Disease relevance of CST2

• Two variants of cystatin SA encoded by two alleles at the CST2 locus of the type 2 human cystatin gene family were expressed in Escherichia coli [1].

High impact information on CST2

• Sequence variations of the CST2 gene related to the polymorphism of salivary cystatin SA [2].
• The CST2 locus has two polymorphic alleles, CST2*1 and CST2*2, which produce cystatin proteins SAI and SA2, respectively (Shintani et al., 1994) [2].
• The sequence of three exons obtained from DNA of the CST2 1 phenotype was found to be identical to the published sequence of the CST2 gene (Saitoh et al., 1987), whereas two-point mutations were found in the sequence obtained from DNA of the CST2 2 phenotype [2].
• The cluster was assigned to chromosome 20 by screening a somatic cell hybrid panel with an STS for CST2 [3].
• Two proteins, SA1 and SA2, are given by two alleles of CST2, viz., CST2*1 and CST*2 [4].

Biological context of CST2

• Partial nucleotide sequence determination of a second gene revealed that it codes for the precursor form of the acidic salivary protein, cystatin SA [5].
• The variations were investigated by direct sequencing of amplified DNA from individuals with different CST2 phenotypes [2].
• Sac I Restriction Fragment Length Polymorphism (RFLP) related to the human CST2 gene [6].
• A new genetic polymorphism of cystatin SA has been identified in human submandibular-sublingual saliva by means of basic gel electrophoresis and immunoblotting with anti-cystatin S [4].
• In conclusion, we have succeeded in producing two antibodies that discriminate the structural differences between salivary cystatins S and SN, which share more than 90% identity in amino acid sequence with cystatin SA [7].

Anatomical context of CST2

• In the present study, we investigated the effects of cystatin SA on cytokine production by helper T cells [8].
• Cystatin SA, a cysteine proteinase inhibitor, induces interferon-gamma expression in CD4-positive T cells [8].

Associations of CST2 with chemical compounds

• A cysteine proteinase inhibitor (designated as cystatin SA) was isolated from human whole saliva by procedures including chromatography on DE 32 and DEAE-Sepharose CL-6B [9].

Enzymatic interactions of CST2

• Analysis of one fraction indicated that this was a mixture of full-sized cystatin SA and non-phosphorylated cystatin S [10].

Other interactions of CST2

• This gene, which we name CST2, has the same gene organization as CST1 [5].
• Eighteen amino acids determined among 20 N-terminal residues of cystatin SA2 are identical with the sequence encoded by CST2 [4].
• Characterization and amino acid sequence of a new acidic cysteine proteinase inhibitor (cystatin SA) structurally closely related to cystatin S, from human whole saliva [9].

References