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 cysta... See more...

Aliases for CST5 Gene

Aliases for CST5 Gene

  • Cystatin D 2 3 5
  • Cystatin-D 3 4
  • Cysteine-Proteinase Inhibitor 3
  • Cystatin 5 3
  • Cystatin-5 4
  • CST5 5

External Ids for CST5 Gene

Previous GeneCards Identifiers for CST5 Gene

  • GC20M023844
  • GC20M023804
  • GC20M023851

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 Cerebral Amyloid Angiopathy, Cst3-Related and Tick Paralysis. 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 CST2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for CST5 Gene

Genomics for CST5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CST5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J023879 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 619 -0.6 -553 1.8 GATAD2A TFE3 SOX13 RXRB CEBPA ETS1 TCF7 ZBTB26 RNF2 ZKSCAN8 CST5 piR-41525-404 GGTLC1
GH20J023878 Enhancer 0.2 Ensembl 617.8 +1.5 1477 0.7 CST5 lnc-CST8-6 CST2
GH20J023881 Enhancer 0.2 Ensembl 600.7 -2.0 -1953 0.2 CST5 piR-41525-404 GGTLC1
GH20J023866 Enhancer 0.6 Ensembl ENCODE 8.9 +12.7 12747 1.2 ATF7 MAFF MAFK ATF2 SPI1 JUND CST5 CST2 piR-58929-057 lnc-CST8-6
GH20J023868 Enhancer 0.5 Ensembl ENCODE 8.8 +9.8 9846 3.8 SMARCA4 NANOG CST5 lnc-CST8-6 piR-58929-057 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 CST5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CST5

Top Transcription factor binding sites by QIAGEN in the CST5 gene promoter:
  • MyoD
  • Nkx2-5
  • Nkx5-1
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • TGIF
  • Zic1

Genomic Locations for CST5 Gene

Genomic Locations for CST5 Gene
chr20:23,875,934-23,879,748
(GRCh38/hg38)
Size:
3,815 bases
Orientation:
Minus strand
chr20:23,856,572-23,860,387
(GRCh37/hg19)
Size:
3,816 bases
Orientation:
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:
    P28325-CYTD_HUMAN
    Recommended name:
    Cystatin-D
    Protein Accession:
    P28325
    Secondary Accessions:
    • Q5JRF5
    • Q9UCA0

    Protein attributes for CST5 Gene

    Size:
    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:

Assay Products

  • Boster Bio ELISA Kits for CST5
  • Signalway ELISA kits for CST5

No data available for DME Specific Peptides for CST5 Gene

Domains & Families for CST5 Gene

Gene Families for CST5 Gene

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

Protein Domains for CST5 Gene

InterPro:
Blocks:
  • Cysteine protease inhibitor
  • Proteinase inhibitor I25A and I25B, type 2 and phytocystatins
ProtoNet:

Suggested Antigen Peptide Sequences for CST5 Gene

GenScript: Design optimal peptide antigens:
  • Cystatin-5 (CYTD_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P28325

UniProtKB/Swiss-Prot:

CYTD_HUMAN :
  • Belongs to the cystatin family.
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

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.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Temperature dependence: Thermostable. {ECO:0000269|PubMed:8083219};
GENATLAS Biochemistry:
cystatin D,cysteine proteinase inhibitor,found at high levels in salviva,tears,seminal plasma,type 2 family

Phenotypes From GWAS Catalog for CST5 Gene

Gene Ontology (GO) - Molecular Function for CST5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004869 cysteine-type endopeptidase inhibitor activity TAS,IDA 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

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CST5

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

Secreted.

Subcellular locations from

COMPARTMENTS
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
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 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 21873635
GO:0070062 extracellular exosome HDA 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

PathCards logo

SuperPathways 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

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:0010951 negative regulation of endopeptidase activity IEA --
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 :
4 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CST5

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

No ASD Table

Relevant External Links for CST5 Gene

GeneLoc Exon Structure for
CST5

Expression for CST5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CST5

SOURCE GeneReport for Unigene cluster for CST5 Gene:

Hs.121489

mRNA Expression by UniProt/SwissProt for CST5 Gene:

P28325-CYTD_HUMAN
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(4.2)
genes like me logo Genes that share expression patterns with CST5: 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 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
Rat
(Rattus norvegicus)
Mammalia Cst5 30
  • 59.42 (n)
Mouse
(Mus musculus)
Mammalia Cst10 30 17 31
  • 57.62 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 46 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia CST3 31
  • 46 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 36 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 35 (a)
OneToMany
Chicken
(Gallus gallus)
Aves gga-mir-3526 31
  • 32 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 35 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii cst3 31
  • 28 (a)
ManyToMany
Species where no ortholog for CST5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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

ENSEMBL:
Gene Tree for CST5 (if available)
TreeFam:
Gene Tree for CST5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CST5: view image

Paralogs for CST5 Gene

Paralogs for CST5 Gene

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

  • CYTD_HUMAN

Pseudogenes.org Pseudogenes for CST5 Gene

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

Variants for CST5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CST5 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
rs1799841 - p.Cys46Arg

Additional dbSNP identifiers (rs#s) for CST5 Gene

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

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

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
CST5

SNP Genotyping and Copy Number Assay Products

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

Disorders for CST5 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
cerebral amyloid angiopathy, cst3-related
  • amyloidosis, cerebroarterial, icelandic type
tick paralysis
- 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
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 23
  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 23
  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 23
  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 23
  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 23

Products for CST5 Gene

  • Boster Bio Antibodies for CST5
  • Boster Bio ELISA Kits for CST5

Sources for CST5 Gene