HGNC Approved Gene Symbol: SPRR2C
Cytogenetic location: 1q21-q22 Genomic coordinates (GRCh38): 1:143,200,001-156,600,000
Proteins of the SPRR family are components of the cornified cell envelope, which provides the protective barrier function of stratified squamous epithelial cells. However, SPRR2C contains a premature stop codon and appears to be a pseudogene (Gibbs et al., 1993; Cabral et al., 2001).
Gibbs et al. (1993) reported that SPRR2C appears to be a pseudogene due to a C-to-T transition in the sixth codon, resulting in a TAG stop codon.
By sequencing the SPRR gene cluster on chromosome 1, Cabral et al. (2001) identified SPRR2C, which contains a stop codon at codon 6. RT-PCR detected high SPRR2C expression in cervix, with lower expression in esophagus and cultured differentiated human keratinocytes. No SPRR2C expression was detected in uterus, ovary, skin, or undifferentiated keratinocytes.
Using RT-PCR, Cabral et al. (2001) found that ultraviolet C irradiation induced expression of SPRR2C in cultured human keratinocytes.
Cabral et al. (2001) determined that SPRR2C, like all other SPRR2 genes, has 2 exons. Exon 1 is noncoding.
Using long-distance PCR, Cabral et al. (2001) mapped the SPRR2C gene to an SPRR2 gene cluster spanning 100 kb of chromosome 1q21.
Cabral, A., Voskamp, P., Cleton-Jansen, A.-M., South, A., Nizetic, D., Backendorf, C. Structural organization and regulation of the small proline-rich family of cornified envelope precursors suggest a role in adaptive barrier function. J. Biol. Chem. 276: 19231-19237, 2001. [PubMed: 11279051] [Full Text: https://doi.org/10.1074/jbc.M100336200]
Gibbs, S., Fijneman, R., Wiegant, J., Geurts van Kessel, A., van de Putte, P., Backendorf, C. Molecular characterization and evolution of the SPRR family of keratinocyte differentiation markers encoding small proline-rich proteins. Genomics 16: 630-637, 1993. [PubMed: 8325635] [Full Text: https://doi.org/10.1006/geno.1993.1240]