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Aliases for CST8 Gene

Aliases for CST8 Gene

  • Cystatin 8 (Cystatin-Related Epididymal Specific) 2 3
  • Cystatin-Related Epididymal Spermatogenic Protein 3 4
  • CRES 3 4
  • 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 (Cystatin-Related Epididymal Specific)) is a Protein Coding gene. Diseases associated with CST8 include familial atrial fibrillation. GO annotations related to this gene include cysteine-type endopeptidase inhibitor activity. An important paralog of this gene is CST2.

UniProtKB/Swiss-Prot for CST8 Gene

  • Performs a specialized role during sperm development and maturation

Gene Wiki entry for CST8 Gene

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

Genomics for CST8 Gene

Regulatory Elements for CST8 Gene

Genomic Location for CST8 Gene

Chromosome:
20
Start:
23,491,076 bp from pter
End:
23,507,128 bp from pter
Size:
16,053 bases
Orientation:
Plus strand

Genomic View for CST8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    O60676-CST8_HUMAN
    Recommended name:
    Cystatin-8
    Protein Accession:
    O60676
    Secondary Accessions:
    • Q2M2X6

    Protein attributes for CST8 Gene

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

neXtProt entry for CST8 Gene

Proteomics data for CST8 Gene at MOPED

Post-translational modifications for CST8 Gene

  • Glycosylation at Asn 27 and Asn 39
  • Modification sites at PhosphoSitePlus

Other Protein References for CST8 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CST8 Gene

Domains & Families for CST8 Gene

Gene Families for CST8 Gene

Suggested Antigen Peptide Sequences for CST8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60676

UniProtKB/Swiss-Prot:

CST8_HUMAN :
  • Belongs to the cystatin family.
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

Gene Ontology (GO) - Molecular Function for CST8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004869 cysteine-type endopeptidase 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

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CST8

In Situ Assay Products

Flow Cytometry Products

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

Localization for CST8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CST8 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CST8 Gene COMPARTMENTS Subcellular localization image for CST8 gene
Compartment Confidence
extracellular 5
nucleus 2

Gene Ontology (GO) - Cellular Components for CST8 Gene

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

Pathways & Interactions for CST8 Gene

SuperPathways 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:0010951 negative regulation of endopeptidase activity TAS 1280328
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
cysteine Nutra 143
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CST8

Flow Cytometry Products

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

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b
SP1: -
SP2:

Relevant External Links for CST8 Gene

GeneLoc Exon Structure for
CST8
ECgene alternative splicing isoforms for
CST8

Expression for CST8 Gene

mRNA expression in normal human tissues 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



SOURCE GeneReport for Unigene cluster for CST8 Gene Hs.121602

mRNA Expression by UniProt/SwissProt for CST8 Gene

O60676-CST8_HUMAN
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
genes like me logo Genes that share expression patterns with CST8: view

Protein tissue co-expression partners for CST8 Gene

Primer Products

In Situ Assay Products

Orthologs for CST8 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CST8 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CST8 35
  • 71.23 (n)
  • 58.12 (a)
CST8 36
  • 52 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC485735 35
  • 81.46 (n)
  • 67.61 (a)
CST8 36
  • 68 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cst8 35
  • 73.05 (n)
  • 58.87 (a)
Cst8 16
Cst8 36
  • 58 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CST8 35
  • 98.83 (n)
  • 99.3 (a)
CST8 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cst8 35
  • 73.58 (n)
  • 60.74 (a)
chicken
(Gallus gallus)
Aves gga-mir-3526 36
  • 25 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 28 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii cst3 36
  • 26 (a)
ManyToMany
Species with no ortholog for CST8:
  • 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

ENSEMBL:
Gene Tree for CST8 (if available)
TreeFam:
Gene Tree for CST8 (if available)

Paralogs for CST8 Gene

Paralogs for CST8 Gene

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

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

Variants for CST8 Gene

Sequence variations from dbSNP and Humsavar for CST8 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type MAF
rs238671 -- 23,507,587(-) ccaca(C/T)GCACT downstream-variant-500B
rs238672 -- 23,506,960(-) TGGTG(C/T)TCAAG nc-transcript-variant
rs238673 -- 23,500,778(+) AGGTG(A/G)AGGGT intron-variant
rs1054633 - 23,495,909(+) AAGAT(C/G)CTTAA missense, reference, nc-transcript-variant
rs1802329 -- 23,495,903(+) AGTGT(G/T)AAGAT reference, stop-gained, nc-transcript-variant

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

Variant ID Type Subtype PubMed ID
dgv4559n71 CNV Gain 21882294
nsv912820 CNV Gain+Loss 21882294
nsv470544 CNV Gain 18288195
nsv458949 CNV Gain 19166990

Variation tolerance for CST8 Gene

Residual Variation Intolerance Score: 79.04% 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)

Relevant External Links for CST8 Gene

HapMap Linkage Disequilibrium report
CST8

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
Search CST8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CST8

Genetic Association Database (GAD)
CST8
Human Genome Epidemiology (HuGE) Navigator
CST8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CST8
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 G.A. … Hann S.R. (Mol. Reprod. Dev. 1995) 2 23 67
  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. … TAPhAPnen V. (Evol. Dev. 2010) 2 67
  3. Cystatins: biochemical and structural properties, and medical relevance. (PMID: 18508595) Turk V. … Turk D. (Front. Biosci. 2008) 23 67
  4. Extracellular quality control in the epididymis. (PMID: 17589787) Cornwall G.A. … Whelly S. (Asian J. Androl. 2007) 23 67
  5. Expression analysis of genes identified by molecular profiling of VGP melanomas and MGP melanoma-positive lymph nodes. (PMID: 14726712) McDonald S.L. … Becker D. (Cancer Biol. Ther. 2004) 23 67

Products for CST8 Gene

Sources for CST8 Gene

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