KEGG   Homo sapiens (human): 2201
Entry
2201              CDS       T01001                                 
Symbol
FBN2, CCA, DA9, EOMD
Name
(RefSeq) fibrillin 2
  KO
K23342  fibrillin 2/3
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
Disease
H00660  Congenital contractural arachnodactyly
H00811  Distal arthrogryposis
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    2201 (FBN2)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   00536 Glycosaminoglycan binding proteins [BR:hsa00536]
    2201 (FBN2)
Glycosaminoglycan binding proteins [BR:hsa00536]
 Heparan sulfate / Heparin
  Extracellular matrix molecules
   2201 (FBN2)
SSDB
Motif
Pfam: EGF_CA cEGF FXa_inhibition EGF hEGF TB EGF_3 Plasmod_Pvs28 Fibrillin_U_N FBN_EGF_st1 Cadherin
Other DBs
NCBI-GeneID: 2201
NCBI-ProteinID: NP_001990
OMIM: 612570
HGNC: 3604
Ensembl: ENSG00000138829
UniProt: P35556
Position
5:complement(128257909..128538245)
AA seq 2912 aa
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
NT seq 8739 nt   +upstreamnt  +downstreamnt
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

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (5)   
   KEGG DISEASE (2)   
   OMIM (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (47)   
   KEGG ORTHOLOGY (1)   
   RefGene (41)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   OC (1)   
Protein sequence (5)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (3)   
DNA sequence (37)   
   RefSeq(nuc) (3)   
   GenBank (17)   
   EMBL (17)   
Protein domain (11)   
   Pfam (11)   
All databases (109)   

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