TRIOBP

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]

Description

TRIO and F-actin binding protein

Tissue specificity

Low tissue specificity

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Plasma proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

22 (37697048 - 37776556)

Ensembl ID

ENSG00000100106  (ver. 103.38)

Orthologs

Mouse Triobp: ENSMUSG00000033088

UniProt

Q9H2D6

neXtProt

NX_Q9H2D6

Human splice variants
Mouse splice variants

Protein structure