• Gene id: 2318

Gene Summary

• Gene Symbol: FLNC   Gene   UCSC   Ensembl
• Aliases: ABP-280, ABP280A, ABPA, ABPL, CMH26, FLN2, MFM5, MPD4, RCM5
• Gene name: filamin C
• Alternate names: filamin-C, ABP-280-like protein, ABP-L, gamma filamin, actin binding protein 280, filamin C, gamma, filamin-2, gamma filamin,
• Gene location: 7q32.1 (128830405: 128859273)     Exons: 48     NC_000007.14
• Gene summary(Entrez): This gene encodes one of three related filamin genes, specifically gamma filamin. These filamin proteins crosslink actin filaments into orthogonal networks in cortical cytoplasm and participate in the anchoring of membrane proteins for the actin cytoskele
• OMIM: 102565

Protein Summary

• Protein general information: Q14315  
  • Name: Filamin C (FLN C) (FLNc) (ABP 280 like protein) (ABP L) (Actin binding like protein) (Filamin 2) (Gamma filamin)
  • Length: 2725  
  • Mass: 291022
  • Tissue specificity: Highly expressed in striated muscles. Weakly expressed in thyroid, fetal brain, fetal lung, retina, spinal cord and bone marrow. Not expressed in testis, pancreas, adrenal gland, placenta, liver and kidney. {ECO
• Sequence:

  MMNNSGYSDAGLGLGDETDEMPSTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVGKRLTDLQRDLSDGLRLIALLE
  VLSQKRMYRKFHPRPNFRQMKLENVSVALEFLEREHIKLVSIDSKAIVDGNLKLILGLIWTLILHYSISMPMWED
  EDDEDARKQTPKQRLLGWIQNKVPQLPITNFNRDWQDGKALGALVDNCAPGLCPDWEAWDPNQPVENAREAMQQA
  DDWLGVPQVIAPEEIVDPNVDEHSVMTYLSQFPKAKLKPGAPVRSKQLNPKKAIAYGPGIEPQGNTVLQPAHFTV
  QTVDAGVGEVLVYIEDPEGHTEEAKVVPNNDKDRTYAVSYVPKVAGLHKVTVLFAGQNIERSPFEVNVGMALGDA
  NKVSARGPGLEPVGNVANKPTYFDIYTAGAGTGDVAVVIVDPQGRRDTVEVALEDKGDSTFRCTYRPAMEGPHTV
  HVAFAGAPITRSPFPVHVSEACNPNACRASGRGLQPKGVRVKEVADFKVFTKGAGSGELKVTVKGPKGTEEPVKV
  REAGDGVFECEYYPVVPGKYVVTITWGGYAIPRSPFEVQVSPEAGVQKVRAWGPGLETGQVGKSADFVVEAIGTE
  VGTLGFSIEGPSQAKIECDDKGDGSCDVRYWPTEPGEYAVHVICDDEDIRDSPFIAHILPAPPDCFPDKVKAFGP
  GLEPTGCIVDKPAEFTIDARAAGKGDLKLYAQDADGCPIDIKVIPNGDGTFRCSYVPTKPIKHTIIISWGGVNVP
  KSPFRVNVGEGSHPERVKVYGPGVEKTGLKANEPTYFTVDCSEAGQGDVSIGIKCAPGVVGPAEADIDFDIIKND
  NDTFTVKYTPPGAGRYTIMVLFANQEIPASPFHIKVDPSHDASKVKAEGPGLNRTGVEVGKPTHFTVLTKGAGKA
  KLDVQFAGTAKGEVVRDFEIIDNHDYSYTVKYTAVQQGNMAVTVTYGGDPVPKSPFVVNVAPPLDLSKIKVQGLN
  SKVAVGQEQAFSVNTRGAGGQGQLDVRMTSPSRRPIPCKLEPGGGAEAQAVRYMPPEEGPYKVDITYDGHPVPGS
  PFAVEGVLPPDPSKVCAYGPGLKGGLVGTPAPFSIDTKGAGTGGLGLTVEGPCEAKIECQDNGDGSCAVSYLPTE
  PGEYTINILFAEAHIPGSPFKATIRPVFDPSKVRASGPGLERGKVGEAATFTVDCSEAGEAELTIEILSDAGVKA
  EVLIHNNADGTYHITYSPAFPGTYTITIKYGGHPVPKFPTRVHVQPAVDTSGVKVSGPGVEPHGVLREVTTEFTV
  DARSLTATGGNHVTARVLNPSGAKTDTYVTDNGDGTYRVQYTAYEEGVHLVEVLYDEVAVPKSPFRVGVTEGCDP
  TRVRAFGPGLEGGLVNKANRFTVETRGAGTGGLGLAIEGPSEAKMSCKDNKDGSCTVEYIPFTPGDYDVNITFGG
  RPIPGSPFRVPVKDVVDPGKVKCSGPGLGAGVRARVPQTFTVDCSQAGRAPLQVAVLGPTGVAEPVEVRDNGDGT
  HTVHYTPATDGPYTVAVKYADQEVPRSPFKIKVLPAHDASKVRASGPGLNASGIPASLPVEFTIDARDAGEGLLT
  VQILDPEGKPKKANIRDNGDGTYTVSYLPDMSGRYTITIKYGGDEIPYSPFRIHALPTGDASKCLVTVSIGGHGL
  GACLGPRIQIGQETVITVDAKAAGEGKVTCTVSTPDGAELDVDVVENHDGTFDIYYTAPEPGKYVITIRFGGEHI
  PNSPFHVLACDPLPHEEEPSEVPQLRQPYAPPRPGARPTHWATEEPVVPVEPMESMLRPFNLVIPFAVQKGELTG
  EVRMPSGKTARPNITDNKDGTITVRYAPTEKGLHQMGIKYDGNHIPGSPLQFYVDAINSRHVSAYGPGLSHGMVN
  KPATFTIVTKDAGEGGLSLAVEGPSKAEITCKDNKDGTCTVSYLPTAPGDYSIIVRFDDKHIPGSPFTAKITGDD
  SMRTSQLNVGTSTDVSLKITESDLSQLTASIRAPSGNEEPCLLKRLPNRHIGISFTPKEVGEHVVSVRKSGKHVT
  NSPFKILVGPSEIGDASKVRVWGKGLSEGHTFQVAEFIVDTRNAGYGGLGLSIEGPSKVDINCEDMEDGTCKVTY
  CPTEPGTYIINIKFADKHVPGSPFTVKVTGEGRMKESITRRRQAPSIATIGSTCDLNLKIPGNWFQMVSAQERLT
  RTFTRSSHTYTRTERTEISKTRGGETKREVRVEESTQVGGDPFPAVFGDFLGRERLGSFGSITRQQEGEASSQDM
  TAQVTSPSGKVEAAEIVEGEDSAYSVRFVPQEMGPHTVAVKYRGQHVPGSPFQFTVGPLGEGGAHKVRAGGTGLE
  RGVAGVPAEFSIWTREAGAGGLSIAVEGPSKAEIAFEDRKDGSCGVSYVVQEPGDYEVSIKFNDEHIPDSPFVVP
  VASLSDDARRLTVTSLQETGLKVNQPASFAVQLNGARGVIDARVHTPSGAVEECYVSELDSDKHTIRFIPHENGV
  HSIDVKFNGAHIPGSPFKIRVGEQSQAGDPGLVSAYGPGLEGGTTGVSSEFIVNTLNAGSGALSVTIDGPSKVQL
  DCRECPEGHVVTYTPMAPGNYLIAIKYGGPQHIVGSPFKAKVTGPRLSGGHSLHETSTVLVETVTKSSSSRGSSY
  SSIPKFSSDASKVVTRGPGLSQAFVGQKNSFTVDCSKAGTNMMMVGVHGPKTPCEEVYVKHMGNRVYNVTYTVKE
  KGDYILIVKWGDESVPGSPFKVKVP

• Structural information:
  • Protein Domains: (36..14-)
    1 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (159..26-)
    2 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044"-)
  • Interpro: IPR001589  IPR001715  IPR036872  IPR017868  IPR001298   IPR013783  IPR014756  
  • Prosite: PS00019 PS00020 PS50021 PS50194
  • CDD: cd00014
  • PDB: 1V05 2D7M 2D7N 2D7O 2D7P 2D7Q 2K9U 2NQC 3V8O 4MGX
  • PDBsum: 1V05 2D7M 2D7N 2D7O 2D7P 2D7Q 2K9U 2NQC 3V8O 4MGX
  • DIP: 33398
  • STRING: ENSP00000327145
• Other Databases: GeneCards:  FLNC  Malacards:  FLNC

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IDA	cellular component
GO:0003779	actin binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0008092	cytoskeletal protein binding	IPI	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0034329	cell junction assembly	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016528	sarcoplasm	IEA	cellular component
GO:0048747	muscle fiber development	IEA	biological process
GO:0030506	ankyrin binding	IEA	molecular function
GO:0042383	sarcolemma	IEA	cellular component
GO:0030506	ankyrin binding	IPI	molecular function
GO:0042383	sarcolemma	IDA	cellular component
GO:0043034	costamere	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008092	cytoskeletal protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005925	focal adhesion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04010	MAPK signaling pathway
hsa05132	Salmonella infection
hsa04510	Focal adhesion
hsa05205	Proteoglycans in cancer

Diseases

Associated diseases	References
Myofibrillar myopathies	KEGG:H00595
Distal myopathy	KEGG:H00594
Myofibrillar myopathies	KEGG:H00595
Distal myopathy	KEGG:H00594
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq