FLNB (filamin B)

2009-06-01  

Identity

HGNC
LOCATION
3p14.3
LOCUSID
ALIAS
ABP-278,ABP-280,AOI,FH1,FLN-B,FLN1L,LRS1,SCT,TABP,TAP
FUSION GENES

Other Information

Locus ID:

NCBI: 2317
MIM: 603381
HGNC: 3755
Ensembl: ENSG00000136068

Variants:

dbSNP: 2317
ClinVar: 2317
TCGA: ENSG00000136068
COSMIC: FLNB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136068ENST00000295956O75369
ENSG00000136068ENST00000358537O75369
ENSG00000136068ENST00000419752A0A0A0MT44
ENSG00000136068ENST00000429972O75369
ENSG00000136068ENST00000466455H7C5L4
ENSG00000136068ENST00000470231A0A0C4DGA1
ENSG00000136068ENST00000490882O75369
ENSG00000136068ENST00000493452E7EN95

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
MAPK signaling pathwayKEGGko04010
Focal adhesionKEGGko04510
MAPK signaling pathwayKEGGhsa04010
Focal adhesionKEGGhsa04510
Salmonella infectionKEGGko05132
Salmonella infectionKEGGhsa05132
Proteoglycans in cancerKEGGhsa05205
Proteoglycans in cancerKEGGko05205
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Interferon SignalingREACTOMER-HSA-913531
Antiviral mechanism by IFN-stimulated genesREACTOMER-HSA-1169410
ISG15 antiviral mechanismREACTOMER-HSA-1169408

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
149910552004Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.67
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
118070982002Different splice variants of filamin-B affect myogenesis, subcellular distribution, and determine binding to integrin [beta] subunits.41
187997292008ASB2 targets filamins A and B to proteasomal degradation.36
195054752009Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains.29
168013452007A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.27
188096792008Filamin B mediates ICAM-1-driven leukocyte transendothelial migration.25
159948682005Mutations in FLNB cause boomerang dysplasia.23
190545712009Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence.18
206348912010Maternal genes and facial clefts in offspring: a comprehensive search for genetic associations in two population-based cleft studies from Scandinavia.18

Citation

Dessen P

FLNB (filamin B)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50959/flnb