| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2200 |
Name | FBN1 |
Synonym | ACMICD|FBN|GPHYSD2|MASS|MFS1|OCTD|SGS|SSKS|WMS|WMS2;fibrillin 1;FBN1;fibrillin 1 |
Definition | fibrillin 15|fibrillin-1 |
Position | 15q21.1 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Integrin cell surface interactions;Reactome;REACT:13552 |
Pathway | Integrin cell surface interactions;PID Reactome;500004 |
Disease | Encephalopathies;FunDO |
Disease | Thyroid cancer;FunDO |
Disease | cardiovascular;GAD |
Disease | aortic stiffness;GAD |
Disease | Marfan phenotype;GAD |
Disease | Shprintzen-Goldberg syndrome;OMIM |
Disease | DEVELOPMENTAL;GAD |
Disease | Glaucoma;FunDO |
Disease | scleroderma;GAD |
Disease | Systemic scleroderma;FunDO |
Disease | Mitral valve disease;FunDO |
Disease | Stiff skin syndrome;OMIM |
Disease | Aortic aneurysm, ascending, and dissection;OMIM |
Disease | Drug abuse;FunDO |
Disease | Tuberculosis;FunDO |
Disease | Coronary Artery Disease;GAD |
Disease | systemic sclerosis;GAD |
Disease | CARDIOVASCULAR;GAD |
Disease | Breast cancer;NHGRI |
Disease | MASS syndrome;OMIM |
Disease | CANCER;GAD |
Disease | Marfan syndrome;OMIM |
Disease | Marfan Syndrome;GAD |
Disease | height;GAD |
Disease | mitral valve prolapse;GAD |
Disease | Bone disease;FunDO |
Disease | breast cancer;GAD |
Disease | aortic stiffness and disease severity;GAD |
Disease | Ectopia lentis, familial;OMIM |
Disease | Connective tissue disease;FunDO |
Disease | Myelofibrosis;FunDO |
Disease | Weill-Marchesani syndrome, dominant;OMIM |
Disease | mitral valve prolapse.;GAD |
External Links | |
Links to Entrez Gene | 2200 |
Links to all GeneRIF Items | 2200 |
Links to iHOP | 2200 |
Sequence Information | |
Nucleotide Sequence | >2200 : length: 8616 atgcgtcgagggcgtctgctggagatcgccctgggatttaccgtgcttttagcgtcctac acgagccatggggcggacgccaatttggaggctgggaacgtgaaggaaaccagagccagt cgggccaagagaagaggcggtggaggacacgacgcgcttaaaggacccaatgtctgtgga tcacgttataatgcttactgttgccctggatggaaaaccttacctggcggaaatcagtgt attgtccccatttgccggcattcctgtggggatggattttgttcgaggccaaatatgtgc acttgcccatctggtcagatagctccttcctgtggctccagatccatacaacactgcaat attcgctgtatgaatggaggtagctgcagtgacgatcactgtctatgccagaaaggatac atagggactcactgtggacaacctgtttgtgaaagtggctgtctcaatggaggaaggtgt gtggccccaaatcgatgtgcatgcacttacggatttactggaccccagtgtgaaagagat tacaggacaggcccatgttttactgtgatcagcaaccagatgtgccagggacaactcagc gggattgtctgcacaaaaacgctctgctgtgccacagtcggccgagcctggggccacccc tgtgagatgtgtcctgcccagcctcacccctgccgccgtggcttcattccaaatatccgc acgggagcttgtcaagatgtggatgaatgccaggccatccccgggctctgtcagggagga aattgcattaatactgttgggtcttttgagtgcaaatgccctgctggacacaaacttaat gaagtgtcacaaaaatgtgaagatattgatgaatgcagcaccattcctggaatctgtgaa gggggtgaatgtacaaacacagtcagcagttacttttgcaaatgtccccctggtttttac acctctccagatggtaccagatgcatagatgttcgcccaggatactgttacacagctctg acaaacgggcgctgctctaaccagctgccacagtccataaccaaaatgcagtgctgctgt gatgccggccgatgctggtctccaggggtcactgtcgcccctgagatgtgtcccatcaga gcaaccgaggatttcaacaagctgtgctctgttcctatggtaattcctgggagaccagaa tatcctcccccaccccttggccccattcctccagttctccctgttcctcctggctttcct cctggacctcaaattccggtccctcgaccaccagtggaatatctgtatccatctcgggag ccaccaagggtgctgccagtaaacgttactgattactgccagttggtccgctatctctgt caaaatggacgctgcattccaactcctgggagttaccggtgtgagtgcaacaaagggttc cagctggacctccgtggggagtgtattgatgttgatgaatgtgagaaaaacccctgtgct ggtggtgagtgtattaacaaccagggttcgtacacctgtcagtgccgagctggatatcag agcacactcacgcggacagaatgccgagacattgatgagtgtttacagaatggccggatc tgcaataatggacgctgcatcaacacagatggcagttttcattgcgtgtgtaatgcgggc tttcatgttacacgagatgggaagaactgtgaagatatggatgaatgcagcataaggaac atgtgccttaatggaatgtgtatcaatgaagatggcagttttaaatgtatttgcaaacct ggattccagctggcatcagatggacgttattgcaaagacattaacgagtgtgaaacccct gggatctgcatgaatgggcgttgcgtcaacactgatggctcctacagatgtgaatgcttc cctggactggctgtgggtctggatggccgtgtgtgtgttgacacacacatgcggagcaca tgctatggtggatacaagagaggccagtgtatcaaacctttgtttggtgctgtcactaaa tctgaatgctgttgcgccagcactgagtatgcatttggggaaccttgccagccgtgtcct gcacagaattcagcggaatatcaggcactctgcagcagtgggccaggaatgacgtcagca ggcagtgatataaatgaatgtgcactagatcctgatatttgcccaaatggaatctgtgaa aaccttcgtgggacctataaatgtatatgcaattcaggatatgaagtggattcaactggg aaaaactgcgttgatattaatgaatgtgtactgaacagtctcctttgtgacaatggacaa tgtagaaatactcctggaagttttgtctgtacctgccccaagggatttatctacaaacct gatctaaaaacatgtgaagacattgatgaatgcgaatcaagtccttgcattaatggagtc tgcaagaacagcccaggctcttttatttgtgaatgttcttctgaaagtactttggatcca acaaaaaccatctgcatagaaaccatcaagggcacttgctggcagactgtcattgatggg cgatgtgagatcaacatcaatggagccaccttaaagtcccagtgctgctcctccctcggt gctgcgtggggaagcccgtgcaccctatgccaagttgatcccatatgtggtaaagggtac tcaagaattaaaggaacacaatgtgaagatatagatgaatgtgaagtgttcccaggagtg tgtaaaaatggcctgtgtgttaacactagggggtcattcaagtgtcagtgtcccagtgga atgactttggatgccacaggaaggatctgtcttgatatccgcctggaaacctgcttcctg aggtacgaggacgaggagtgcaccctgcctattgctggccgccaccgcatggacgcctgc tgctgctccgtcggggcagcctggggtactgaggaatgcgaggagtgtcccatgagaaat actcctgagtacgaggagctgtgtccgagaggacccggatttgccacaaaagaaattaca aatggaaagcctttcttcaaagatatcaatgagtgcaagatgatacccagcctctgcacc cacggcaagtgcagaaacaccattggcagctttaagtgcaggtgtgacagcggctttgct cttgattctgaagaaaggaactgcacagacattgacgaatgccgcatatctcctgacctc tgtggcagaggccagtgtgtgaacacccctggggactttgaatgcaagtgtgacgaaggc tatgaaagtggattcatgatgatgaagaactgcatggatattgatgagtgtcagagagat cctctcctatgccgaggtggtgtttgccataacacagagggaagttaccgctgtgaatgc ccgcctggccatcagctgtcccccaacatctccgcgtgtatcgacatcaatgaatgtgag ctgagtgcacacctgtgccccaatggccgttgcgtgaacctcatagggaagtatcagtgt gcctgcaaccctggctaccattcaactcccgataggctattttgtgttgacattgatgaa tgcagcataatgaatggtggttgtgaaaccttctgcacaaactctgaaggcagctatgaa tgtagctgtcagccgggatttgcactaatgcctgaccagagatcatgcaccgacatcgat gagtgtgaagataatcccaatatctgtgatggtggtcagtgcacaaatatccctggagag tacaggtgcttgtgttatgatggattcatggcatctgaagacatgaagacttgtgtagat gtcaatgagtgtgacctgaatccaaatatctgcctaagtgggacctgtgaaaacacgaaa ggctcatttatctgccactgtgatatgggctactccggcaaaaaaggaaaaactggctgt acagacatcaatgaatgtgaaattggagcacacaactgtggcaaacatgctgtatgtacc aatacagcaggaagcttcaaatgtagctgcagtcccgggtggattggagatggcattaag tgcactgatctggacgaatgttccaatggaacccatatgtgcagccagcatgcagactgc aagaataccatgggatcttaccgctgtctgtgcaaggaaggatacacaggtgatggcttc acttgtacagaccttgatgagtgctctgagaacctgaatctctgtggcaatggccagtgc ctcaatgcaccaggaggataccgctgtgaatgcgacatgggcttcgtgcccagtgctgac gggaaagcctgtgaagatattgatgagtgctcccttccgaacatctgtgtctttggaact tgccacaacctccctggcctgttccgctgtgagtgtgagataggctacgaactggacaga agcggcgggaactgcacagatgtgaatgaatgcctggatccaaccacgtgcatcagtggg aactgtgtcaacactccaggcagctatatctgtgactgcccacctgattttgaactgaac ccaactcgagttggctgtgttgatacccgctctggaaattgctatttggatattcgacct cgaggagacaatggagatacagcctgcagcaatgaaattggagttggtgtttccaaagct tcctgctgctgttctctgggtaaagcctggggtactccttgtgagatgtgtcctgctgtg aacacatccgagtacaaaattctttgtcctggaggggaaggtttccgaccaaatcctatc accgttatattggaagatattgatgagtgccaggagctaccagggctgtgccaaggagga aaatgtatcaacacctttgggagtttccagtgccgctgtccaaccggctactacctgaat gaagatacacgagtgtgtgatgatgtgaatgaatgtgagactcctggaatctgtggtcca gggacatgttacaacaccgttggcaactacacctgtatctgtcctccagactacatgcaa gtgaatgggggaaataattgcatggatatgagaagaagtttgtgctacagaaactactat gctgacaaccagacctgtgatggagaattgttattcaacatgaccaagaagatgtgctgc tgttcctacaacattggccgggcgtggaacaagccctgtgaacagtgtcccatcccaagt acagatgagtttgctacactctgtggaagtcaaaggccaggctttgtcatcgacatttat accggtttacccgttgatattgatgagtgccgggagatcccaggggtctgtgaaaatgga gtgtgtatcaacatggttggcagcttccgatgtgaatgtccagtgggattcttctataat gacaagttgttggtttgtgaagatattgacgagtgtcagaacggcccagtgtgccagcgc aacgccgaatgcatcaacactgcaggcagctaccgctgtgactgtaagcccggctaccgc ttcacctccacaggacagtgcaatgatcgtaatgaatgtcaagaaatccccaatatatgc agtcatgggcagtgcattgacacagttggaagcttttattgcctttgccacactggtttt aaaacaaatgatgaccaaaccatgtgcttggacataaatgaatgtgaaagagatgcctgt gggaatggaacttgccggaacacaattggttccttcaactgccgctgcaatcatggtttc atcctttctcacaacaatgactgtatagatgttgatgaatgtgcaagtggaaatgggaat ctttgcagaaatggccaatgcattaatacagtggggtctttccagtgccagtgcaatgaa ggctatgaggtggctccagatgggaggacctgtgtggatatcaatgaatgtcttctagaa cccagaaaatgtgcaccaggtacctgtcaaaacttggatgggtcctacagatgcatttgc ccacctggatacagtcttcaaaatgagaagtgtgaagatattgatgagtgtgtcgaagag ccagaaatttgtgccctgggcacatgcagtaacactgaaggcagcttcaaatgtctgtgt ccagaagggttttccttgtcctccagtggaagaaggtgccaagatttgcgaatgagctac tgttatgcgaagtttgaaggaggaaagtgttcatcacccaaatccagaaatcactccaag caggaatgctgctgtgccttgaagggagaaggctggggagacccctgcgagctctgcccc acggaacctgatgaggccttccgccagatatgtccttatggaagtgggatcatcgtggga cctgatgattcagcagttgatatggacgaatgcaaagaacccgatgtctgtaaacatgga cagtgcatcaatacagatggttcctatcgctgcgagtgtccctttggttatattctagca gggaatgaatgtgtagatactgatgaatgttctgttggcaatccttgtggaaatggaacc tgcaagaatgtgattggaggttttgaatgcacctgcgaggagggatttgagcccggtcca atgatgacatgtgaagatataaatgaatgtgcccagaatcctctgctctgtgccttccga tgtgtgaacacttatgggtcatatgaatgcaaatgtcccgtgggatatgtgctcagagaa gaccgtaggatgtgcaaagatgaggatgagtgtgaagagggaaaacatgactgtactgaa aaacaaatggaatgcaagaacctcattggcacatatatgtgcatctgtggacccgggtat cagcggagacctgatggagaaggctgtgtagatgagaatgaatgtcagacgaagccaggg atctgtgagaatgggcgctgcctcaacacccgtgggagctacacctgtgagtgtaatgat gggtttaccgccagccccaaccaggacgagtgccttgacaatcgggaagggtactgcttc acagaggtgctacaaaacatgtgtcagatcggctccagcaacaggaaccccgtcaccaaa tcggaatgctgctgtgacggagggagaggctggggtccccactgtgagatctgccctttc caggggactgtggctttcaagaaactctgtccccatggccgaggattcatgaccaatgga gcagatatcgatgaatgcaaggttattcacgatgtttgccgaaatggggaatgtgtcaat gacagaggatcatatcattgcatttgtaaaactgggtacactccagatataactgggact tcctgtgtagatctgaacgagtgcaaccaggctcccaaaccctgcaattttatctgcaaa aacacagaagggagttaccagtgttcatgcccgaaaggctacattctgcaagaggatgga aggagctgcaaagatcttgatgagtgtgcaaccaagcaacacaactgccagttcctatgt gttaacaccattggcggcttcacatgcaaatgtcctcccggatttacccaacaccatacg tcctgcattgataacaatgaatgcacctctgacatcaatctgtgcgggtctaagggcatt tgccagaacactcctggaagcttcacctgtgaatgccagcggggattctcacttgatcag accggctccagctgtgaagacgtggacgagtgtgagggtaaccaccgctgccagcatggc tgccagaacatcattgggggctacaggtgcagctgcccccagggctacctccagcactac cagtggaaccagtgtgttgatgaaaacgaatgcctcagcgctcacatctgcggaggagcc tcctgtcacaacaccctggggagctacaagtgcatgtgtcccgccggcttccagtatgaa cagttcagtggaggatgccaagacatcaatgaatgtggctctgcgcaggccccctgcagc tatggctgttccaataccgagggcggttacctgtgtggctgtccacctggttacttccgc ataggccaagggcactgtgtttctggaatgggcatgggccgaggaaacccagagccacct gtcagtggtgaaatggatgacaattcactctccccagaggcttgttacgagtgtaagatc aatggctaccccaaacggggcaggaaacggagaagcacaaacgaaactgatgcctccaat atcgaggatcagtctgagacagaagccaatgtgagtcttgcaagttgggatgttgagaag acagccatctttgctttcaatatttcccacgtcagtaacaaggttcgaatcctagaactc cttccagctcttacaactctgacgaatcacaacagatacttgatcgaatctggaaatgaa gatggcttctttaaaatcaaccaaaaggaagggatcagctacctccacttcacaaagaag aagccagtggctggaacctattcattacaaatcagtagtactccactttataaaaagaaa gaacttaaccaactagaagacaaatatgacaaagactacctcagtggtgaactgggtgat aatctgaagatgaaaatccaggttttgcttcattaa |
Protein Sequence | >2200 : length: 2871 MRRGRLLEIALGFTVLLASYTSHGADANLEAGNVKETRASRAKRRGGGGHDALKGPNVCG SRYNAYCCPGWKTLPGGNQCIVPICRHSCGDGFCSRPNMCTCPSGQIAPSCGSRSIQHCN IRCMNGGSCSDDHCLCQKGYIGTHCGQPVCESGCLNGGRCVAPNRCACTYGFTGPQCERD YRTGPCFTVISNQMCQGQLSGIVCTKTLCCATVGRAWGHPCEMCPAQPHPCRRGFIPNIR TGACQDVDECQAIPGLCQGGNCINTVGSFECKCPAGHKLNEVSQKCEDIDECSTIPGICE GGECTNTVSSYFCKCPPGFYTSPDGTRCIDVRPGYCYTALTNGRCSNQLPQSITKMQCCC DAGRCWSPGVTVAPEMCPIRATEDFNKLCSVPMVIPGRPEYPPPPLGPIPPVLPVPPGFP PGPQIPVPRPPVEYLYPSREPPRVLPVNVTDYCQLVRYLCQNGRCIPTPGSYRCECNKGF QLDLRGECIDVDECEKNPCAGGECINNQGSYTCQCRAGYQSTLTRTECRDIDECLQNGRI CNNGRCINTDGSFHCVCNAGFHVTRDGKNCEDMDECSIRNMCLNGMCINEDGSFKCICKP GFQLASDGRYCKDINECETPGICMNGRCVNTDGSYRCECFPGLAVGLDGRVCVDTHMRST CYGGYKRGQCIKPLFGAVTKSECCCASTEYAFGEPCQPCPAQNSAEYQALCSSGPGMTSA GSDINECALDPDICPNGICENLRGTYKCICNSGYEVDSTGKNCVDINECVLNSLLCDNGQ CRNTPGSFVCTCPKGFIYKPDLKTCEDIDECESSPCINGVCKNSPGSFICECSSESTLDP TKTICIETIKGTCWQTVIDGRCEININGATLKSQCCSSLGAAWGSPCTLCQVDPICGKGY SRIKGTQCEDIDECEVFPGVCKNGLCVNTRGSFKCQCPSGMTLDATGRICLDIRLETCFL RYEDEECTLPIAGRHRMDACCCSVGAAWGTEECEECPMRNTPEYEELCPRGPGFATKEIT NGKPFFKDINECKMIPSLCTHGKCRNTIGSFKCRCDSGFALDSEERNCTDIDECRISPDL CGRGQCVNTPGDFECKCDEGYESGFMMMKNCMDIDECQRDPLLCRGGVCHNTEGSYRCEC PPGHQLSPNISACIDINECELSAHLCPNGRCVNLIGKYQCACNPGYHSTPDRLFCVDIDE CSIMNGGCETFCTNSEGSYECSCQPGFALMPDQRSCTDIDECEDNPNICDGGQCTNIPGE YRCLCYDGFMASEDMKTCVDVNECDLNPNICLSGTCENTKGSFICHCDMGYSGKKGKTGC TDINECEIGAHNCGKHAVCTNTAGSFKCSCSPGWIGDGIKCTDLDECSNGTHMCSQHADC KNTMGSYRCLCKEGYTGDGFTCTDLDECSENLNLCGNGQCLNAPGGYRCECDMGFVPSAD GKACEDIDECSLPNICVFGTCHNLPGLFRCECEIGYELDRSGGNCTDVNECLDPTTCISG NCVNTPGSYICDCPPDFELNPTRVGCVDTRSGNCYLDIRPRGDNGDTACSNEIGVGVSKA SCCCSLGKAWGTPCEMCPAVNTSEYKILCPGGEGFRPNPITVILEDIDECQELPGLCQGG KCINTFGSFQCRCPTGYYLNEDTRVCDDVNECETPGICGPGTCYNTVGNYTCICPPDYMQ VNGGNNCMDMRRSLCYRNYYADNQTCDGELLFNMTKKMCCCSYNIGRAWNKPCEQCPIPS TDEFATLCGSQRPGFVIDIYTGLPVDIDECREIPGVCENGVCINMVGSFRCECPVGFFYN DKLLVCEDIDECQNGPVCQRNAECINTAGSYRCDCKPGYRFTSTGQCNDRNECQEIPNIC SHGQCIDTVGSFYCLCHTGFKTNDDQTMCLDINECERDACGNGTCRNTIGSFNCRCNHGF ILSHNNDCIDVDECASGNGNLCRNGQCINTVGSFQCQCNEGYEVAPDGRTCVDINECLLE PRKCAPGTCQNLDGSYRCICPPGYSLQNEKCEDIDECVEEPEICALGTCSNTEGSFKCLC PEGFSLSSSGRRCQDLRMSYCYAKFEGGKCSSPKSRNHSKQECCCALKGEGWGDPCELCP TEPDEAFRQICPYGSGIIVGPDDSAVDMDECKEPDVCKHGQCINTDGSYRCECPFGYILA GNECVDTDECSVGNPCGNGTCKNVIGGFECTCEEGFEPGPMMTCEDINECAQNPLLCAFR CVNTYGSYECKCPVGYVLREDRRMCKDEDECEEGKHDCTEKQMECKNLIGTYMCICGPGY QRRPDGEGCVDENECQTKPGICENGRCLNTRGSYTCECNDGFTASPNQDECLDNREGYCF TEVLQNMCQIGSSNRNPVTKSECCCDGGRGWGPHCEICPFQGTVAFKKLCPHGRGFMTNG ADIDECKVIHDVCRNGECVNDRGSYHCICKTGYTPDITGTSCVDLNECNQAPKPCNFICK NTEGSYQCSCPKGYILQEDGRSCKDLDECATKQHNCQFLCVNTIGGFTCKCPPGFTQHHT SCIDNNECTSDINLCGSKGICQNTPGSFTCECQRGFSLDQTGSSCEDVDECEGNHRCQHG CQNIIGGYRCSCPQGYLQHYQWNQCVDENECLSAHICGGASCHNTLGSYKCMCPAGFQYE QFSGGCQDINECGSAQAPCSYGCSNTEGGYLCGCPPGYFRIGQGHCVSGMGMGRGNPEPP VSGEMDDNSLSPEACYECKINGYPKRGRKRRSTNETDASNIEDQSETEANVSLASWDVEK TAIFAFNISHVSNKVRILELLPALTTLTNHNRYLIESGNEDGFFKINQKEGISYLHFTKK KPVAGTYSLQISSTPLYKKKELNQLEDKYDKDYLSGELGDNLKMKIQVLLH |