Homo sapiens (human): 2201
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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)
BRITE hierarchy
SSDB
Ortholog
Paralog
Gene cluster
GFIT
Motif
Pfam:
EGF_CA
cEGF
FXa_inhibition
EGF
hEGF
TB
EGF_3
Plasmod_Pvs28
Fibrillin_U_N
FBN_EGF_st1
Cadherin
Motif
Other DBs
NCBI-GeneID:
2201
NCBI-ProteinID:
NP_001990
OMIM:
612570
HGNC:
3604
Ensembl:
ENSG00000138829
UniProt:
P35556
LinkDB
All DBs
Position
5:complement(128257909..128538245)
Genome browser
AA seq
2912 aa
AA seq
DB search
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
NT seq
+upstream
nt +downstream
nt
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
DBGET
integrated database retrieval system