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Aliases for CST8 Gene

Aliases for CST8 Gene

  • Cystatin 8 2 3 5
  • Cystatin-Related Epididymal Spermatogenic Protein 3 4
  • Cystatin 8 (Cystatin-Related Epididymal Specific) 2 3
  • CRES 3 4
  • Cystatin-8 3
  • CTES5 3

External Ids for CST8 Gene

Previous GeneCards Identifiers for CST8 Gene

  • GC20P023459
  • GC20P023466
  • GC20P023419
  • GC20P023471

Summaries for CST8 Gene

Entrez Gene Summary for CST8 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 similar to type 2 cystatins. The encoded protein exhibits highly tissue-specific expression in the reproductive tract, suggesting implicit roles in reproduction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

GeneCards Summary for CST8 Gene

CST8 (Cystatin 8) is a Protein Coding gene. Diseases associated with CST8 include Familial Atrial Fibrillation. Gene Ontology (GO) annotations related to this gene include cysteine-type endopeptidase inhibitor activity.

UniProtKB/Swiss-Prot for CST8 Gene

  • Performs a specialized role during sperm development and maturation.

Gene Wiki entry for CST8 Gene

Additional gene information for CST8 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CST8 Gene

Genomics for CST8 Gene

GeneHancer (GH) Regulatory Elements for CST8 Gene

Promoters and enhancers for CST8 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
GH20J023491 Promoter 0.5 EPDnew 650.7 +0.0 23 0.1 CST8 ENSG00000276638 GC20P023496 ENSG00000260202
GH20J023179 Enhancer 1.1 FANTOM5 Ensembl ENCODE 58.7 -310.6 -310579 1.4 PKNOX1 ATF1 RXRA GABPA ZNF592 NR2F2 NFIC ZFP3 EGR1 VEZF1 ENSG00000275179 CST8 CST9L CSTL1 CD93 ENSG00000234832 NXT1 ENSG00000230387 LOC100505664
GH20J023658 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 14.7 +169.2 169214 3.9 HDGF FOXA2 MLX ZFP64 ARID4B YBX1 DMAP1 SLC30A9 ZNF207 PAF1 NXT1 ENSG00000230908 CST13P ENSG00000260202 CST8 CST12P CST11 POM121L3P LOC100419956 CST9
GH20J023454 Enhancer 0.7 FANTOM5 ENCODE 5.3 -34.9 -34929 2.6 ZNF316 ZMYM3 EMSY MAFK ENSG00000200208 GC20M023457 NAPB CST8 NXT1 CST11 CSTL1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CST8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CST8 gene promoter:
  • AP-1
  • C/EBPbeta
  • c-Jun
  • ATF-2
  • Ik-2
  • C/EBPalpha
  • Sox5
  • GATA-6
  • PPAR-gamma2
  • PPAR-gamma1

Genomic Locations for CST8 Gene

Genomic Locations for CST8 Gene
16,053 bases
Plus strand
4,918 bases
Plus strand

Genomic View for CST8 Gene

Genes around CST8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CST8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CST8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CST8 Gene

Proteins for CST8 Gene

  • Protein details for CST8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • Q2M2X6

    Protein attributes for CST8 Gene

    142 amino acids
    Molecular mass:
    16275 Da
    Quaternary structure:
    No Data Available

neXtProt entry for CST8 Gene

Post-translational modifications for CST8 Gene

  • Glycosylation at posLast=3939 and Asn27
  • Modification sites at PhosphoSitePlus

Other Protein References for CST8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CST8 Gene

Domains & Families for CST8 Gene

Gene Families for CST8 Gene

Human Protein Atlas (HPA):
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CST8 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 CST8: view

Function for CST8 Gene

Molecular function for CST8 Gene

UniProtKB/Swiss-Prot Function:
Performs a specialized role during sperm development and maturation.

Phenotypes From GWAS Catalog for CST8 Gene

Gene Ontology (GO) - Molecular Function for CST8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002020 protease binding IBA --
GO:0004869 cysteine-type endopeptidase inhibitor activity IBA,TAS --
GO:0030414 peptidase inhibitor activity IEA --
genes like me logo Genes that share ontologies with CST8: view
genes like me logo Genes that share phenotypes with CST8: view

Animal Models for CST8 Gene

MGI Knock Outs for CST8:

Animal Model Products

  • Taconic Biosciences Mouse Models for CST8

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CST8 Gene

Localization for CST8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CST8 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 CST8 gene
Compartment Confidence
extracellular 5
nucleus 2
plasma membrane 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CST8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005615 extracellular space IBA --
GO:0005737 cytoplasm IEA --
GO:0009986 cell surface IEA --
genes like me logo Genes that share ontologies with CST8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CST8 Gene

Pathways & Interactions for CST8 Gene

No Data Available

Interacting Proteins for CST8 Gene

Gene Ontology (GO) - Biological Process for CST8 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 --
GO:2000117 negative regulation of cysteine-type endopeptidase activity IBA --
genes like me logo Genes that share ontologies with CST8: view

No data available for Pathways by source and SIGNOR curated interactions for CST8 Gene

Drugs & Compounds for CST8 Gene

(1) Drugs for CST8 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CST8: view

Transcripts for CST8 Gene

mRNA/cDNA for CST8 Gene

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

Unigene Clusters for CST8 Gene

Cystatin 8 (cystatin-related epididymal specific):
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CST8 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b
SP1: -

Relevant External Links for CST8 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CST8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CST8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CST8 Gene

This gene is overexpressed in Testis (x52.7).

Protein differential expression in normal tissues from HIPED for CST8 Gene

This gene is overexpressed in Testis (56.2) and CD8 Tcells (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CST8 Gene

Protein tissue co-expression partners for CST8 Gene

NURSA nuclear receptor signaling pathways regulating expression of CST8 Gene:


SOURCE GeneReport for Unigene cluster for CST8 Gene:


mRNA Expression by UniProt/SwissProt for CST8 Gene:

Tissue specificity: Proximal caput region of the epididymis. Lower expression in the testis. Within the testis it is localized to the elongating spermatids, whereas within the epididymis it is exclusively synthesized by the proximal caput epithelium.

Evidence on tissue expression from TISSUES for CST8 Gene

  • Saliva(4)
genes like me logo Genes that share expression patterns with CST8: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for CST8 Gene

Orthologs for CST8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CST8 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia CST8 34 33
  • 98.83 (n)
(Canis familiaris)
Mammalia LOC485735 33
  • 81.46 (n)
CST8 34
  • 68 (a)
(Rattus norvegicus)
Mammalia Cst8 33
  • 73.58 (n)
(Mus musculus)
Mammalia Cst8 16 34 33
  • 73.05 (n)
(Bos Taurus)
Mammalia CST8 34 33
  • 71.23 (n)
(Gallus gallus)
Aves gga-mir-3526 34
  • 25 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 28 (a)
(Danio rerio)
Actinopterygii cst3 34
  • 26 (a)
Species where no ortholog for CST8 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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 CST8 Gene

Gene Tree for CST8 (if available)
Gene Tree for CST8 (if available)
Evolutionary constrained regions (ECRs) for CST8: view image

Paralogs for CST8 Gene

(9) SIMAP similar genes for CST8 Gene using alignment to 2 proteins:

  • A2A2N0_HUMAN
genes like me logo Genes that share paralogs with CST8: view

No data available for Paralogs for CST8 Gene

Variants for CST8 Gene

Sequence variations from dbSNP and Humsavar for CST8 Gene

SNP ID Clin Chr 20 pos Variation AA Info Type
rs1000021993 -- 23,500,007(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000143913 -- 23,498,122(+) T/G genic_downstream_transcript_variant, intron_variant
rs1000196691 -- 23,498,446(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000276092 -- 23,505,161(+) T/G genic_downstream_transcript_variant, intron_variant
rs1000904377 -- 23,494,971(+) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CST8 Gene

Variant ID Type Subtype PubMed ID
esv3645525 CNV gain 21293372
nsv1063655 CNV gain 25217958
nsv1065390 CNV loss 25217958
nsv458949 CNV gain 19166990
nsv470544 CNV gain 18288195
nsv585722 CNV loss 21841781
nsv585723 CNV gain 21841781

Variation tolerance for CST8 Gene

Residual Variation Intolerance Score: 79% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.30; 53.25% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CST8 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 CST8 Gene

Disorders for CST8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for CST8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
familial atrial fibrillation
  • atrial fibrillation, familial, 1
- elite association - COSMIC cancer census association via MalaCards
Search CST8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CST8

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 CST8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CST8 Gene

Publications for CST8 Gene

  1. Transient appearance of CRES protein during spermatogenesis and caput epididymal sperm maturation. (PMID: 7619504) Cornwall GA … Hann SR (Molecular reproduction and development 1995) 2 4 22 58
  2. Evolution and human tissue expression of the Cres/Testatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cystatins. (PMID: 20565543) Frygelius J … Töhönen V (Evolution & development 2010) 2 3 58
  3. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PMID: 19204726) Chapuis J … Lambert JC (Molecular psychiatry 2009) 3 44 58
  4. Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PMID: 16740002) Ramachandran P … Loo JA (Journal of proteome research 2006) 3 4 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for CST8 Gene

Sources for CST8 Gene

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