FLNB filamin B
Gene ID: 2317, updated on 7-Apr-2024Gene type: protein coding
Also known as: AOI; FH1; SCT; TAP; LRS1; TABP; FLN-B; FLN1L; ABP-278; ABP-280
- See all available tests in GTR for this gene
- Go to complete Gene record for FLNB
- Go to Variation Viewer for FLNB variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Atelosteogenesis type I | See labs |
| Atelosteogenesis type III | See labs |
| Boomerang dysplasia | See labs |
| Genetic variants associated with disordered eating. GeneReviews: Not available | |
| Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. GeneReviews: Not available | |
| Larsen syndrome | See labs |
| Spondylocarpotarsal synostosis syndrome | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2013-07-25) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2013-07-25) ClinGen Genome Curation Page |
Genomic context
- Location:
- 3p14.3
- Sequence:
- Chromosome: 3; NC_000003.12 (58008422..58172251)
- Total number of exons:
- 47
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FLNB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FLNB database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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