FLNB, Official Symbol FLNBprovided by HGNC Official Full Name filamin Bprovided by HGNC Primary source HGNC:HGNC:3755 See related Ensembl:ENSG00000136068 MIM:603381; AllianceGenome:HGNC:3755 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AOI; FH1; SCT; TAP; LRS1; TABP; FLN-B; FLN1L; ABP-278; ABP-280 Summary 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] Expression Ubiquitous expression in colon (RPKM 41.4), prostate (RPKM 35.6) and 25 other tissues See more Orthologs mouse all