| General information | Literature | Expression | Regulation | Variant | Interaction |
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Basic Information |
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|---|---|
Gene ID | 2316 |
Name | FLNA |
Synonym | ABP-280|ABPX|CSBS|CVD1|FLN|FLN-A|FLN1|FMD|MNS|NHBP|OPD|OPD1|OPD2|XLVD|XMVD;filamin A, alpha;FLNA;filamin A, alpha |
Definition | actin binding protein 280|alpha-filamin|endothelial actin-binding protein|filamin-1|filamin-A|non-muscle filamin |
Position | Xq28 |
Gene Type | protein-coding |
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TSG scores |
Description |
| TUSON ranking | 1109 |
TUSON P-value | 0.053526716 |
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Pathways and Diseases |
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Pathway | Cell junction organization;Reactome;REACT:20676 |
Pathway | TCR signaling in naive CD4+ T cells;PID Curated;200022 |
Pathway | Hemostasis;Reactome;REACT:604 |
Pathway | Focal adhesion;KEGG PATHWAY;hsa04510 |
Pathway | MAPK signaling pathway;KEGG PATHWAY;hsa04010 |
Pathway | Noncanonical Wnt signaling pathway;PID Curated;200016 |
Pathway | Integrin signalling pathway;PANTHER;P00034 |
Disease | Cardiac valvu;OMIM |
Disease | Otopalatodigital syndrome, type I;OMIM |
Disease | Intestinal pseudoobstruction, neuronal;OMIM |
Disease | Heterotopia, periventricular;OMIM |
Disease | Cardiac valvular dysplasia-1;OMIM |
Disease | Otopalatodigital syndrome, type II;OMIM |
Disease | Heterotopia, periventricular, ED variant;OMIM |
Disease | Frontometaphyseal dysplasia;OMIM |
Disease | FG syndrome 2;OMIM |
Disease | Melnick-Needles syndrome;OMIM |
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External Links |
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Links to Entrez Gene | 2316 |
Links to all GeneRIF Items | 2316 |
Links to iHOP | 2316 |
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Sequence Information |
The sequences provided here are only the longest representative sequences, not covering all the isoforms. |
Nucleotide Sequence |
>2316 : length: 7944 atgagtagctcccactctcgggcgggccagagcgcagcaggcgcggctccgggcggcggc gtcgacacgcgggacgccgagatgccggccaccgagaaggacctggcggaggacgcgccg tggaagaagatccagcagaacactttcacgcgctggtgcaacgagcacctgaagtgcgtg agcaagcgcatcgccaacctgcagacggacctgagcgacgggctgcggcttatcgcgctg ttggaggtgctcagccagaagaagatgcaccgcaagcacaaccagcggcccactttccgc caaatgcagcttgagaacgtgtcggtggcgctcgagttcctggaccgcgagagcatcaaa ctggtgtccatcgacagcaaggccatcgtggacgggaacctgaagctgatcctgggcctc atctggaccctgatcctgcactactccatctccatgcccatgtgggacgaggaggaggat gaggaggccaagaagcagacccccaagcagaggctcctgggctggatccagaacaagctg ccgcagctgcccatcaccaacttcagccgggactggcagagcggccgggccctgggcgcc ctggtggacagctgtgccccgggcctgtgtcctgactgggactcttgggacgccagcaag cccgttaccaatgcgcgagaggccatgcagcaggcggatgactggctgggcatcccccag gtgatcacccccgaggagattgtggaccccaacgtggacgagcactctgtcatgacctac ctgtcccagttccccaaggccaagctgaagccaggggctcccttgcggcccaaactgaac ccgaagaaagcccgtgcctacgggccaggcatcgagcccacaggcaacatggtgaagaag cgggcagagttcactgtggagaccagaagtgctggccagggagaggtgctggtgtacgtg gaggacccggccggacaccaggaggaggcaaaagtgaccgccaataacgacaagaaccgc accttctccgtctggtacgtccccgaggtgacggggactcataaggttactgtgctcttt gctggccagcacatcgccaagagccccttcgaggtgtacgtggataagtcacagggtgac gccagcaaagtgacagcccaaggtcccggcctggagcccagtggcaacatcgccaacaag accacctactttgagatctttacggcaggagctggcacgggcgaggtcgaggttgtgatc caggaccccatgggacagaagggcacggtagagcctcagctggaggcccggggcgacagc acataccgctgcagctaccagcccaccatggagggcgtccacaccgtgcacgtcacgttt gccggcgtgcccatccctcgcagcccctacactgtcactgttggccaagcctgtaacccg agtgcctgccgggcggttggccggggcctccagcccaagggtgtgcgggtgaaggagaca gctgacttcaaggtgtacacaaagggcgctggcagtggggagctgaaggtcaccgtgaag ggccccaagggagaggagcgcgtgaagcagaaggacctgggggatggcgtgtatggcttc gagtattaccccatggtccctggaacctatatcgtcaccatcacgtggggtggtcagaac atcgggcgcagtcccttcgaagtgaaggtgggcaccgagtgtggcaatcagaaggtacgg gcctggggccctgggctggagggcggcgtcgttggcaagtcagcagactttgtggtggag gctatcggggacgacgtgggcacgctgggcttctcggtggaagggccatcgcaggctaag atcgaatgtgacgacaagggcgacggctcctgtgatgtgcgctactggccgcaggaggct ggcgagtatgccgttcacgtgctgtgcaacagcgaagacatccgcctcagccccttcatg gctgacatccgtgacgcgccccaggacttccacccagacagggtgaaggcacgtgggcct ggattggagaagacaggtgtggccgtcaacaagccagcagagttcacagtggatgccaag cacggtggcaaggccccacttcgggtccaagtccaggacaatgaaggctgccctgtggag gcgttggtcaaggacaacggcaatggcacttacagctgctcctacgtgcccaggaagccg gtgaagcacacagccatggtgtcctggggaggcgtcagcatccccaacagccccttcagg gtgaatgtgggagctggcagccaccccaacaaggtcaaagtatacggccccggagtagcc aagacagggctcaaggcccacgagcccacctacttcactgtggactgcgccgaggctggc cagggggacgtcagcatcggcatcaagtgtgcccctggagtggtaggccccgccgaagct gacatcgacttcgacatcatccgcaatgacaatgacaccttcacggtcaagtacacgccc cggggggctggcagctacaccattatggtcctctttgctgaccaggccacgcccaccagc cccatccgagtcaaggtggagccctctcatgacgccagtaaggtgaaggccgagggccct ggcctcagtcgcactggtgtcgagcttggcaagcccacccacttcacagtaaatgccaaa gctgctggcaaaggcaagctggacgtccagttctcaggactcaccaagggggatgcagtg cgagatgtggacatcatcgaccaccatgacaacacctacacagtcaagtacacgcctgtc cagcagggtccagtaggcgtcaatgtcacttatggaggggatcccatccctaagagccct ttctcagtggcagtatctccaagcctggacctcagcaagatcaaggtgtctggcctggga gagaaggtggacgttggcaaagaccaggagttcacagtcaaatcaaagggtgctggtggt caaggcaaagtggcatccaagattgtgggcccctcgggtgcagcggtgccctgcaaggtg gagccaggcctgggggctgacaacagtgtggtgcgcttcctgccccgtgaggaagggccc tatgaggtggaggtgacctatgacggcgtgcccgtgcctggcagcccctttcctctggaa gctgtggcccccaccaagcctagcaaggtgaaggcgtttgggccggggctgcagggaggc agtgcgggctcccccgcccgcttcaccatcgacaccaagggcgccggcacaggtggcctg ggcctgacggtggagggcccctgtgaggcgcagctcgagtgcttggacaatggggatggc acatgttccgtgtcctacgtgcccaccgagcccggggactacaacatcaacatcctcttc gctgacacccacatccctggctccccattcaaggcccacgtggttccctgctttgacgca tccaaagtcaagtgctcaggccccgggctggagcgggccaccgctggggaggtgggccaa ttccaagtggactgctcgagcgcgggcagcgcggagctgaccattgagatctgctcggag gcggggcttccggccgaggtgtacatccaggaccacggtgatggcacgcacaccattacc tacattcccctctgccccggggcctacaccgtcaccatcaagtacggcggccagcccgtg cccaacttccccagcaagctgcaggtggaacctgcggtggacacttccggtgtccagtgc tatgggcctggtattgagggccagggtgtcttccgtgaggccaccactgagttcagtgtg gacgcccgggctctgacacagaccggagggccgcacgtcaaggcccgtgtggccaacccc tcaggcaacctgacggagacctacgttcaggaccgtggcgatggcatgtacaaagtggag tacacgccttacgaggagggactgcactccgtggacgtgacctatgacggcagtcccgtg cccagcagccccttccaggtgcccgtgaccgagggctgcgacccctcccgggtgcgtgtc cacgggccaggcatccaaagtggcaccaccaacaagcccaacaagttcactgtggagacc aggggagctggcacgggcggcctgggcctggctgtagagggcccctccgaggccaagatg tcctgcatggataacaaggacggcagctgctcggtcgagtacatcccttatgaggctggc acctacagcctcaacgtcacctatggtggccatcaagtgccaggcagtcctttcaaggtc cctgtgcatgatgtgacagatgcgtccaaggtcaagtgctctgggcccggcctgagccca ggcatggttcgtgccaacctccctcagtccttccaggtggacacaagcaaggctggtgtg gccccattgcaggtcaaagtgcaagggcccaaaggcctggtggagccagtggacgtggta gacaacgctgatggcacccagaccgtcaattatgtgcccagccgagaagggccctacagc atctcagtactgtatggagatgaagaggtaccccggagccccttcaaggtcaaggtgctg cctactcatgatgccagcaaggtgaaggccagtggccccgggctcaacaccactggcgtg cctgccagcctgcccgtggagttcaccatcgatgcaaaggacgccggggagggcctgctg gctgtccagatcacggatcccgaaggcaagccgaagaagacacacatccaagacaaccat gacggcacgtatacagtggcctacgtgccagacgtgacaggtcgctacaccatcctcatc aagtacggtggtgacgagatccccttctccccgtaccgcgtgcgtgccgtgcccaccggg gacgccagcaagtgcactgtcacagtgtcaatcggaggtcacgggctaggtgctggcatc ggccccaccattcagattggggaggagacggtgatcactgtggacactaaggcggcaggc aaaggcaaagtgacgtgcaccgtgtgcacgcctgatggctcagaggtggatgtggacgtg gtggagaatgaggacggcactttcgacatcttctacacggccccccagccgggcaaatac gtcatctgtgtgcgctttggtggcgagcacgtgcccaacagccccttccaagtgacggct ctggctggggaccagccctcggtgcagccccctctacggtctcagcagctggccccacag tacacctacgcccagggcggccagcagacttgggccccggagaggcccctggtgggtgtc aatgggctggatgtgaccagcctgaggccctttgaccttgtcatccccttcaccatcaag aagggcgagatcacaggggaggttcggatgccctcaggcaaggtggcgcagcccaccatc actgacaacaaagacggcaccgtgaccgtgcggtatgcacccagcgaggctggcctgcac gagatggacatccgctatgacaacatgcacatcccaggaagccccttgcagttctatgtg gattacgtcaactgtggccatgtcactgcctatgggcctggcctcacccatggagtagtg aacaagcctgccaccttcaccgtcaacaccaaggatgcaggagaggggggcctgtctctg gccattgagggcccgtccaaagcagaaatcagctgcactgacaaccaggatgggacatgc agcgtgtcctacctgcctgtgctgccgggggactacagcattctagtcaagtacaatgaa cagcacgtcccaggcagccccttcactgctcgggtcacaggtgacgactccatgcgtatg tcccacctaaaggtcggctctgctgccgacatccccatcaacatctcagagacggatctc agcctgctgacggccactgtggtcccgccctcgggccgggaggagccctgtttgctgaag cggctgcgtaatggccacgtggggatttcattcgtgcccaaggagacgggggagcacctg gtgcatgtgaagaaaaatggccagcacgtggccagcagccccatcccggtggtgatcagc cagtcggaaattggggatgccagtcgtgttcgggtctctggtcagggccttcacgaaggc cacacctttgagcctgcagagtttatcattgatacccgcgatgcaggctatggtgggctc agcctgtccattgagggccccagcaaggtggacatcaacacagaggacctggaggacggg acgtgcagggtcacctactgccccacagagccaggcaactacatcatcaacatcaagttt gccgaccagcacgtgcctggcagccccttctctgtgaaggtgacaggcgagggccgggtg aaagagagcatcacccgcaggcgtcgggctccttcagtggccaacgttggtagtcattgt gacctcagcctgaaaatccctgaaattagcatccaggatatgacagcccaggtgaccagc ccatcgggcaagacccatgaggccgagatcgtggaaggggagaaccacacctactgcatc cgctttgttcccgctgagatgggcacacacacagtcagcgtgaagtacaagggccagcac gtgcctgggagccccttccagttcaccgtggggcccctaggggaagggggagcccacaag gtccgagctgggggccctggcctggagagagctgaagctggagtgccagccgaattcagt atctggacccgggaagctggtgctggaggcctggccattgctgtcgagggccccagcaag gctgagatctcttttgaggaccgcaaggacggctcctgtggtgtggcttatgtggtccag gagccaggtgactacgaagtctcagtcaagttcaacgaggaacacattcccgacagcccc ttcgtggtgcctgtggcttctccgtctggcgacgcccgccgcctcactgtttctagcctt caggagtcagggctaaaggtcaaccagccagcctcttttgcagtcagcctgaacggggcc aagggggcgatcgatgccaaggtgcacagcccctcaggagccctggaggagtgctatgtc acagaaattgaccaagataagtatgctgtgcgcttcatccctcgggagaatggcgtttac ctgattgacgtcaagttcaacggcacccacatccctggaagccccttcaagatccgagtt ggggagcctgggcatggaggggacccaggcttggtgtctgcttacggagcaggtctggaa ggcggtgtcacagggaacccagctgagttcgtcgtgaacacgagcaatgcgggagctggt gccctgtcggtgaccattgacggcccctccaaggtgaagatggattgccaggagtgccct gagggctaccgcgtcacctatacccccatggcacctggcagctacctcatctccatcaag tacggcggcccctaccacattgggggcagccccttcaaggccaaagtcacaggcccccgt ctcgtcagcaaccacagcctccacgagacatcatcagtgtttgtagactctctgaccaag gccacctgtgccccccagcatggggccccgggtcctgggcctgctgacgccagcaaggtg gtggccaagggcctggggctgagcaaggcctacgtaggccagaagagcagcttcacagta gactgcagcaaagcaggcaacaacatgctgctggtgggggttcatggcccaaggaccccc tgcgaggagatcctggtgaagcacgtgggcagccggctctacagcgtgtcctacctgctc aaggacaagggggagtacacactggtggtcaaatggggggacgagcacatcccaggcagc ccctaccgcgttgtggtgccctga |
Protein Sequence |
>2316 : length: 2647 MSSSHSRAGQSAAGAAPGGGVDTRDAEMPATEKDLAEDAPWKKIQQNTFTRWCNEHLKCV SKRIANLQTDLSDGLRLIALLEVLSQKKMHRKHNQRPTFRQMQLENVSVALEFLDRESIK LVSIDSKAIVDGNLKLILGLIWTLILHYSISMPMWDEEEDEEAKKQTPKQRLLGWIQNKL PQLPITNFSRDWQSGRALGALVDSCAPGLCPDWDSWDASKPVTNAREAMQQADDWLGIPQ VITPEEIVDPNVDEHSVMTYLSQFPKAKLKPGAPLRPKLNPKKARAYGPGIEPTGNMVKK RAEFTVETRSAGQGEVLVYVEDPAGHQEEAKVTANNDKNRTFSVWYVPEVTGTHKVTVLF AGQHIAKSPFEVYVDKSQGDASKVTAQGPGLEPSGNIANKTTYFEIFTAGAGTGEVEVVI QDPMGQKGTVEPQLEARGDSTYRCSYQPTMEGVHTVHVTFAGVPIPRSPYTVTVGQACNP SACRAVGRGLQPKGVRVKETADFKVYTKGAGSGELKVTVKGPKGEERVKQKDLGDGVYGF EYYPMVPGTYIVTITWGGQNIGRSPFEVKVGTECGNQKVRAWGPGLEGGVVGKSADFVVE AIGDDVGTLGFSVEGPSQAKIECDDKGDGSCDVRYWPQEAGEYAVHVLCNSEDIRLSPFM ADIRDAPQDFHPDRVKARGPGLEKTGVAVNKPAEFTVDAKHGGKAPLRVQVQDNEGCPVE ALVKDNGNGTYSCSYVPRKPVKHTAMVSWGGVSIPNSPFRVNVGAGSHPNKVKVYGPGVA KTGLKAHEPTYFTVDCAEAGQGDVSIGIKCAPGVVGPAEADIDFDIIRNDNDTFTVKYTP RGAGSYTIMVLFADQATPTSPIRVKVEPSHDASKVKAEGPGLSRTGVELGKPTHFTVNAK AAGKGKLDVQFSGLTKGDAVRDVDIIDHHDNTYTVKYTPVQQGPVGVNVTYGGDPIPKSP FSVAVSPSLDLSKIKVSGLGEKVDVGKDQEFTVKSKGAGGQGKVASKIVGPSGAAVPCKV EPGLGADNSVVRFLPREEGPYEVEVTYDGVPVPGSPFPLEAVAPTKPSKVKAFGPGLQGG SAGSPARFTIDTKGAGTGGLGLTVEGPCEAQLECLDNGDGTCSVSYVPTEPGDYNINILF ADTHIPGSPFKAHVVPCFDASKVKCSGPGLERATAGEVGQFQVDCSSAGSAELTIEICSE AGLPAEVYIQDHGDGTHTITYIPLCPGAYTVTIKYGGQPVPNFPSKLQVEPAVDTSGVQC YGPGIEGQGVFREATTEFSVDARALTQTGGPHVKARVANPSGNLTETYVQDRGDGMYKVE YTPYEEGLHSVDVTYDGSPVPSSPFQVPVTEGCDPSRVRVHGPGIQSGTTNKPNKFTVET RGAGTGGLGLAVEGPSEAKMSCMDNKDGSCSVEYIPYEAGTYSLNVTYGGHQVPGSPFKV PVHDVTDASKVKCSGPGLSPGMVRANLPQSFQVDTSKAGVAPLQVKVQGPKGLVEPVDVV DNADGTQTVNYVPSREGPYSISVLYGDEEVPRSPFKVKVLPTHDASKVKASGPGLNTTGV PASLPVEFTIDAKDAGEGLLAVQITDPEGKPKKTHIQDNHDGTYTVAYVPDVTGRYTILI KYGGDEIPFSPYRVRAVPTGDASKCTVTVSIGGHGLGAGIGPTIQIGEETVITVDTKAAG KGKVTCTVCTPDGSEVDVDVVENEDGTFDIFYTAPQPGKYVICVRFGGEHVPNSPFQVTA LAGDQPSVQPPLRSQQLAPQYTYAQGGQQTWAPERPLVGVNGLDVTSLRPFDLVIPFTIK KGEITGEVRMPSGKVAQPTITDNKDGTVTVRYAPSEAGLHEMDIRYDNMHIPGSPLQFYV DYVNCGHVTAYGPGLTHGVVNKPATFTVNTKDAGEGGLSLAIEGPSKAEISCTDNQDGTC SVSYLPVLPGDYSILVKYNEQHVPGSPFTARVTGDDSMRMSHLKVGSAADIPINISETDL SLLTATVVPPSGREEPCLLKRLRNGHVGISFVPKETGEHLVHVKKNGQHVASSPIPVVIS QSEIGDASRVRVSGQGLHEGHTFEPAEFIIDTRDAGYGGLSLSIEGPSKVDINTEDLEDG TCRVTYCPTEPGNYIINIKFADQHVPGSPFSVKVTGEGRVKESITRRRRAPSVANVGSHC DLSLKIPEISIQDMTAQVTSPSGKTHEAEIVEGENHTYCIRFVPAEMGTHTVSVKYKGQH VPGSPFQFTVGPLGEGGAHKVRAGGPGLERAEAGVPAEFSIWTREAGAGGLAIAVEGPSK AEISFEDRKDGSCGVAYVVQEPGDYEVSVKFNEEHIPDSPFVVPVASPSGDARRLTVSSL QESGLKVNQPASFAVSLNGAKGAIDAKVHSPSGALEECYVTEIDQDKYAVRFIPRENGVY LIDVKFNGTHIPGSPFKIRVGEPGHGGDPGLVSAYGAGLEGGVTGNPAEFVVNTSNAGAG ALSVTIDGPSKVKMDCQECPEGYRVTYTPMAPGSYLISIKYGGPYHIGGSPFKAKVTGPR LVSNHSLHETSSVFVDSLTKATCAPQHGAPGPGPADASKVVAKGLGLSKAYVGQKSSFTV DCSKAGNNMLLVGVHGPRTPCEEILVKHVGSRLYSVSYLLKDKGEYTLVVKWGDEHIPGS PYRVVVP |