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Aliases for CST6 Gene

Aliases for CST6 Gene

  • Cystatin E/M 2 3 5
  • Cystatin-6 3 4
  • Cystatin-E 3 4
  • Cysteine Proteinase Inhibitor 3
  • Cystatin M/E 3
  • Cystatin 6 3
  • Cystatin M 3

External Ids for CST6 Gene

Previous GeneCards Identifiers for CST6 Gene

  • GC11P068313
  • GC11P067460
  • GC11P065554
  • GC11P065536
  • GC11P065779
  • GC11P062105

Summaries for CST6 Gene

Entrez Gene Summary for CST6 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. This gene encodes a cystatin from the type 2 family, which is down-regulated in metastatic breast tumor cells as compared to primary tumor cells. Loss of expression is likely associated with the progression of a primary tumor to a metastatic phenotype. [provided by RefSeq, Jul 2008]

GeneCards Summary for CST6 Gene

CST6 (Cystatin E/M) is a Protein Coding gene. Diseases associated with CST6 include Ichthyosis, Autosomal Recessive 4B and Breast Cancer. GO annotations related to this gene include cysteine-type endopeptidase inhibitor activity. An important paralog of this gene is CST7.

UniProtKB/Swiss-Prot for CST6 Gene

  • Shows moderate inhibition of cathepsin B but is not active against cathepsin C.

Gene Wiki entry for CST6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CST6 Gene

Genomics for CST6 Gene

Regulatory Elements for CST6 Gene

Enhancers for CST6 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CST6 on UCSC Golden Path with GeneCards custom track

Genomic Location for CST6 Gene

66,011,841 bp from pter
66,013,505 bp from pter
1,665 bases
Plus strand

Genomic View for CST6 Gene

Genes around CST6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CST6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CST6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CST6 Gene

Proteins for CST6 Gene

  • Protein details for CST6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q540N7

    Protein attributes for CST6 Gene

    149 amino acids
    Molecular mass:
    16511 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CST6 Gene

neXtProt entry for CST6 Gene

Proteomics data for CST6 Gene at MOPED

Post-translational modifications for CST6 Gene

  • Substrate for transglutaminases. Acts as an acyl acceptor but not as an acyl donor.
  • Glycosylation at Asn 137
  • Modification sites at PhosphoSitePlus

Other Protein References for CST6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for CST6

No data available for DME Specific Peptides for CST6 Gene

Domains & Families for CST6 Gene

Gene Families for CST6 Gene

Suggested Antigen Peptide Sequences for CST6 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 CST6: view

Function for CST6 Gene

Molecular function for CST6 Gene

GENATLAS Biochemistry:
cystatin M,member of type 2 cystatin gene family,found at high levels in saliva,tears,seminal plasma,type 2 family
UniProtKB/Swiss-Prot Function:
Shows moderate inhibition of cathepsin B but is not active against cathepsin C.
genes like me logo Genes that share phenotypes with CST6: view

Animal Model Products

miRNA for CST6 Gene

miRTarBase miRNAs that target CST6

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CST6 Gene

Localization for CST6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CST6 Gene


Subcellular locations from

Jensen Localization Image for CST6 Gene COMPARTMENTS Subcellular localization image for CST6 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 2
lysosome 2
vacuole 2

No data available for Gene Ontology (GO) - Cellular Components for CST6 Gene

Pathways & Interactions for CST6 Gene

SuperPathways for CST6 Gene

No Data Available

Interacting Proteins for CST6 Gene

Gene Ontology (GO) - Biological Process for CST6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development IEA --
GO:0010951 negative regulation of endopeptidase activity TAS 8995380
genes like me logo Genes that share ontologies with CST6: view

No data available for Pathways by source and SIGNOR curated interactions for CST6 Gene

Drugs & Compounds for CST6 Gene

(1) Drugs for CST6 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for CST6 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CST6: view

Transcripts for CST6 Gene

mRNA/cDNA for CST6 Gene

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

Unigene Clusters for CST6 Gene

Cystatin E/M:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CST6 Gene

No ASD Table

Relevant External Links for CST6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CST6 Gene

mRNA expression in normal human tissues for CST6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CST6 Gene

This gene is overexpressed in Skin - Not Sun Exposed (Suprapubic) (x30.0) and Skin - Sun Exposed (Lower leg) (x16.1).

Protein differential expression in normal tissues from HIPED for CST6 Gene

This gene is overexpressed in Urine (30.2), Serum (17.9), and Hair follicle (9.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CST6 Gene

SOURCE GeneReport for Unigene cluster for CST6 Gene Hs.139389

mRNA Expression by UniProt/SwissProt for CST6 Gene

Tissue specificity: Restricted to the stratum granulosum of normal skin, the stratum granulosum/spinosum of psoriatic skin, and the secretory coils of eccrine sweat glands. Low expression levels are found in the nasal cavity.
genes like me logo Genes that share expression patterns with CST6: view

Primer Products

No data available for Protein tissue co-expression partners for CST6 Gene

Orthologs for CST6 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CST6 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia CST6 35
  • 86.09 (n)
  • 77.95 (a)
-- 36
  • 81 (a)
CST6 36
  • 69 (a)
(Canis familiaris)
Mammalia CST6 35
  • 82.8 (n)
  • 75.4 (a)
CST6 36
  • 74 (a)
(Mus musculus)
Mammalia Cst6 35
  • 80.09 (n)
  • 69.13 (a)
Cst6 16
Cst6 36
  • 69 (a)
(Pan troglodytes)
Mammalia CST6 35
  • 99.78 (n)
  • 99.33 (a)
CST6 36
  • 99 (a)
(Rattus norvegicus)
Mammalia Cst6 35
  • 79.19 (n)
  • 69.8 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 44 (a)
-- 36
  • 43 (a)
(Ornithorhynchus anatinus)
Mammalia CST6 36
  • 47 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 28 (a)
-- 36
  • 41 (a)
Species with no ortholog for CST6:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • zebrafish (Danio rerio)

Evolution for CST6 Gene

Gene Tree for CST6 (if available)
Gene Tree for CST6 (if available)

Paralogs for CST6 Gene

Paralogs for CST6 Gene

(8) SIMAP similar genes for CST6 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with CST6: view

Variants for CST6 Gene

Sequence variations from dbSNP and Humsavar for CST6 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs603598 -- 66,010,523(-) gagtt(C/G)gagac upstream-variant-2KB
rs615646 -- 66,010,073(-) ttcag(C/T)ggaat upstream-variant-2KB
rs632578 -- 66,013,724(+) GAGCC(A/C)CCACA downstream-variant-500B
rs632640 -- 66,013,771(+) GGTGG(C/G)GGCAG downstream-variant-500B
rs1051196 -- 66,013,456(+) CTTCA(C/G)GTCCG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for CST6 Gene

Variant ID Type Subtype PubMed ID
nsv832191 CNV Loss 17160897
dgv1186n71 CNV Loss 21882294
nsv825952 CNV Gain 20364138

Variation tolerance for CST6 Gene

Residual Variation Intolerance Score: 47.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.43; 9.52% of all genes are more intolerant (likely to be disease-causing)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Relevant External Links for CST6 Gene

Disorders for CST6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CST6 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ichthyosis, autosomal recessive 4b
  • harlequin type ichthyosis
breast cancer
  • breast cancer, invasive ductal
- elite association - COSMIC cancer census association via MalaCards
Search CST6 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CST6

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CST6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CST6 Gene

Publications for CST6 Gene

  1. Cystatin E is a novel human cysteine proteinase inhibitor with structural resemblance to family 2 cystatins. (PMID: 9099741) Ni J. … Gentz R. (J. Biol. Chem. 1997) 2 3 4 23 67
  2. Cystatin E/M suppresses legumain activity and invasion of human melanoma. (PMID: 20074384) Briggs J.J. … Solberg R. (BMC Cancer 2010) 3 23
  3. Colocalization of cystatin M/E and its target proteases suggests a role in terminal differentiation of human hair follicle and nail. (PMID: 19005484) Cheng T. … Zeeuwen P.L. (J. Invest. Dermatol. 2009) 3 23
  4. Frequent loss of cystatin E/M expression implicated in the progression of prostate cancer. (PMID: 19503093) Pulukuri S.M. … Rao J.S. (Oncogene 2009) 3 23
  5. Methylation of cystatin M promoter is associated with unfavorable prognosis in operable breast cancer. (PMID: 19551853) Kioulafa M. … Lianidou E.S. (Int. J. Cancer 2009) 3 23

Products for CST6 Gene

Sources for CST6 Gene