Filamin B

Alternative Names

  • FLNB
  • Filamin, Beta
  • Actin-Binding Protein 276/278
  • ABP276/278
  • Truncated Actin-Binding Protein
  • TABP
  • Actin-Binding Protein, Truncated
  • Filamin Homolog 1
  • FH1
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OMIM Number

603381

NCBI Gene ID

2317

Uniprot ID

O75369

Length

163,830 bases

No. of Exons

47

No. of isoforms

9

Protein Name

Filamin-B

Molecular Mass

278164 Da

Amino Acid Count

2602

Genomic Location

chr3:58,008,421-58,172,250

Gene Map Locus
3p14.3

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001164317.2:c.488A>CSaudi ArabiaNC_000003.12:g.58077241A>CUncertain SignificanceLarsen SyndromeNG_012801.1:g.73842A>T; NM_001164317.2:c.488A>C; NP_001157789.1:p.Gln163Pro
NM_001457.4:c.4545T>AUnited Arab EmiratesNC_000003.12:g.58134646T>ALikely PathogenicSpondylocarpotarsal Synostosis SyndromeNG_012801.1:g.131247T>A; NM_001457.4:c.4545T>A; NP_001448.2:p.Tyr1515Ter1055800774
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