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Aliases for CST5 Gene

Aliases for CST5 Gene

  • Cystatin D 2 3 5
  • Cysteine-Proteinase Inhibitor 3
  • Cystatin 5 3
  • Cystatin-D 3
  • Cystatin-5 4

External Ids for CST5 Gene

Previous GeneCards Identifiers for CST5 Gene

  • GC20M023844
  • GC20M023804

Summaries for CST5 Gene

Entrez Gene Summary for CST5 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. 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 protein found in saliva and tears. The encoded protein may play a protective role against proteinases present in the oral cavity. [provided by RefSeq, Jul 2008]

GeneCards Summary for CST5 Gene

CST5 (Cystatin D) is a Protein Coding gene. Diseases associated with CST5 include Central Corneal Ulcer. Among its related pathways are Endochondral Ossification and Salivary secretion. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase inhibitor activity. An important paralog of this gene is CST1.

UniProtKB/Swiss-Prot for CST5 Gene

  • Cysteine proteinase inhibitor that possibly plays a protective role against proteinases present in the oral cavity. The order of preference for inhibition is cathepsin S > cathepsin H > cathepsin L > cathepsin B.

Gene Wiki entry for CST5 Gene

Additional gene information for CST5 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CST5 Gene

Genomics for CST5 Gene

GeneHancer (GH) Regulatory Elements for CST5 Gene

Promoters and enhancers for CST5 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
GH20I023880 Enhancer 0.8 ENCODE 550.8 -0.4 -399 0.1 ELF3 FOXA2 MLX THRB RARA ETS1 SLC30A9 THAP11 MIXL1 NFIL3 CST5 CSTP1
GH20I023879 Promoter 0.6 EPDnew 550.8 0.0 -18 0.1 WT1 CST5 CSTP1
GH20I023868 Enhancer 0.2 ENCODE 8.8 +10.1 10101 3.3 CST5 CST2
GH20I023857 Enhancer 0.2 ENCODE 8.8 +21.6 21631 0.9 CST5 CST2
GH20I023873 Enhancer 0.2 ENCODE 6.2 +6.2 6231 0.2 CST5 CST2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CST5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CST5 gene promoter:

Genomic Locations for CST5 Gene

Genomic Locations for CST5 Gene
3,816 bases
Minus strand

Genomic View for CST5 Gene

Genes around CST5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CST5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CST5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CST5 Gene

Proteins for CST5 Gene

  • Protein details for CST5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q5JRF5
    • Q9UCA0

    Protein attributes for CST5 Gene

    142 amino acids
    Molecular mass:
    16080 Da
    Quaternary structure:
    • Monomer.

    Three dimensional structures from OCA and Proteopedia for CST5 Gene

neXtProt entry for CST5 Gene

Post-translational modifications for CST5 Gene

No Post-translational modifications

Other Protein References for CST5 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CST5 Gene

Domains & Families for CST5 Gene

Gene Families for CST5 Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CST5 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 CST5: view

Function for CST5 Gene

Molecular function for CST5 Gene

GENATLAS Biochemistry:
cystatin D,cysteine proteinase inhibitor,found at high levels in salviva,tears,seminal plasma,type 2 family
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Temperature dependence: Thermostable. {ECO:0000269 PubMed:8083219};
UniProtKB/Swiss-Prot Function:
Cysteine proteinase inhibitor that possibly plays a protective role against proteinases present in the oral cavity. The order of preference for inhibition is cathepsin S > cathepsin H > cathepsin L > cathepsin B.

Phenotypes From GWAS Catalog for CST5 Gene

Gene Ontology (GO) - Molecular Function for CST5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IBA --
GO:0004869 cysteine-type endopeptidase inhibitor activity IDA,TAS 8083219
GO:0005515 protein binding IPI 8083219
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with CST5: view
genes like me logo Genes that share phenotypes with CST5: view

Animal Models for CST5 Gene

MGI Knock Outs for CST5:

Animal Model Products

CRISPR Products

miRNA for CST5 Gene

miRTarBase miRNAs that target CST5

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CST5 Gene

Localization for CST5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CST5 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 CST5 gene
Compartment Confidence
extracellular 5
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CST5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA,IDA 8083219
GO:0005615 extracellular space IBA --
GO:0070062 extracellular exosome HDA,IDA 19199708
genes like me logo Genes that share ontologies with CST5: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CST5 Gene

Pathways & Interactions for CST5 Gene

genes like me logo Genes that share pathways with CST5: view

Pathways by source for CST5 Gene

1 BioSystems pathway for CST5 Gene
1 KEGG pathway for CST5 Gene

Interacting Proteins for CST5 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
Selected Interacting proteins: P28325-CYTD_HUMAN ENSP00000307132 for CST5 Gene via IID STRING

Gene Ontology (GO) - Biological Process for CST5 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 CST5: view

No data available for SIGNOR curated interactions for CST5 Gene

Drugs & Compounds for CST5 Gene

(2) Drugs for CST5 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tumor necrosis factor alpha (TNF-alpha) inhibitors Pharma 0
genes like me logo Genes that share compounds with CST5: view

Transcripts for CST5 Gene

mRNA/cDNA for CST5 Gene

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

Unigene Clusters for CST5 Gene

Cystatin D:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for CST5 Gene

No ASD Table

Relevant External Links for CST5 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CST5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CST5 Gene

mRNA differential expression in normal tissues according to GTEx for CST5 Gene

This gene is overexpressed in Esophagus - Muscularis (x27.0), Adrenal Gland (x7.5), and Lung (x6.3).

Protein differential expression in normal tissues from HIPED for CST5 Gene

This gene is overexpressed in Skin (37.9) and Salivary gland (28.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CST5 Gene

Protein tissue co-expression partners for CST5 Gene

NURSA nuclear receptor signaling pathways regulating expression of CST5 Gene:


SOURCE GeneReport for Unigene cluster for CST5 Gene:


mRNA Expression by UniProt/SwissProt for CST5 Gene:

Tissue specificity: Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in parotid gland but not in seminal vesicle, prostate, epididymis, testis, ovary, placenta, thyroid, gastric corpus, small intestine, liver, or gall bladder tissue.

Evidence on tissue expression from TISSUES for CST5 Gene

  • Saliva(4.4)
  • Blood(4)
genes like me logo Genes that share expression patterns with CST5: view

Primer Products

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 CST5 Gene

Orthologs for CST5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CST5 Gene

Organism Taxonomy Gene Similarity Type Details
(Rattus norvegicus)
Mammalia Cst5 33
  • 59.42 (n)
(Mus musculus)
Mammalia Cst10 33 16 34
  • 57.62 (n)
(Bos Taurus)
Mammalia CST3 34
  • 46 (a)
(Canis familiaris)
Mammalia -- 34
  • 46 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 36 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 35 (a)
(Gallus gallus)
Aves gga-mir-3526 34
  • 32 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 35 (a)
(Danio rerio)
Actinopterygii cst3 34
  • 28 (a)
Species where no ortholog for CST5 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • 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 CST5 Gene

Gene Tree for CST5 (if available)
Gene Tree for CST5 (if available)

Paralogs for CST5 Gene

Paralogs for CST5 Gene

(10) SIMAP similar genes for CST5 Gene using alignment to 1 proteins: Pseudogenes for CST5 Gene

genes like me logo Genes that share paralogs with CST5: view

Variants for CST5 Gene

Sequence variations from dbSNP and Humsavar for CST5 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000308798 -- 23,880,324(-) G/A upstream_transcript_variant
rs1000669176 -- 23,876,987(-) C/G intron_variant
rs1000863038 -- 23,881,335(-) G/A upstream_transcript_variant
rs1000912017 -- 23,881,085(-) G/A upstream_transcript_variant
rs1001207326 -- 23,876,745(-) C/A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CST5 Gene

Variant ID Type Subtype PubMed ID
nsv979418 CNV duplication 23825009
nsv833944 CNV gain 17160897
nsv585730 CNV gain 21841781
esv3893322 CNV gain 25118596
esv3645539 CNV gain 21293372
dgv654e201 CNV deletion 23290073

Variation tolerance for CST5 Gene

Residual Variation Intolerance Score: 85.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.78; 33.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CST5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CST5 Gene

Disorders for CST5 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CST5 Gene - From: DISEASES

Disorder Aliases PubMed IDs
central corneal ulcer
- elite association - COSMIC cancer census association via MalaCards
Search CST5 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CST5

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CST5: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CST5 Gene

Publications for CST5 Gene

  1. Structure and expression of the gene encoding cystatin D, a novel human cysteine proteinase inhibitor. (PMID: 1939105) Freije JP … López-Otín C (The Journal of biological chemistry 1991) 2 3 4 22 58
  2. Crystal structure of human cystatin D, a cysteine peptidase inhibitor with restricted inhibition profile. (PMID: 15728581) Alvarez-Fernandez M … Su XD (The Journal of biological chemistry 2005) 3 4 22 58
  3. Structural and functional characterization of two allelic variants of human cystatin D sharing a characteristic inhibition spectrum against mammalian cysteine proteinases. (PMID: 8083219) Balbín M … Abrahamson M (The Journal of biological chemistry 1994) 3 4 22 58
  4. Human cystatin D. cDNA cloning, characterization of the Escherichia coli expressed inhibitor, and identification of the native protein in saliva. (PMID: 8340398) Freije JP … López-Otín C (The Journal of biological chemistry 1993) 3 4 22 58
  5. Confident assignment of intact mass tags to human salivary cystatins using top-down Fourier-transform ion cyclotron resonance mass spectrometry. (PMID: 20189825) Ryan CM … Whitelegge JP (Journal of the American Society for Mass Spectrometry 2010) 4 22 58

Products for CST5 Gene

Sources for CST5 Gene

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