Fibrillin-2

Details

Name
Fibrillin-2
Synonyms
Not Available
Gene Name
FBN2
Organism
Humans
Amino acid sequence
>lcl|BSEQ0049482|Fibrillin-2
MGRRRRLCLQLYFLWLGCVVLWAQGTAGQPQPPPPKPPRPQPPPQQVRSATAGSEGGFLA
PEYREEGAAVASRVRRRGQQDVLRGPNVCGSRFHSYCCPGWKTLPGGNQCIVPICRNSCG
DGFCSRPNMCTCSSGQISSTCGSKSIQQCSVRCMNGGTCADDHCQCQKGYIGTYCGQPVC
ENGCQNGGRCIGPNRCACVYGFTGPQCERDYRTGPCFTQVNNQMCQGQLTGIVCTKTLCC
ATIGRAWGHPCEMCPAQPQPCRRGFIPNIRTGACQDVDECQAIPGICQGGNCINTVGSFE
CRCPAGHKQSETTQKCEDIDECSIIPGICETGECSNTVGSYFCVCPRGYVTSTDGSRCID
QRTGMCFSGLVNGRCAQELPGRMTKMQCCCEPGRCWGIGTIPEACPVRGSEEYRRLCMDG
LPMGGIPGSAGSRPGGTGGNGFAPSGNGNGYGPGGTGFIPIPGGNGFSPGVGGAGVGAGG
QGPIITGLTILNQTIDICKHHANLCLNGRCIPTVSSYRCECNMGYKQDANGDCIDVDECT
SNPCTNGDCVNTPGSYYCKCHAGFQRTPTKQACIDIDECIQNGVLCKNGRCVNTDGSFQC
ICNAGFELTTDGKNCVDHDECTTTNMCLNGMCINEDGSFKCICKPGFVLAPNGRYCTDVD
ECQTPGICMNGHCINSEGSFRCDCPPGLAVGMDGRVCVDTHMRSTCYGGIKKGVCVRPFP
GAVTKSECCCANPDYGFGEPCQPCPAKNSAEFHGLCSSGVGITVDGRDINECALDPDICA
NGICENLRGSYRCNCNSGYEPDASGRNCIDIDECLVNRLLCDNGLCRNTPGSYSCTCPPG
YVFRTETETCEDINECESNPCVNGACRNNLGSFNCECSPGSKLSSTGLICIDSLKGTCWL
NIQDSRCEVNINGATLKSECCATLGAAWGSPCERCELDTACPRGLARIKGVTCEDVNECE
VFPGVCPNGRCVNSKGSFHCECPEGLTLDGTGRVCLDIRMEQCYLKWDEDECIHPVPGKF
RMDACCCAVGAAWGTECEECPKPGTKEYETLCPRGAGFANRGDVLTGRPFYKDINECKAF
PGMCTYGKCRNTIGSFKCRCNSGFALDMEERNCTDIDECRISPDLCGSGICVNTPGSFEC
ECFEGYESGFMMMKNCMDIDECERNPLLCRGGTCVNTEGSFQCDCPLGHELSPSREDCVD
INECSLSDNLCRNGKCVNMIGTYQCSCNPGYQATPDRQGCTDIDECMIMNGGCDTQCTNS
EGSYECSCSEGYALMPDGRSCADIDECENNPDICDGGQCTNIPGEYRCLCYDGFMASMDM
KTCIDVNECDLNSNICMFGECENTKGSFICHCQLGYSVKKGTTGCTDVDECEIGAHNCDM
HASCLNIPGSFKCSCREGWIGNGIKCIDLDECSNGTHQCSINAQCVNTPGSYRCACSEGF
TGDGFTCSDVDECAENINLCENGQCLNVPGAYRCECEMGFTPASDSRSCQDIDECSFQNI
CVFGTCNNLPGMFHCICDDGYELDRTGGNCTDIDECADPINCVNGLCVNTPGRYECNCPP
DFQLNPTGVGCVDNRVGNCYLKFGPRGDGSLSCNTEIGVGVSRSSCCCSLGKAWGNPCET
CPPVNSTEYYTLCPGGEGFRPNPITIILEDIDECQELPGLCQGGNCINTFGSFQCECPQG
YYLSEDTRICEDIDECFAHPGVCGPGTCYNTLGNYTCICPPEYMQVNGGHNCMDMRKSFC
YRSYNGTTCENELPFNVTKRMCCCTYNVGKAWNKPCEPCPTPGTADFKTICGNIPGFTFD
IHTGKAVDIDECKEIPGICANGVCINQIGSFRCECPTGFSYNDLLLVCEDIDECSNGDNL
CQRNADCINSPGSYRCECAAGFKLSPNGACVDRNECLEIPNVCSHGLCVDLQGSYQCICH
NGFKASQDQTMCMDVDECERHPCGNGTCKNTVGSYNCLCYPGFELTHNNDCLDIDECSSF
FGQVCRNGRCFNEIGSFKCLCNEGYELTPDGKNCIDTNECVALPGSCSPGTCQNLEGSFR
CICPPGYEVKSENCIDINECDEDPNICLFGSCTNTPGGFQCLCPPGFVLSDNGRRCFDTR
QSFCFTNFENGKCSVPKAFNTTKAKCCCSKMPGEGWGDPCELCPKDDEVAFQDLCPYGHG
TVPSLHDTREDVNECLESPGICSNGQCINTDGSFRCECPMGYNLDYTGVRCVDTDECSIG
NPCGNGTCTNVIGSFECNCNEGFEPGPMMNCEDINECAQNPLLCAFRCMNTFGSYECTCP
IGYALREDQKMCKDLDECAEGLHDCESRGMMCKNLIGTFMCICPPGMARRPDGEGCVDEN
ECRTKPGICENGRCVNIIGSYRCECNEGFQSSSSGTECLDNRQGLCFAEVLQTICQMASS
SRNLVTKSECCCDGGRGWGHQCELCPLPGTAQYKKICPHGPGYTTDGRDIDECKVMPNLC
TNGQCINTMGSFRCFCKVGYTTDISGTSCIDLDECSQSPKPCNYICKNTEGSYQCSCPRG
YVLQEDGKTCKDLDECQTKQHNCQFLCVNTLGGFTCKCPPGFTQHHTACIDNNECGSQPS
LCGAKGICQNTPGSFSCECQRGFSLDATGLNCEDVDECDGNHRCQHGCQNILGGYRCGCP
QGYIQHYQWNQCVDENECSNPNACGSASCYNTLGSYKCACPSGFSFDQFSSACHDVNECS
SSKNPCNYGCSNTEGGYLCGCPPGYYRVGQGHCVSGMGFNKGQYLSLDTEVDEENALSPE
ACYECKINGYSKKDSRQKRSIHEPDPTAVEQISLESVDMDSPVNMKFNLSHLGSKEHILE
LRPAIQPLNNHIRYVISQGNDDSVFRIHQRNGLSYLHTAKKKLMPGTYTLEITSIPLYKK
KELKKLEESNEDDYLLGELGEALRMRLQIQLY
Number of residues
2912
Molecular Weight
314772.155
Theoretical pI
Not Available
GO Classification
Functions
calcium ion binding / extracellular matrix constituent conferring elasticity / extracellular matrix structural constituent
Processes
bone trabecula formation / camera-type eye development / embryonic eye morphogenesis / embryonic limb morphogenesis / extracellular matrix disassembly / extracellular matrix organization / positive regulation of bone mineralization / positive regulation of osteoblast differentiation / regulation of cellular response to growth factor stimulus / sequestering of TGFbeta in extracellular matrix
Components
extracellular matrix / extracellular region / microfibril / proteinaceous extracellular matrix
General Function
Fibrillin-2: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process of elastic fiber assembly. Regulates osteoblast maturation by controlling TGF-beta bioavailability and calibrating TGF-beta and BMP levels, respectively.
Specific Function
Calcium ion binding
Pfam Domain Function
Transmembrane Regions
Not Available
Cellular Location
Secreted
Gene sequence
>lcl|BSEQ0049483|Fibrillin-2 (FBN2)
ATGGGGAGAAGACGGAGGCTGTGTCTCCAGCTCTACTTCCTGTGGCTGGGCTGTGTGGTG
CTCTGGGCGCAGGGCACGGCCGGCCAGCCTCAGCCTCCTCCGCCCAAGCCGCCCCGGCCC
CAGCCGCCGCCGCAACAGGTTCGGTCCGCTACAGCAGGCTCTGAAGGCGGGTTTCTAGCG
CCCGAGTATCGCGAGGAGGGTGCCGCAGTGGCCAGCCGCGTCCGCCGGCGAGGACAGCAG
GACGTGCTCCGAGGGCCCAACGTGTGCGGCTCCAGATTCCACTCCTACTGCTGCCCTGGA
TGGAAGACGCTCCCTGGAGGAAACCAGTGCATTGTCCCGATTTGTAGAAATAGTTGTGGA
GATGGATTTTGTTCCCGTCCTAACATGTGTACTTGTTCCAGTGGGCAAATATCATCAACC
TGTGGATCAAAATCAATTCAGCAGTGCAGTGTGAGATGCATGAATGGTGGGACCTGTGCA
GATGACCACTGCCAGTGCCAGAAAGGATATATTGGAACTTATTGTGGACAACCTGTCTGT
GAAAATGGATGTCAGAATGGTGGACGTTGCATCGGACCCAACCGCTGTGCTTGTGTTTAT
GGGTTCACTGGTCCACAGTGTGAAAGAGATTACAGGACAGGCCCGTGTTTCACTCAGGTC
AACAACCAGATGTGCCAAGGGCAGCTGACAGGCATTGTCTGCACGAAGACTCTGTGCTGT
GCCACCATTGGACGGGCGTGGGGCCATCCCTGTGAGATGTGTCCAGCCCAGCCTCAGCCC
TGCCGACGGGGTTTCATCCCCAACATCCGCACTGGAGCTTGCCAAGATGTTGATGAATGC
CAGGCTATCCCAGGGATATGCCAAGGAGGAAACTGTATCAATACAGTGGGCTCTTTTGAA
TGCAGATGCCCTGCTGGTCACAAACAGAGTGAAACTACTCAGAAATGTGAAGACATTGAT
GAGTGCAGCATCATTCCTGGGATATGTGAAACTGGTGAATGTTCCAACACCGTGGGAAGC
TATTTTTGTGTTTGTCCACGTGGATATGTAACCTCAACAGATGGCTCTCGATGCATCGAT
CAGAGAACAGGCATGTGTTTCTCGGGCCTGGTGAATGGCCGCTGTGCACAAGAGCTCCCG
GGGAGAATGACGAAAATGCAGTGCTGCTGTGAGCCTGGCCGCTGCTGGGGCATCGGAACC
ATTCCTGAAGCCTGTCCTGTCAGAGGTTCTGAGGAATATCGCAGACTTTGCATGGATGGA
CTTCCAATGGGAGGAATTCCAGGGAGTGCTGGTTCCAGACCTGGAGGCACTGGGGGAAAT
GGCTTTGCCCCAAGTGGCAATGGCAATGGCTATGGCCCAGGAGGGACAGGCTTCATCCCC
ATCCCTGGAGGCAATGGCTTTTCTCCTGGCGTTGGGGGAGCCGGTGTGGGGGCCGGGGGA
CAGGGACCTATCATCACTGGACTAACAATTCTGAACCAGACAATAGATATCTGTAAGCAT
CATGCTAACCTTTGTTTAAATGGACGCTGTATACCAACTGTCTCAAGCTACCGATGTGAA
TGCAACATGGGTTATAAGCAGGATGCAAATGGAGATTGTATAGATGTTGATGAATGCACA
TCAAATCCCTGCACTAATGGAGATTGTGTTAACACACCTGGTTCCTATTATTGTAAATGT
CATGCTGGATTCCAGAGGACTCCTACCAAGCAAGCATGCATTGATATTGATGAGTGCATC
CAGAATGGGGTTCTTTGTAAAAACGGTCGATGCGTGAACACAGATGGAAGTTTCCAGTGC
ATTTGCAATGCCGGCTTTGAATTAACTACAGATGGAAAAAACTGTGTTGATCATGATGAA
TGTACAACTACCAACATGTGTTTGAATGGAATGTGCATCAATGAAGATGGCAGCTTCAAG
TGCATCTGCAAACCAGGATTTGTCTTGGCTCCAAATGGGCGTTACTGTACTGATGTTGAT
GAATGCCAGACCCCAGGAATCTGCATGAATGGGCACTGCATCAACAGTGAAGGGTCCTTC
CGCTGTGACTGTCCCCCAGGCCTGGCTGTGGGCATGGATGGACGTGTGTGTGTTGATACT
CACATGCGCAGTACCTGCTATGGAGGAATCAAGAAAGGAGTGTGTGTGCGTCCTTTCCCC
GGTGCAGTGACCAAGTCCGAATGCTGCTGTGCCAATCCAGACTATGGTTTTGGAGAACCC
TGCCAGCCATGCCCTGCAAAAAATTCAGCTGAATTCCACGGCCTTTGTAGTAGTGGAGTA
GGTATCACTGTGGATGGAAGAGATATCAATGAATGTGCTTTGGATCCTGATATATGTGCC
AATGGGATTTGTGAAAACTTACGTGGTAGTTACCGTTGTAATTGCAACAGTGGCTATGAA
CCAGATGCCTCTGGAAGAAACTGTATTGACATTGATGAATGTTTAGTAAACAGACTGCTT
TGTGATAACGGATTGTGCCGAAACACGCCAGGAAGTTACAGCTGTACGTGCCCACCAGGG
TATGTGTTCAGGACTGAGACAGAGACCTGTGAAGATATAAATGAATGTGAAAGCAACCCA
TGTGTCAATGGGGCCTGCAGAAACAACCTTGGATCTTTCAATTGTGAATGTTCGCCCGGC
AGCAAACTCAGCTCCACAGGATTGATCTGTATTGACAGCCTGAAGGGGACCTGTTGGCTC
AACATCCAGGACAGCCGCTGTGAGGTGAATATTAATGGAGCCACTCTGAAATCTGAATGC
TGTGCCACCCTCGGAGCCGCCTGGGGGAGCCCCTGTGAGCGGTGTGAACTAGATACAGCT
TGCCCAAGAGGGCTTGCCAGGATTAAAGGTGTTACGTGTGAAGATGTTAATGAGTGTGAG
GTGTTCCCTGGCGTTTGTCCAAATGGACGCTGTGTCAACAGTAAGGGATCTTTTCATTGC
GAGTGCCCTGAAGGCCTTACGTTGGATGGGACTGGCCGTGTATGTTTGGATATTCGCATG
GAGCAGTGTTACTTGAAGTGGGATGAAGATGAATGCATCCACCCCGTTCCTGGAAAGTTC
CGCATGGATGCCTGCTGCTGTGCTGTCGGGGCGGCTTGGGGCACCGAGTGTGAGGAGTGC
CCCAAACCTGGCACCAAGGAATACGAGACGCTGTGCCCCCGCGGGGCTGGCTTTGCTAAC
CGAGGGGATGTTCTTACTGGGCGGCCATTTTACAAAGACATCAATGAATGCAAAGCATTT
CCTGGGATGTGCACTTATGGGAAGTGCAGAAATACAATCGGAAGCTTCAAATGCCGTTGC
AATAGTGGCTTTGCTCTAGACATGGAGGAAAGAAACTGCACGGACATCGACGAGTGCAGG
ATTTCTCCTGACCTCTGTGGCAGTGGAATCTGCGTCAATACACCGGGCAGCTTTGAGTGC
GAGTGCTTCGAAGGCTATGAAAGTGGCTTCATGATGATGAAGAACTGCATGGACATTGAC
GAATGTGAACGTAACCCTCTCCTTTGTAGGGGTGGCACCTGTGTGAACACTGAGGGCAGC
TTTCAGTGTGACTGCCCACTGGGACACGAGCTGTCACCATCCCGTGAGGACTGTGTGGAT
ATTAATGAATGCTCCCTGAGTGACAATCTCTGCAGAAATGGAAAATGTGTGAACATGATT
GGAACCTATCAGTGCTCTTGCAATCCTGGATATCAGGCTACGCCAGACCGCCAGGGCTGT
ACAGATATTGATGAATGTATGATAATGAACGGAGGCTGTGACACCCAGTGCACAAATTCA
GAGGGAAGCTACGAATGCAGCTGCAGTGAGGGTTATGCCCTGATGCCAGATGGGAGATCG
TGTGCAGACATTGATGAATGTGAAAACAATCCTGATATCTGTGATGGCGGCCAGTGTACC
AACATTCCTGGAGAGTATCGCTGCCTCTGCTATGATGGCTTCATGGCTTCCATGGACATG
AAAACATGCATTGATGTCAATGAATGTGACCTAAATTCAAATATCTGCATGTTTGGGGAA
TGTGAGAACACAAAGGGATCCTTCATTTGCCACTGTCAGCTGGGTTACTCAGTGAAGAAG
GGGACCACAGGATGTACAGATGTGGATGAGTGTGAAATTGGTGCTCATAACTGCGACATG
CATGCCTCATGTCTGAATATCCCAGGAAGCTTCAAGTGTAGCTGCAGAGAAGGCTGGATT
GGAAACGGCATCAAGTGTATTGATCTGGACGAATGTTCTAATGGAACCCACCAGTGTAGC
ATCAATGCTCAGTGTGTAAATACCCCGGGCTCATACCGCTGTGCCTGCTCCGAAGGTTTC
ACTGGTGATGGCTTTACCTGCTCAGATGTTGATGAGTGTGCAGAAAACATAAACCTCTGT
GAGAACGGACAGTGCCTTAATGTCCCGGGTGCATATCGCTGCGAGTGTGAGATGGGCTTC
ACTCCAGCCTCAGACAGCAGATCCTGCCAAGATATTGATGAATGCTCCTTCCAAAACATT
TGTGTCTTTGGAACATGTAATAACCTGCCTGGAATGTTTCATTGCATCTGCGATGATGGT
TATGAATTGGACAGAACAGGAGGGAACTGTACAGATATTGATGAGTGTGCAGATCCTATA
AACTGTGTCAATGGCCTATGTGTCAACACGCCTGGTCGCTATGAGTGTAACTGCCCACCC
GATTTTCAGTTGAACCCAACTGGTGTGGGTTGTGTTGACAACCGTGTGGGCAACTGCTAC
CTGAAGTTTGGACCTCGAGGAGATGGGAGTCTGTCTTGCAACACCGAGATCGGGGTGGGC
GTCAGTCGCTCTTCATGCTGCTGCTCTCTGGGAAAGGCCTGGGGAAACCCCTGTGAGACA
TGCCCCCCTGTCAATAGCACTGAATATTACACCCTGTGTCCCGGAGGTGAAGGCTTCAGA
CCTAACCCCATCACAATCATTTTAGAAGACATTGACGAATGCCAGGAGTTACCAGGTCTC
TGCCAGGGTGGAAACTGCATCAACACTTTTGGGAGCTTCCAGTGTGAGTGCCCACAAGGC
TACTACCTCAGCGAGGATACCCGCATCTGTGAAGATATTGATGAGTGTTTTGCACATCCT
GGTGTGTGTGGGCCTGGGACCTGCTATAACACCCTGGGAAATTACACCTGCATTTGCCCA
CCTGAGTACATGCAGGTCAATGGAGGCCACAACTGCATGGACATGAGAAAAAGCTTTTGC
TACCGAAGCTATAATGGAACCACTTGTGAGAATGAGTTGCCTTTCAATGTGACAAAAAGG
ATGTGCTGCTGCACATATAATGTGGGCAAAGCCTGGAACAAACCTTGTGAACCATGCCCA
ACTCCAGGAACAGCTGACTTTAAAACCATATGTGGAAATATTCCTGGATTCACCTTTGAC
ATTCACACAGGAAAAGCTGTTGACATTGATGAATGTAAAGAGATTCCAGGCATTTGTGCA
AATGGTGTGTGCATTAACCAGATTGGCAGTTTCCGCTGTGAATGCCCTACAGGATTCAGT
TACAATGACCTGCTGTTGGTTTGTGAAGATATAGATGAGTGCAGCAATGGTGATAATCTC
TGCCAGCGGAATGCAGACTGCATCAATAGTCCTGGTAGTTACCGCTGTGAATGTGCCGCG
GGTTTCAAACTTTCACCCAATGGGGCCTGTGTAGATCGCAATGAATGTTTAGAAATTCCT
AACGTTTGCAGTCATGGCTTGTGTGTTGATCTGCAAGGAAGTTACCAGTGCATCTGCCAC
AATGGCTTTAAGGCTTCTCAGGACCAGACCATGTGCATGGATGTTGATGAGTGCGAGCGG
CATCCATGTGGAAATGGAACTTGTAAAAACACCGTTGGATCCTATAACTGTCTGTGCTAC
CCAGGGTTTGAACTCACTCATAATAATGATTGCCTGGACATAGATGAGTGCAGTTCCTTT
TTTGGTCAGGTGTGCAGAAATGGACGTTGTTTTAATGAAATTGGTTCTTTCAAGTGTCTA
TGTAACGAAGGTTATGAACTTACCCCAGATGGCAAAAACTGTATAGACACTAATGAGTGT
GTCGCCCTTCCCGGCTCTTGCTCTCCTGGTACCTGTCAGAATTTGGAGGGATCCTTCAGA
TGCATCTGTCCCCCAGGGTATGAAGTAAAAAGCGAGAACTGCATTGATATAAATGAATGT
GATGAAGATCCCAACATTTGTCTTTTTGGTTCCTGTACTAATACTCCAGGGGGCTTCCAG
TGCCTCTGCCCCCCTGGCTTTGTACTATCTGATAATGGACGGAGATGCTTTGATACTCGC
CAGAGCTTCTGCTTCACAAATTTTGAAAATGGAAAGTGTTCTGTACCCAAAGCTTTCAAC
ACCACAAAAGCAAAATGCTGCTGTAGTAAGATGCCAGGAGAGGGCTGGGGGGACCCCTGT
GAGCTGTGCCCCAAAGACGATGAAGTTGCATTTCAGGATTTGTGTCCATATGGCCATGGA
ACTGTCCCTAGTCTTCATGATACACGTGAAGATGTCAATGAGTGTCTTGAGAGCCCAGGC
ATTTGTTCAAATGGTCAATGTATCAACACCGACGGATCTTTTCGCTGTGAATGTCCAATG
GGCTACAACCTTGACTACACTGGAGTACGCTGTGTGGATACTGATGAGTGTTCAATCGGC
AATCCGTGTGGAAATGGTACATGCACCAATGTTATTGGGAGTTTTGAATGCAATTGCAAT
GAAGGCTTTGAGCCAGGGCCCATGATGAATTGTGAAGATATCAACGAATGTGCCCAGAAC
CCACTGCTGTGTGCTTTCCGCTGCATGAACACTTTTGGGTCCTATGAATGCACGTGCCCG
ATTGGCTATGCCCTCAGGGAAGATCAAAAGATGTGCAAAGATCTGGATGAATGTGCTGAA
GGGTTACACGACTGTGAATCTAGGGGCATGATGTGTAAGAATCTAATCGGCACCTTCATG
TGCATCTGCCCTCCTGGAATGGCCCGAAGGCCCGATGGAGAAGGCTGTGTAGATGAAAAT
GAATGCAGGACCAAGCCAGGAATCTGTGAAAATGGACGTTGTGTTAACATTATTGGAAGC
TATAGATGTGAGTGTAATGAAGGATTCCAGTCAAGTTCTTCAGGCACTGAATGCCTTGAC
AATCGACAGGGTCTCTGCTTTGCAGAGGTACTGCAGACAATATGTCAAATGGCATCCAGT
AGTCGCAATCTCGTCACTAAGTCAGAATGCTGCTGTGATGGTGGGCGAGGCTGGGGCCAC
CAGTGCGAGCTTTGCCCACTTCCTGGAACTGCCCAGTACAAAAAGATATGTCCTCATGGC
CCAGGATATACAACTGATGGAAGAGATATTGATGAATGTAAGGTAATGCCAAACCTCTGC
ACCAATGGTCAGTGCATCAATACCATGGGCTCATTCCGATGCTTCTGCAAGGTTGGCTAC
ACCACAGACATCAGTGGAACCTCTTGTATAGACCTTGATGAATGCTCCCAGTCCCCGAAA
CCATGCAACTACATCTGCAAGAACACTGAGGGGAGTTATCAGTGTTCATGTCCGAGGGGG
TATGTCCTGCAAGAGGATGGAAAGACATGCAAAGACCTTGATGAATGTCAAACAAAGCAG
CATAACTGCCAGTTCCTCTGTGTCAACACCCTGGGGGGGTTTACCTGTAAATGTCCACCT
GGTTTCACACAGCATCACACTGCTTGTATCGACAACAACGAATGTGGGTCTCAACCTTCG
CTTTGTGGAGCAAAGGGAATCTGTCAAAACACTCCAGGCAGTTTCAGCTGTGAATGCCAA
AGAGGGTTCTCTCTTGATGCCACCGGACTGAACTGTGAAGATGTTGATGAATGTGATGGG
AACCACAGGTGCCAACACGGCTGCCAGAACATCCTGGGTGGCTACAGATGTGGCTGCCCC
CAAGGCTACATCCAGCACTACCAGTGGAATCAGTGTGTCGATGAGAATGAATGCTCCAAT
CCCAATGCCTGTGGCTCTGCTTCCTGCTACAACACCCTGGGGAGTTACAAGTGCGCCTGC
CCCTCGGGGTTCTCCTTCGACCAGTTCTCCAGTGCCTGCCACGACGTGAATGAGTGCTCG
TCCTCCAAGAACCCCTGCAATTACGGCTGCTCTAACACGGAGGGGGGCTACCTCTGTGGC
TGCCCCCCTGGGTATTACAGAGTGGGACAAGGCCACTGTGTCTCAGGAATGGGATTTAAC
AAGGGGCAGTACCTGTCACTGGATACAGAGGTCGATGAGGAAAATGCTCTGTCCCCAGAA
GCATGCTACGAGTGCAAAATCAACGGCTATTCTAAGAAAGACAGCAGGCAGAAGAGAAGT
ATTCATGAACCTGATCCCACTGCTGTTGAACAGATCAGCCTAGAGAGTGTCGACATGGAC
AGCCCCGTCAACATGAAGTTCAACCTCTCCCACCTCGGCTCTAAGGAGCACATCCTGGAA
CTAAGGCCCGCCATCCAGCCCCTCAACAACCACATCCGTTATGTCATCTCTCAAGGGAAC
GATGACAGCGTCTTCCGCATCCACCAAAGGAATGGGCTCAGCTACTTGCACACGGCCAAG
AAGAAGCTCATGCCCGGCACATACACACTGGAAATCACTAGCATCCCTCTCTACAAGAAG
AAGGAGCTTAAGAAACTGGAAGAGAGCAATGAGGATGACTACCTCCTAGGGGAGCTTGGG
GAGGCTCTCAGAATGAGGCTGCAGATTCAGCTCTATTAA
Chromosome Location
5
Locus
5q23.3
External Identifiers
ResourceLink
UniProtKB IDP35556
UniProtKB Entry NameFBN2_HUMAN
HGNC IDHGNC:3604
General References
  1. Zhang H, Apfelroth SD, Hu W, Davis EC, Sanguineti C, Bonadio J, Mecham RP, Ramirez F: Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. J Cell Biol. 1994 Mar;124(5):855-63. [Article]
  2. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [Article]
  3. Schmutz J, Martin J, Terry A, Couronne O, Grimwood J, Lowry S, Gordon LA, Scott D, Xie G, Huang W, Hellsten U, Tran-Gyamfi M, She X, Prabhakar S, Aerts A, Altherr M, Bajorek E, Black S, Branscomb E, Caoile C, Challacombe JF, Chan YM, Denys M, Detter JC, Escobar J, Flowers D, Fotopulos D, Glavina T, Gomez M, Gonzales E, Goodstein D, Grigoriev I, Groza M, Hammon N, Hawkins T, Haydu L, Israni S, Jett J, Kadner K, Kimball H, Kobayashi A, Lopez F, Lou Y, Martinez D, Medina C, Morgan J, Nandkeshwar R, Noonan JP, Pitluck S, Pollard M, Predki P, Priest J, Ramirez L, Retterer J, Rodriguez A, Rogers S, Salamov A, Salazar A, Thayer N, Tice H, Tsai M, Ustaszewska A, Vo N, Wheeler J, Wu K, Yang J, Dickson M, Cheng JF, Eichler EE, Olsen A, Pennacchio LA, Rokhsar DS, Richardson P, Lucas SM, Myers RM, Rubin EM: The DNA sequence and comparative analysis of human chromosome 5. Nature. 2004 Sep 16;431(7006):268-74. [Article]
  4. Lee B, Godfrey M, Vitale E, Hori H, Mattei MG, Sarfarazi M, Tsipouras P, Ramirez F, Hollister DW: Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature. 1991 Jul 25;352(6333):330-4. [Article]
  5. Hanssen E, Hew FH, Moore E, Gibson MA: MAGP-2 has multiple binding regions on fibrillins and has covalent periodic association with fibrillin-containing microfibrils. J Biol Chem. 2004 Jul 9;279(28):29185-94. Epub 2004 May 6. [Article]
  6. Sengle G, Charbonneau NL, Ono RN, Sasaki T, Alvarez J, Keene DR, Bachinger HP, Sakai LY: Targeting of bone morphogenetic protein growth factor complexes to fibrillin. J Biol Chem. 2008 May 16;283(20):13874-88. doi: 10.1074/jbc.M707820200. Epub 2008 Mar 13. [Article]
  7. Chen R, Jiang X, Sun D, Han G, Wang F, Ye M, Wang L, Zou H: Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. J Proteome Res. 2009 Feb;8(2):651-61. doi: 10.1021/pr8008012. [Article]
  8. Bader HL, Wang LW, Ho JC, Tran T, Holden P, Fitzgerald J, Atit RP, Reinhardt DP, Apte SS: A disintegrin-like and metalloprotease domain containing thrombospondin type 1 motif-like 5 (ADAMTSL5) is a novel fibrillin-1-, fibrillin-2-, and heparin-binding member of the ADAMTS superfamily containing a netrin-like module. Matrix Biol. 2012 Sep-Oct;31(7-8):398-411. doi: 10.1016/j.matbio.2012.09.003. Epub 2012 Sep 23. [Article]
  9. Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP Jr, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Leveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A: Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration. Hum Mol Genet. 2014 Nov 1;23(21):5827-37. doi: 10.1093/hmg/ddu276. Epub 2014 Jun 4. [Article]
  10. Pilecki B, Holm AT, Schlosser A, Moeller JB, Wohl AP, Zuk AV, Heumuller SE, Wallis R, Moestrup SK, Sengle G, Holmskov U, Sorensen GL: Characterization of Microfibrillar-associated Protein 4 (MFAP4) as a Tropoelastin- and Fibrillin-binding Protein Involved in Elastic Fiber Formation. J Biol Chem. 2016 Jan 15;291(3):1103-14. doi: 10.1074/jbc.M115.681775. Epub 2015 Nov 24. [Article]
  11. Putnam EA, Zhang H, Ramirez F, Milewicz DM: Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nat Genet. 1995 Dec;11(4):456-8. [Article]
  12. Park ES, Putnam EA, Chitayat D, Child A, Milewicz DM: Clustering of FBN2 mutations in patients with congenital contractural arachnodactyly indicates an important role of the domains encoded by exons 24 through 34 during human development. Am J Med Genet. 1998 Jul 24;78(4):350-5. [Article]
  13. Babcock D, Gasner C, Francke U, Maslen C: A single mutation that results in an Asp to His substitution and partial exon skipping in a family with congenital contractural arachnodactyly. Hum Genet. 1998 Jul;103(1):22-8. [Article]
  14. Belleh S, Zhou G, Wang M, Der Kaloustian VM, Pagon RA, Godfrey M: Two novel fibrillin-2 mutations in congenital contractural arachnodactyly. Am J Med Genet. 2000 May 1;92(1):7-12. [Article]
  15. Gupta PA, Putnam EA, Carmical SG, Kaitila I, Steinmann B, Child A, Danesino C, Metcalfe K, Berry SA, Chen E, Delorme CV, Thong MK, Ades LC, Milewicz DM: Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum Mutat. 2002 Jan;19(1):39-48. [Article]
  16. Callewaert BL, Loeys BL, Ficcadenti A, Vermeer S, Landgren M, Kroes HY, Yaron Y, Pope M, Foulds N, Boute O, Galan F, Kingston H, Van der Aa N, Salcedo I, Swinkels ME, Wallgren-Pettersson C, Gabrielli O, De Backer J, Coucke PJ, De Paepe AM: Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. Hum Mutat. 2009 Mar;30(3):334-41. doi: 10.1002/humu.20854. [Article]
  17. Sampson MG, Coughlin CR 2nd, Kaplan P, Conlin LK, Meyers KE, Zackai EH, Spinner NB, Copelovitch L: Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease. Am J Med Genet A. 2010 Oct;152A(10):2618-22. doi: 10.1002/ajmg.a.33628. [Article]
  18. Varela I, Tarpey P, Raine K, Huang D, Ong CK, Stephens P, Davies H, Jones D, Lin ML, Teague J, Bignell G, Butler A, Cho J, Dalgliesh GL, Galappaththige D, Greenman C, Hardy C, Jia M, Latimer C, Lau KW, Marshall J, McLaren S, Menzies A, Mudie L, Stebbings L, Largaespada DA, Wessels LF, Richard S, Kahnoski RJ, Anema J, Tuveson DA, Perez-Mancera PA, Mustonen V, Fischer A, Adams DJ, Rust A, Chan-on W, Subimerb C, Dykema K, Furge K, Campbell PJ, Teh BT, Stratton MR, Futreal PA: Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma. Nature. 2011 Jan 27;469(7331):539-42. doi: 10.1038/nature09639. Epub 2011 Jan 19. [Article]
  19. Liu W, Zhao N, Li XF, Wang H, Sui Y, Lu YP, Feng WH, Ma C, Han WT, Jiang M: A novel FBN2 mutation in a Chinese family with congenital contractural arachnodactyly. FEBS Open Bio. 2015 Mar 5;5:163-6. doi: 10.1016/j.fob.2015.02.005. eCollection 2015. [Article]
  20. Deng H, Lu Q, Xu H, Deng X, Yuan L, Yang Z, Guo Y, Lin Q, Xiao J, Guan L, Song Z: Identification of a Novel Missense FBN2 Mutation in a Chinese Family with Congenital Contractural Arachnodactyly Using Exome Sequencing. PLoS One. 2016 May 19;11(5):e0155908. doi: 10.1371/journal.pone.0155908. eCollection 2016. [Article]

Drug Relations

Drug Relations
DrugBank IDNameDrug groupPharmacological action?ActionsDetails
DB11093Calcium citrateapproved, investigationalnoligandDetails
DB11348Calcium PhosphateapprovednoligandDetails
DB14481Calcium phosphate dihydrateapprovednoDetails