KEGG   Homo sapiens (human): 2318
Entry
2318              CDS       T01001                                 
Symbol
FLNC, ABP-280, ABP280A, ABPA, ABPL, ARVC15, CMH26, FLN2, MFM5, MPD4, RCM5
Name
(RefSeq) filamin C
  KO
K27393  filamin-C
Organism
hsa  Homo sapiens (human)
Pathway
hsa04820  Cytoskeleton in muscle cells
Disease
H00292  Hypertrophic cardiomyopathy
H00594  Distal myopathy
H00595  Myofibrillar myopathies
H01219  Restrictive cardiomyopathy
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09140 Cellular Processes
  09142 Cell motility
   04820 Cytoskeleton in muscle cells
    2318 (FLNC)
 09180 Brite Hierarchies
  09183 Protein families: signaling and cellular processes
   04812 Cytoskeleton proteins [BR:hsa04812]
    2318 (FLNC)
Cytoskeleton proteins [BR:hsa04812]
 Eukaryotic cytoskeleton proteins
  Actin filaments / Microfilaments
   Actin-binding proteins
    Cross-linking proteins
     2318 (FLNC)
  Intermediate filaments
   Intermediate filament-binding proteins
    2318 (FLNC)
SSDB
Motif
Pfam: Filamin CH Big_3_5 CFSR Invasin_D3 CH_2
Other DBs
NCBI-GeneID: 2318
NCBI-ProteinID: NP_001449
OMIM: 102565
HGNC: 3756
Ensembl: ENSG00000128591
UniProt: Q14315 Q59H94
Structure
Position
7:128830406..128859272
AA seq 2725 aa
MMNNSGYSDAGLGLGDETDEMPSTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVGKRLTDL
QRDLSDGLRLIALLEVLSQKRMYRKFHPRPNFRQMKLENVSVALEFLEREHIKLVSIDSK
AIVDGNLKLILGLIWTLILHYSISMPMWEDEDDEDARKQTPKQRLLGWIQNKVPQLPITN
FNRDWQDGKALGALVDNCAPGLCPDWEAWDPNQPVENAREAMQQADDWLGVPQVIAPEEI
VDPNVDEHSVMTYLSQFPKAKLKPGAPVRSKQLNPKKAIAYGPGIEPQGNTVLQPAHFTV
QTVDAGVGEVLVYIEDPEGHTEEAKVVPNNDKDRTYAVSYVPKVAGLHKVTVLFAGQNIE
RSPFEVNVGMALGDANKVSARGPGLEPVGNVANKPTYFDIYTAGAGTGDVAVVIVDPQGR
RDTVEVALEDKGDSTFRCTYRPAMEGPHTVHVAFAGAPITRSPFPVHVSEACNPNACRAS
GRGLQPKGVRVKEVADFKVFTKGAGSGELKVTVKGPKGTEEPVKVREAGDGVFECEYYPV
VPGKYVVTITWGGYAIPRSPFEVQVSPEAGVQKVRAWGPGLETGQVGKSADFVVEAIGTE
VGTLGFSIEGPSQAKIECDDKGDGSCDVRYWPTEPGEYAVHVICDDEDIRDSPFIAHILP
APPDCFPDKVKAFGPGLEPTGCIVDKPAEFTIDARAAGKGDLKLYAQDADGCPIDIKVIP
NGDGTFRCSYVPTKPIKHTIIISWGGVNVPKSPFRVNVGEGSHPERVKVYGPGVEKTGLK
ANEPTYFTVDCSEAGQGDVSIGIKCAPGVVGPAEADIDFDIIKNDNDTFTVKYTPPGAGR
YTIMVLFANQEIPASPFHIKVDPSHDASKVKAEGPGLNRTGVEVGKPTHFTVLTKGAGKA
KLDVQFAGTAKGEVVRDFEIIDNHDYSYTVKYTAVQQGNMAVTVTYGGDPVPKSPFVVNV
APPLDLSKIKVQGLNSKVAVGQEQAFSVNTRGAGGQGQLDVRMTSPSRRPIPCKLEPGGG
AEAQAVRYMPPEEGPYKVDITYDGHPVPGSPFAVEGVLPPDPSKVCAYGPGLKGGLVGTP
APFSIDTKGAGTGGLGLTVEGPCEAKIECQDNGDGSCAVSYLPTEPGEYTINILFAEAHI
PGSPFKATIRPVFDPSKVRASGPGLERGKVGEAATFTVDCSEAGEAELTIEILSDAGVKA
EVLIHNNADGTYHITYSPAFPGTYTITIKYGGHPVPKFPTRVHVQPAVDTSGVKVSGPGV
EPHGVLREVTTEFTVDARSLTATGGNHVTARVLNPSGAKTDTYVTDNGDGTYRVQYTAYE
EGVHLVEVLYDEVAVPKSPFRVGVTEGCDPTRVRAFGPGLEGGLVNKANRFTVETRGAGT
GGLGLAIEGPSEAKMSCKDNKDGSCTVEYIPFTPGDYDVNITFGGRPIPGSPFRVPVKDV
VDPGKVKCSGPGLGAGVRARVPQTFTVDCSQAGRAPLQVAVLGPTGVAEPVEVRDNGDGT
HTVHYTPATDGPYTVAVKYADQEVPRSPFKIKVLPAHDASKVRASGPGLNASGIPASLPV
EFTIDARDAGEGLLTVQILDPEGKPKKANIRDNGDGTYTVSYLPDMSGRYTITIKYGGDE
IPYSPFRIHALPTGDASKCLVTVSIGGHGLGACLGPRIQIGQETVITVDAKAAGEGKVTC
TVSTPDGAELDVDVVENHDGTFDIYYTAPEPGKYVITIRFGGEHIPNSPFHVLACDPLPH
EEEPSEVPQLRQPYAPPRPGARPTHWATEEPVVPVEPMESMLRPFNLVIPFAVQKGELTG
EVRMPSGKTARPNITDNKDGTITVRYAPTEKGLHQMGIKYDGNHIPGSPLQFYVDAINSR
HVSAYGPGLSHGMVNKPATFTIVTKDAGEGGLSLAVEGPSKAEITCKDNKDGTCTVSYLP
TAPGDYSIIVRFDDKHIPGSPFTAKITGDDSMRTSQLNVGTSTDVSLKITESDLSQLTAS
IRAPSGNEEPCLLKRLPNRHIGISFTPKEVGEHVVSVRKSGKHVTNSPFKILVGPSEIGD
ASKVRVWGKGLSEGHTFQVAEFIVDTRNAGYGGLGLSIEGPSKVDINCEDMEDGTCKVTY
CPTEPGTYIINIKFADKHVPGSPFTVKVTGEGRMKESITRRRQAPSIATIGSTCDLNLKI
PGNWFQMVSAQERLTRTFTRSSHTYTRTERTEISKTRGGETKREVRVEESTQVGGDPFPA
VFGDFLGRERLGSFGSITRQQEGEASSQDMTAQVTSPSGKVEAAEIVEGEDSAYSVRFVP
QEMGPHTVAVKYRGQHVPGSPFQFTVGPLGEGGAHKVRAGGTGLERGVAGVPAEFSIWTR
EAGAGGLSIAVEGPSKAEIAFEDRKDGSCGVSYVVQEPGDYEVSIKFNDEHIPDSPFVVP
VASLSDDARRLTVTSLQETGLKVNQPASFAVQLNGARGVIDARVHTPSGAVEECYVSELD
SDKHTIRFIPHENGVHSIDVKFNGAHIPGSPFKIRVGEQSQAGDPGLVSAYGPGLEGGTT
GVSSEFIVNTLNAGSGALSVTIDGPSKVQLDCRECPEGHVVTYTPMAPGNYLIAIKYGGP
QHIVGSPFKAKVTGPRLSGGHSLHETSTVLVETVTKSSSSRGSSYSSIPKFSSDASKVVT
RGPGLSQAFVGQKNSFTVDCSKAGTNMMMVGVHGPKTPCEEVYVKHMGNRVYNVTYTVKE
KGDYILIVKWGDESVPGSPFKVKVP
NT seq 8178 nt   +upstreamnt  +downstreamnt
atgatgaacaacagcggctactcagacgccggcctcggcctgggcgatgagacagacgag
atgccgtccacggagaaggacctggcggaggacgcgccgtggaagaagatccagcagaac
acattcacgcgctggtgcaatgagcacctcaagtgcgtgggcaagcgcctgaccgacctg
cagcgcgacctcagcgacgggctccggctcatcgcgctgctcgaggtgctcagccagaag
cgcatgtaccgcaagttccatccgcgccccaacttccgccaaatgaagctggagaacgtg
tccgtggccctcgagttcctcgagcgcgagcacatcaagctcgtgtccatagacagcaag
gccatcgtggatgggaacctgaagctgatcctgggcctgatctggacgctgatcctgcac
tactccatctccatgcccatgtgggaggatgaagatgatgaggatgcccgcaaacagacg
cccaagcagcggctgcttggctggatccagaacaaggtgccccagctgcccatcaccaac
ttcaaccgtgactggcaggacggcaaagctctgggcgccctggtggacaactgcgccccc
ggtctctgccccgactgggaggcctgggaccccaaccagcccgtggagaacgcccgggag
gccatgcagcaggccgacgactggcttggggtgccccaggtcattgcccctgaggagatt
gtggaccccaacgtggatgagcattctgttatgacctacctgtcccagttccccaaggcc
aagctcaaacctggtgcccctgttcgatccaagcagctgaaccccaagaaagccatcgcc
tatgggcctggcatcgagccacagggcaacaccgtgctgcagcctgcccacttcaccgtg
cagacggtggacgcgggcgtgggcgaggtgctggtctacatcgaggaccctgaaggccac
accgaggaggctaaggtggttcccaacaatgacaaggatcgcacctatgctgtctcctat
gtgcccaaggtcgctgggttacacaaggtgaccgtgctctttgctggccagaacattgaa
cgcagtccctttgaggtgaacgtgggcatggccctgggagatgccaacaaggtgtcagcc
cgtggccctggcctggaacctgtgggcaatgtggccaacaaacccacctactttgacatc
tacactgcgggggccggcactggcgatgttgctgtggtgatcgtggacccacagggccgg
cgggacacagtggaggtggccctggaggacaagggtgacagcacgttccgctgcacatac
agacctgccatggaggggccacataccgtgcatgtggcctttgcgggtgcccccatcacc
cgcagtcccttccctgtccatgtgtcggaagcctgtaaccccaacgcctgccgcgcctct
gggcgaggcctgcagcccaagggtgttcgcgtgaaagaggtggctgacttcaaggtgttt
accaagggtgccggcagcggggagctcaaggtcacggtcaaggggccaaagggcacagag
gagccagtgaaggtgcgggaggctggggatggtgtgttcgagtgcgagtactacccggtg
gtgcctgggaagtatgtggtgaccatcacgtggggcggctacgccatccctcgcagcccc
tttgaggtacaggtgagcccagaggcaggagtgcaaaaggtccgggcctggggtcctggt
ttggagactggccaggtgggcaagtcagccgattttgtggtggaagccattggcaccgag
gtggggacactgggcttctccatcgaggggccctcacaagccaagatcgaatgtgacgac
aagggggatggctcctgcgatgtgcggtactggcccacggagcctggggagtacgctgtg
cacgtcatctgtgacgatgaggacatccgagactcacccttcattgcccacatcctgccc
gccccacctgactgcttcccagataaggtgaaggcctttgggcctggcctggagcctacc
ggctgcatcgtggacaagcccgctgagttcaccattgatgctcgtgcagctggcaaggga
gacctgaagctctatgcccaggacgccgacggctgtcccatcgacatcaaggtgatcccc
aacggcgacggcaccttccgctgctcctacgtgcccaccaagcccattaagcacaccatc
atcatctcctggggaggcgtaaacgtgcccaagagccccttccgggtgaacgtgggcgag
ggcagccaccccgagcgggtaaaggtgtacggccccggagtggagaagacaggcctcaag
gccaatgagcccacctacttcacggtggactgcagcgaggcggggcaaggcgacgtgagc
atcggcatcaagtgcgccccaggcgtggtgggccctgcagaggctgacattgacttcgac
atcatcaagaatgacaacgacaccttcaccgtcaagtacacgccaccaggggcgggccgc
tacaccatcatggtgctgtttgccaaccaggagatccccgccagccccttccacatcaag
gtggacccatcccacgatgccagcaaagtcaaggccgagggccctgggctgaatcgcaca
ggtgtggaagtcgggaagcccacccacttcacggtgctgaccaagggagccggcaaggcc
aagctggatgtgcagtttgcagggacagccaagggcgaggttgtgcgggactttgagatc
atagacaaccatgactactcctacactgtcaagtacaccgctgtccagcagggcaacatg
gcagtgacagtgacttatggcggggaccctgtccccaagagcccctttgtggtgaatgtg
gcacccccgctggacctcagcaaaatcaaagttcagggccttaatagcaaggtggctgtg
ggacaggaacaagcattctctgtgaacacacgaggggctggcggtcagggccaactggat
gtgcggatgacttcgccctctcgccggcccatcccctgcaagctggagccaggcggtgga
gcggaagcccaggctgtgcgctacatgcccccggaggaggggccctacaaggtggatatc
acctacgatggtcacccggtgcctggcagcccgtttgctgtggagggtgtcctgccccct
gatccctccaaggtctgtgcttatggcccgggtctcaagggtggactggtaggcaccccc
gcgccattctccatcgacaccaagggggctggcacaggtggcctggggctgaccgtagag
ggcccctgcgaggccaagatcgagtgccaggacaatggtgatggctcatgtgctgtcagc
tacctgcccacggagcctggcgagtacaccatcaacatcctgtttgctgaggcccacatc
cctggctcgcccttcaaagccaccattcggcctgtgtttgacccgagcaaggtgcgggcc
agtggaccgggcctggagcgcggcaaggtcggtgaggcagccaccttcactgtggactgc
tcagaggcaggcgaggcggagctgaccattgagatcctgtcggatgccggggtcaaggcc
gaggtgctgatccacaacaacgcggatggcacctaccacatcacctacagccctgccttc
cctggcacctacaccattaccatcaagtatggcgggcatcccgtgcccaaattccccacc
cgtgtccatgtgcagcctgcggtcgataccagtggcgtcaaggtctcagggcctggtgtt
gagccacacggtgtcctgcgggaggtgaccactgagttcactgtggatgcaagatcccta
acagccacaggcggcaaccacgtgacggctcgtgtgctcaacccctcgggggccaagaca
gacacctatgtgacagacaatggggacggcacctaccgagtgcagtacaccgcctacgag
gagggcgtgcatctggtggaggtcctgtatgatgaggtcgctgtgcccaagagccccttc
cgagtgggcgtgaccgagggctgtgatcccacccgcgtccgagccttcgggccaggcctg
gagggtggcttggtcaacaaggccaaccgattcactgtggagaccaggggagcgggcacc
gggggccttggcctagccatcgagggtccctcggaagccaagatgtcctgcaaggacaac
aaggatggtagctgcaccgtggagtacatccccttcactcctggagactatgacgtcaac
atcaccttcggggggcggcccatcccagggagcccgttccgcgtgccagtgaaggatgtg
gtggaccctgggaaggtgaagtgctcagggccagggctgggggctggtgtcagggcccgg
gttcctcagaccttcacagtggattgcagtcaagctggccgggcgcccctgcaggtggct
gtgctgggccccacaggtgtggccgagcctgtggaggtgcgggacaatggagatggcacc
cacactgtccactacaccccagccactgacgggccctacacggtagccgtcaagtatgct
gaccaggaggtgccacgcagccccttcaagatcaaggtcctcccagctcatgatgccagc
aaggtgcgggccagcggcccaggcctcaacgcctctggcatccctgccagcctgcctgtg
gagttcaccatcgacgcacgggacgcgggcgaggggttgctcactgtccagatcttggac
cccgagggtaagcccaagaaggccaacatccgggacaatggggatggcacgtacactgtg
tcctacctgccggacatgagtggccggtacaccatcaccatcaagtatggcggtgatgag
atcccctactcgcccttccgcatccatgctctgcccactggggatgccagcaagtgcctc
gtcacagtgtccattggaggccatggcctgggtgcctgcctgggccctcgaatccagatt
gggcaggagacggtgatcacggtggatgccaaggcagccggtgaggggaaggtgacatgc
acggtgtccacgccggatggggcagagctcgatgtggatgtggttgagaaccatgacggt
acctttgacatctactacacagcgcccgagccgggcaagtacgtcatcaccatccgcttc
gggggtgagcacatccccaacagccccttccacgtgctggcgtgtgaccccctgccgcac
gaggaggagccctctgaagtgccacagctgcgccagccctacgctcctccccggcccggc
gcccgccccacacactgggccacagaggagccagtggtgcctgtggagccaatggagtcc
atgctgaggcccttcaacctggtcatccccttcgcggtgcagaaaggggagctcacagga
gaggtgcggatgccctcggggaagacggcacggcccaacatcaccgacaacaaggacggc
accatcacggtgaggtatgcacccactgagaaaggcctgcaccagatggggatcaagtat
gacggcaaccacatccctgggagccccttacagttctatgtggatgccatcaacagccgc
catgtcagtgcctatgggccaggcctgagccatggcatggtcaacaagccagccaccttc
actattgtcaccaaagatgctggagaagggggtctgtcactggccgtggagggcccatcc
aaggcagagatcacctgtaaggacaacaaggatggcacctgcaccgtgtcctatctgccg
actgcgcctggagactacagcatcatcgtgcgcttcgatgacaagcacatcccggggagc
cccttcacagccaagatcacaggtgatgactccatgaggacctcacagctgaatgtgggc
acctccacggacgtgtcactgaagatcaccgagagtgatctgagccagctgaccgccagc
atccgtgccccctcgggcaacgaggagccctgcctgctgaagcgcctgcccaaccggcac
attgggatctccttcacccccaaggaggtcggggagcacgtggtgagcgtgcgcaagagt
ggcaagcatgtcaccaacagccccttcaagatcctggtggggccatctgagatcggggac
gccagcaaggtgcgggtctggggcaaggggctttccgagggacacacattccaggtggca
gagttcatcgtggacactcgcaatgcaggttatgggggcttggggctgagtattgaaggc
ccaagcaaggtggacatcaactgtgaggacatggaggacgggacatgcaaagtcacctac
tgccccaccgagcccggcacctacatcatcaacatcaagtttgctgacaagcacgtgcct
ggaagccccttcactgtgaaggtgaccggcgagggccgcatgaaggagagcatcacccgg
cggagacaggcaccttccatcgccaccatcggcagcacctgtgacctcaacctcaagatc
ccaggaaactggttccagatggtgtctgcccaggagcgcctgacacgcaccttcacacgc
agcagccacacctacacccgcacggagcgcacggagatcagcaagacgcggggcggggag
acaaagcgcgaggtgcgggtggaggagtccacccaggtcggcggggaccccttccctgct
gtgtttggggacttcctgggccgggagcgcctgggatccttcggcagcatcacccggcag
caggagggtgaggccagctctcaggacatgactgcacaggtgaccagcccatcgggcaag
gtggaagccgcagagatcgtcgagggcgaggacagcgcctacagcgtgcgctttgtgccc
caggaaatggggccccatacggtcgctgtcaagtaccgtggccagcacgtgcccggcagc
ccctttcagttcactgtggggccgctgggtgaaggtggtgcccacaaggtgcgggccgga
ggcacagggctggagcgaggtgtggccggcgtgccagccgagttcagcatctggacccgg
gaggctggcgctgggggcctgtccattgctgtggagggtcctagcaaagcggagattgca
tttgaggatcgcaaagatggctcctgcggcgtctcctatgtcgtccaggaaccaggtgac
tatgaggtctccatcaagttcaatgatgagcacatcccagacagcccctttgtggtgcct
gtggcctccctctcggatgacgctcgccgtctcactgtcaccagcctccaggagacgggg
ctcaaggtgaaccagccagcgtcctttgccgtgcagctgaacggtgcccggggcgtgatt
gatgcccgggtgcacacaccctcgggggctgtggaggagtgctacgtctctgagctggac
agtgacaagcacaccatccgcttcatcccccacgagaatggcgtccactccatcgatgtc
aagttcaacggtgcccacatccctggaagtcccttcaagatccgcgttggggagcagagc
caggctggggacccaggcttggtgtcagcctacggtcctgggctcgagggaggcactacc
ggtgtgtcatcagagttcatcgtgaacaccctgaatgccggctcgggggccttgtctgtc
accattgatggcccctccaaggtgcagctggactgtcgggagtgtcctgagggccatgtg
gtcacttatactcccatggcccctggcaactacctcattgccatcaagtacggtggcccc
cagcacatcgtgggcagccccttcaaggccaaggtcactggtccgaggctgtccggaggc
cacagccttcacgaaacatccacggttctggtggagactgtgaccaagtcctcctcaagc
cggggctccagctacagctccatccccaagttctcctcagatgccagcaaggtggtgact
cggggccctgggctgtcccaggccttcgtgggccagaagaactccttcaccgtggactgc
agcaaagcaggcaccaacatgatgatggtgggcgtgcacggccccaagaccccctgtgag
gaggtgtacgtgaagcacatggggaaccgggtgtacaatgtcacctacactgtcaaggag
aaaggggactacatcctcattgtcaagtggggtgacgaaagtgtccctggaagccccttc
aaagtcaaggtcccttga

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Ontology (2)   
   KEGG BRITE (2)   
Pathway (1)   
   KEGG PATHWAY (1)   
Disease (8)   
   KEGG DISEASE (4)   
   OMIM (4)   
Genome (1)   
   KEGG GENOME (1)   
Gene (27)   
   KEGG ORTHOLOGY (1)   
   RefGene (20)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (5)   
   UniProt (2)   
   SWISS-PROT (1)   
   RefSeq(pep) (2)   
DNA sequence (22)   
   RefSeq(nuc) (2)   
   GenBank (10)   
   EMBL (10)   
3D Structure (13)   
   PDB (13)   
Protein domain (6)   
   Pfam (6)   
All databases (85)   

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