Alternative titles; symbols
HGNC Approved Gene Symbol: PLXNB3
Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:153,764,249-153,779,341 (from NCBI)
Tamagnone et al. (1999) identified the cDNA sequence of a novel member of the plexin gene family, which they called plexin B3.
Artigiani et al. (2004) showed that mammalian Plxnb3 is a high-affinity semaphorin-5A (SEMA5A; 609297) receptor. Plxnb3 was activated by Sema5a, and the Sema5a-Plxnb3 complex triggered intracellular signaling through Met (164860), the receptor for hepatocyte growth factor (142409).
Tamagnone et al. (1999) found the PLXNB3 coding sequence in the genomic sequence of the ABCD1 gene (300371) on Xq28.
In a 3-year-old Japanese boy with X-linked ALD (300100), Matsumoto et al. (2005) identified a partial deletion (exons 3 to 10) of the ABCD1 gene with fusion to the neighboring PLXNB3 gene. Sequencing showed that the breakpoints were at nucleotide +1374 in intron 2 of the ABCD1 gene and nucleotide +915 in intron 2 of the PLXNB3 gene. The mother was confirmed as a carrier of the deletion.
Artigiani, S., Conrotto, P., Fazzari, P., Gilestro, G. F., Barberis, D., Giordano, S., Comoglio, P. M., Tamagnone, L. Plexin-B3 is a functional receptor for semaphorin 5A. EMBO Rep. 5: 710-714, 2004. [PubMed: 15218527] [Full Text: https://doi.org/10.1038/sj.embor.7400189]
Matsumoto, T., Miyake, N., Watanabe, Y., Yamanaka, G., Oana, S., Ogiwara, M., Hoshika, A., Sasaki, N., Miyahara, H., Niikawa, N. X-linked adrenoleukodystrophy with partial deletion of ALD due to fusion with the neighbor gene, PLXNB3. Am. J. Med. Genet. 138A: 300-302, 2005. [PubMed: 16152637] [Full Text: https://doi.org/10.1002/ajmg.a.30951]
Tamagnone, L., Artigiani, S., Chen, H., He, Z., Ming, G., Song, H., Chedotal, A., Winberg, M. L., Goodman, C. S., Poo, M., Tessier-Lavigne, M., Comoglio, P. M. Plexins are a large family of receptors for transmembrane, secreted, and GPI-anchored semaphorins in vertebrates. Cell 99: 71-80, 1999. Note: Erratum: Cell 104: following 320, 2001. [PubMed: 10520995] [Full Text: https://doi.org/10.1016/s0092-8674(00)80063-x]