{ "uniprot_canonical_ac": "A0A0G2JXT8-1", "ptm_annotation": [], "sequence": { "header": "tr|A0A0G2JXT8-1|A0A0G2JXT8_RAT Isoform 1 of Filamin B OS=Rattus norvegicus OX=10116 GN=Flnb PE=1 SV=1 CANONICAL=A0A0G2JXT8-1", "length": 2602, "sequence": "MPVTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVNKRIGNLQTDLSDGLRLIALLEVLSQKRMHHKYHQRPTFRQMKLENVSVALEFLDHESIKLVSIDSKAIVDGNLKLILGLVWTLILHYSISMPVWEDEGDDDAKKQTPKQRLLGWIQNKIPYLPITNFNQNWQDGKALGALVDSCAPGLCPDWESWDPRKPVDNAREAMQQADDWLGVPQVITPEEIIHPDVDEHSVMTYLSQFPKAKLKPGAPLKPKLNPKKARAYGRGIESTGNMVKQPAKFTVDTISAGQGDVMVFVEDPEGNKEEARVTPDSDKNKTYSVEYLPKVTGLHKVIVLFAGQHISKSPFEVNVDKAQGDASKVTAKGPGLETTGNIANKPTYFDIYTAGAGVGDIGVEVEDPQGKNSVELLVEDRGNQVYRCVYKPLQPGPHVVKVSFAGDAIPKSPFGVQIGEACNPNACRASGRGLQPKGVRIRETADFKVDTKAAGSGELAVTVKGPKGLEELVKQKGFLDGVYSFEYYPSTPGKYSIAVTWGGHHIPKSPFEVQVGPEAGMQKVRAWGPGLHGGIVGRSADFVVESIGSEVGTLGFAIEGPSQAKIEYDDQNDGSCDVKYWPKEPGEYAVHIMCDDEDIKDSPYMAFIHPATGDYNPDLVQAYGPGLEKTGCTINNPAEFIVDPKDAGNAPLKILAQDGEGQPIDIQMKSRMDGTYVCSYTPVKAIKHTIAVVWGGVNIPHSPYRVNIGQGSHPQKVKVFGPGVERSGLKANEPTHFTVDCTEAGEGDVSVGIKCDARVLSDDEEDVDFDIIHNANDTFTVKYVPPAPGRYTIKVLFASEEIPASPFRVKVDPSHDASKVKAEGPGLSKAGVENGKPTHFTVHTKGAGKAPLNVQFSSPVPGEAVKDLDIIDNYDYSHTVKYTPTQQGNMQVLVTYGGDPIPKSPFTVGVAAPLDLSKIKINGLENRVEVGKDQEFAIDTNGAGGQGKLDVTILSPSRKVVPCLVAPVAGRECSTAKFIPREEGLFAVDVTYDGHPVPGSPYTVEASLPPDPTKVKAHGPGLEGGLVGKPAEFTIDTKGAGTGGLGLTVEGPCEAKIECSDNGDGTCSVSYLPTKPGEYFVNILFEEVHIPGSPFKADIEMPFDPSKVVASGPGLEHGKVGEPGILCVDCSEAGPGTLGLEAVSDSGAKAEVSIQNNKDGSYAVTYVPLTAGMYTLTMKYGGELVPQFPTWVKVEPTVDTSGIKAFGPGIEGKDVFREATTDFTVDARPLTQVGGDHIKAHIANPSGASTECFVKDNADGTYQVEYTPFEKGFHVVEVTYDDAPIPNSPFKVAVNEGCQPSRVHAQGPGLKEAFTNKPNVFTVVTRGAGIGGLGITVEGPSESKINCRDNKDGSCSAEYIPFAPGDYDVNITYGGVHIPGSPFRVPSKDVVDPSKVKIAGPGLSSCVRACIPQSFTVDTSKAGLAPLEVRVMGPRGLVEPVDVVDNGDGTHTVTYTPSQEGPYIVSVKYADEEIPRSPFKVKVLPTYDASKVTASGPGLSAYGVPASLPVEFAIDARDAGEGLLAVQITDQEGKPQRATVHDNKDGTYAVTYIPDKTGRYMIGVTYGGDNIPLSPYRIRATQTGDASKCLATGPGIAPTVKTGEEVGFVVDAKTAGKGKVTCVILTPDGTEAEADVIENEDGTYDIFYTAAKPGTYVIYVRFGGVDIPNSPFTVMATDGEVTAMEEAPVNACPPGFRPWVTEEAYVPVSDMNGLGFKPFDLVIPFAVRKGEITGQVHMPSGKKATPEIVDNKDGTVTVRYAPTEVGLHEMHIKYMGSHIPESPLQFYVNYPNSGSVSAYGPGLVYGVANKTATFTIVTEDAGEGGLDLAIEGPSKAEISCIDNKDGTCTVTYLPTLPGDYSILVKYNDKHIPGSPFTAKITDDSRRCSQVKLGSAADFLLDISETDLSTLTASIKAPSGRDEPCLLKRLPNNHIGISFIPREVGEHLVSIKKNGNHVANSPVSIMVVQSEIGDARRAKVYGRGLSEGRTFEMSDFIVDTRDAGYGGISLAVEGPSKVDIQTEDLEDGTCKVSYFPTVPGVYIVSTKFADEHVPGSPFTVKISGEGRVKESITRTSRAPSVATVGSICDLNLKIPEINSSDMSAHVTSPSGHVTEAEIVPVGKNSHCVRFVPQEMGVHTVSVKYRGQHVTGSPFQFTVGPLGEGGAHKVRAGGPGLERGEAGIPAEFSIWTREAGAGGLSIAVEGPSKAEITFDDHKNGSCGVSYIAQEPGNYEVSIKFNDEHIPDSPYLVPVIAPSDDARCLTVLSLQESGLKVNQPASFAIRLNGAKGKIDAKVHSPSGAVEECHVSELEPDKYAVRFIPHENGIHTIDVKFNGSHVVGSPFKVRVGEPGQAGNPALVSAYGAGLEAGTTGIQSEFFINTTQAGPGTLSVTIEGPSKVKMDCQEIPEGYKVMYTPMAPGNYLISVKYGGPNHISRSPFKAKVTGQRLVTPGSANETSSILVESVTRSSTETCYSAIPKSSSDASKVTSKGAGLSKAFVGQKSSFLVDCSKAGSNMLLIGVHGPTTPCEEVSMKHVGKQQYNVTYVVKEKGDYVLAVKWGEEHIPGSPFHVTVP" }, "uniprot_id": "A0A0G2JXT8_RAT", "enzyme_annotation": [], "glycation": [], "keywords": [], "species": [ { "common_name": "Rat", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "Rattus norvegicus", "taxid": 10116 } ], "publication": [ { "reference": [ { "url": "https://www.ncbi.nlm.nih.gov/pubmed/22673903", "type": [ "PubMed" ], "id": "22673903" } ], "title": "Quantitative maps of protein phosphorylation sites across 14 different rat organs and tissues.", "journal": "Nat. Commun.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "authors": "Olsen J.V., Lage K., Secher A., Dmytriyev A., Lundby A., Lundby C., Nordsborg N.B.", "date": "2012" } ], "uniprot_ac": "A0A0G2JXT8", "site_annotation": [ { "end_pos": 1400, "annotation": "n_glycosylation_sequon", "start_pos": 1398 }, { "end_pos": 1839, "annotation": "n_glycosylation_sequon", "start_pos": 1837 }, { "end_pos": 2127, "annotation": "n_glycosylation_sequon", "start_pos": 2125 }, { "end_pos": 2247, "annotation": "n_glycosylation_sequon", "start_pos": 2245 }, { "end_pos": 2364, "annotation": "n_glycosylation_sequon", "start_pos": 2362 }, { "end_pos": 2410, "annotation": "n_glycosylation_sequon", "start_pos": 2408 }, { "end_pos": 2485, "annotation": "n_glycosylation_sequon", "start_pos": 2483 }, { "end_pos": 2572, "annotation": "n_glycosylation_sequon", "start_pos": 2570 }, { "end_pos": 314, "annotation": "n_glycosylation_sequon", "start_pos": 312 }, { "end_pos": 81, "annotation": "n_glycosylation_sequon", "start_pos": 79 }, { "end_pos": 806, "annotation": "n_glycosylation_sequon", "start_pos": 804 } ], "isoforms": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8#A0A0G2JXT8-1", "isoform_ac": "A0A0G2JXT8-1", "locus": { "end_pos": 18751158, "strand": "+", "start_pos": 18882834, "chromosome": "15", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000088264", "id": "ENSRNOT00000088264", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000070399", "id": "ENSRNOP00000070399", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|A0A0G2JXT8-1|A0A0G2JXT8_RAT Isoform 1 of Filamin B OS=Rattus norvegicus OX=10116 GN=Flnb PE=1 SV=1 CANONICAL=A0A0G2JXT8-1", "length": 2602, "sequence": "MPVTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVNKRIGNLQTDLSDGLRLIALLEVLSQKRMHHKYHQRPTFRQMKLENVSVALEFLDHESIKLVSIDSKAIVDGNLKLILGLVWTLILHYSISMPVWEDEGDDDAKKQTPKQRLLGWIQNKIPYLPITNFNQNWQDGKALGALVDSCAPGLCPDWESWDPRKPVDNAREAMQQADDWLGVPQVITPEEIIHPDVDEHSVMTYLSQFPKAKLKPGAPLKPKLNPKKARAYGRGIESTGNMVKQPAKFTVDTISAGQGDVMVFVEDPEGNKEEARVTPDSDKNKTYSVEYLPKVTGLHKVIVLFAGQHISKSPFEVNVDKAQGDASKVTAKGPGLETTGNIANKPTYFDIYTAGAGVGDIGVEVEDPQGKNSVELLVEDRGNQVYRCVYKPLQPGPHVVKVSFAGDAIPKSPFGVQIGEACNPNACRASGRGLQPKGVRIRETADFKVDTKAAGSGELAVTVKGPKGLEELVKQKGFLDGVYSFEYYPSTPGKYSIAVTWGGHHIPKSPFEVQVGPEAGMQKVRAWGPGLHGGIVGRSADFVVESIGSEVGTLGFAIEGPSQAKIEYDDQNDGSCDVKYWPKEPGEYAVHIMCDDEDIKDSPYMAFIHPATGDYNPDLVQAYGPGLEKTGCTINNPAEFIVDPKDAGNAPLKILAQDGEGQPIDIQMKSRMDGTYVCSYTPVKAIKHTIAVVWGGVNIPHSPYRVNIGQGSHPQKVKVFGPGVERSGLKANEPTHFTVDCTEAGEGDVSVGIKCDARVLSDDEEDVDFDIIHNANDTFTVKYVPPAPGRYTIKVLFASEEIPASPFRVKVDPSHDASKVKAEGPGLSKAGVENGKPTHFTVHTKGAGKAPLNVQFSSPVPGEAVKDLDIIDNYDYSHTVKYTPTQQGNMQVLVTYGGDPIPKSPFTVGVAAPLDLSKIKINGLENRVEVGKDQEFAIDTNGAGGQGKLDVTILSPSRKVVPCLVAPVAGRECSTAKFIPREEGLFAVDVTYDGHPVPGSPYTVEASLPPDPTKVKAHGPGLEGGLVGKPAEFTIDTKGAGTGGLGLTVEGPCEAKIECSDNGDGTCSVSYLPTKPGEYFVNILFEEVHIPGSPFKADIEMPFDPSKVVASGPGLEHGKVGEPGILCVDCSEAGPGTLGLEAVSDSGAKAEVSIQNNKDGSYAVTYVPLTAGMYTLTMKYGGELVPQFPTWVKVEPTVDTSGIKAFGPGIEGKDVFREATTDFTVDARPLTQVGGDHIKAHIANPSGASTECFVKDNADGTYQVEYTPFEKGFHVVEVTYDDAPIPNSPFKVAVNEGCQPSRVHAQGPGLKEAFTNKPNVFTVVTRGAGIGGLGITVEGPSESKINCRDNKDGSCSAEYIPFAPGDYDVNITYGGVHIPGSPFRVPSKDVVDPSKVKIAGPGLSSCVRACIPQSFTVDTSKAGLAPLEVRVMGPRGLVEPVDVVDNGDGTHTVTYTPSQEGPYIVSVKYADEEIPRSPFKVKVLPTYDASKVTASGPGLSAYGVPASLPVEFAIDARDAGEGLLAVQITDQEGKPQRATVHDNKDGTYAVTYIPDKTGRYMIGVTYGGDNIPLSPYRIRATQTGDASKCLATGPGIAPTVKTGEEVGFVVDAKTAGKGKVTCVILTPDGTEAEADVIENEDGTYDIFYTAAKPGTYVIYVRFGGVDIPNSPFTVMATDGEVTAMEEAPVNACPPGFRPWVTEEAYVPVSDMNGLGFKPFDLVIPFAVRKGEITGQVHMPSGKKATPEIVDNKDGTVTVRYAPTEVGLHEMHIKYMGSHIPESPLQFYVNYPNSGSVSAYGPGLVYGVANKTATFTIVTEDAGEGGLDLAIEGPSKAEISCIDNKDGTCTVTYLPTLPGDYSILVKYNDKHIPGSPFTAKITDDSRRCSQVKLGSAADFLLDISETDLSTLTASIKAPSGRDEPCLLKRLPNNHIGISFIPREVGEHLVSIKKNGNHVANSPVSIMVVQSEIGDARRAKVYGRGLSEGRTFEMSDFIVDTRDAGYGGISLAVEGPSKVDIQTEDLEDGTCKVSYFPTVPGVYIVSTKFADEHVPGSPFTVKISGEGRVKESITRTSRAPSVATVGSICDLNLKIPEINSSDMSAHVTSPSGHVTEAEIVPVGKNSHCVRFVPQEMGVHTVSVKYRGQHVTGSPFQFTVGPLGEGGAHKVRAGGPGLERGEAGIPAEFSIWTREAGAGGLSIAVEGPSKAEITFDDHKNGSCGVSYIAQEPGNYEVSIKFNDEHIPDSPYLVPVIAPSDDARCLTVLSLQESGLKVNQPASFAIRLNGAKGKIDAKVHSPSGAVEECHVSELEPDKYAVRFIPHENGIHTIDVKFNGSHVVGSPFKVRVGEPGQAGNPALVSAYGAGLEAGTTGIQSEFFINTTQAGPGTLSVTIEGPSKVKMDCQEIPEGYKVMYTPMAPGNYLISVKYGGPNHISRSPFKAKVTGQRLVTPGSANETSSILVESVTRSSTETCYSAIPKSSSDASKVTSKGAGLSKAFVGQKSSFLVDCSKAGSNMLLIGVHGPTTPCEEVSMKHVGKQQYNVTYVVKEKGDYVLAVKWGEEHIPGSPFHVTVP" } }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8#D4A8D5-1", "isoform_ac": "D4A8D5-1", "locus": { "end_pos": 18751158, "strand": "+", "start_pos": 18882834, "chromosome": "15", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOT00000066546", "id": "ENSRNOT00000066546", "database": "Ensembl Transcript" }, { "url": "https://www.ensembl.org/id/ENSRNOP00000061198", "id": "ENSRNOP00000061198", "database": "Ensembl Peptide" } ] }, "sequence": { "header": "tr|D4A8D5-1|A0A0G2JXT8_RAT Computationally mapped isoform of Filamin B OS=Rattus norvegicus OX=10116 GN=Flnb PE=1 SV=1 CANONICAL=A0A0G2JXT8-1", "length": 2578, "sequence": "MPVTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVNKRIGNLQTDLSDGLRLIALLEVLSQKRMHHKYHQRPTFRQMKLENVSVALEFLDHESIKLVSIDSKAIVDGNLKLILGLVWTLILHYSISMPVWEDEGDDDAKKQTPKQRLLGWIQNKIPYLPITNFNQNWQDGKALGALVDSCAPGLCPDWESWDPRKPVDNAREAMQQADDWLGVPQVITPEEIIHPDVDEHSVMTYLSQFPKAKLKPGAPLKPKLNPKKARAYGRGIESTGNMVKQPAKFTVDTISAGQGDVMVFVEDPEGNKEEARVTPDSDKNKTYSVEYLPKVTGLHKVIVLFAGQHISKSPFEVNVDKAQGDASKVTAKGPGLETTGNIANKPTYFDIYTAGAGVGDIGVEVEDPQGKNSVELLVEDRGNQVYRCVYKPLQPGPHVVKVSFAGDAIPKSPFGVQIGEACNPNACRASGRGLQPKGVRIRETADFKVDTKAAGSGELAVTVKGPKGLEELVKQKGFLDGVYSFEYYPSTPGKYSIAVTWGGHHIPKSPFEVQVGPEAGMQKVRAWGPGLHGGIVGRSADFVVESIGSEVGTLGFAIEGPSQAKIEYDDQNDGSCDVKYWPKEPGEYAVHIMCDDEDIKDSPYMAFIHPATGDYNPDLVQAYGPGLEKTGCTINNPAEFIVDPKDAGNAPLKILAQDGEGQPIDIQMKSRMDGTYVCSYTPVKAIKHTIAVVWGGVNIPHSPYRVNIGQGSHPQKVKVFGPGVERSGLKANEPTHFTVDCTEAGEGDVSVGIKCDARVLSDDEEDVDFDIIHNANDTFTVKYVPPAPGRYTIKVLFASEEIPASPFRVKVDPSHDASKVKAEGPGLSKAGVENGKPTHFTVHTKGAGKAPLNVQFSSPVPGEAVKDLDIIDNYDYSHTVKYTPTQQGNMQVLVTYGGDPIPKSPFTVGVAAPLDLSKIKINGLENRVEVGKDQEFAIDTNGAGGQGKLDVTILSPSRKVVPCLVAPVAGRECSTAKFIPREEGLFAVDVTYDGHPVPGSPYTVEASLPPDPTKVKAHGPGLEGGLVGKPAEFTIDTKGAGTGGLGLTVEGPCEAKIECSDNGDGTCSVSYLPTKPGEYFVNILFEEVHIPGSPFKADIEMPFDPSKVVASGPGLEHGKVGEPGILCVDCSEAGPGTLGLEAVSDSGAKAEVSIQNNKDGSYAVTYVPLTAGMYTLTMKYGGELVPQFPTWVKVEPTVDTSGIKAFGPGIEGKDVFREATTDFTVDARPLTQVGGDHIKAHIANPSGASTECFVKDNADGTYQVEYTPFEKGFHVVEVTYDDAPIPNSPFKVAVNEGCQPSRVHAQGPGLKEAFTNKPNVFTVVTRGAGIGGLGITVEGPSESKINCRDNKDGSCSAEYIPFAPGDYDVNITYGGVHIPGSPFRVPSKDVVDPSKVKIAGPGLSSCVRACIPQSFTVDTSKAGLAPLEVRVMGPRGLVEPVDVVDNGDGTHTVTYTPSQEGPYIVSVKYADEEIPRSPFKVKVLPTYDASKVTASGPGLSAYGVPASLPVEFAIDARDAGEGLLAVQITDQEGKPQRATVHDNKDGTYAVTYIPDKTGRYMIGVTYGGDNIPLSPYRIRATQTGDASKCLATGPGIAPTVKTGEEVGFVVDAKTAGKGKVTCVILTPDGTEAEADVIENEDGTYDIFYTAAKPGTYVIYVRFGGVDIPNSPFTVMVTEEAYVPVSDMNGLGFKPFDLVIPFAVRKGEITGQVHMPSGKKATPEIVDNKDGTVTVRYAPTEVGLHEMHIKYMGSHIPESPLQFYVNYPNSGSVSAYGPGLVYGVANKTATFTIVTEDAGEGGLDLAIEGPSKAEISCIDNKDGTCTVTYLPTLPGDYSILVKYNDKHIPGSPFTAKITDDSRRCSQVKLGSAADFLLDISETDLSTLTASIKAPSGRDEPCLLKRLPNNHIGISFIPREVGEHLVSIKKNGNHVANSPVSIMVVQSEIGDARRAKVYGRGLSEGRTFEMSDFIVDTRDAGYGGISLAVEGPSKVDIQTEDLEDGTCKVSYFPTVPGVYIVSTKFADEHVPGSPFTVKISGEGRVKESITRTSRAPSVATVGSICDLNLKIPEINSSDMSAHVTSPSGHVTEAEIVPVGKNSHCVRFVPQEMGVHTVSVKYRGQHVTGSPFQFTVGPLGEGGAHKVRAGGPGLERGEAGIPAEFSIWTREAGAGGLSIAVEGPSKAEITFDDHKNGSCGVSYIAQEPGNYEVSIKFNDEHIPDSPYLVPVIAPSDDARCLTVLSLQESGLKVNQPASFAIRLNGAKGKIDAKVHSPSGAVEECHVSELEPDKYAVRFIPHENGIHTIDVKFNGSHVVGSPFKVRVGEPGQAGNPALVSAYGAGLEAGTTGIQSEFFINTTQAGPGTLSVTIEGPSKVKMDCQEIPEGYKVMYTPMAPGNYLISVKYGGPNHISRSPFKAKVTGQRLVTPGSANETSSILVESVTRSSTETCYSAIPKSSSDASKVTSKGAGLSKAFVGQKSSFLVDCSKAGSNMLLIGVHGPTTPCEEVSMKHVGKQQYNVTYVVKEKGDYVLAVKWGEEHIPGSPFHVTVP" } } ], "pathway": [ { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1169408", "resource": "Reactome", "id": "R-RNO-1169408", "name": "ISG15 antiviral mechanism" } ], "function": [], "orthologs": [ { "uniprot_canonical_ac": "O75369-1", "protein_name": "Filamin-B", "sequence": { "length": 2602, "sequence": "MPVTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVNKRIGNLQTDLSDGLRLIALLEVLSQKRMYRKYHQRPTFRQMQLENVSVALEFLDRESIKLVSIDSKAIVDGNLKLILGLVWTLILHYSISMPVWEDEGDDDAKKQTPKQRLLGWIQNKIPYLPITNFNQNWQDGKALGALVDSCAPGLCPDWESWDPQKPVDNAREAMQQADDWLGVPQVITPEEIIHPDVDEHSVMTYLSQFPKAKLKPGAPLKPKLNPKKARAYGRGIEPTGNMVKQPAKFTVDTISAGQGDVMVFVEDPEGNKEEAQVTPDSDKNKTYSVEYLPKVTGLHKVTVLFAGQHISKSPFEVSVDKAQGDASKVTAKGPGLEAVGNIANKPTYFDIYTAGAGVGDIGVEVEDPQGKNTVELLVEDKGNQVYRCVYKPMQPGPHVVKIFFAGDTIPKSPFVVQVGEACNPNACRASGRGLQPKGVRIRETTDFKVDTKAAGSGELGVTMKGPKGLEELVKQKDFLDGVYAFEYYPSTPGRYSIAITWGGHHIPKSPFEVQVGPEAGMQKVRAWGPGLHGGIVGRSADFVVESIGSEVGSLGFAIEGPSQAKIEYNDQNDGSCDVKYWPKEPGEYAVHIMCDDEDIKDSPYMAFIHPATGGYNPDLVRAYGPGLEKSGCIVNNLAEFTVDPKDAGKAPLKIFAQDGEGQRIDIQMKNRMDGTYACSYTPVKAIKHTIAVVWGGVNIPHSPYRVNIGQGSHPQKVKVFGPGVERSGLKANEPTHFTVDCTEAGEGDVSVGIKCDARVLSEDEEDVDFDIIHNANDTFTVKYVPPAAGRYTIKVLFASQEIPASPFRVKVDPSHDASKVKAEGPGLSKAGVENGKPTHFTVYTKGAGKAPLNVQFNSPLPGDAVKDLDIIDNYDYSHTVKYTPTQQGNMQVLVTYGGDPIPKSPFTVGVAAPLDLSKIKLNGLENRVEVGKDQEFTVDTRGAGGQGKLDVTILSPSRKVVPCLVTPVTGRENSTAKFIPREEGLYAVDVTYDGHPVPGSPYTVEASLPPDPSKVKAHGPGLEGGLVGKPAEFTIDTKGAGTGGLGLTVEGPCEAKIECSDNGDGTCSVSYLPTKPGEYFVNILFEEVHIPGSPFKADIEMPFDPSKVVASGPGLEHGKVGEAGLLSVDCSEAGPGALGLEAVSDSGTKAEVSIQNNKDGTYAVTYVPLTAGMYTLTMKYGGELVPHFPARVKVEPAVDTSRIKVFGPGIEGKDVFREATTDFTVDSRPLTQVGGDHIKAHIANPSGASTECFVTDNADGTYQVEYTPFEKGLHVVEVTYDDVPIPNSPFKVAVTEGCQPSRVQAQGPGLKEAFTNKPNVFTVVTRGAGIGGLGITVEGPSESKINCRDNKDGSCSAEYIPFAPGDYDVNITYGGAHIPGSPFRVPVKDVVDPSKVKIAGPGLGSGVRARVLQSFTVDSSKAGLAPLEVRVLGPRGLVEPVNVVDNGDGTHTVTYTPSQEGPYMVSVKYADEEIPRSPFKVKVLPTYDASKVTASGPGLSSYGVPASLPVDFAIDARDAGEGLLAVQITDQEGKPKRAIVHDNKDGTYAVTYIPDKTGRYMIGVTYGGDDIPLSPYRIRATQTGDASKCLATGPGIASTVKTGEEVGFVVDAKTAGKGKVTCTVLTPDGTEAEADVIENEDGTYDIFYTAAKPGTYVIYVRFGGVDIPNSPFTVMATDGEVTAVEEAPVNACPPGFRPWVTEEAYVPVSDMNGLGFKPFDLVIPFAVRKGEITGEVHMPSGKTATPEIVDNKDGTVTVRYAPTEVGLHEMHIKYMGSHIPESPLQFYVNYPNSGSVSAYGPGLVYGVANKTATFTIVTEDAGEGGLDLAIEGPSKAEISCIDNKDGTCTVTYLPTLPGDYSILVKYNDKHIPGSPFTAKITDDSRRCSQVKLGSAADFLLDISETDLSSLTASIKAPSGRDEPCLLKRLPNNHIGISFIPREVGEHLVSIKKNGNHVANSPVSIMVVQSEIGDARRAKVYGRGLSEGRTFEMSDFIVDTRDAGYGGISLAVEGPSKVDIQTEDLEDGTCKVSYFPTVPGVYIVSTKFADEHVPGSPFTVKISGEGRVKESITRTSRAPSVATVGSICDLNLKIPEINSSDMSAHVTSPSGRVTEAEIVPMGKNSHCVRFVPQEMGVHTVSVKYRGQHVTGSPFQFTVGPLGEGGAHKVRAGGPGLERGEAGVPAEFSIWTREAGAGGLSIAVEGPSKAEITFDDHKNGSCGVSYIAQEPGNYEVSIKFNDEHIPESPYLVPVIAPSDDARRLTVMSLQESGLKVNQPASFAIRLNGAKGKIDAKVHSPSGAVEECHVSELEPDKYAVRFIPHENGVHTIDVKFNGSHVVGSPFKVRVGEPGQAGNPALVSAYGTGLEGGTTGIQSEFFINTTRAGPGTLSVTIEGPSKVKMDCQETPEGYKVMYTPMAPGNYLISVKYGGPNHIVGSPFKAKVTGQRLVSPGSANETSSILVESVTRSSTETCYSAIPKASSDASKVTSKGAGLSKAFVGQKSSFLVDCSKAGSNMLLIGVHGPTTPCEEVSMKHVGNQQYNVTYVVKERGDYVLAVKWGEEHIPGSPFHVTVP" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/37480", "id": "37480", "database": "MGI" } ], "common_name": "Human", "organism": "Homo sapiens", "gene_name": "FLNB", "tax_id": 9606 }, { "uniprot_canonical_ac": "Q80X90-1", "protein_name": "Filamin-B", "sequence": { "length": 2602, "sequence": "MPVTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVNKRIGNLQTDLSDGLRLIALLEVLSQKRMHHKYHQRPTFRQMKLENVSVALEFLDHESIKLVSIDSKAIVDGNLKLILGLVWTLILHYSISMPVWEDEGDDDAKKQTPKQRLLGWIQNKIPYLPITNFNQNWQDGKALGALVDSCAPGLCPDWESWDPRKPVDNAREAMQQADDWLGVPQVITPEEIIHPDVDEHSVMTYLSQFPKAKLKPGAPLKPKLNPKKARAYGRGIEPTGNMVKQPAKFTVDTISAGQGDVMVFVEDPEGNKEEARVTPDSDKNKTYSVEYLPKVTGLHKVIVLFAGQHISKSPFEVNVDKAQGDASKVTAKGPGLETTGNIANKPTYFDIYTAGAGVGDIGIEVEDPQGKNSVELLVEDRGNQVYRCVYKPVQPGPHVVKVSFAGDAIPKSPFGVQIGEACNPNACRASGRGLQPKGVRIRETADFKVDTKAAGSGELGVTVKGPKGLEELVKQKGFLDGVYSFEYYPSTPGKYSVAVTWGGHHIPKSPFEVQVGPEAGMQKVRAWGPGLHGGIVGRSADFVVESIGSEVGTLGFAIEGPSQAKIEYDDQNDGSCDVKYWPKEPGEYAVHIMCDDEDIKDSPYMAFIHPATGDYNPDLVQAYGPGLEKSGCTINNPAEFIVDPKDAGSAPLKILAQDGEGQPIDIQMKSRMDGTYACSYTPLKAIKHTIAVVWGGVNIPHSPYRVNIGQGSHPQKVKVFGPGVERSGLKANEPTHFTVDCTEAGEGDVSVGIKCDARVLSDDEEDVDFDIIHNANDTFTVKYVPPAPGRYTIKVLFASQEIPASPFRVKVDPSHDASKVKAEGPGLSKAGVENGKPTHFTVHTKGAGKAPLNVQFSSPLPGEAVKDLDIIDNYDYSHTVKYTPTQQGNMQVLVTYGGDPIPKSPFTVGVAAPLDLSKIKINGLENRVEVGKDQEFAIDTNGAGGQGKLDVTILSPSRKVVPCLVAPVAGRECSTAKFIPREEGLFAVDVTYDGHPVPGSPYTVEASLPPDPTKVKAHGPGLEGGLVGKPAEFTIDTKGAGTGGLGLTVEGPCEAKIECSDNGDGTCSVSYLPTKPGEYFVNILFEEVHIPGSPFKADIEMPFDPSKVVASGPGLEHGKVGEPGILCVDCSEAGPGTLGLEAVSDSGAKAEVSIQNNKDGTYAVTYVPLTAGMYTLTMKYGGELVPHFPAWVKVEPAIDTSGIKAFGPGIEGKDVFREATTDFTVDSRPLTQVGGDHIKAQITNPSGASTECFVKDNADGTYQVEYTPFEKGFHVVEVTYDDVPIPNSPFKVAVTEGCQPSRVHAQGPGLKEAFTNKSNVFTVVTRGAGIGGLGITVEGPSESKINCRDNKDGSCSAEYIPFAPGDYDVNITYGGVHIPGSPFRVPSKDVVDPSKVKIAGPGLSSCVRACIPQSFTVDSSKAGLAPLEVRVLGPRGLVEPVNVVDNGDGTHTVTYTPSQEGPYIVSVKYADEEIPRSPFKVKVLPTYDASKVTASGPGLSAYGVPASLPVEFAIDARDAGEGLLAVQITDQEGKPQRATVHDNKDGTYAVTYIPDKTGRYMIGVTYGGDNIPLSPYRIRATQTGDASKCLATGPGIAPTVKTGEEVGFVVDAKTAGKGKVTCVILTPDGTEAEADVIENEDGTYDIFYTAAKPGTYVIYVRFGGVDIPNSPFTVMATDGEVTAMEEAPVNACPPGFRPWVTEEAYVPVSDMNGLGFKPFDLVIPFAVRKGEITGTVHMPSGKKATPEIVDNKDGTVTVRYAPTEVGLHEMHIKYRGSHIPESPLQFYVNYPNSGSVSAYGPGLVYGVANKTATFTIVTEDAGEGGLDLAIEGPSKAEISCIDNKDGTCTVTYLPTLPGDYSILVKYNDKHIPGSPFTAKITDDNRRCSQVKLGSAADFLLDISETDLSTLTASIKAPSGRDEPCLLKRLPNNHIGISFIPREVGEHLVSIKKNGNHVANSPVSIMVVQSEIGDARRAKVYGQGLSEGRTFEMSDFIVDTRDAGYGGISLAVEGPSKVDIQTEDLEDGTCKVSYFPTVPGVYIVSTKFADEHVPGSPFTVKISGEGRVRESITRTSRAPAVATVGSICDLNLKIPEINSSDMSAHVTSPSGHVTEAEIVPMGKNSHCVRFVPQEMGVHTVSVKYRGQHVTGSPFQFTVGPLGEGGAHKVRAGGPGLERGEAGIPAEFSIWTREAGAGGLSIAVEGPSKAEITFDDHKNGSCGVSYIAQEPGNYEVSIKFNDEHIPDSPYLVPVIAPSDDARCLTVLSLQESGLKVNQPASFAIRLNGAKGKIDAKVHSPSGAVEECHVSELEPDKYAVRFIPHENGIHTIDVKFNGSHVVGSPFKVRVGEPGQAGNPALVSAYGAGLETGTTGIQSEFFINTTQAGPGTLSVTIEGPSKVKMDCQEIPEGYKVMYTPMAPGNYLIGVKYGGPNHISRSPFKAKVTGQRLVSPGSANETSSILVESVTRSSTETCYSAIPKSSSDASKVTSKGAGLSKAFVGQKSSFLVDCSKAGSNMLLIGVHGPTTPCEEVSMKHVGKQQYNVTYVVKERGDYVLAVKWGEEHIPGSPFHVTVP" }, "evidence": [ { "url": "http://www.informatics.jax.org/homology/37480", "id": "37480", "database": "MGI" }, { "url": "https://omabrowser.org/oma/group/A0A0G2JXT8/", "id": "A0A0G2JXT8", "database": "OMA" } ], "common_name": "Mouse", "organism": "Mus musculus", "gene_name": "Flnb", "tax_id": 10090 } ], "interactions": [], "synthesized_glycans": [], "snv": [], "cluster_types": [ { "name": "isoformset.uniprotkb", "label": "Isoforms" }, { "name": "homologset.mgi", "label": "MGI Homologs" }, { "name": "homologset.oma", "label": "OMA Homologs" } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006251842.1", "ac": "XP_006251842.1", "name": "filamin-B isoform X1", "summary": "" }, "go_annotation": { "categories": [ { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003779", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "actin binding", "id": "GO:0003779" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0042802", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "identical protein binding", "id": "GO:0042802" } ], "total": 2, "name": "Molecular Function" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005634", "pmid": "12393796", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "nucleus", "id": "GO:0005634" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "pmid": "12393796", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "neuronal cell body", "id": "GO:0043025" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043005", "pmid": "12393796", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "neuron projection", "id": "GO:0043005" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005829", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "cytosol", "id": "GO:0005829" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "plasma membrane", "id": "GO:0005886" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005903", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "brush border", "id": "GO:0005903" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005925", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "focal adhesion", "id": "GO:0005925" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001725", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "stress fiber", "id": "GO:0001725" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045335", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "phagocytic vesicle", "id": "GO:0045335" } ], "total": 9, "name": "Cellular Component" }, { "go_terms": [ { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030036", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "actin cytoskeleton organization", "id": "GO:0030036" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003334", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "keratinocyte development", "id": "GO:0003334" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003382", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "epithelial cell morphogenesis", "id": "GO:0003382" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0071346", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "cellular response to interferon-gamma", "id": "GO:0071346" }, { "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007519", "pmid": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "name": "skeletal muscle tissue development", "id": "GO:0007519" } ], "total": 5, "name": "Biological Process" } ] }, "gene_names": [ { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2JXT8", "type": "synonym", "resource": "RefSeq", "name": "Flnb" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "type": "recommended", "resource": "UniProtKB", "name": "Flnb" } ], "pro_annotation": [], "crossref": [ { "url": "https://bgee.org/?page=gene&gene_id=ENSRNOG00000009470", "id": "ENSRNOG00000009470", "database": "Bgee" }, { "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00014", "id": "cd00014", "database": "CDD" }, { "url": "https://www.ncbi.nlm.nih.gov/gene/306204", "id": "306204", "database": "GeneID" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001298", "id": "IPR001298", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001589", "id": "IPR001589", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR001715", "id": "IPR001715", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "id": "IPR013783", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR014756", "id": "IPR014756", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR017868", "id": "IPR017868", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR029874", "id": "IPR029874", "database": "InterPro" }, { "url": "https://www.ebi.ac.uk/interpro/entry/IPR036872", "id": "IPR036872", "database": "InterPro" }, { "url": "https://omabrowser.org/oma/group/CTILTPD/", "id": "CTILTPD", "database": "OMA" }, { "url": "http://www.orthodb.org/?query=35998at2759", "id": "35998at2759", "database": "OrthoDB" }, { "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR38537:SF7", "id": "PTHR38537:SF7", "database": "PANTHER" }, { "url": "http://pfam.xfam.org/family/PF00307", "id": "PF00307", "database": "Pfam" }, { "url": "http://pfam.xfam.org/family/PF00630", "id": "PF00630", "database": "Pfam" }, { "url": "https://www.reactome.org/PathwayBrowser/#R-RNO-1169408", "id": "R-RNO-1169408", "database": "Reactome" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/XP_006251842.1", "id": "XP_006251842.1", "database": "RefSeq" }, { "url": "http://rgd.mcw.edu/tools/genes/genes_view.cgi?id=1311915", "id": "1311915", "database": "RGD" }, { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "id": "A0A0G2JXT8", "database": "UniProtKB" } ], "expression_disease": [], "glycosylation": [], "mutagenesis": [], "disease": [ { "synonyms": [ { "id": "MONDO:0009727", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "resource": "MONDO", "name": "atelosteogenesis type II", "description": "" }, { "id": "MONDO:0009727", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "resource": "MONDO", "name": "De 50A Chapelle dysplasia", "description": "" }, { "id": "MONDO:0009727", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "resource": "MONDO", "name": "AOII", "description": "" }, { "id": "MONDO:0009727", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "resource": "MONDO", "name": "neonatal osseous dysplasia 1", "description": "" }, { "id": "MONDO:0009727", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "resource": "MONDO", "name": "neonatal osseous dysplasia type 1", "description": "" }, { "id": "MONDO:0009727", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "resource": "MONDO", "name": "AO2", "description": "" }, { "id": "MONDO:0009727", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "resource": "MONDO", "name": "atelosteogenesis, type 2", "description": "" }, { "id": "MONDO:0009727", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "resource": "MONDO", "name": "atelosteogenesis type 2", "description": "" }, { "id": "MONDO:0009727", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "resource": "MONDO", "name": "De la Chapelle dysplasia", "description": "" }, { "id": "MONDO:0009727", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "resource": "MONDO", "name": "atelosteogenesis, type II; AO2", "description": "" }, { "id": "MONDO:0009727", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "resource": "MONDO", "name": "atelosteogenesis, type II", "description": "" }, { "id": "MONDO:0009727", "url": "https://monarchinitiative.org/disease/MONDO:0009727", "resource": "MONDO", "name": "atelosteogenesis II", "description": "" } ], "recommended_name": { "id": "DOID:0050648", "url": "http://disease-ontology.org/term/DOID:0050648", "resource": "Disease Ontology", "name": "atelosteogenesis", "description": "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0050648#disease-associations", "id": "0050648", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0007208", "url": "https://monarchinitiative.org/disease/MONDO:0007208", "resource": "MONDO", "name": "Boomerang-like skeletal dysplasia", "description": "" }, { "id": "MONDO:0007208", "url": "https://monarchinitiative.org/disease/MONDO:0007208", "resource": "MONDO", "name": "dwarfism with short, bowed, rigid limbs and characteristic facies", "description": "" } ], "recommended_name": { "id": "DOID:0050680", "url": "http://disease-ontology.org/term/DOID:0050680", "resource": "Disease Ontology", "name": "Boomerang dysplasia", "description": "An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0050680#disease-associations", "id": "0050680", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [], "recommended_name": { "id": "DOID:0060564", "url": "http://disease-ontology.org/term/DOID:0060564", "resource": "Disease Ontology", "name": "spinal disease", "description": "A bone disease that is located_in the spine." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0060564#disease-associations", "id": "0060564", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [], "recommended_name": { "id": "DOID:0080006", "url": "http://disease-ontology.org/term/DOID:0080006", "resource": "Disease Ontology", "name": "bone development disease", "description": "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0080006#disease-associations", "id": "0080006", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0010094", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "resource": "MONDO", "name": "spondylocarpotarsal syndrome", "description": "" }, { "id": "MONDO:0010094", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "resource": "MONDO", "name": "spondylocarpotarsal synostosis", "description": "" }, { "id": "MONDO:0010094", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "resource": "MONDO", "name": "SCT", "description": "" }, { "id": "MONDO:0010094", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "resource": "MONDO", "name": "Synspondylism", "description": "" }, { "id": "MONDO:0010094", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "resource": "MONDO", "name": "congenital scoliosis with unilateral unsegmented bar", "description": "" }, { "id": "MONDO:0010094", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "resource": "MONDO", "name": "spondylocarpotarsal synostosis syndrome; SCT", "description": "" }, { "id": "MONDO:0010094", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "resource": "MONDO", "name": "Synspondylism congenital", "description": "" }, { "id": "MONDO:0010094", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "resource": "MONDO", "name": "Synspondylism, congenital", "description": "" }, { "id": "MONDO:0010094", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "resource": "MONDO", "name": "scoliosis, congenital, with unilateral unsegmented Bar", "description": "" }, { "id": "MONDO:0010094", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "resource": "MONDO", "name": "congenital synspondylism", "description": "" }, { "id": "MONDO:0010094", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "resource": "MONDO", "name": "vertebral fusion with carpal coalition", "description": "" }, { "id": "MONDO:0010094", "url": "https://monarchinitiative.org/disease/MONDO:0010094", "resource": "MONDO", "name": "scoliosis, congenital with unilateral unsegmented bar", "description": "" }, { "id": "DOID:0090116", "url": "http://disease-ontology.org/term/DOID:0090116", "resource": "Disease Ontology", "name": "congenital scoliosis with unilateral unsegmented bar", "description": "" }, { "id": "DOID:0090116", "url": "http://disease-ontology.org/term/DOID:0090116", "resource": "Disease Ontology", "name": "SCT", "description": "" }, { "id": "DOID:0090116", "url": "http://disease-ontology.org/term/DOID:0090116", "resource": "Disease Ontology", "name": "congenital synspondylism", "description": "" }, { "id": "DOID:0090116", "url": "http://disease-ontology.org/term/DOID:0090116", "resource": "Disease Ontology", "name": "spondylocarpotarsal syndrome", "description": "" }, { "id": "DOID:0090116", "url": "http://disease-ontology.org/term/DOID:0090116", "resource": "Disease Ontology", "name": "spondylocarpotarsal synostosis", "description": "" }, { "id": "DOID:0090116", "url": "http://disease-ontology.org/term/DOID:0090116", "resource": "Disease Ontology", "name": "vertebral fusion with carpal coalition", "description": "" } ], "recommended_name": { "id": "DOID:0090116", "url": "http://disease-ontology.org/term/DOID:0090116", "resource": "Disease Ontology", "name": "spondylocarpotarsal synostosis syndrome", "description": "A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/0090116#disease-associations", "id": "0090116", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0007342", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "resource": "MONDO", "name": "talipes", "description": "" }, { "id": "MONDO:0007342", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "resource": "MONDO", "name": "equinovarus deformity of foot (finding)", "description": "" }, { "id": "MONDO:0007342", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "resource": "MONDO", "name": "clubbed foot", "description": "" }, { "id": "MONDO:0007342", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "resource": "MONDO", "name": "congenital talipes equinovarus", "description": "" }, { "id": "MONDO:0007342", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "resource": "MONDO", "name": "clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly", "description": "" }, { "id": "MONDO:0007342", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "resource": "MONDO", "name": "CCF", "description": "" }, { "id": "MONDO:0007342", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "resource": "MONDO", "name": "clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly; CCF", "description": "" }, { "id": "MONDO:0007342", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "resource": "MONDO", "name": "equinovarus deformity of foot", "description": "" }, { "id": "MONDO:0007342", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "resource": "MONDO", "name": "congenital equinovarus", "description": "" }, { "id": "MONDO:0007342", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "resource": "MONDO", "name": "club foot", "description": "" }, { "id": "MONDO:0007342", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "resource": "MONDO", "name": "talipes equinovarus", "description": "" }, { "id": "MONDO:0007342", "url": "https://monarchinitiative.org/disease/MONDO:0007342", "resource": "MONDO", "name": "congenital clubfoot", "description": "" }, { "id": "DOID:11836", "url": "http://disease-ontology.org/term/DOID:11836", "resource": "Disease Ontology", "name": "Congenital equinovarus", "description": "" }, { "id": "DOID:11836", "url": "http://disease-ontology.org/term/DOID:11836", "resource": "Disease Ontology", "name": "Equinovarus deformity of foot", "description": "" }, { "id": "DOID:11836", "url": "http://disease-ontology.org/term/DOID:11836", "resource": "Disease Ontology", "name": "congenital clubfoot", "description": "" }, { "id": "DOID:11836", "url": "http://disease-ontology.org/term/DOID:11836", "resource": "Disease Ontology", "name": "congenital talipes equinovarus", "description": "" } ], "recommended_name": { "id": "DOID:11836", "url": "http://disease-ontology.org/term/DOID:11836", "resource": "Disease Ontology", "name": "clubfoot", "description": "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/11836#disease-associations", "id": "11836", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "MONDO:0007875", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "resource": "MONDO", "name": "LRS", "description": "" }, { "id": "MONDO:0007875", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "resource": "MONDO", "name": "Larsen syndrome; LRS", "description": "" }, { "id": "MONDO:0007875", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "resource": "MONDO", "name": "dominant Larsen syndrome", "description": "" }, { "id": "MONDO:0007875", "url": "https://monarchinitiative.org/disease/MONDO:0007875", "resource": "MONDO", "name": "autosomal dominant Larsen syndrome", "description": "" }, { "id": "DOID:14764", "url": "http://disease-ontology.org/term/DOID:14764", "resource": "Disease Ontology", "name": "dominant larsen syndrome", "description": "" } ], "recommended_name": { "id": "DOID:14764", "url": "http://disease-ontology.org/term/DOID:14764", "resource": "Disease Ontology", "name": "Larsen syndrome", "description": "Asyndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/14764#disease-associations", "id": "14764", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:2256", "url": "http://disease-ontology.org/term/DOID:2256", "resource": "Disease Ontology", "name": "Cartilage Development disorder", "description": "" }, { "id": "DOID:2256", "url": "http://disease-ontology.org/term/DOID:2256", "resource": "Disease Ontology", "name": "Congenital anomaly of cartilage", "description": "" }, { "id": "DOID:2256", "url": "http://disease-ontology.org/term/DOID:2256", "resource": "Disease Ontology", "name": "Osteochondrodysplasia syndrome", "description": "" }, { "id": "DOID:2256", "url": "http://disease-ontology.org/term/DOID:2256", "resource": "Disease Ontology", "name": "chondrodystrophy", "description": "" }, { "id": "DOID:2256", "url": "http://disease-ontology.org/term/DOID:2256", "resource": "Disease Ontology", "name": "skeletal dysplasia", "description": "" } ], "recommended_name": { "id": "DOID:2256", "url": "http://disease-ontology.org/term/DOID:2256", "resource": "Disease Ontology", "name": "osteochondrodysplasia", "description": "A bone development disease that results_in defective development of cartilage or bone." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/2256#disease-associations", "id": "2256", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [], "recommended_name": { "id": "DOID:423", "url": "http://disease-ontology.org/term/DOID:423", "resource": "Disease Ontology", "name": "myopathy", "description": "A muscular disease in which the muscle fibers do not function resulting in muscular weakness." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/423#disease-associations", "id": "423", "database": "Alliance of Genome Resources" } ] }, { "synonyms": [ { "id": "DOID:674", "url": "http://disease-ontology.org/term/DOID:674", "resource": "Disease Ontology", "name": "Palatoschisis", "description": "" } ], "recommended_name": { "id": "DOID:674", "url": "http://disease-ontology.org/term/DOID:674", "resource": "Disease Ontology", "name": "cleft palate", "description": "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate." }, "evidence": [ { "url": "https://www.alliancegenome.org/gene/674#disease-associations", "id": "674", "database": "Alliance of Genome Resources" } ] } ], "phosphorylation": [], "mass": { "monoisotopic_mass": 277844.0, "chemical_mass": 277844.0 }, "expression_tissue": [], "gene": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8", "name": "Flnb", "locus": { "end_pos": 18750118, "strand": "-", "start_pos": 18883005, "chromosome": "15", "evidence": [ { "url": "https://www.ensembl.org/id/ENSRNOG00000009470", "id": "ENSRNOG00000009470", "database": "Ensembl Gene" } ] } } ], "protein_names": [ { "url": "https://www.uniprot.org/uniprot/A0A0G2JXT8#names_and_taxonomy", "type": "synonym", "resource": "UniProtKB", "name": "Filamin B" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/A0A0G2JXT8", "type": "synonym", "resource": "RefSeq", "name": "filamin-B isoform X1" } ] }