HGNC Approved Gene Symbol: SPRR2ACytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:153,056,119-153,057,511 (from NCBI)▼ DescriptionProteins of the...
HGNC Approved Gene Symbol: SPRR2A
Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:153,056,119-153,057,511 (from NCBI)
Proteins of the SPRR family, like SPRR2A, are components of the cornified cell envelope, which provides the protective barrier function of stratified squamous epithelial cells (Cabral et al., 2001).
▼ Cloning and Expression
Gibbs et al. (1993) concluded that there are 7 genes for the SPRR2 subfamily of small proline-rich proteins, including SPRR2A.
By sequencing the SPRR gene cluster on chromosome 1, Cabral et al. (2001) identified SPRR2A. The deduced SPRR2A protein has a short N-terminal head domain, followed by 3 repeats of the SPRR2 consensus sequence PKCPEPCPP and a long C-terminal tail domain. RT-PCR detected high SPRR2A expression in esophagus and cervix, as well as in cultured human keratinocytes following calcium-induced differentiation. Lower expression was detected in skin, but no expression was detected in uterus and ovary.
By immunohistochemical analysis, Tong et al. (2006) found expression of SPRR1 (see 182265) and SPRR2 in central and peripheral human cornea and limbal epithelium.
▼ Gene Function
Using quantitative real-time PCR, Hong et al. (2004) found that expression of Sprr2 family members was high in mouse uterus during proestrus and estrus, but declined rapidly during metestrus. Sprr2 expression rose early during pregnancy and fell thereafter. Treatment with 17-beta-estradiol increased expression of most Sprr2 family members in mouse uterus.
Using DNA microarray analysis, Zimmermann et al. (2005) identified Sprr2a and Sprr2b (182268) as allergen-induced genes in a mouse model of experimental asthma.
▼ Gene Structure
Cabral et al. (2001) determined that SPRR2A, like all other SPRR2 genes, has 2 exons. Exon 1 is noncoding.
By analysis of human-rodent hybrid cell lines and FISH, Gibbs et al. (1993) determined that all SPRR genes, including SPRR2A, are closely linked within a 300-kb DNA segment on chromosome 1q21-q22.
Using long-distance PCR, Cabral et al. (2001) mapped the SPRR2A gene to an SPRR2 gene cluster spanning 100 kb of chromosome 1q21.