FLNB

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 cytoskeleton. Mutations in this gene have been found in several conditions: atelosteogenesis type 1 and type 3; boomerang dysplasia; autosomal dominant Larsen syndrome; and spondylocarpotarsal synostosis syndrome. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Nov 2009]

Description

Filamin B

Tissue specificity

Low tissue specificity

Subcell location

Golgi apparatus, Plasma membrane, Actin filaments, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)
Transporters

Chromosome

3 (58008400 - 58172251)

Ensembl ID

ENSG00000136068  (ver. 103.38)

Orthologs

Mouse Flnb: ENSMUSG00000025278

UniProt

O75369

neXtProt

NX_O75369

Human splice variants
Mouse splice variants

Protein structure