Alternative titles; symbols
HGNC Approved Gene Symbol: SCML2
Cytogenetic location: Xp22.13 Genomic coordinates (GRCh38) : X:18,239,313-18,355,118 (from NCBI)
While constructing a transcript map of human chromosomal segment Xp22, Montini et al. (1999) identified cDNAs encoding a homolog of the Drosophila 'Sex comb on midleg' (Scm) gene, a member of the Polycomb group (PcG) of genes that encode transcriptional repressors required for proper expression of homeotic genes. Montini et al. (1999) designated the gene SCML2 (Scm-like 2). The predicted 700-amino acid SCML2 protein contains 2 N-terminal mbt domains, first described in the Drosophila lethal(3)malignant brain tumor gene product, and a C-terminal SPM domain. The SPM domain is found in many PcG members and is thought to play a role in protein-protein interactions and in the assembly or stabilization of multiprotein complexes of PcG proteins. Northern blot analysis revealed that the 4.4-kb SCML2 mRNA is expressed in several human tissues, with the highest levels in placenta, thymus, and testis.
By sequence analysis, Montini et al. (1999) found that the SCML2 gene is located 450 to 500 kb from another Scm homolog, SCML1 (300227), on Xp22, and that the 2 genes are transcribed in opposite orientations. SCML1 and SCML2 share 81% nucleotide identity.
Montini et al. (1999) stated that the SCML cluster represents an additional example of gene clusters in the Xp22 region, which also contains the MIC2 (313470) gene family and the sulfatase gene cluster (see ARSF, 300003). Using fluorescence in situ hybridization, Montini et al. (1999) demonstrated that the 2 SCML genes are localized to the same region in Old World and New World monkeys as well as in prosimians, suggesting that the duplication event leading to the formation of the SCML cluster took place before primate divergence.
Montini, E., Buchner, G., Spalluto, C., Andolfi, G., Caruso, A., den Dunnen, J. T., Trump, D., Rocchi, M., Ballabio, A., Franco, B. Identification of SCML2, a second human gene homologous to the Drosophila sex comb on midleg (Scm): a new gene cluster on Xp22. Genomics 58: 65-72, 1999. [PubMed: 10331946] [Full Text: https://doi.org/10.1006/geno.1999.5755]