SEMA4A
Description
The SEMA4A (semaphorin 4A) is a protein-coding gene located on chromosome 1.
SEMA4A is a protein encoded by the SEMA4A gene in humans. It belongs to the semaphorin family, which includes soluble and transmembrane proteins involved in guiding axonal migration during neuronal development and in immune responses. A germline variant in SEMA4A (V78M) has been linked to an increased risk of colorectal cancer type X. Recent studies have identified SEMA4A as a potential therapeutic target for Multiple myeloma.
SEMA4A acts as a cell surface receptor for several proteins, including PLXNB1, PLXNB2, PLXNB3, and PLXND1, playing a crucial role in cell-cell signaling. It regulates the development of both glutamatergic and GABAergic synapses, promoting the formation of inhibitory synapses in a PLXNB1-dependent manner and excitatory synapses in a PLXNB2-dependent manner. SEMA4A is involved in the priming of antigen-specific T-cells, promoting the differentiation of Th1 T-helper cells, thus contributing to adaptive immunity. It also promotes the phosphorylation of TIMD2, inhibits angiogenesis, and influences axon growth. SEMA4A promotes axon growth cone collapse and inhibits axonal extension by providing local signals that define areas inaccessible for growing axons.
SEMA4A is also known as CORD10, RP35, SEMAB, SEMB.
Associated Diseases
- Cone-Rod dystrophy 10
- Familial colorectal cancer Type X
- Cone rod dystrophy
- Retinitis pigmentosa
- Retinitis pigmentosa 35
