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Aliases for CST6 Gene

Aliases for CST6 Gene

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

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. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase inhibitor activity. An important paralog of this gene is CST3.

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

Additional gene information for CST6 Gene

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

Genomics for CST6 Gene

GeneHancer (GH) Regulatory Elements for CST6 Gene

Promoters and enhancers for CST6 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
GH11J066010 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 661.5 +0.4 441 2.9 PKNOX1 CLOCK NEUROD1 SIN3A NFXL1 ZBTB7B GATA2 SCRT2 ZFP91 FOS CST6 EIF1AD ENSG00000258297 RBM14 SF3B2 RBM4 PCNX3 SART1 MUS81 RCE1
GH11J065886 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 -116.4 -116383 18.4 CLOCK ZFP64 FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 ZNF263 SP3 FOSL1 FIBP DRAP1 RBM14 ENSG00000258297 KAT5 MUS81 SART1 SF3B2 RBM4
GH11J066342 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.3 +336.7 336704 11.8 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 LOC102724064 B4GAT1 TRS-GCT3-1 RBM14 ENSG00000258297 LOC105369352 RBM4 EIF1AD RIN1 ENSG00000255320
GH11J065927 Enhancer 1.3 FANTOM5 Ensembl ENCODE 18.1 -83.6 -83596 2.4 HDGF SMAD1 RB1 NFRKB ZBTB40 IRF4 TCF12 ZNF766 ZNF143 ETV6 EIF1AD CST6 CCDC85B FIBP CTSW SART1 FOSL1 CFL1 MUS81 BANF1
GH11J066333 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 9.3 +324.8 324838 6.2 HDGF PKNOX1 FOXA2 MLX ARID4B SIN3A DMAP1 ZBTB7B IRF4 SLC30A9 RIN1 ACTN3 ENSG00000254458 B4GAT1 RAB1B LOC105369351 LOC105369352 ENSG00000255320 PACS1 BANF1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CST6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CST6 gene promoter:
  • STAT3
  • NF-1/L
  • NF-1
  • E47
  • Hand1
  • RORalpha1
  • c-Myb
  • FOXO1a

Genomic Locations for CST6 Gene

Genomic Locations for CST6 Gene
chr11:66,011,841-66,013,505
(GRCh38/hg38)
Size:
1,665 bases
Orientation:
Plus strand
chr11:65,779,312-65,780,976
(GRCh37/hg19)
Size:
1,665 bases
Orientation:
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:
    Q15828-CYTM_HUMAN
    Recommended name:
    Cystatin-M
    Protein Accession:
    Q15828
    Secondary Accessions:
    • Q540N7

    Protein attributes for CST6 Gene

    Size:
    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

Post-translational modifications for CST6 Gene

  • Substrate for transglutaminases. Acts as an acyl acceptor but not as an acyl donor.
  • Glycosylation at posLast=137137
  • Modification sites at PhosphoSitePlus

Other Protein References for CST6 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for CST6
  • Boster Bio Antibodies for CST6

No data available for DME Specific Peptides for CST6 Gene

Domains & Families for CST6 Gene

Gene Families for CST6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CST6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q15828

UniProtKB/Swiss-Prot:

CYTM_HUMAN :
  • Belongs to the cystatin family.
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

UniProtKB/Swiss-Prot Function:
Shows moderate inhibition of cathepsin B but is not active against cathepsin C.
GENATLAS Biochemistry:
cystatin M,member of type 2 cystatin gene family,found at high levels in saliva,tears,seminal plasma,type 2 family

Phenotypes From GWAS Catalog for CST6 Gene

Gene Ontology (GO) - Molecular Function for CST6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IBA --
GO:0004869 cysteine-type endopeptidase inhibitor activity TAS,IBA --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with CST6: view
genes like me logo Genes that share phenotypes with CST6: view

Animal Model Products

miRNA for CST6 Gene

miRTarBase miRNAs that target CST6

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

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 CST6 gene
Compartment Confidence
extracellular 5
plasma membrane 3
cytosol 2
lysosome 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CST6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope IEA --
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA --
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with CST6: view

Pathways & Interactions for CST6 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CST6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008544 epidermis development IEA --
GO:0009653 anatomical structure morphogenesis TAS 9099741
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 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:

Clone Products

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

No ASD Table

Relevant External Links for CST6 Gene

GeneLoc Exon Structure for
CST6
ECgene alternative splicing isoforms for
CST6

Expression for CST6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 and MOPED for CST6 Gene



NURSA nuclear receptor signaling pathways regulating expression of CST6 Gene:

CST6

SOURCE GeneReport for Unigene cluster for CST6 Gene:

Hs.139389

mRNA Expression by UniProt/SwissProt for CST6 Gene:

Q15828-CYTM_HUMAN
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.

Evidence on tissue expression from TISSUES for CST6 Gene

  • Blood(4.2)
  • Skin(2.9)
genes like me logo Genes that share expression patterns with CST6: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia CST6 34 33
  • 99.78 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CST6 34 33
  • 86.09 (n)
OneToMany
-- 34
  • 81 (a)
OneToMany
dog
(Canis familiaris)
Mammalia CST6 34 33
  • 82.8 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Cst6 16 34 33
  • 80.09 (n)
rat
(Rattus norvegicus)
Mammalia Cst6 33
  • 79.19 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CST6 34
  • 47 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 44 (a)
OneToMany
-- 34
  • 43 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 41 (a)
OneToMany
-- 34
  • 28 (a)
OneToMany
Species where no ortholog for CST6 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)
  • 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

ENSEMBL:
Gene Tree for CST6 (if available)
TreeFam:
Gene Tree for CST6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CST6: view image

Paralogs for CST6 Gene

Paralogs for CST6 Gene

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

  • CYTM_HUMAN
  • Q6IBD2_HUMAN
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 Variation AA Info Type
rs1001849317 -- 66,013,478(+) C/A 3_prime_UTR_variant
rs1002956166 -- 66,011,891(+) A/G upstream_transcript_variant
rs1002988565 -- 66,012,150(+) G/A coding_sequence_variant, missense_variant
rs1003294198 -- 66,010,308(+) C/T upstream_transcript_variant
rs1003729896 -- 66,010,554(+) C/T upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv825952 CNV gain 20364138
nsv832191 CNV loss 17160897

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)

Additional Variant Information for CST6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CST6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CST6 Gene

Disorders for CST6 Gene

Additional Disease Information for CST6

No disorders were found for CST6 Gene.

No data available for MalaCards , 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 (The Journal of biological chemistry 1997) 2 3 4 22 58
  2. The human cystatin M/E gene (CST6): exclusion candidate gene for harlequin ichthyosis. (PMID: 12839564) Zeeuwen PL … Schalkwijk J (The Journal of investigative dermatology 2003) 3 4 22 58
  3. Cystatin M/E expression is restricted to differentiated epidermal keratinocytes and sweat glands: a new skin-specific proteinase inhibitor that is a target for cross-linking by transglutaminase. (PMID: 11348457) Zeeuwen PL … Schalkwijk J (The Journal of investigative dermatology 2001) 3 4 22 58
  4. Identification, cloning, and characterization of cystatin M, a novel cysteine proteinase inhibitor, down-regulated in breast cancer. (PMID: 8995380) Sotiropoulou G … Sager R (The Journal of biological chemistry 1997) 3 4 22 58
  5. Cystatin E/M suppresses legumain activity and invasion of human melanoma. (PMID: 20074384) Briggs JJ … Solberg R (BMC cancer 2010) 3 22 58

Products for CST6 Gene

Sources for CST6 Gene

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