Growth arrest-specific protein 2
Developmental stage
Specifically expressed at growth arrest.
Function
Required to maintain microtubule bundles in inner ear supporting cells, affording them with mechanical stiffness to transmit sound energy through the cochlea.
Involvement in disease
Deafness, autosomal recessive, 125
DFNB125
A form of non-syndromic deafness characterized by congenital sensorineural hearing loss. Sensorineural hearing loss results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Cleaved, during apoptosis, on a specific aspartic residue by caspases.
Phosphorylated on serine residues during the G0-G1 transition phase.
Sequence Similarities
Belongs to the GAS2 family.
Tissue Specificity
Ubiquitously expressed with highest levels in liver, lung, and kidney. Not found in spleen.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Stress fiber
- Membrane
- Peripheral membrane protein
- Component of the microfilament system. Colocalizes with actin fibers at the cell border and along the stress fibers in growth-arrested fibroblasts. Mainly membrane-associated. When hyperphosphorylated, accumulates at membrane ruffles (By similarity). Colocalizes with detyrosinated alpha-tubulin along the length of microtubule bundles in inner and outer pillar cells (By similarity).
Alternative names
Growth arrest-specific protein 2, GAS-2, GAS2