OLFM2
Description
The OLFM2 (olfactomedin 2) is a protein-coding gene located on chromosome 19.
Olfactomedin 2, also known as noelin 2, is a protein that in humans is encoded by the OLFM2 gene.
OLFM2 plays a crucial role in smooth muscle differentiation by mediating the effects of transforming growth factor beta (TGF-beta). TGF-beta triggers the expression and nuclear translocation of OLFM2, where it binds to the transcription factor SRF. This interaction displaces the transcriptional repressor HEY2/HERP1 from SRF, enabling SRF to bind to its target genes. Additionally, OLFM2 participates in the organization of AMPAR complexes, which are essential for synaptic transmission. It also regulates vascular smooth-muscle cell (SMC) phenotypic switching, acting by promoting RUNX2 and inhibiting MYOCD binding to SRF. SMC phenotypic switching is a dynamic process where vascular SMCs transition between quiescent and proliferative states in response to pathological stimuli. This plasticity is essential for vascular development and remodeling.
OLFM2 is also known as NOE2, NOELIN2, NOELIN2_V1, OlfC.
Associated Diseases
- retinitis pigmentosa
- leukoencephalopathy with mild cerebellar ataxia and white matter edema
- intellectual developmental disorder and retinitis pigmentosa; IDDRP
