Entry - *123857 - CYSTATIN 4; CST4 - OMIM
 
* 123857

CYSTATIN 4; CST4


Alternative titles; symbols

CYSTATIN S


HGNC Approved Gene Symbol: CST4

Cytogenetic location: 20p11.21     Genomic coordinates (GRCh38): 20:23,685,640-23,689,038 (from NCBI)


TEXT

Cloning and Expression

See CST1 (123855) and CST5 (123858) for general information about cystatins, inhibitors of cysteine proteinases. Saitoh et al. (1991) cloned the CST4 gene by screening a genomic library with the CST1 gene. The CST4 gene encodes the 141-amino acid precursor form of cystatin S. (The cystatin D gene was originally called CST4 but later renamed CST5.)

By RNase protection assay of 23 human tissues, Dickinson et al. (2002) found that the level of CST4 was highest in submandibular gland, intermediate in parotid gland, lacrimal gland, and gallbladder, lower in kidney and seminal vesicles, and lowest in prostate.


Gene Structure

Saitoh et al. (1991) determined that the CST4 gene is composed of 3 exons spanning less than 4 kb.


Mapping

Dickinson et al. (1994) mapped the CST4 gene to 20p11.2 by fluorescence in situ hybridization. CST4 is clustered with other family II cystatins in a region that spans less than 905 kb.


REFERENCES

  1. Dickinson, D. P., Thiesse, M., Hicks, M. J. Expression of type 2 cystatin genes CST1-CST5 in adult human tissues and the developing submandibular gland. DNA Cell Biol. 21: 47-65, 2002. [PubMed: 11879580, related citations] [Full Text]

  2. Dickinson, D. P., Zhao, Y., Thiesse, M., Siciliano, M. J. Direct mapping of seven genes encoding human type 2 cystatins to a single site located at 20p11.2. Genomics 24: 172-175, 1994. [PubMed: 7896273, related citations] [Full Text]

  3. Saitoh, E., Isemura, S., Sanada, K., Ohnishi, K. The human cystatin gene family: cloning of three members and evolutionary relationship between cystatins and Bowman-Birk type proteinase inhibitors. Biomed. Biochim. Acta 50: 599-605, 1991. [PubMed: 1801729, related citations]


Patricia A. Hartz - updated : 8/30/2006
Rebekah S. Rasooly - updated : 4/10/1998
Creation Date:
Victor A. McKusick : 8/6/1991
alopez : 09/18/2012
wwang : 9/6/2006
wwang : 9/6/2006
terry : 8/30/2006
psherman : 4/10/1998
mark : 3/31/1997
carol : 1/26/1995
carol : 6/4/1993
carol : 3/9/1993
carol : 3/31/1992
supermim : 3/16/1992
carol : 2/21/1992

* 123857

CYSTATIN 4; CST4


Alternative titles; symbols

CYSTATIN S


HGNC Approved Gene Symbol: CST4

Cytogenetic location: 20p11.21     Genomic coordinates (GRCh38): 20:23,685,640-23,689,038 (from NCBI)


TEXT

Cloning and Expression

See CST1 (123855) and CST5 (123858) for general information about cystatins, inhibitors of cysteine proteinases. Saitoh et al. (1991) cloned the CST4 gene by screening a genomic library with the CST1 gene. The CST4 gene encodes the 141-amino acid precursor form of cystatin S. (The cystatin D gene was originally called CST4 but later renamed CST5.)

By RNase protection assay of 23 human tissues, Dickinson et al. (2002) found that the level of CST4 was highest in submandibular gland, intermediate in parotid gland, lacrimal gland, and gallbladder, lower in kidney and seminal vesicles, and lowest in prostate.


Gene Structure

Saitoh et al. (1991) determined that the CST4 gene is composed of 3 exons spanning less than 4 kb.


Mapping

Dickinson et al. (1994) mapped the CST4 gene to 20p11.2 by fluorescence in situ hybridization. CST4 is clustered with other family II cystatins in a region that spans less than 905 kb.


REFERENCES

  1. Dickinson, D. P., Thiesse, M., Hicks, M. J. Expression of type 2 cystatin genes CST1-CST5 in adult human tissues and the developing submandibular gland. DNA Cell Biol. 21: 47-65, 2002. [PubMed: 11879580] [Full Text: https://doi.org/10.1089/10445490252810311]

  2. Dickinson, D. P., Zhao, Y., Thiesse, M., Siciliano, M. J. Direct mapping of seven genes encoding human type 2 cystatins to a single site located at 20p11.2. Genomics 24: 172-175, 1994. [PubMed: 7896273] [Full Text: https://doi.org/10.1006/geno.1994.1595]

  3. Saitoh, E., Isemura, S., Sanada, K., Ohnishi, K. The human cystatin gene family: cloning of three members and evolutionary relationship between cystatins and Bowman-Birk type proteinase inhibitors. Biomed. Biochim. Acta 50: 599-605, 1991. [PubMed: 1801729]


Contributors:
Patricia A. Hartz - updated : 8/30/2006
Rebekah S. Rasooly - updated : 4/10/1998

Creation Date:
Victor A. McKusick : 8/6/1991

Edit History:
alopez : 09/18/2012
wwang : 9/6/2006
wwang : 9/6/2006
terry : 8/30/2006
psherman : 4/10/1998
mark : 3/31/1997
carol : 1/26/1995
carol : 6/4/1993
carol : 3/9/1993
carol : 3/31/1992
supermim : 3/16/1992
carol : 2/21/1992