGKCTINILEFLRKREELQQILSRVKQFEAESSKSGLKTFQILLNIVPVWLISEEKREYGVRVAMENNFEKVKEEITHIKTQAEEMLLQCEHVIQTAMMASQTGKQRDKPTNLNEMPLNVSNVNLSSSKCTEQKESKTVEEKLTHRQVTTHPEAATRNPVKPYQEAKGEDGKMAPPSLKTRPPSPTFITIESTARRAETSTKSELSQSPKNNRCIEPPPRRPVEHASGLPRSRTPPSPPRSRSEQLVRLKDTTARLAKGTIPCSPGTPVPIVEKRSEVVMSPATLRRQIKIESRGGDSPPTITIPVSVNHVVSGSFRESVDAQEAVKKTEKTETYVHKDKMNSVNRAMPETESYDAVEIIRKVEGPHLSEHTERFEATNQTVQRAERFLNGHENEINRWFREFENDPVFRAKTERGAYANGEINHNMKQESHTFCKEEFGLASSETANFTGFSYRHPKVPAMQPRVHSEARSLNEHFSSVDAFDSQIVGSKVATSSSRSTEAGRSGFDFKHAPPTYEDVISGHILDVADSPTNLRRNFQKTWQESERVFQRVGYETSDAHATEMSRAFQEESAFLSDKEICIICQKTVYPMECLIADKQNFHKSCFRCHHCSSKLSLGNYASLHGRIYCKPHFKQLFKSKGNYDEGFGHKQHKDRWNCKNQSSLVDFIPSGEPDAHENPTADTLLLGDLTTHPDACNSKRQDNDLRKWGDRGKLKIVWPPCQEMPKKNSPPEEEFKVNKAKWPPEVTIPVPSDFKRESLTEHVKTLESQGQEQDSVPDLQPCKHVCQKEDITGIKEIKGYEERKDEKEAKDTLKDAEGLRSKRKSGMEFNDHNAHAQSDGKEKNALVNEADSADVLQVANTDDEGGPENHRENFNNNNNNSVAVSSLNNGRQKISISERPRLLQAVSEANYYTSEYQIKNFNNASKISELLGIFESQKLSSKKVLALALERTADRGTAGSPLQLVLEPGLQQGFSVKGENLAASPDVSPLHIKGNHENNKNVHLFFSNTVKITSFSKKHNILGCDLMDSVDQLKNMSCLYLRELGKNVKCWHGETAGAARHGGKMCFDAQSQGSAAKPVFPSMQCQAQHLTVEEQIKRDRCYSDSEAD" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/19388", "id": "19388", "database": "MGI" } ], "common_name": "Mouse", "organism": "Mus musculus", "tax_id": 10090 }, { "uniprot_canonical_ac": "Q71LX6-1", "protein_name": "Xin actin-binding repeat-containing protein 2", "sequence": { "length": 3302, "sequence": "MARYQAAVSRGDTRSFSANVMEESDLCTVPGGLAKMKRQFEKDEMTSTCNAFSEYQYQHESRSEQEAIHNRQEIRRNEEEVSKGHRTDVFKAEMMSHLEKHTEETNQASQFRQYVQETVIDTPEDEEIPKVSTKILKEQFEKTAQENFLYSDKETTTPAKCIKIENDSEETLKPSSAMGTSSYTSARQSKETSTSSYSNHSLTSTILAQEKGTPSGKMEEFPPPPPDVFQTPMDVTAFSQSPEFPSPPRRLPMPRDVYSKQRNLYELNRLYRHIHPELRKNLEKDYISEVSEIVSSHINSGNSISAGVQQARYVFENTNDSSQKDLSSERENLEWDEILKGEVQSIRWIFENQPLDSINQGFTDEAYTSKGIADQELIAGGDVKYTTWMFETQPIDALGVPSAGTEENTEKIPELAKGDVCTARWMFETRPLDSMNKMHEWEDETASTFIKDITGGDVKTVRYMFETQQLDQLGQLHSVDEMNLLQLRSELKEIKGNVKRSIKCFETQPLYVIRDGSGQMLEIKTVQREDIEKGDVRTARWMFETQPLDTIKQDITEIKVVRGISMEENVKGEVGRARWLFETQPLEKIKEESGEAVLKTEAVVGIDVSKKCWMFETQPLDTLKQSPDTESVSPEERIGGDVKTTKHLLETLPIEALKDSPDVGKLQKITASEEEKGDVKHQKWVFETQRLEDIREDKKEYTQTVKLEAVDRGHVKNYTHIFESNNLIKVDASHQIEVEGVTRGTVELNKSLFETTPLYAIQDHLGKYHQVKTVQQEEIVRGDVRSCRWLFETRPIDQFDESLHKFQIIRGISAQEIQAGNVKSARWLFETQPLDSIKYFSNVEETDSKTEQSTDIVKGDVKTCKWLFETQPMESLYEKASLMTNSEDIHKGDVRTCMWLFETQPLDAIKNDSEATVKLQTVKQEEIQGGDVRTACLLFETENLDNIQGGEGKETKPVEMDIESGDVSGMKYKFENQSLDSISCSSENVLNKIKTLKIEDIQKGNVLNCRWLFENQPIDMIKENQEGDGLVKTVTDIQGGDVRKGCFIFETFSLDEIKDESDVISTRQTNTEEVIKGDVKSYKMLFETQPLYAIQDQEGFYHEVTTVKKEETIHGDVRGTRWLFETKPLDSINASEDVYIIKSVTQEDIQKGDVSSVRYRFETQPLDMISDKSHNIMPTIDHIQGGNVQMNKQLFESEGGDKKNYVRTVSINEIQKGNVKTSTWLFETHSIDELGEVSTYENIKTVTQEDVQKGDVKQAVWLFENQTLDSIKELDESDTKITKEEIPPSDVKTTTWLFETTPIHEFNETRIEKEEIIGKSIKETLEDLYSQRVVEAPGIIIEADEVGDVRMAKYKLMNQRTPEIQKEEVIRADLGNIMMNLLSQRDCTKKEIFISEEEKGNVNFTKTQLLNRSMEFHAEKEEIVRGDVKQAIQKLFSEERCAKRGILIQEDEKGDVNMTIYCLLHENAGDKTKREDILGGDVRRTIHNLLSSASNDKISERTKIDASERGNVQFFTTCIETGALDYLKQLQTGSNETLTARKQEGEEEIIGGDVEGTKFLLKKRQSSIERTVSETDIIPGDVRNTVKVFMTEPQSASFKTAKEEIVKGDLKSTLNSLNQAMNQKVVAKTEDIMKDDKAAILKSLKESGGRQKEHKQSASISSDIGQAIECLEKATNTRTEILKKELILDDLKTSLRSLKEEQYSFKEVGKQGMVKDVLGFSERQELGIHPAAVQREKKSLLQPVPGPCEPAIRQQAGPGPLDEATQKSCHRSLTEERTEANLPKAPKGTVKIVIDREQNNDALEKSLRKMSNSEHRAMKNVLDMGDRRGVWTESKECLCSDDHMSKYVSASMSRKKSLKTKESENVRESKDDVSSTQSVDKTFRKQQTQNCELGKDHQKSQFQDSYAKNQKNTQNISMSAETQSYRPDPTQHPVSNPAGETLEMTRDFQKQALIRQEKQNSNKDMRKNDMGLQPLPVGKDAHSAPGVTVSGKNHKRTQAPDKKQRIDVCLESQDFLMKTNTSKELKMAMERSFNPVNLYPDCGVKENEDALPPPSPPPPPPSNASSEIEFPLPPPPPIMLLPEKNEFPPSSPTEKSRAELESLPTLPLPPPPGDEKSDQECLPTSLPPPPPTAPSQPAHLLSSSVLEHHSEAFLQQYSRKETLDSHQLHSQAKILTGKSPPPTLPKPKLPERIKAKMSQDSPSGELERSLSDVEIKTTLSKDQKSSLVAESREHTEAKQEVFRKSLGRKQLSISSANSLSQTVPEIPAPKEKQTAPLVKSHSFPSGSEQQSPKPYMRKFKTPLMIAEEKYRQQREELEKQRRESSCHSIIKTETQHRSLSEKEKETELQKAAEAMSTPRKDSDFTRAQPNLEPKSKAVIASECSESQLSTASALTVATERLQHVLAASDDKLTLRREGTQNSSDTLQSKTACEINQSHKECRTEQTFEQHVEKLPFPQTKPISPSFKVKTIRLPALDHTLTETDLSSERRVKQSEIDVQTSTKEMNKEIKKTEVSTQCDNKQSVAEKYFQLPKTEKRVTVQMPKDYAAKSHQSKLQTVPKKHGGLGEFDRGNVLGREGKNQDSSMSSTKESRVIVERKQEHLQDQSVPRLVQQKIIGESLDSRVQNFQQTQTQTSRIEHKELSQPYSEKKCLRDKDKQQKQVSSNTDDSKQEITQKQSSFSSVRESQQDGEKCAINILEFLRKREELQQILSRVKQFEADSNKSGLKTFQTLLNIAPVWLISEEKREYGVRVAMENNLEKVKEEIIHIKTQAEEMLVHCEHVIRTAMMASQTGKQKDKPTNLNEMPLKVSNVNLSSHKGTEQKESKIVEEKLASRQVATHSEAATHNPAKTYQEAKGDDSKMAPPSLKTRPPSPTFITIESTARRAETSTKSELSQSPKNNSCVEPLPRRPMEHTSRLPRTSTSPSPPRSRSEQLVRLKDTTARLAKGTIPCSPGTPVPVVEKRSEVVMSPATLRRQIKIESRGGDSPPTITIPVSVNHHVVSGSFRESVDAQEAVKKTEKTETYVHKDKKNSVSSAMPETESYDAVEIIRKVEGPHLSEHRERFEATNQTVQMAEHFLNGHENEVNRWFREFENGPVFGAKTERRAYANGEINHNMKQESHTFCKEEFGLESSETANFTGFSYRHPREHRAKAPATQPRVHSEARALNEHFLSVDAFDSQIVESQVATSSSRSSEAGRSGFDFKHAPPTYEDVIAGHILDIADSPTNLRRNFQKTWQESERVFKSVGYETSDAHATEMSRAFQEELAFLSETVGPRQGNLHNLSKDGLSNGVPRSRPAEFS" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/19388", "id": "19388", "database": "MGI" } ], "common_name": "Rat", "organism": "Rattus norvegicus", "tax_id": 10116 } ], "interactions": [], "synthesized_glycans": [], "snv": [ { "sequence_org": "S", "alt_nt": "A", "chr_id": "2", "ref_nt": "G", "chr_pos": "167245030", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369227139", "id": "rs369227139", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs369227139", "id": "rs369227139", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs369227139#frequency_tab", "id": "rs369227139", "database": "TOPMed" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-sequon-loss" ], "sequence_mut": "N", "start_pos": 1038, "keywords": [ "ebi", "germline" ], "end_pos": 1038, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SSS->NSS)." }, { "sequence_org": "L", "alt_nt": "C", "chr_id": "2", "ref_nt": "T", "chr_pos": "167245243", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201086393", "id": "rs201086393", "database": "dbSNP" }, { "url": "https://www.ensembl.org/homo_sapiens/Variation/Explore?v=rs201086393", "id": "rs201086393", "database": "1000Genomes" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs201086393", "id": "rs201086393", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs201086393#frequency_tab", "id": "rs201086393", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs201086393", "id": "rs201086393", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "S", "start_pos": 1062, "keywords": [ "ebi", "germline" ], "end_pos": 1062, "minor_allelic_frequency": "2.0E-4", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVL->NVS)." }, { "sequence_org": "R", "alt_nt": "C", "chr_id": "2", "ref_nt": "G", "chr_pos": "167245111", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200182549", "id": "rs200182549", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs200182549", "id": "rs200182549", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs200182549#frequency_tab", "id": "rs200182549", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs200182549", "id": "rs200182549", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "T", "start_pos": 1065, "keywords": [ "ebi", "germline" ], "end_pos": 1065, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NCR->NCT)." }, { "sequence_org": "K", "alt_nt": "C", "chr_id": "2", "ref_nt": "A", "chr_pos": "167245648", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769431929", "id": "rs769431929", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769431929", "id": "rs769431929", "database": "ExAC" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs769431929", "id": "rs769431929", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "T", "start_pos": 1244, "keywords": [ "ebi", "germline" ], "end_pos": 1244, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVK->NVT)." }, { "sequence_org": "K", "alt_nt": "C", "chr_id": "2", "ref_nt": "A", "chr_pos": "167245741", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769577256", "id": "rs769577256", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs769577256", "id": "rs769577256", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs769577256#frequency_tab", "id": "rs769577256", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs769577256", "id": "rs769577256", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "T", "start_pos": 1275, "keywords": [ "ebi", "germline" ], "end_pos": 1275, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVK->NVT)." }, { "sequence_org": "K", "alt_nt": "T", "chr_id": "2", "ref_nt": "A", "chr_pos": "167245925", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373164678", "id": "rs373164678", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs373164678", "id": "rs373164678", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs373164678#frequency_tab", "id": "rs373164678", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs373164678", "id": "rs373164678", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-sequon-loss" ], "sequence_mut": "N", "start_pos": 1336, "keywords": [ "ebi", "germline" ], "end_pos": 1336, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (KMT->NMT)." }, { "sequence_org": "M", "alt_nt": "C", "chr_id": "2", "ref_nt": "T", "chr_pos": "167246218", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371974788", "id": "rs371974788", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs371974788", "id": "rs371974788", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/snp/rs371974788#frequency_tab", "id": "rs371974788", "database": "TOPMed" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs371974788", "id": "rs371974788", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "T", "start_pos": 1434, "keywords": [ "ebi", "germline" ], "end_pos": 1434, "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NIM->NIT)." }, { "sequence_org": "D", "alt_nt": "A", "chr_id": "2", "ref_nt": "G", "chr_pos": "167246241", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751610409", "id": "rs751610409", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751610409", "id": "rs751610409", "database": "ExAC" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs751610409", "id": "rs751610409", "database": "NCI-TCGA" }, { "url": "http://gnomad.broadinstitute.org/awesome?query=rs751610409", "id": "rs751610409", "database": "gnomAD" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "sequence_mut": "N", "start_pos": 1442, "keywords": [ "ebi", "germline" ], "end_pos": 1442, 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