Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CST2 Gene

Aliases for CST2 Gene

  • Cystatin SA 2 3 5
  • Cystatin 2 2 3
  • Salivary Cysteine (Thiol) Protease Inhibitor 3
  • Cysteine-Proteinase Inhibitor 3
  • Cystatin S5 3
  • Cystatin-SA 3
  • Cystatin-S5 4
  • Cystatin-2 4

External Ids for CST2 Gene

Previous GeneCards Identifiers for CST2 Gene

  • GC20M023792
  • GC20M023799
  • GC20M023752

Summaries for CST2 Gene

Entrez Gene Summary for CST2 Gene

  • The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted thiol protease inhibitor found at high levels in saliva, tears and seminal plasma. [provided by RefSeq, Jul 2008]

GeneCards Summary for CST2 Gene

CST2 (Cystatin SA) is a Protein Coding gene. Among its related pathways are Salivary secretion. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase inhibitor activity. An important paralog of this gene is CST4.

UniProtKB/Swiss-Prot for CST2 Gene

  • Thiol protease inhibitor.

Gene Wiki entry for CST2 Gene

Additional gene information for CST2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CST2 Gene

Genomics for CST2 Gene

GeneHancer (GH) Regulatory Elements for CST2 Gene

Promoters and enhancers for CST2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J023826 Promoter 0.8 EPDnew 658.7 0.0 -17 0.1 SP3 KLF17 ZNF444 WT1 CST2 CST5
GH20J023866 Enhancer 0.4 ENCODE 4.6 -40.5 -40547 0.6 ATF7 MAFK ATF2 CST2 CST5
GH20J023868 Enhancer 0.3 ENCODE 0.3 -42.9 -42918 3.3 NANOG CST5 CST2
GH20J023857 Enhancer 0.2 ENCODE 0.3 -31.4 -31388 0.9 CST5 CST2
GH20J023873 Enhancer 0.2 ENCODE 0.2 -46.8 -46788 0.2 CST5 CST2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CST2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CST2 gene promoter:
  • Zic1
  • Nkx5-1

Genomic Locations for CST2 Gene

Genomic Locations for CST2 Gene
2,965 bases
Minus strand
2,965 bases
Minus strand

Genomic View for CST2 Gene

Genes around CST2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CST2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CST2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CST2 Gene

Proteins for CST2 Gene

  • Protein details for CST2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q9UCQ7

    Protein attributes for CST2 Gene

    141 amino acids
    Molecular mass:
    16445 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CST2 Gene

Post-translational modifications for CST2 Gene

No Post-translational modifications

Other Protein References for CST2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CST2 Gene

Domains & Families for CST2 Gene

Gene Families for CST2 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CST2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the cystatin family.
  • Belongs to the cystatin family.
genes like me logo Genes that share domains with CST2: view

Function for CST2 Gene

Molecular function for CST2 Gene

UniProtKB/Swiss-Prot Function:
Thiol protease inhibitor.
GENATLAS Biochemistry:
cystatin SA,cysteine proteinase inhibitor,found at high levels in saliva,tears,seminal plasma,type 2 family,including two variants cystatin SA1 and cystatin SA2

Phenotypes From GWAS Catalog for CST2 Gene

Gene Ontology (GO) - Molecular Function for CST2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IBA --
GO:0004869 cysteine-type endopeptidase inhibitor activity TAS,IBA --
GO:0005515 protein binding IPI 25416956
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with CST2: view
genes like me logo Genes that share phenotypes with CST2: view

Animal Model Products

miRNA for CST2 Gene

miRTarBase miRNAs that target CST2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CST2 Gene

Localization for CST2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CST2 Gene


Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CST2 gene
Compartment Confidence
extracellular 5
lysosome 2
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for CST2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IDA 24248522
genes like me logo Genes that share ontologies with CST2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CST2 Gene

Pathways & Interactions for CST2 Gene

SuperPathway Contained pathways
1 Salivary secretion
genes like me logo Genes that share pathways with CST2: view

Pathways by source for CST2 Gene

1 KEGG pathway for CST2 Gene

Gene Ontology (GO) - Biological Process for CST2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste IDA 24248522
GO:0010466 negative regulation of peptidase activity IEA --
GO:2000117 negative regulation of cysteine-type endopeptidase activity IBA --
genes like me logo Genes that share ontologies with CST2: view

No data available for SIGNOR curated interactions for CST2 Gene

Drugs & Compounds for CST2 Gene

(1) Drugs for CST2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for CST2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CST2: view

Transcripts for CST2 Gene

mRNA/cDNA for CST2 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(25) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CST2 Gene

Cystatin SA:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CST2 Gene

No ASD Table

Relevant External Links for CST2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CST2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CST2 Gene

mRNA differential expression in normal tissues according to GTEx for CST2 Gene

This gene is overexpressed in Adrenal Gland (x16.5), Cervix - Ectocervix (x7.2), Cervix - Endocervix (x5.0), and Prostate (x4.7).

Protein differential expression in normal tissues from HIPED for CST2 Gene

This gene is overexpressed in Skin (41.7), Saliva (13.6), and Salivary gland (13.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CST2 Gene

Protein tissue co-expression partners for CST2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CST2 Gene:


SOURCE GeneReport for Unigene cluster for CST2 Gene:


mRNA Expression by UniProt/SwissProt for CST2 Gene:

Tissue specificity: Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in submandibular gland and parotid gland.

Evidence on tissue expression from TISSUES for CST2 Gene

  • Saliva(4.5)
  • Thyroid gland(4)
  • Nervous system(3.2)
  • Kidney(2.4)
genes like me logo Genes that share expression patterns with CST2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for CST2 Gene

Orthologs for CST2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CST2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CST2 34
  • 93 (a)
(Canis familiaris)
Mammalia -- 34
  • 53 (a)
(Bos Taurus)
Mammalia CST3 34
  • 49 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 39 (a)
(Mus musculus)
Mammalia Cst10 34
  • 37 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 32 (a)
(Gallus gallus)
Aves gga-mir-3526 34
  • 37 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 38 (a)
(Danio rerio)
Actinopterygii cst3 34
  • 30 (a)
Species where no ortholog for CST2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CST2 Gene

Gene Tree for CST2 (if available)
Gene Tree for CST2 (if available)
Evolutionary constrained regions (ECRs) for CST2: view image

Paralogs for CST2 Gene

Paralogs for CST2 Gene

(10) SIMAP similar genes for CST2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CST2: view

Variants for CST2 Gene

Sequence variations from dbSNP and Humsavar for CST2 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000290244 -- 23,825,265(-) T/G coding_sequence_variant, missense_variant
rs1001293150 -- 23,824,432(-) C/T intron_variant
rs1001427500 -- 23,828,022(-) C/T upstream_transcript_variant
rs1001899751 -- 23,828,245(-) A/C upstream_transcript_variant
rs1002445016 -- 23,827,144(-) T/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CST2 Gene

Variant ID Type Subtype PubMed ID
dgv654e201 CNV deletion 23290073
dgv783e199 CNV deletion 23128226
esv2722309 CNV deletion 23290073
esv2722310 CNV deletion 23290073
esv3645532 CNV loss 21293372
esv3645537 CNV loss 21293372
esv3645538 CNV gain 21293372
esv3893322 CNV gain 25118596
esv3893323 CNV loss 25118596
nsv3336 CNV deletion 18451855
nsv436326 CNV deletion 17901297
nsv458953 CNV loss 19166990
nsv585727 CNV loss 21841781
nsv585729 CNV loss 21841781
nsv833944 CNV gain 17160897
nsv965865 CNV duplication 23825009

Variation tolerance for CST2 Gene

Residual Variation Intolerance Score: 96.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.00; 60.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CST2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CST2 Gene

Disorders for CST2 Gene

Additional Disease Information for CST2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for CST2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CST2 Gene

Publications for CST2 Gene

  1. Expression of type 2 cystatin genes CST1-CST5 in adult human tissues and the developing submandibular gland. (PMID: 11879580) Dickinson DP … Hicks MJ (DNA and cell biology 2002) 3 4 22 58
  2. Sac I Restriction Fragment Length Polymorphism (RFLP) related to the human CST2 gene. (PMID: 12013824) Minaguchi K … Sanada K (The Bulletin of Tokyo Dental College 2002) 3 22 44 58
  3. Identification of full-sized forms of salivary (S-type) cystatins (cystatin SN, cystatin SA, cystatin S, and two phosphorylated forms of cystatin S) in human whole saliva and determination of phosphorylation sites of cystatin S. (PMID: 1778989) Isemura S … Minakata K (Journal of biochemistry 1991) 3 4 22 58
  4. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M … Yamada Y (American journal of hypertension 2010) 3 44 58
  5. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T … Yamada Y (International journal of molecular medicine 2010) 3 44 58

Products for CST2 Gene

Sources for CST2 Gene

Loading form....