Gene: FLNB

Alternate names for this Gene: ABP-278|ABP-280|AOI|FH1|FLN-B|FLN1L|LRS1|SCT|TABP|TAP

Gene 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.

Gene is located in Chromosome: 3

Location in Chromosome : 3p14.3

Description of this Gene: filamin B

Type of Gene: protein-coding

rs121908895 in FLNB gene and Atelosteogenesis Type 3 PMID 14991055 2004 Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

rs121908894 in FLNB gene and Atelosteogenesis, type 1 PMID 14991055 2004 Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

rs142568031 in FLNB gene and Body Height PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

rs121908896 in FLNB gene and Boomerang dysplasia PMID 15994868 2005 Mutations in FLNB cause boomerang dysplasia.

rs13077017 in FLNB gene and Eating Disorders PMID 23568457 2013 Genetic variants associated with disordered eating.

rs80356503 in FLNB gene and Larsen syndrome PMID 16801345 2007 A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.

PMID 14991055 2004 Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis.

rs13077017 in FLNB gene and Other eating disorders PMID 23568457 2013 Genetic variants associated with disordered eating.

rs732526 in FLNB gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs80356517 in FLNB gene and SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME PMID 26380986 2015 Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.

rs858215 in FLNB gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.