TRIO- And F-Actin-Binding Protein

Alternative Names

  • TRIOBP
  • TRIO And Filamentous-Actin-Binding Protein
  • TRIO-Associated Repeat On Actin
  • TARA
  • KIAA1662
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OMIM Number

609761

NCBI Gene ID

11078

Uniprot ID

Q9H2D6

Length

79,509 bases

No. of Exons

26

No. of isoforms

7

Protein Name

TRIO and F-actin-binding protein

Molecular Mass

261376 Da

Amino Acid Count

2365

Genomic Location

chr22:37,697,048-37,776,556

Gene Map Locus
22q13.1

Description

This gene encodes a protein with an N-terminal pleckstrin homology domain and a C-terminal coiled-coil region. The protein interacts with trio, which is involved with neural tissue development and controlling actin cytoskeleton organization, cell motility and cell growth. The protein also associates with F-actin and stabilizes F-actin structures. Mutations in this gene have been associated with a form of autosomal recessive nonsyndromic deafness. Multiple alternatively spliced transcript variants that would encode different isoforms have been found for this gene, however some transcripts may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Nov 2008]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001039141.3:c.2758C>TUnited Arab EmiratesNC_000022.11:g.37725314C>TNG_012857.1:g.33327C>T; NM_001039141.3:c.2758C>T; NP_001034230.1:p.Arg920Ter1328461856
NM_001039141.3:c.3232delUnited Arab EmiratesNC_000022.11:g.37725788delLikely PathogenicDeafness, Autosomal Recessive 28NG_012857.1:g.33801del; NM_001039141.3:c.3232del; NP_001034230.1:p.Arg1078AlafsTer135
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