• Gene id: 2317

Gene Summary

• Gene Symbol: FLNB   Gene   UCSC   Ensembl
• Aliases: ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP
• Gene name: filamin B
• Alternate names: filamin-B, ABP-280 homolog, Larsen syndrome 1 (autosomal dominant), actin binding protein 278, actin-binding-like protein, beta-filamin, filamin B, beta, filamin homolog 1, filamin-3, thyroid autoantigen,
• Gene location: 3p14.3 (83999140: 83865020)     Exons: 26     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cyto
• OMIM: 603381

Protein Summary

• Protein general information: O75369  
  • Name: Filamin B (FLN B) (ABP 278) (ABP 280 homolog) (Actin binding like protein) (Beta filamin) (Filamin homolog 1) (Fh1) (Filamin 3) (Thyroid autoantigen) (Truncated actin binding protein) (Truncated ABP)
  • Length: 2602  
  • Mass: 278164
  • Tissue specificity: Ubiquitous. Isoform 1 and isoform 2 are expressed in placenta, bone marrow, brain, umbilical vein endothelial cells (HUVEC), retina and skeletal muscle. Isoform 1 is predominantly expressed in prostate, uterus, liver, thyroid, stomach,
• Sequence:

  MPVTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVNKRIGNLQTDLSDGLRLIALLEVLSQKRMYRKYHQRPTFRQM
  QLENVSVALEFLDRESIKLVSIDSKAIVDGNLKLILGLVWTLILHYSISMPVWEDEGDDDAKKQTPKQRLLGWIQ
  NKIPYLPITNFNQNWQDGKALGALVDSCAPGLCPDWESWDPQKPVDNAREAMQQADDWLGVPQVITPEEIIHPDV
  DEHSVMTYLSQFPKAKLKPGAPLKPKLNPKKARAYGRGIEPTGNMVKQPAKFTVDTISAGQGDVMVFVEDPEGNK
  EEAQVTPDSDKNKTYSVEYLPKVTGLHKVTVLFAGQHISKSPFEVSVDKAQGDASKVTAKGPGLEAVGNIANKPT
  YFDIYTAGAGVGDIGVEVEDPQGKNTVELLVEDKGNQVYRCVYKPMQPGPHVVKIFFAGDTIPKSPFVVQVGEAC
  NPNACRASGRGLQPKGVRIRETTDFKVDTKAAGSGELGVTMKGPKGLEELVKQKDFLDGVYAFEYYPSTPGRYSI
  AITWGGHHIPKSPFEVQVGPEAGMQKVRAWGPGLHGGIVGRSADFVVESIGSEVGSLGFAIEGPSQAKIEYNDQN
  DGSCDVKYWPKEPGEYAVHIMCDDEDIKDSPYMAFIHPATGGYNPDLVRAYGPGLEKSGCIVNNLAEFTVDPKDA
  GKAPLKIFAQDGEGQRIDIQMKNRMDGTYACSYTPVKAIKHTIAVVWGGVNIPHSPYRVNIGQGSHPQKVKVFGP
  GVERSGLKANEPTHFTVDCTEAGEGDVSVGIKCDARVLSEDEEDVDFDIIHNANDTFTVKYVPPAAGRYTIKVLF
  ASQEIPASPFRVKVDPSHDASKVKAEGPGLSKAGVENGKPTHFTVYTKGAGKAPLNVQFNSPLPGDAVKDLDIID
  NYDYSHTVKYTPTQQGNMQVLVTYGGDPIPKSPFTVGVAAPLDLSKIKLNGLENRVEVGKDQEFTVDTRGAGGQG
  KLDVTILSPSRKVVPCLVTPVTGRENSTAKFIPREEGLYAVDVTYDGHPVPGSPYTVEASLPPDPSKVKAHGPGL
  EGGLVGKPAEFTIDTKGAGTGGLGLTVEGPCEAKIECSDNGDGTCSVSYLPTKPGEYFVNILFEEVHIPGSPFKA
  DIEMPFDPSKVVASGPGLEHGKVGEAGLLSVDCSEAGPGALGLEAVSDSGTKAEVSIQNNKDGTYAVTYVPLTAG
  MYTLTMKYGGELVPHFPARVKVEPAVDTSRIKVFGPGIEGKDVFREATTDFTVDSRPLTQVGGDHIKAHIANPSG
  ASTECFVTDNADGTYQVEYTPFEKGLHVVEVTYDDVPIPNSPFKVAVTEGCQPSRVQAQGPGLKEAFTNKPNVFT
  VVTRGAGIGGLGITVEGPSESKINCRDNKDGSCSAEYIPFAPGDYDVNITYGGAHIPGSPFRVPVKDVVDPSKVK
  IAGPGLGSGVRARVLQSFTVDSSKAGLAPLEVRVLGPRGLVEPVNVVDNGDGTHTVTYTPSQEGPYMVSVKYADE
  EIPRSPFKVKVLPTYDASKVTASGPGLSSYGVPASLPVDFAIDARDAGEGLLAVQITDQEGKPKRAIVHDNKDGT
  YAVTYIPDKTGRYMIGVTYGGDDIPLSPYRIRATQTGDASKCLATGPGIASTVKTGEEVGFVVDAKTAGKGKVTC
  TVLTPDGTEAEADVIENEDGTYDIFYTAAKPGTYVIYVRFGGVDIPNSPFTVMATDGEVTAVEEAPVNACPPGFR
  PWVTEEAYVPVSDMNGLGFKPFDLVIPFAVRKGEITGEVHMPSGKTATPEIVDNKDGTVTVRYAPTEVGLHEMHI
  KYMGSHIPESPLQFYVNYPNSGSVSAYGPGLVYGVANKTATFTIVTEDAGEGGLDLAIEGPSKAEISCIDNKDGT
  CTVTYLPTLPGDYSILVKYNDKHIPGSPFTAKITDDSRRCSQVKLGSAADFLLDISETDLSSLTASIKAPSGRDE
  PCLLKRLPNNHIGISFIPREVGEHLVSIKKNGNHVANSPVSIMVVQSEIGDARRAKVYGRGLSEGRTFEMSDFIV
  DTRDAGYGGISLAVEGPSKVDIQTEDLEDGTCKVSYFPTVPGVYIVSTKFADEHVPGSPFTVKISGEGRVKESIT
  RTSRAPSVATVGSICDLNLKIPEINSSDMSAHVTSPSGRVTEAEIVPMGKNSHCVRFVPQEMGVHTVSVKYRGQH
  VTGSPFQFTVGPLGEGGAHKVRAGGPGLERGEAGVPAEFSIWTREAGAGGLSIAVEGPSKAEITFDDHKNGSCGV
  SYIAQEPGNYEVSIKFNDEHIPESPYLVPVIAPSDDARRLTVMSLQESGLKVNQPASFAIRLNGAKGKIDAKVHS
  PSGAVEECHVSELEPDKYAVRFIPHENGVHTIDVKFNGSHVVGSPFKVRVGEPGQAGNPALVSAYGTGLEGGTTG
  IQSEFFINTTRAGPGTLSVTIEGPSKVKMDCQETPEGYKVMYTPMAPGNYLISVKYGGPNHIVGSPFKAKVTGQR
  LVSPGSANETSSILVESVTRSSTETCYSAIPKASSDASKVTSKGAGLSKAFVGQKSSFLVDCSKAGSNMLLIGVH
  GPTTPCEEVSMKHVGNQQYNVTYVVKERGDYVLAVKWGEEHIPGSPFHVTVP

• Structural information:
  • Protein Domains: (16..12-)
    1 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044-)
    (139..24-)
    2 (/note="Calponin-homology-(CH))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00044"-)
  • Interpro: IPR001589  IPR001715  IPR036872  IPR017868  IPR001298   IPR029874  IPR013783  IPR014756  
  • Prosite: PS00019 PS00020 PS50021 PS50194
  • CDD: cd00014
  • PDB: 2DI8 2DI9 2DIA 2DIB 2DIC 2DJ4 2DLG 2DMB 2DMC 2E9I 2E9J 2EE6 2EE9 2EEA 2EEB 2EEC 2EED 2WA5 2WA6 2WA7 3FER 4B7L 5DCP
  • PDBsum: 2DI8 2DI9 2DIA 2DIB 2DIC 2DJ4 2DLG 2DMB 2DMC 2E9I 2E9J 2EE6 2EE9 2EEA 2EEB 2EEC 2EED 2WA5 2WA6 2WA7 3FER 4B7L 5DCP
  • STRING: ENSP00000420213
• Other Databases: GeneCards:  FLNB  Malacards:  FLNB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003779	actin binding	IEA	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0003779	actin binding	IEA	molecular function
GO:0030154	cell differentiation	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007165	signal transduction	TAS	biological process
GO:0015629	actin cytoskeleton	TAS	cellular component
GO:0030036	actin cytoskeleton organization	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0042802	identical 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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0045335	phagocytic vesicle	IEA	cellular component
GO:0007519	skeletal muscle tissue development	IEA	biological process
GO:0005925	focal adhesion	IEA	cellular component
GO:0005903	brush border	IEA	cellular component
GO:0003382	epithelial cell morphogenesis	IEA	biological process
GO:0003334	keratinocyte development	IEA	biological process
GO:0001725	stress fiber	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0071346	cellular response to interferon-gamma	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045296	cadherin binding	HDA	molecular function
GO:0005938	cell cortex	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0030018	Z disc	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005925	focal adhesion	HDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003779	actin binding	NAS	molecular function
GO:0016021	integral component of membrane	NAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005737	cytoplasm	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
Spondylocarpotarsal synostosis syndrome	KEGG:H00499
Larsen syndrome	KEGG:H02048
Atelosteogenesis type I and III	KEGG:H02064
Boomerang dysplasia	KEGG:H02067
Spondylocarpotarsal synostosis syndrome	KEGG:H00499
Larsen syndrome	KEGG:H02048
Atelosteogenesis type I and III	KEGG:H02064
Boomerang dysplasia	KEGG:H02067
Bone disease	PMID:15994868
Bone disease	PMID:14991055
Clubfoot	PMID:27395407
Osteochondrodysplasia	PMID:14991055
cleft palate	PMID:20634891
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq