KEGG   Homo sapiens (human): 2316Help
Entry
2316              CDS       T01001                                 

Gene name
FLNA, ABP-280, ABPX, CSBS, CVD1, FGS2, FLN, FLN-A, FLN1, FMD, MNS, NHBP, OPD, OPD1, OPD2, XLVD, XMVD
Definition
(RefSeq) filamin A
  KO
K04437  filamin
Organism
hsa  Homo sapiens (human)
Pathway
hsa04010  MAPK signaling pathway
hsa04510  Focal adhesion
hsa05132  Salmonella infection
hsa05205  Proteoglycans in cancer
Disease
H00270  Periventricular nodular heterotopia
H00456  Fronto-otopalatodigital syndromes
H00894  FG syndrome
H01276  Chronic idiopathic intestinal pseudo-obstruction
H01740  Macrothrombocytopenia
H02227  Frontometaphyseal dysplasia
H02229  Terminal osseous dysplasia
H02230  X-linked cardiac valvular dysplasia
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09130 Environmental Information Processing
  09132 Signal transduction
   04010 MAPK signaling pathway
    2316 (FLNA)
 09140 Cellular Processes
  09144 Cellular community - eukaryotes
   04510 Focal adhesion
    2316 (FLNA)
 09160 Human Diseases
  09161 Cancer: overview
   05205 Proteoglycans in cancer
    2316 (FLNA)
  09171 Infectious disease: bacterial
   05132 Salmonella infection
    2316 (FLNA)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    2316 (FLNA)
   04147 Exosome [BR:hsa04147]
    2316 (FLNA)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     2316 (FLNA)
  Intermediate filaments
   Intermediate filament-binding proteins
    2316 (FLNA)
Exosome [BR:hsa04147]
 Exosomal proteins
  Exosomal proteins of haemopoietic cells  (B-cell, T-cell, DC-cell, reticulocyte, and mast cell)
   2316 (FLNA)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: Filamin CH Y_Y_Y Big_3_5
Motif
Other DBs
NCBI-GeneID: 2316
NCBI-ProteinID: NP_001104026
OMIM: 300017
HGNC: 3754
Ensembl: ENSG00000196924
Vega: OTTHUMG00000022712
Pharos: P21333(Tbio)
UniProt: P21333 Q60FE5 Q6NXF2
Structure
PDB: 

Position
Xq28
AA seq 2647 aa AA seqDB search
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
NT seq 7944 nt NT seq  +upstreamnt  +downstreamnt
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

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