{ "uniprot_canonical_ac": "Q2QI47-1", "uniprot_ac": "Q2QI47", "uniprot_id": "USH2A_MOUSE", "mass": { "chemical_mass": 569660.0, "monoisotopic_mass": 569660.0 }, "refseq": { "ac": "NP_067383", "name": "usherin precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067383" }, "gene_names": [ { "name": "Ush2A", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q2QI47", "id": "Q2QI47" }, { "name": "Ush2a", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q2QI47", "id": "Q2QI47" }, { "name": "A930011D15Rik; A930037M10Rik; Gm676; Gm983; Mush2a; Ushrn", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067383", "id": "NP_067383" }, { "name": "Gm676", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprot/Q2QI47", "id": "Q2QI47" }, { "name": "Ush2a", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067383", "id": "NP_067383" } ], "protein_names": [ { "name": "Usherin", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q2QI47" }, { "name": "Usher syndrome type IIa protein homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q2QI47" }, { "name": "Usher syndrome type-2A protein homolog", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q2QI47" }, { "name": "usher syndrome type-2A protein homolog; usher syndrome type IIa protein homolog; Usher syndrome 2A (autosomal recessive, mild) homolog", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067383", "id": "NP_067383" }, { "name": "usherin precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067383", "id": "NP_067383" } ], "function": [ { "annotation": "Conservation of usherin is seen at the nucleotide and amino acid level when comparing the mouse and human gene sequences.", "evidence": [ { "database": "RefSeq", "id": "NP_067383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067383" }, { "database": "PubMed", "id": "12433396", "url": "https://glygen.org/publication/PubMed/12433396" } ] }, { "annotation": "Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through Improper Phosphorylation of WHRN and WDSUB1 Recruitment.", "evidence": [ { "database": "RefSeq", "id": "NP_067383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067383" }, { "database": "PubMed", "id": "37066759", "url": "https://glygen.org/publication/PubMed/37066759" } ] }, { "annotation": "Expressed in the cells of the outer nuclear layer of the retina and in cochlea.", "evidence": [ { "database": "RefSeq", "id": "NP_067383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067383" }, { "database": "PubMed", "id": "12160733", "url": "https://glygen.org/publication/PubMed/12160733" } ] }, { "annotation": "Involved in hearing and vision as member of the USH2 complex (PubMed:20502675). In the inner ear, required for the maintenance of hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells (PubMed:20502675, PubMed:24334608). In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport (PubMed:20502675).", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47#function" }, { "database": "PubMed", "id": "24334608", "url": "https://glygen.org/publication/PubMed/24334608" }, { "database": "PubMed", "id": "20502675", "url": "https://glygen.org/publication/PubMed/20502675" } ] }, { "annotation": "Peripheral Anomalies in USH2A Cause Central Auditory Anomalies in a Mouse Model of Usher Syndrome and CAPD. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_067383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067383" }, { "database": "PubMed", "id": "33498833", "url": "https://glygen.org/publication/PubMed/33498833" } ] }, { "annotation": "The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1. Publication Status: Online-Only", "evidence": [ { "database": "RefSeq", "id": "NP_067383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067383" }, { "database": "PubMed", "id": "36810733", "url": "https://glygen.org/publication/PubMed/36810733" } ] }, { "annotation": "USH2A is a Meissner's corpuscle protein necessary for normal vibration sensing in mice and humans.", "evidence": [ { "database": "RefSeq", "id": "NP_067383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067383" }, { "database": "PubMed", "id": "33288907", "url": "https://glygen.org/publication/PubMed/33288907" } ] } ], "disease": [ { "disease_id": "DOID:0050439", "recommended_name": { "id": "DOID:0050439", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050439", "name": "Usher syndrome", "description": "A syndrome characterized by a combination of hearing loss and visual impairment." }, "synonyms": [ { "id": "MONDO:0700087", "resource": "MONDO", "url": 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"description": "" } ], "evidence": [ { "id": "0110827", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0110827" } ] }, { "disease_id": "DOID:0110838", "recommended_name": { "id": "DOID:0110838", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110838", "name": "Usher syndrome type 2A", "description": "An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41." }, "synonyms": [ { "id": "DOID:0110838", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110838", "name": "USH2A", "description": "" }, { "id": "DOID:0110838", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0110838", "name": "Usher syndrome type IIA", "description": 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"ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "N4765", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs233859441", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs233859441" } ], "glycoeffect": [ "n-glyco-sequon-loss", "o-glyco-site-loss" ], "start_pos": 4767, "end_pos": 4767, "sequence_org": "S", "sequence_mut": "R", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-loss (NSS->NSR).", "chr_id": "1", "chr_pos": "188676988", "ref_nt": "C", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "S4767", "keywords": [ "ebi", "germline" ] }, { "evidence": [ { "id": "rs3391147977", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3391147977" } ], "glycoeffect": [ "n-glyco-sequon-gain" ], "start_pos": 577, "end_pos": 577, "sequence_org": "H", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (HAS->NAS).", "chr_id": "1", "chr_pos": "188111206", "ref_nt": "A", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "H577", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "common_name": "Mouse" } ], "gene": [ { "name": "Ush2A", "url": "https://www.uniprot.org/uniprot/Q2QI47", "locus": {} } ], "crossref": [ { "id": "ENSMUSG00000026609", "url": "https://bgee.org/?page=gene&gene_id=ENSMUSG00000026609", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00055", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00055", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00063", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00063", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "cd00110", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00110", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "22283", "url": "https://www.ncbi.nlm.nih.gov/gene/22283", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR001791", "url": "https://www.ebi.ac.uk/interpro/entry/IPR001791", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002049", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002049", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003961", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003961", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR006558", "url": "https://www.ebi.ac.uk/interpro/entry/IPR006558", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR008211", "url": "https://www.ebi.ac.uk/interpro/entry/IPR008211", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013320", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013320", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036116", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036116", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "mmu:22283", "url": "https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+mmu:22283", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "1341292", "url": "http://www.informatics.jax.org/marker/MGI:1341292", "database": "MGI", "categories": [ "Organism-specific" ] }, { "id": "LYMDGML", "url": "https://omabrowser.org/oma/group/LYMDGML/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "90222at2759", "url": "http://www.orthodb.org/?query=90222at2759", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR46957", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46957", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR46957:SF4", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR46957:SF4", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF00041", "url": "http://pfam.xfam.org/family/PF00041", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00053", "url": "http://pfam.xfam.org/family/PF00053", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00054", "url": "http://pfam.xfam.org/family/PF00054", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF00055", "url": "http://pfam.xfam.org/family/PF00055", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF02210", "url": "http://pfam.xfam.org/family/PF02210", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF13385", "url": "http://pfam.xfam.org/family/PF13385", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PR_Q2QI47", "url": "http://purl.obolibrary.org/obo/PR_Q2QI47", "database": "PRO", "categories": [ "Protein" ] }, { "id": "NP_067383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067383", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "F6TQ19", "url": "https://www.uniprot.org/uniprot/F6TQ19", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "F6TQ19-1", "url": "https://www.uniprot.org/uniprot/F6TQ19-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q2QI47-1", "url": "https://www.uniprot.org/uniprot/Q2QI47-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q2QI47-2", "url": "https://www.uniprot.org/uniprot/Q2QI47-2", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q2QI47-3", "url": "https://www.uniprot.org/uniprot/Q2QI47-3", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MHYLALSPGFLCYTIKTLILAYLASVLVLAASQGVFPRLENVGAFRKVSTVPTHATCGFPGPSTFCRSPVAAEHVQLCTERLCIQDCPYRSASPLYTALLEGLRSCIPADDGDLHPYSRSSSVSFMFGSHQNCPSLRAPRLAAELTLAVWLKLEQGGTMCVIEKTVDGQIVFKVTISEKETMFYYRTVNGLQPPIKVMTPGRILMKKWIHLTVQVHQTAISFFVDGLEENSTAFDTRTLHDSVTDSVSSVIQVGQSLNGSEQFVGRMQDFRLYNVSLTNREILEVFSGDFPHLHIQPHCRCPGSHPRVHPSVQQYCIPNGAGDTPEHRMSRLNPEAHPLSFINDDDVATSWISHVFTNITQLYEGVAISIDLENGQYQVLKVITQFSSLQPVAIRIQRKKADSSPWEDWQYFARNCSVWGMKDNEDLENPNSVNCLQLPDFIPFSHGNVTFDLLTSGQKHRPGYNDFYNSSVLQEFMRATQIRLHFHGQYYPAGHTVDWRHQYYAVDEIIVSGRCQCHGHAETCDRTRRPYRCLCSPHSFTEGPQCDRCSPLYNDKPFRSGDNVNAFNCKPCQCHGHASSCHYDASVDPFPLEHNRGGGGVCDDCQHHTTGRHCESCQDYFYRPVGADPAAPDACKLCDCNRAGTRNGSLHCDPIGGQCDCKRRVSGRQCLQCQDGFYDLQALDPDGCRPCNCNPSGTVDGDITCHQNSGQCSCKANVIGLRCNRCNFGFKFLQSFNGDGCEPCQCNLHGSVNQLCDPLSGQCACKKEAKGLKCDSCRENFYGLPWSACEVCDCSKAGSQPGTVCDTETGQCVCKPNVGGRQCSQCKAGYFNLYQNDSHLCLTCNCEKMGTVNGSLRCDKSTGQCPCKLGVTGLRCHQCKPHRFNLTMDNPQGCQACDCDSLGTLPGSMCDPISGQCLCLPHRQGRRCEQCQPGFYSSPSNATGCLPCLCHTAGAVSHICNSVTGQCSCHDPSTTGRSCHQCQESYFRFDPLTGRCRPCHCHVAGASNGTCDAVTGQCFCKEFVTGSKCDTCVPGASHLDVNNLLGCSKTPSQQPPPRGWVQSSSTINVSWSPPECPNAHWLTYTLFRNGSEIYTTEDEHPYYTQYFLDTSLSPHTAYSYYIETSNVHSSTRSIPVIYETKPEVSEGHLNLTHIIPVGSDSITLTWTGLSNSSDPVAKYVLSCTPVDSTEPCVSYEGPETSATIWNLVPFTQYCFSVQGCTNESCFYSLPIIVTTAQAPPQTQGPPTVWKISPTELRIEWSPPVDSNGIIISYELYMRRWLSTEESLVFESHGLVSSHSALQSVNPSKNLLQQPQASTFISGLEPHTEYAFRVLAVNMAGRVSSAWASERTGESVPVFMAPPSVSPLSPHSLSVSWEKPAENFTRGEIIGYKISMVSEHFPLHDVPVMCSKMVHFAKSQDQSYIVRGLEPYRTYSFTVSLCDSVGCVTSALGSGQTLAAAPAQLRPPMVTGVNSTTVHIRWLPPAGVNGPPPLYHLERKKSSLPAATAAVTKGTRFVGHGYCRFPRTAHADFIGIKASFRTRVPEGLILLALSPGDQEEYFTLQLKNGRPYFLYNSQGTLVEVTPTDDPSQGYRDGEWHEIIAVRHQAFGQITLDGQYTGSSSSLNGSSVTGGYTGLFVGGVPQGHSVLQKRLEIIQRGFVGCLKDVFIMKGYSPSGTWLPLDWQSSEEQVNVHPSWEGCPTNLEEGVQFLGAGFLELPSDTFHAAKDFEISLKFQTDQLNGLLLFIHNTEGPDFLAVELKRGLLSFKFNSSLVFTRVDLRLGLADCDGKWNTVSIKKEGSVVSVRVNALKKSTSQAGGQPLLVNSPVYLGGIPRELQDAYRHLTLEPGFRGCVKEVAFARGVVVNLASVSSRAVRVNQDGCLSSDSTVNCGGNDSILVYRGSQQSVYESGLQPFTEYLYRVTASHEGGAVSSDWSRGRTLGTAPQSVPTPSRAQSINGSSVEVAWNEPAVVKGVLEKYVLKAYSEDSSQPRVPSASTELHDTSTHSGVLIGLHPFHSYTVTLTACSRAGCTESSQALSISTPQEAPQEVQAPVAVALPNSLSFFWSLPRQANGIITQYSLYVDGRLVYTGKGQNYTVTDLRVFAAYEIIVGACTQAGCTNSSQVILHTAQLPPEQVDPPGLTVLDSRTIHVRWKQPRQLNGILERYILYILNPIHNSTMWSVVYNSTEKLQAHVLHHLSPGGLYLIRLRVCTGGGCTTSEPSQALMEETIPEGVPAPRAHSYSPDSFNISWTEPEYPNGVITTYELYLDDTLIHNSSGLSCHAYGFDPGSLHTFQVQACTAKGCALGPLVGNRTLEAPPEGVVNVLVKPEGSREAHVRWDAPAHPNGRLTYSVHFTGSFYADQAGDNYTLLSGTKTIRGIEGSRLWVLVDGLVPCSHYMVQVNASNSRGSVLSDPVSVEMPPGAPDGLLSPRLAAAAPTSLQVVWSTPARNNAPGSPRYQLQMRPGPSTHGRLELFPIPSASLSYEVTGLQPFTVYEFRLVATNGFGTAYSAWTPLMTTEDKPGPIDAPILINVKARMLSVIWRQPAKCNGAITHYNIYLHGRLYLTVSGRVTNYTVVPLHPYKAYHFQVEACTSQGCSKSPSSETVWTLPGNPEGIPSPQLFPYTPTSIIVTWQPSAHLDLLVENVTIERRVKGKKEVRNLVTLARSQAMKFIDNDPALRPWTRYEYRVLGSTLDGGTNSSAWVEVTTRPCRPSGVQPPTVRVLAPDTVEVSWKAPLMQNGDILSYEIRMPEPLIKMTNMSSIMLSHLVKHLIPFTNYSVTIVACSGGNGYLAGCTESPPTLATTHPAPPQELAPLSVILLSESDVGISWQPPSKPNGPNLRYELLRCKIQQPLASNPPEDLNLWHNIYSGTRWFYKDKGLSRFTTYEYKLFVHNSVGFTPSREVTVTTLAGSPERGATVTASILNHTAIDVRWKKPTFQDLQGDVEYYTLFWSSGTSEESLKIFPDVDFHVIGQLSPNVEYQVFLLVFNGVHAINSTVVHVTMWEEEPQGMLPPEVVIINSTAVRVIWTSPSNPNAVVTESSVYVNNKLYKTGTDAPGSFVLEDLSPFTIYDIQVEVCTKDACVKSNGTQVSTAEDTPSDISIPVIRGITSRSLQIDWTTPANPNGIILGYDVLRKTWRPCSETQKLTDKPRDELCKAVKCQYPGKVCGHTCYSPGTKVCCDGLLYDPQPGYSCCEDKYIALSPNATGVCCGGRMWEAQPDHQCCSGHYARILPGEICCPDERHNRVSVGFGDACCGTMPYATSGSQVCCAGRLQDGYRQQCCGGEMVSQDFQCCGGGEEGMVYSYLPGMLCCGQDYVNMSETICCSASSGESKAHVRKDDPTPVKCCGTELSPESQRCCDGVGYNPLKYVCSDEISAGMAMKETRVCATICPATMKATAHCGRCDFNATTHICTVMRGPLNPTGKKAVEGLCSAAEEIVHSGDVNTHSFIDRDLKPSTVYEYRISAWNSYGRGFSQSVRASTREDVPEGVKAPRWARTGKHEDVIFLQWEEPMQSNGPIIHYILFRDGRERFQGTALSFTDTQGIQPLQEYSYQLKACTAAGCAVSCKVVAATTQRSPENVPPPNITAQSSETLHLSWSVPEKMKDAIKAYQLWLDGKGLIYTDTSDRRQHTVTGLQPYTNYSFTLAVCTSVGCTSSEPCVGQTLQAAPQGVWVTPRHIIINSTTVELYWNPPERPNGLISQYQLRRNGSLLLVGGRDNQSFTDSNLEPGSRYIYKLEARTGGGSSWSEDYLVQMPLWTPEDIHPPCNVTVLGSDSIFVAWPTPGNLLPKIPVEYSILLSGGSVTLLVFSVRHRQSAHLKNLSPFTQYEIRIQACQNGGCGVSPGTYVRTLEAAPVGLMPPLLKALGSSCIEVKWMPPTRPNGIITSYVVHRRPADTEEESLLFVWSEGALEFTDDTGTLRPFTLYEYRVRAWNSQGAVDSPWSTIQTLEAPPRGLPAPRVQATSAHSAMLNWTEPEAPNGLISQYHVIYQERPDAAAPGSSTVHAFTVTGTSRQAHLFGLEPFTTYHIGVVAVNSAGKVSSPWTLIKTLESAPSGLMNFTVEQREKGRALLLQWSEPVKTNGVIKAYNIFNDGVLEYSGLGRQFLFRRLAPFTLYTLILEACTTAGCAHSVPQPLWTEEAPPDTQMAPTIQSVGPTNVRLHWSQPASPNGKIIHYEVIRRRSEEEDWGNTTWQADGNTVFTEYNTQGNAWVYNDTGLQPWRQYAYRICAWNSAGHTCSSWNVVRTLQAPPDGLSPPEISYVSMSPLQLLISWLPPRHSNGVIQGYRLQRDGVLPALNFNASTFSYMDSQLLPFSTYSYAILACTGGGCCTSEPTNITTPEVPPSEVSPPVLWDISAHQMNVSWSPPSIPNGKIVKYLLQCDGEEHLAGQGLSFLLSNLQPSTQYNISLVACTSGGCTASRTTSAWTKEAPPENMDPPTLHITGPESIEITWTPPRNPHGLIRSYELRRDGAIVYVGLETRYHDFTLAPGVEYSYSVTATNSRGSVLSPLVKGQTSPSAPSGLQPPKLHSGDALELLADWDPPVRTNGKIINYTLFVREMFEGKTRAMSINTTHSSFGTRSLTVKHLKPFHRYEVRVQACTALGCTSSEWTSTQTSEVPPLRQPAPHLEVQTATGGFQPIVAVWWAGPLQPNGKIICFELYRRQVAAWPGTSSSLLIYNGSFRSFMDSELLPFTEYEYQVWAVNSAGKAASNWTRCRTGPAPPEGLQAPTFHTVSSTRAVVNISVPSRPNGNISLFRVFSNSSGTHVTLSEGTATQQTLHDLSPFTTYTIGVEACTCFNCCSRGPTAELRTHPAPPSGLSPPQVQTLGSRMASVHWTPPLLPNGVIHSYELQLQRACPPDSAPRCPPSHTERKYWGPGHRASLAGLQPNTAYGVQVVAYNEAGSTASGWTNFSTKKEMPQYQALFSVDSNASMVWVDWSGTFLLNGHLKEYVVTDGGRRVYSGLDTTLYIPRMVDKIFFFQVTCTTDIGSVKTPLVQYDAATGSGLVLTTPGEKKGAGTKSTEFYSELWFIMVMAVVGLILLAIFLSLILQRKIHKEPCIRERPPLVPLQKRMTPLSVYPPGETHVGLADTRLPRSGTPMSIRSSQSVSVLRIPSQSQLSHAYSQSSLHRSVSQLMDMADKKVVTEDSLWETIMGHSSGLYVDEEELMNAIKGFSSVTKEHTAFTDTHL", "length": 5193, "header": "sp|Q2QI47-1|USH2A_MOUSE Isoform 1 of Usherin OS=Mus musculus OX=10090 GN=Ush2A PE=1 SV=2 CANONICAL=Q2QI47-1" }, "isoforms": [ { "isoform_ac": "F6TQ19-1", "url": "", "sequence": { "sequence": "XFFFQVTCTTDIGSVKTPLVQYDAATGSGLVLTTPGEKKGAGTKSTEFYSELWFIMVMAVVGLILLAIFLSLILQRKIHKEPCIRERPPLVPLQKRMTPLSVYPPGETHVFDSVADISDVSSNVTLKSYTMHFEGLADTRLPRSGTPMSIRSSQSVSVLRIPSQSQLSHAYSQSSLHRSVSQLMDMADKKVVTEDSLWETIMGHSSGLYVDEEELMNAIKGFSSVTKEHTAFTDTHL", "length": 237, "header": "tr|F6TQ19-1|F6TQ19_MOUSE Computationally mapped isoform of Usherin OS=Mus musculus OX=10090 GN=Ush2a PE=4 SV=1 CANONICAL=Q2QI47-1" }, "locus": { "chromosome": "1", "start_pos": 188697123, "end_pos": 188685941, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000127077.2", "url": "https://www.ensembl.org/id/ENSMUST00000127077.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000121033.2", "url": "https://www.ensembl.org/id/ENSMUSP00000121033.2" } ] } }, { "isoform_ac": "Q2QI47-1", "url": "", "sequence": { "sequence": "MHYLALSPGFLCYTIKTLILAYLASVLVLAASQGVFPRLENVGAFRKVSTVPTHATCGFPGPSTFCRSPVAAEHVQLCTERLCIQDCPYRSASPLYTALLEGLRSCIPADDGDLHPYSRSSSVSFMFGSHQNCPSLRAPRLAAELTLAVWLKLEQGGTMCVIEKTVDGQIVFKVTISEKETMFYYRTVNGLQPPIKVMTPGRILMKKWIHLTVQVHQTAISFFVDGLEENSTAFDTRTLHDSVTDSVSSVIQVGQSLNGSEQFVGRMQDFRLYNVSLTNREILEVFSGDFPHLHIQPHCRCPGSHPRVHPSVQQYCIPNGAGDTPEHRMSRLNPEAHPLSFINDDDVATSWISHVFTNITQLYEGVAISIDLENGQYQVLKVITQFSSLQPVAIRIQRKKADSSPWEDWQYFARNCSVWGMKDNEDLENPNSVNCLQLPDFIPFSHGNVTFDLLTSGQKHRPGYNDFYNSSVLQEFMRATQIRLHFHGQYYPAGHTVDWRHQYYAVDEIIVSGRCQCHGHAETCDRTRRPYRCLCSPHSFTEGPQCDRCSPLYNDKPFRSGDNVNAFNCKPCQCHGHASSCHYDASVDPFPLEHNRGGGGVCDDCQHHTTGRHCESCQDYFYRPVGADPAAPDACKLCDCNRAGTRNGSLHCDPIGGQCDCKRRVSGRQCLQCQDGFYDLQALDPDGCRPCNCNPSGTVDGDITCHQNSGQCSCKANVIGLRCNRCNFGFKFLQSFNGDGCEPCQCNLHGSVNQLCDPLSGQCACKKEAKGLKCDSCRENFYGLPWSACEVCDCSKAGSQPGTVCDTETGQCVCKPNVGGRQCSQCKAGYFNLYQNDSHLCLTCNCEKMGTVNGSLRCDKSTGQCPCKLGVTGLRCHQCKPHRFNLTMDNPQGCQACDCDSLGTLPGSMCDPISGQCLCLPHRQGRRCEQCQPGFYSSPSNATGCLPCLCHTAGAVSHICNSVTGQCSCHDPSTTGRSCHQCQESYFRFDPLTGRCRPCHCHVAGASNGTCDAVTGQCFCKEFVTGSKCDTCVPGASHLDVNNLLGCSKTPSQQPPPRGWVQSSSTINVSWSPPECPNAHWLTYTLFRNGSEIYTTEDEHPYYTQYFLDTSLSPHTAYSYYIETSNVHSSTRSIPVIYETKPEVSEGHLNLTHIIPVGSDSITLTWTGLSNSSDPVAKYVLSCTPVDSTEPCVSYEGPETSATIWNLVPFTQYCFSVQGCTNESCFYSLPIIVTTAQAPPQTQGPPTVWKISPTELRIEWSPPVDSNGIIISYELYMRRWLSTEESLVFESHGLVSSHSALQSVNPSKNLLQQPQASTFISGLEPHTEYAFRVLAVNMAGRVSSAWASERTGESVPVFMAPPSVSPLSPHSLSVSWEKPAENFTRGEIIGYKISMVSEHFPLHDVPVMCSKMVHFAKSQDQSYIVRGLEPYRTYSFTVSLCDSVGCVTSALGSGQTLAAAPAQLRPPMVTGVNSTTVHIRWLPPAGVNGPPPLYHLERKKSSLPAATAAVTKGTRFVGHGYCRFPRTAHADFIGIKASFRTRVPEGLILLALSPGDQEEYFTLQLKNGRPYFLYNSQGTLVEVTPTDDPSQGYRDGEWHEIIAVRHQAFGQITLDGQYTGSSSSLNGSSVTGGYTGLFVGGVPQGHSVLQKRLEIIQRGFVGCLKDVFIMKGYSPSGTWLPLDWQSSEEQVNVHPSWEGCPTNLEEGVQFLGAGFLELPSDTFHAAKDFEISLKFQTDQLNGLLLFIHNTEGPDFLAVELKRGLLSFKFNSSLVFTRVDLRLGLADCDGKWNTVSIKKEGSVVSVRVNALKKSTSQAGGQPLLVNSPVYLGGIPRELQDAYRHLTLEPGFRGCVKEVAFARGVVVNLASVSSRAVRVNQDGCLSSDSTVNCGGNDSILVYRGSQQSVYESGLQPFTEYLYRVTASHEGGAVSSDWSRGRTLGTAPQSVPTPSRAQSINGSSVEVAWNEPAVVKGVLEKYVLKAYSEDSSQPRVPSASTELHDTSTHSGVLIGLHPFHSYTVTLTACSRAGCTESSQALSISTPQEAPQEVQAPVAVALPNSLSFFWSLPRQANGIITQYSLYVDGRLVYTGKGQNYTVTDLRVFAAYEIIVGACTQAGCTNSSQVILHTAQLPPEQVDPPGLTVLDSRTIHVRWKQPRQLNGILERYILYILNPIHNSTMWSVVYNSTEKLQAHVLHHLSPGGLYLIRLRVCTGGGCTTSEPSQALMEETIPEGVPAPRAHSYSPDSFNISWTEPEYPNGVITTYELYLDDTLIHNSSGLSCHAYGFDPGSLHTFQVQACTAKGCALGPLVGNRTLEAPPEGVVNVLVKPEGSREAHVRWDAPAHPNGRLTYSVHFTGSFYADQAGDNYTLLSGTKTIRGIEGSRLWVLVDGLVPCSHYMVQVNASNSRGSVLSDPVSVEMPPGAPDGLLSPRLAAAAPTSLQVVWSTPARNNAPGSPRYQLQMRPGPSTHGRLELFPIPSASLSYEVTGLQPFTVYEFRLVATNGFGTAYSAWTPLMTTEDKPGPIDAPILINVKARMLSVIWRQPAKCNGAITHYNIYLHGRLYLTVSGRVTNYTVVPLHPYKAYHFQVEACTSQGCSKSPSSETVWTLPGNPEGIPSPQLFPYTPTSIIVTWQPSAHLDLLVENVTIERRVKGKKEVRNLVTLARSQAMKFIDNDPALRPWTRYEYRVLGSTLDGGTNSSAWVEVTTRPCRPSGVQPPTVRVLAPDTVEVSWKAPLMQNGDILSYEIRMPEPLIKMTNMSSIMLSHLVKHLIPFTNYSVTIVACSGGNGYLAGCTESPPTLATTHPAPPQELAPLSVILLSESDVGISWQPPSKPNGPNLRYELLRCKIQQPLASNPPEDLNLWHNIYSGTRWFYKDKGLSRFTTYEYKLFVHNSVGFTPSREVTVTTLAGSPERGATVTASILNHTAIDVRWKKPTFQDLQGDVEYYTLFWSSGTSEESLKIFPDVDFHVIGQLSPNVEYQVFLLVFNGVHAINSTVVHVTMWEEEPQGMLPPEVVIINSTAVRVIWTSPSNPNAVVTESSVYVNNKLYKTGTDAPGSFVLEDLSPFTIYDIQVEVCTKDACVKSNGTQVSTAEDTPSDISIPVIRGITSRSLQIDWTTPANPNGIILGYDVLRKTWRPCSETQKLTDKPRDELCKAVKCQYPGKVCGHTCYSPGTKVCCDGLLYDPQPGYSCCEDKYIALSPNATGVCCGGRMWEAQPDHQCCSGHYARILPGEICCPDERHNRVSVGFGDACCGTMPYATSGSQVCCAGRLQDGYRQQCCGGEMVSQDFQCCGGGEEGMVYSYLPGMLCCGQDYVNMSETICCSASSGESKAHVRKDDPTPVKCCGTELSPESQRCCDGVGYNPLKYVCSDEISAGMAMKETRVCATICPATMKATAHCGRCDFNATTHICTVMRGPLNPTGKKAVEGLCSAAEEIVHSGDVNTHSFIDRDLKPSTVYEYRISAWNSYGRGFSQSVRASTREDVPEGVKAPRWARTGKHEDVIFLQWEEPMQSNGPIIHYILFRDGRERFQGTALSFTDTQGIQPLQEYSYQLKACTAAGCAVSCKVVAATTQRSPENVPPPNITAQSSETLHLSWSVPEKMKDAIKAYQLWLDGKGLIYTDTSDRRQHTVTGLQPYTNYSFTLAVCTSVGCTSSEPCVGQTLQAAPQGVWVTPRHIIINSTTVELYWNPPERPNGLISQYQLRRNGSLLLVGGRDNQSFTDSNLEPGSRYIYKLEARTGGGSSWSEDYLVQMPLWTPEDIHPPCNVTVLGSDSIFVAWPTPGNLLPKIPVEYSILLSGGSVTLLVFSVRHRQSAHLKNLSPFTQYEIRIQACQNGGCGVSPGTYVRTLEAAPVGLMPPLLKALGSSCIEVKWMPPTRPNGIITSYVVHRRPADTEEESLLFVWSEGALEFTDDTGTLRPFTLYEYRVRAWNSQGAVDSPWSTIQTLEAPPRGLPAPRVQATSAHSAMLNWTEPEAPNGLISQYHVIYQERPDAAAPGSSTVHAFTVTGTSRQAHLFGLEPFTTYHIGVVAVNSAGKVSSPWTLIKTLESAPSGLMNFTVEQREKGRALLLQWSEPVKTNGVIKAYNIFNDGVLEYSGLGRQFLFRRLAPFTLYTLILEACTTAGCAHSVPQPLWTEEAPPDTQMAPTIQSVGPTNVRLHWSQPASPNGKIIHYEVIRRRSEEEDWGNTTWQADGNTVFTEYNTQGNAWVYNDTGLQPWRQYAYRICAWNSAGHTCSSWNVVRTLQAPPDGLSPPEISYVSMSPLQLLISWLPPRHSNGVIQGYRLQRDGVLPALNFNASTFSYMDSQLLPFSTYSYAILACTGGGCCTSEPTNITTPEVPPSEVSPPVLWDISAHQMNVSWSPPSIPNGKIVKYLLQCDGEEHLAGQGLSFLLSNLQPSTQYNISLVACTSGGCTASRTTSAWTKEAPPENMDPPTLHITGPESIEITWTPPRNPHGLIRSYELRRDGAIVYVGLETRYHDFTLAPGVEYSYSVTATNSRGSVLSPLVKGQTSPSAPSGLQPPKLHSGDALELLADWDPPVRTNGKIINYTLFVREMFEGKTRAMSINTTHSSFGTRSLTVKHLKPFHRYEVRVQACTALGCTSSEWTSTQTSEVPPLRQPAPHLEVQTATGGFQPIVAVWWAGPLQPNGKIICFELYRRQVAAWPGTSSSLLIYNGSFRSFMDSELLPFTEYEYQVWAVNSAGKAASNWTRCRTGPAPPEGLQAPTFHTVSSTRAVVNISVPSRPNGNISLFRVFSNSSGTHVTLSEGTATQQTLHDLSPFTTYTIGVEACTCFNCCSRGPTAELRTHPAPPSGLSPPQVQTLGSRMASVHWTPPLLPNGVIHSYELQLQRACPPDSAPRCPPSHTERKYWGPGHRASLAGLQPNTAYGVQVVAYNEAGSTASGWTNFSTKKEMPQYQALFSVDSNASMVWVDWSGTFLLNGHLKEYVVTDGGRRVYSGLDTTLYIPRMVDKIFFFQVTCTTDIGSVKTPLVQYDAATGSGLVLTTPGEKKGAGTKSTEFYSELWFIMVMAVVGLILLAIFLSLILQRKIHKEPCIRERPPLVPLQKRMTPLSVYPPGETHVGLADTRLPRSGTPMSIRSSQSVSVLRIPSQSQLSHAYSQSSLHRSVSQLMDMADKKVVTEDSLWETIMGHSSGLYVDEEELMNAIKGFSSVTKEHTAFTDTHL", "length": 5193, "header": "sp|Q2QI47-1|USH2A_MOUSE Isoform 1 of Usherin OS=Mus musculus OX=10090 GN=Ush2A PE=1 SV=2 CANONICAL=Q2QI47-1" }, "locus": { "chromosome": "1", "start_pos": 188697122, "end_pos": 187995231, "strand": "-", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000060479", "url": "https://www.ensembl.org/id/ENSMUST00000060479" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000050454", "url": "https://www.ensembl.org/id/ENSMUSP00000050454" } ] } }, { "isoform_ac": "Q2QI47-2", "url": "", "sequence": { "sequence": "MHYLALSPGFLCYTIKTLILAYLASVLVLAASQGVFPRLENVGAFRKVSTVPTHATCGFPGPSTFCRSPVAAEHVQLCTERLCIQDCPYRSASPLYTALLEGLRSCIPADDGDLHPYSRSSSVSFMFGSHQNCPSLRAPRLAAELTLAVWLKLEQGGTMCVIEKTVDGQIVFKVTISEKETMFYYRTVNGLQPPIKVMTPGRILMKKWIHLTVQVHQTAISFFVDGLEENSTAFDTRTLHDSVTDSVSSVIQVGQSLNGSEQFVGRMQDFRLYNVSLTNREILEVFSGDFPHLHIQPHCRCPGSHPRVHPSVQQYCIPNGAGDTPEHRMSRLNPEAHPLSFINDDDVATSWISHVFTNITQLYEGVAISIDLENGQYQVLKVITQFSSLQPVAIRIQRKKADSSPWEDWQYFARNCSVWGMKDNEDLENPNSVNCLQLPDFIPFSHGNVTFDLLTSGQKHRPGYNDFYNSSVLQEFMRATQIRLHFHGQYYPAGHTVDWRHQYYAVDEIIVSGRCQCHGHAETCDRTRRPYRCLCSPHSFTEGPQCDRCSPLYNDKPFRSGDNVNAFNCKPCQCHGHASSCHYDASVDPFPLEHNRGGGGVCDDCQHHTTGRHCESCQDYFYRPVGADPAAPDACKLCDCNRAGTRNGSLHCDPIGGQCDCKRRVSGRQCLQCQDGFYDLQALDPDGCRPCNCNPSGTVDGDITCHQNSGQCSCKANVIGLRCNRCNFGFKFLQSFNGDGCEPCQCNLHGSVNQLCDPLSGQCACKKEAKGLKCDSCRENFYGLPWSACEVCDCSKAGSQPGTVCDTETGQCVCKPNVGGRQCSQCKAGYFNLYQNDSHLCLTCNCEKMGTVNGSLRCDKSTGQCPCKLGVTGLRCHQCKPHRFNLTMDNPQGCQACDCDSLGTLPGSMCDPISGQCLCLPHRQGRRCEQCQPGFYSSPSNATGCLPCLCHTAGAVSHICNSVTGQCSCHDPSTTGRSCHQCQESYFRFDPLTGRCRPCHCHVAGASNGTCDAVTGQCFCKEFVTGSKCDTCVPGASHLDVNNLLGCSKTPSQQPPPRGWVQSSSTINVSWSPPECPNAHWLTYTLFRNGSEIYTTEDEHPYYTQYFLDTSLSPHTAYSYYIETSNVHSSTRSIPVIYETKPEVSEGHLNLTHIIPVGSDSITLTWTGLSNSSDPVAKYVLSCTPVDSTEPCVSYEGPETSATIWNLVPFTQYCFSVQGCTNESCFYSLPIIVTTAQAPPQTQGPPTVWKISPTELRIEWSPPVDSNGIIISYELYMRRWLSTEESLVFESHGLVSSHSALQSVNPSKNLLQQPQASTFISGLEPHTEYAFRVLAVNMAGRVSSAWASERTGESVPVFMAPPSVSPLSPHSLSVSWEKPAENFTRGEIIGYKISMVSEHFPLHDVPVMCSKMVHFAKSQDQSYIVRGLEPYRTYSFTVSLCDSVGCVTSALGSGQTLAAGK", "length": 1461, "header": "sp|Q2QI47-2|USH2A_MOUSE Isoform 2 of Usherin OS=Mus musculus OX=10090 GN=Ush2A PE=1 SV=2 CANONICAL=Q2QI47-1" }, "locus": {} }, { "isoform_ac": "Q2QI47-3", "url": "", "sequence": { "sequence": "MHYLALSPGFLCYTIKTLILAYLASVLVLAASQGVFPRLENVGAFRKVSTVPTHATCGFPGPSTFCRSPVAAEHVQLCTERLCIQDCPYRSASPLYTALLEGLRSCIPADDGDLHPYSRSSSVSFMFGSHQNCPSLRAPRLAAELTLAVWLKLEQGGTMCVIEKTVDGQIVFKVTISEKETMFYYRTVNGLQPPIKVMTPGRILMKKWIHLTVQVHQTAISFFVDGLEENSTAFDTRTLHDSVTDSVSSVIQVGQSLNGSEQFVGRMQDFRLYNVSLTNREILEVFSGDFPHLHIQPHCRCPGSHPRVHPSVQQYCIPNGAGDTPEHRMSRLNPEAHPLSFINDDDVATSWISHVFTNITQLYEGVAISIDLENGQYQVLKVITQFSSLQPVAIRIQRKKADSSPWEDWQYFARNCSVWGMKDNEDLENPNSVNCLQLPDFIPFSHGNVTFDLLTSGQKHRPGYNDFYNSSVLQEFMRATQIRLHFHGQYYPAGHTVDWRHQYYAVDEIIVSGRCQCHGHAETCDRTRRPYRCLCSPHSFTEGPQCDRCSPLYNDKPFRSGDNVNAFNCKPCQCHGHASSCHYDASVDPFPLEHNRGGGGVCDDCQHHTTGRHCESCQDYFYRPVGADPAAPDACKLCDCNRAGTRNGSLHCDPIGGQCDCKRRVSGRQCLQCQDGFYDLQALDPDGCRPCNCNPSGTVDGDITCHQNSGQCSCKANVIGLRCNRCNFGFKFLQSFNGDGCEPCQCNLHGSVNQLCDPLSGQCACKKEAKGLKCDSCRENFYGLPWSACEVCDCSKAGSQPGTVCDTETGQCVCKPNVGGRQCSQCKAGYFNLYQNDSHLCLTCNCEKMGTVNGSLRCDKSTGQCPCKLGVTGLRCHQCKPHRFNLTMDNPQGCQACDCDSLGTLPGSMCDPISGQCLCLPHRQGRRCEQCQPGFYSSPSNATGCLPCLCHTAGAVSHICNSVTGQCSCHDPSTTGRSCHQCQESYFRFDPLTGRCRPCHCHVAGASNGTCDAVTGQCFCKEFVTGSKCDTCVPGASHLDVNNLLGCSKTPSQQPPPRGWVQSSSTINVSWSPPECPNAHWLTYTLFRNGSEIYTTEDEHPYYTQYFLDTSLSPHTAYSYYIETSNVHSSTRSIPVIYETKPEVSEGHLNLTHIIPVGSDSITLTWTGLSNSSDPVAKYVLSCTPVDSTEPCVSYEGPETSATIWNLVPFTQYCFSVQGCTNESCFYSLPIIVTTAQAPPQTQGPPTVWKISPTELRIEWSPPVDSNGIIISYELYMRRWLSTEESLVFESHGLVSSHSALQSVNPSKNLLQQPQASTFISGLEPHTEYAFRVLAVNMAGRVSSAWASERTGESVPVFMAPPSVSPLSPHSLSVSWEKPAENFTRGEIIGYKISMVSEHFPLHDVPVMCSKMVHFAKSQDQSYIVRGLEPYRTYSFTVSLCDSVGCVTSALGSGQTLAAAPAQLRPPMVTGVNSTTVHIRWLPPAGVNGPPPLYHLERKKSSLPAATAAVTKGTRFVGHGYCRFPRTAHADFIGIKASFRTRVPEGLILLALSPGDQEEYFTLQLKNGRPYFLYNSQGTLVEVTPTDDPSQGYRDGEWHEIIAVRHQAFGQITLDGQYTGSSSSLNGSSVTGGYTGLFVGGVPQGHSVLQKRLEIIQRGFVGCLKDVFIMKGYSPSGTWLPLDWQSSEEQVNVHPSWEGCPTNLEEGVQFLGAGFLELPSDTFHAAKDFEISLKFQTDQLNGLLLFIHNTEGPDFLAVELKRGLLSFKFNSSLVFTRVDLRLGLADCDGKWNTVSIKKEGSVVSVRVNALKKSTSQAGGQPLLVNSPVYLGGIPRELQDAYRHLTLEPGFRGCVKEVAFARGVVVNLASVSSRAVRVNQDGCLSSDSTVNCGGNDSILVYRGSQQSVYESGLQPFTEYLYRVTASHEGGAVSSDWSRGRTLGTAPQSVPTPSRAQSINGSSVEVAWNEPAVVKGVLEKYVLKAYSEDSSQPRVPSASTELHDTSTHSGVLIGLHPFHSYTVTLTACSRAGCTESSQALSISTPQEAPQEVQAPVAVALPNSLSFFWSLPRQANGIITQYSLYVDGRLVYTGKGQNYTVTDLRVFAAYEIIVGACTQAGCTNSSQVILHTAQLPPEQVDPPGLTVLDSRTIHVRWKQPRQLNGILERYILYILNPIHNSTMWSVVYNSTEKLQAHVLHHLSPGGLYLIRLRVCTGGGCTTSEPSQALMEETIPEGVPAPRAHSYSPDSFNISWTEPEYPNGVITTYELYLDDTLIHNSSGLSCHAYGFDPGSLHTFQVQACTAKGCALGPLVGNRTLEAPPEGVVNVLVKPEGSREAHVRWDAPAHPNGRLTYSVHFTGSFYADQAGDNYTLLSGTKTIRGIEGSRLWVLVDGLVPCSHYMVQVNASNSRGSVLSDPVSVEMPPGAPDGLLSPRLAAAAPTSLQVVWSTPARNNAPGSPRYQLQMRPGPSTHGRLELFPIPSASLSYEVTGLQPFTVYEFRLVATNGFGTAYSAWTPLMTTEDKPGPIDAPILINVKARMLSVIWRQPAKCNGAITHYNIYLHGRLYLTVSGRVTNYTVVPLHPYKAYHFQVEACTSQGCSKSPSSETVWTLPGNPEGIPSPQLFPYTPTSIIVTWQPSAHLDLLVENVTIERRVKGKKEVRNLVTLARSQAMKFIDNDPALRPWTRYEYRVLGSTLDGGTNSSAWVEVTTRPCRPSGVQPPTVRVLAPDTVEVSWKAPLMQNGDILSYEIRMPEPLIKMTNMSSIMLSHLVKHLIPFTNYSVTIVACSGGNGYLAGCTESPPTLATTHPAPPQELAPLSVILLSESDVGISWQPPSKPNGPNLRYELLRCKIQQPLASNPPEDLNLWHNIYSGTRWFYKDKGLSRFTTYEYKLFVHNSVGFTPSREVTVTTLAGSPERGATVTASILNHTAIDVRWKKPTFQDLQGDVEYYTLFWSSGTSEESLKIFPDVDFHVIGQLSPNVEYQVFLLVFNGVHAINSTVVHVTMWEEEPQGMLPPEVVIINSTAVRVIWTSPSNPNAVVTESSVYVNNKLYKTGTDAPGSFVLEDLSPFTIYDIQVEVCTKDACVKSNGTQVSTAEDTPSDISIPVIRGITSRSLQIDWTTPANPNGIILGYDVLRKTWRPCSETQKLTDKPRDELCKAVKCQYPGKVCGHTCYSPGTKVCCDGLLYDPQPGYSCCEDKYIALSPNATGVCCGGRMWEAQPDHQCCSGHYARILPGEICCPDERHNRVSVGFGDACCGTMPYATSGSQVCCAGRLQDGYRQQCCGGEMVSQDFQCCGGGEEGMVYSYLPGMLCCGQDYVNMSETICCSASSGESKAHVRKDDPTPVKCCGTELSPESQRCCDGVGYNPLKYVCSDEISAGMAMKETRVCATICPATMKATAHCGRCDFNATTHICTVMRGPLNPTGKKAVEGLCSAAEEIVHSGDVNTHSFIDRDLKPSTVYEYRISAWNSYGRGFSQSVRASTREDVPEGVKAPRWARTGKHEDVIFLQWEEPMQSNGPIIHYILFRDGRERFQGTALSFTDTQGIQPLQEYSYQLKACTAAGCAVSCKVVAATTQRSPENVPPPNITAQSSETLHLSWSVPEKMKDAIKAYQLWLDGKGLIYTDTSDRRQHTVTGLQPYTNYSFTLAVCTSVGCTSSEPCVGQTLQAAPQGVWVTPRHIIINSTTVELYWNPPERPNGLISQYQLRRNGSLLLVGGRDNQSFTDSNLEPGSRYIYKLEARTGGGSSWSEDYLVQMPLWTPEDIHPPCNVTVLGSDSIFVAWPTPGNLLPKIPVEYSILLSGGSVTLLVFSVRHRQSAHLKNLSPFTQYEIRIQACQNGGCGVSPGTYVRTLEAAPVGLMPPLLKALGSSCIEVKWMPPTRPNGIITSYVVHRRPADTEEESLLFVWSEGALEFTDDTGTLRPFTLYEYRVRAWNSQGAVDSPWSTIQTLEAPPRGLPAPRVQATSAHSAMLNWTEPEAPNGLISQYHVIYQERPDAAAPGSSTVHAFTVTGTSRQAHLFGLEPFTTYHIGVVAVNSAGKVSSPWTLIKTLESAPSGLMNFTVEQREKGRALLLQWSEPVKTNGVIKAYNIFNDGVLEYSGLGRQFLFRRLAPFTLYTLILEACTTAGCAHSVPQPLWTEEAPPDTQMAPTIQSVGPTNVRLHWSQPASPNGKIIHYEVIRRRSEEEDWGNTTWQADGNTVFTEYNTQGNAWVYNDTGLQPWRQYAYRICAWNSAGHTCSSWNVVRTLQAPPDGLSPPEISYVSMSPLQLLISWLPPRHSNGVIQGYRLQRDGVLPALNFNASTFSYMDSQLLPFSTYSYAILACTGGGCCTSEPTNITTPEVPPSEVSPPVLWDISAHQMNVSWSPPSIPNGKIVKYLLQCDGEEHLAGQGLSFLLSNLQPSTQYNISLVACTSGGCTASRTTSAWTKEAPPENMDPPTLHITGPESIEITWTPPRNPHGLIRSYELRRDGAIVYVGLETRYHDFTLAPGVEYSYSVTATNSRGSVLSPLVKGQTSPSAPSGLQPPKLHSGDALELLADWDPPVRTNGKIINYTLFVREMFEGKTRAMSINTTHSSFGTRSLTVKHLKPFHRYEVRVQACTALGCTSSEWTSTQTSEVPPLRQPAPHLEVQTATGGFQPIVAVWWAGPLQPNGKIICFELYRRQVAAWPGTSSSLLIYNGSFRSFMDSELLPFTEYEYQVWAVNSAGKAASNWTRCRTGPAPPEGLQAPTFHTVSSTRAVVNISVPSRPNGNISLFRVFSNSSGTHVTLSEGTATQQTLHDLSPFTTYTIGVEACTCFNCCSRGPTAELRTHPAPPSGLSPPQVQTLGSRMASVHWTPPLLPNGVIHSYELQLQRACPPDSAPRCPPSHTERKYWGPGHRASLAGLQPNTAYGVQVVAYNEAGSTASGWTNFSTKKEMPQYQALFSVDSNASMVWVDWSGTFLLNGHLKEYVVTDGGRRVYSGLDTTLYIPRMVDKIFFFQVTCTTDIGSVKTPLVQYDAATGSGLVLTTPGEKKGAGTKSTEFYSELWFIMVMAVVGLILLAIFLSLILQRKIHKEPCIRERPPLVPLQKRMTPLSVYPPGETHVFDSVADISDVSSNVTLKSYTMHFEGLADTRLPRSGTPMSIRSSQSVSVLRIPSQSQLSHAYSQSSLHRSVSQLMDMADKKVVTEDSLWETIMGHSSGLYVDEEELMNAIKGFSSVTKEHTAFTDTHL", "length": 5217, "header": "sp|Q2QI47-3|USH2A_MOUSE Isoform 3 of Usherin OS=Mus musculus OX=10090 GN=Ush2A PE=1 SV=2 CANONICAL=Q2QI47-1" }, "locus": {} } ], "glycosylation": [ { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1008, "start_aa": "Asn", "end_pos": 1008, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1008", "evidence": [ { "id": "Q2QI47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q2QI47#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 1068, "start_aa": "Asn", "end_pos": 1068, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn1068", "evidence": [ { "id": "Q2QI47", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q2QI47#ptm_processing" } ] 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Syndrome and CAPD.", "journal": "Genes", "date": "2021", "authors": "Perrino PA, Newbury DF, Fitch RH", "evidence": [ { "database": "RefSeq", "id": "NP_067383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067383" } ], "reference": [ { "type": "PubMed", "id": "33498833", "url": "https://glygen.org/publication/PubMed/33498833" } ] }, { "title": "The usherin mutation c.2299delG leads to its mislocalization and disrupts interactions with whirlin and VLGR1.", "journal": "Nature communications", "date": "2023-02-21", "authors": "Tebbe Lars, Mwoyosvi Maggie L, Crane Ryan, Makia Mustafa S, Kakakhel Mashal, Cosgrove Dominic, Al-Ubaidi Muayyad R, Naash Muna I", "evidence": [ { "database": "RefSeq", "id": "NP_067383", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_067383" } ], "reference": [ { "type": "PubMed", "id": "36810733", "url": "https://glygen.org/publication/PubMed/36810733" } ] }, { "title": "Deafness-Associated ADGRV1 Mutation Impairs USH2A Stability through Improper 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"MNCPVLSLGSGFLFQVIEMLIFAYFASISLTESRGLFPRLENVGAFKKVSIVPTQAVCGLPDRSTFCHSSAAAESIQFCTQRFCIQDCPYRSSHPTYTALFSAGLSSCITPDKNDLHPNAHSNSASFIFGNHKSCFSSPPSPKLMASFTLAVWLKPEQQGVMCVIEKTVDGQIVFKLTISEKETMFYYRTVNGLQPPIKVMTLGRILVKKWIHLSVQVHQTKISFFINGVEKDHTPFNARTLSGSITDFASGTVQIGQSLNGLEQFVGRMQDFRLYQVALTNREILEVFSGDLLRLHAQSHCRCPGSHPRVHPLAQRYCIPNDAGDTADNRVSRLNPEAHPLSFVNDNDVGTSWVSNVFTNITQLNQGVTISVDLENGQYQVFYIIIQFFSPQPTEIRIQRKKENSLDWEDWQYFARNCGAFGMKNNGDLEKPDSVNCLQLSNFTPYSRGNVTFSILTPGPNYRPGYNNFYNTPSLQEFVKATQIRFHFHGQYYTTETAVNLRHRYYAVDEITISGRCQCHGHADNCDTTSQPYRCLCSQESFTEGLHCDRCLPLYNDKPFRQGDQVYAFNCKPCQCNSHSKSCHYNISVDPFPFEHFRGGGGVCDDCEHNTTGRNCELCKDYFFRQVGADPSAIDVCKPCDCDTVGTRNGSILCDQIGGQCNCKRHVSGRQCNQCQNGFYNLQELDPDGCSPCNCNTSGTVDGDITCHQNSGQCKCKANVIGLRCDHCNFGFKFLRSFNDVGCEPCQCNLHGSVNKFCNPHSGQCECKKEAKGLQCDTCRENFYGLDVTNCKACDCDTAGSLPGTVCNAKTGQCICKPNVEGRQCNKCLEGNFYLRQNNSFLCLPCNCDKTGTINGSLLCNKSTGQCPCKLGVTGLRCNQCEPHRYNLTIDNFQHCQMCECDSLGTLPGTICDPISGQCLCVPNRQGRRCNQCQPGFYISPGNATGCLPCSCHTTGAVNHICNSLTGQCVCQDASIAGQRCDQCKDHYFGFDPQTGRCQPCNCHLSGALNETCHLVTGQCFCKQFVTGSKCDACVPSASHLDVNNLLGCSKTPFQQPPPRGQVQSSSAINLSWSPPDSPNAHWLTYSLLRDGFEIYTTEDQYPYSIQYFLDTDLLPYTKYSYYIETTNVHGSTRSVAVTYKTKPGVPEGNLTLSYIIPIGSDSVTLTWTTLSNQSGPIEKYILSCAPLAGGQPCVSYEGHETSATIWNLVPFAKYDFSVQACTSGGCLHSLPITVTTAQAPPQRLSPPKMQKISSTELHVEWSPPAELNGIIIRYELYMRRLRSTKETTSEESRVFQSSGWLSPHSFVESANENALKPPQTMTTITGLEPYTKYEFRVLAVNMAGSVSSAWVSERTGESAPVFMIPPSVFPLSSYSLNISWEKPADNVTRGKVVGYDINMLSEQSPQQSIPMAFSQLLHTAKSQELSYTVEGLKPYRIYEFTITLCNSVGCVTSASGAGQTLAAAPAQLRPPLVKGINSTTIHLRWFPPEELNGPSPIYQLERRESSLPALMTTMMKGIRFIGNGYCKFPSSTHPVNTDFTGIKASFRTKVPEGLIVFAASPGNQEEYFALQLKKGRLYFLFDPQGSPVEVTTTNDHGKQYSDGKWHEIIAIRHQAFGQITLDGIYTGSSAILNGSTVIGDNTGVFLGGLPRSYTILRKDPEIIQKGFVGCLKDVHFMKNYNPSAIWEPLDWQSSEEQINVYNSWEGCPASLNEGAQFLGAGFLELHPYMFHGGMNFEISFKFRTDQLNGLLLFVYNKDGPDFLAMELKSGILTFRLNTSLAFTQVDLLLGLSYCNGKWNKVIIKKEGSFISASVNGLMKHASESGDQPLVVNSPVYVGGIPQELLNSYQHLCLEQGFGGCMKDVKFTRGAVVNLASVSSGAVRVNLDGCLSTDSAVNCRGNDSILVYQGKEQSVYEGGLQPFTEYLYRVIASHEGGSVYSDWSRGRTTGAAPQSVPTPSRVRSLNGYSIEVTWDEPVVRGVIEKYILKAYSEDSTRPPRMPSASAEFVNTSNLTGILTGLLPFKNYAVTLTACTLAGCTESSHALNISTPQEAPQEVQPPVAKSLPSSLLLSWNPPKKANGIITQYCLYMDGRLIYSGSEENYIVTDLAVFTPHQFLLSACTHVGCTNSSWVLLYTAQLPPEHVDSPVLTVLDSRTIHIQWKQPRKISGILERYVLYMSNHTHDFTIWSVIYNSTELFQDHMLQYVLPGNKYLIKLGACTGGGCTVSEASEALTDEDIPEGVPAPKAHSYSPDSFNVSWTEPEYPNGVITSYGLYLDGILIHNSSELSYRAYGFAPWSLHSFRVQACTAKGCALGPLVENRTLEAPPEGTVNVFVKTQGSRKAHVRWEAPFRPNGLLTHSVLFTGIFYVDPVGNNYTLLNVTKVMYSGEETNLWVLIDGLVPFTNYTVQVNISNSQGSLITDPITIAMPPGAPDGVLPPRLSSATPTSLQVVWSTPARNNAPGSPRYQLQMRSGDSTHGFLELFSNPSASLSYEVSDLQPYTEYMFRLVASNGFGSAHSSWIPFMTAEDKPGPVVPPILLDVKSRMMLVTWQHPRKSNGVITHYNIYLHGRLYLRTPGNVTNCTVMHLHPYTAYKFQVEACTSKGCSLSPESQTVWTLPGAPEGIPSPELFSDTPTSVIISWQPPTHPNGLVENFTIERRVKGKEEVTTLVTLPRSHSMRFIDKTSALSPWTKYEYRVLMSTLHGGTNSSAWVEVTTRPSRPAGVQPPVVTVLEPDAVQVTWKPPLIQNGDILSYEIHMPDPHITLTNVTSAVLSQKVTHLIPFTNYSVTIVACSGGNGYLGGCTESLPTYVTTHPTVPQNVGPLSVIPLSESYVVISWQPPSKPNGPNLRYELLRRKIQQPLASNPPEDLNRWHNIYSGTQWLYEDKGLSRFTTYEYMLFVHNSVGFTPSREVTVTTLAGLPERGANLTASVLNHTAIDVRWAKPTVQDLQGEVEYYTLFWSSATSNDSLKILPDVNSHVIGHLKPNTEYWIFISVFNGVHSINSAGLHATTCDGEPQGMLPPEVVIINSTAVRVIWTSPSNPNGVVTEYSIYVNNKLYKTGMNVPGSFILRDLSPFTIYDIQVEVCTIYACVKSNGTQITTVEDTPSDIPTPTIRGITSRSLQIDWVSPRKPNGIILGYDLLWKTWYPCAKTQKLVQDQSDELCKAVRCQKPESICGHICYSSEAKVCCNGVLYNPKPGHRCCEEKYIPFVLNSTGVCCGGRIQEAQPNHQCCSGYYARILPGEVCCPDEQHNRVSVGIGDSCCGRMPYSTSGNQICCAGRLHDGHGQKCCGRQIVSNDLECCGGEEGVVYNRLPGMFCCGQDYVNMSDTICCSASSGESKAHIKKNDPVPVKCCETELIPKSQKCCNGVGYNPLKYVCSDKISTGMMMKETKECRILCPASMEATEHCGRCDFNFTSHICTVIRGSHNSTGKASIEEMCSSAEETIHTGSVNTYSYTDVNLKPYMTYEYRISAWNSYGRGLSKAVRARTKEDVPQGVSPPTWTKIDNLEDTIVLNWRKPIQSNGPIIYYILLRNGIERFRGTSLSFSDKEGIQPFQEYSYQLKACTVAGCATSSKVVAATTQGVPESILPPSITALSAVALHLSWSVPEKSNGVIKEYQIRQVGKGLIHTDTTDRRQHTVTGLQPYTNYSFTLTACTSAGCTSSEPFLGQTLQAAPEGVWVTPRHIIINSTTVELYWSLPEKPNGLVSQYQLSRNGNLLFLGGSEEQNFTDKNLEPNSRYTYKLEVKTGGGSSASDDYIVQTPMSTPEEIYPPYNITVIGPYSIFVAWIPPGILIPEIPVEYNVLLNDGSVTPLAFSVGHHQSTLLENLTPFTQYEIRIQACQNGSCGVSSRMFVKTPEAAPMDLNSPVLKALGSACIEIKWMPPEKPNGIIINYFIYRRPAGIEEESVLFVWSEGALEFMDEGDTLRPFTLYEYRVRACNSKGSVESLWSLTQTLEAPPQDFPAPWAQATSAHSVLLNWTKPESPNGIISHYRVVYQERPDDPTFNSPTVHAFTVKGTSHQAHLYGLEPFTTYRIGVVAANHAGEILSPWTLIQTLESSPSGLRNFIVEQKENGRALLLQWSEPMRTNGVIKTYNIFSDGFLEYSGLNRQFLFRRLDPFTLYTLTLEACTRAGCAHSAPQPLWTDEAPPDSQLAPTVHSVKSTSVELSWSEPVNPNGKIIRYEVIRRCFEGKAWGNQTIQADEKIVFTEYNTERNTFMYNDTGLQPWTQCEYKIYTWNSAGHTCSSWNVVRTLQAPPEGLSPPVISYVSMNPQKLLISWIPPEQSNGIIQSYRLQRNEMLYPFSFDPVTFNYTDEELLPFSTYSYALQACTSGGCSTSKPTSITTLEAAPSEVSPPDLWAVSATQMNVCWSPPTVQNGKITKYLVRYDNKESLAGQGLCLLVSHLQPYSQYNFSLVACTNGGCTASVSKSAWTMEALPENMDSPTLQVTGSESIEITWKPPRNPNGQIRSYELRRDGTIVYTGLETRYRDFTLTPGVEYSYTVTASNSQGGILSPLVKDRTSPSAPSGMEPPKLQARGPQEILVNWDPPVRTNGDIINYTLFIRELFERETKIIHINTTHNSFGMQSYIVNQLKPFHRYEIRIQACTTLGCASSDWTFIQTPEIAPLMQPPPHLEVQMAPGGFQPTVSLLWTGPLQPNGKVLYYELYRRQIATQPRKSNPVLIYNGSSTSFIDSELLPFTEYEYQVWAVNSAGKAPSSWTWCRTGPAPPEGLRAPTFHVISSTQAVVNISAPGKPNGIVSLYRLFSSSAHGAETVLSEGMATQQTLHGLQAFTNYSIGVEACTCFNCCSKGPTAELRTHPAPPSGLSSPQIGTLASRTASFRWSPPMFPNGVIHSYELQFHVACPPDSALPCTPSQIETKYTGLGQKASLGGLQPYTTYKLRVVAHNEVGSTASEWISFTTQKELPQYRAPFSVDSNLSVVCVNWSDTFLLNGQLKEYVLTDGGRRVYSGLDTTLYIPRTADKTFFFQVICTTDEGSVKTPLIQYDTSTGLGLVLTTPGKKKGSRSKSTEFYSELWFIVLMAMLGLILLAIFLSLILQRKIHKEPYIRERPPLVPLQKRMSPLNVYPPGENHMGLADTKIPRSGTPVSIRSNRSACVLRIPSQNQTSLTYSQGSLHRSVSQLMDIQDKKVLMDNSLWEAIMGHNSGLYVDEEDLMNAIKDFSSVTKERTTFTDTHL", "length": 5202 }, "evidence": [ { "id": "45234013", "url": "http://www.informatics.jax.org/homology/45234013", "database": "MGI" }, { "id": "Q2QI47", "url": "https://omabrowser.org/oma/group/Q2QI47/", "database": "OMA" } ], "common_name": "Human" } ], "go_annotation": { "categories": [ { "name": "Biological Process", "total": 13, "go_terms": [ { "name": "inner ear auditory receptor cell differentiation", "id": "GO:0042491", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042491", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "maintenance of animal organ identity", "id": "GO:0048496", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048496", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "visual perception", "id": "GO:0007601", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007601", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "photoreceptor cell maintenance", "id": "GO:0045494", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045494", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "animal organ morphogenesis", "id": "GO:0009887", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009887", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "establishment of protein localization", "id": "GO:0045184", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045184", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "sensory perception of sound", "id": "GO:0007605", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007605", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "tissue development", "id": "GO:0009888", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009888", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "establishment of localization in cell", "id": "GO:0051649", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0051649", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "response to stimulus", "id": "GO:0050896", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050896", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "inner ear receptor cell differentiation", "id": "GO:0060113", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060113", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "sensory perception of light stimulus", "id": "GO:0050953", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0050953", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "hair cell differentiation", "id": "GO:0035315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035315", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" } ] }, { "name": "Cellular Component", "total": 16, "go_terms": [ { "name": "extracellular region", "id": "GO:0005576", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005576", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "apical plasma membrane", "id": "GO:0016324", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016324", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "photoreceptor inner segment", "id": "GO:0001917", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001917", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "basement membrane", "id": "GO:0005604", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005604", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "ciliary basal body", "id": "GO:0036064", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036064", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "photoreceptor connecting cilium", "id": "GO:0032391", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032391", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "stereocilia ankle link complex", "id": "GO:0002142", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002142", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "periciliary membrane compartment", "id": "GO:1990075", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990075", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "USH2 complex", "id": "GO:1990696", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1990696", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "stereocilium bundle", "id": "GO:0032421", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0032421", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "stereocilium membrane", "id": "GO:0060171", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060171", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "stereocilia ankle link", "id": "GO:0002141", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0002141", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" } ] }, { "name": "Molecular Function", "total": 3, "go_terms": [ { "name": "identical protein binding", "id": "GO:0042802", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "collagen binding", "id": "GO:0005518", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005518", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" }, { "name": "myosin binding", "id": "GO:0017022", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0017022", "evidence": [ { "database": "UniProtKB", "id": "Q2QI47", "url": "https://www.uniprot.org/uniprot/Q2QI47" } ], "pmid": "" } ] } ] }, "pro_annotation": [], "site_annotation": [ { "start_pos": 1008, "end_pos": 1010, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1068, "end_pos": 1070, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1089, "end_pos": 1091, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1150, "end_pos": 1152, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1171, "end_pos": 1173, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1222, "end_pos": 1224, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1382, "end_pos": 1384, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1473, "end_pos": 1475, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1626, "end_pos": 1628, "annotation": "n_glycosylation_sequon" }, { "start_pos": 1770, "end_pos": 1772, "annotation": 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