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CST8 Gene

protein-coding   GIFtS: 50
GCID: GC20P023471

Cystatin 8 (Cystatin-Related Epididymal Specific)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cystatin 8 (Cystatin-Related Epididymal Specific)1 2
Cystatin-Related Epididymal Spermatogenic Protein2 3
CRES2 3
CTES52
cystatin-82

External Ids:    HGNC: 24801   Entrez Gene: 100472   Ensembl: ENSG000001258157   OMIM: 6086835   UniProtKB: O606763   

Export aliases for CST8 gene to outside databases

Previous GC identifers: GC20P023459 GC20P023466 GC20P023419


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 epididymitis, and choriocarcinoma. GO annotations related to this gene include cysteine-type endopeptidase inhibitor activity. An important paralog of this gene is CST4.

UniProtKB/Swiss-Prot: CST8_HUMAN, O60676
Function: Performs a specialized role during sperm development and maturation

Gene Wiki entry for CST8 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000020.11  NT_011387.9  NC_018931.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CST8 gene promoter:
         Sox5   C/EBPbeta   AP-1   ATF-2   C/EBPalpha   PPAR-gamma1   Ik-2   GATA-6   PPAR-gamma2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCST8 promoter sequence
   Search Chromatin IP Primers for CST8

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CST8


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p11.21   Ensembl cytogenetic band:  20p11.21   HGNC cytogenetic band: 20p11.21

CST8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CST8 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20P023471:  view genomic region     (about GC identifiers)

Start:
23,471,738 bp from pter      End:
23,476,655 bp from pter
Size:
4,918 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CST8_HUMAN, O60676 (See protein sequence)
Recommended Name: Cystatin-8 precursor  
Size: 142 amino acids; 16275 Da
Secondary accessions: Q2M2X6

Explore the universe of human proteins at neXtProt for CST8: NX_O60676

Explore proteomics data for CST8 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn27, Asn39

  • See CST8 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001268659.1  NP_005483.1  

    ENSEMBL proteins: 
     ENSP00000399144   ENSP00000246012  

    CST8 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for CST8


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR000010 Prot_inh_cystat
     IPR027214 Cystatin

    Graphical View of Domain Structure for InterPro Entry O60676

    ProtoNet protein and cluster: O60676

    2 Blocks protein domains:
    IPB000010 Cysteine protease inhibitor
    IPB003243 Proteinase inhibitor I25A and I25B


    UniProtKB/Swiss-Prot: CST8_HUMAN, O60676
    Similarity: Belongs to the cystatin family


    CST8 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CST8_HUMAN, O60676
    Function: Performs a specialized role during sperm development and maturation

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004869cysteine-type endopeptidase inhibitor activity IEA--
         
    CST8 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CST8:
     Decreased viability of wild-ty 

         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Cst8):
     no phenotypic analysis 

    CST8 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cst8tm1Cnw for CST8

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CST8
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CST8_HUMAN, O60676: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    cytosol1
    golgi apparatus1
    lysosome1
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0005737cytoplasm IEA--
    GO:0009986cell surface IEA--

    CST8 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CST8
    Interactions:

        GeneGlobe Interaction Network for CST8

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0010951negative regulation of endopeptidase activity TAS1280328

    CST8 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CST8

    1 Novoseek inferred chemical compound relationship for CST8 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 55.7 4 12586767 (1), 12644294 (1), 17589787 (1)



    CST8 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for CST8 gene (2 alternative transcripts): 
    NM_001281730.1  NM_005492.3  

    Unigene Cluster for CST8:

    Cystatin 8 (cystatin-related epididymal specific)
    Hs.121602  [show with all ESTs]
    Unigene Representative Sequence: AF059244
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000449810 ENST00000246012(uc002wth.1)
    miRNA
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    Additional mRNA sequence: 

    AF059244.1 BC069496.1 BC069536.1 BC105113.1 BC105119.1 

    2 DOTS entries:

    DT.310273  DT.92023909 

    11 AceView cDNA sequences:

    NM_005492 AA843468 BC069496 BX096109 BC069536 AF059244 AW665128 AA918572 
    AA436982 AA759355 AW665453 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for CST8    About this scheme

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


    ECgene alternative splicing isoforms for CST8

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CST8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    CST8 Expression
    About this image


    CST8 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 3 entries
             Pre-Granulosa Cells Primordial Follicle
     
     Testis (Reproductive System)    fully expand to see all 2 entries
             Testicular Interstitial Cells Testis Interstitium
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Liver (Hepatobiliary System)
             Hepatocytes Liver Lobule
    CST8 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CST8 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.121602

    UniProtKB/Swiss-Prot: CST8_HUMAN, O60676
    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

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    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for CST8 gene from Selected species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cst81 , 5 cystatin 8 (cystatin-related epididymal spermatogenic)1, 5 73.05(n)1
    58.87(a)1
      2 (73.56 cM)5
    130121  NM_009978.21  NP_034108.11 
     1487987855 
    chicken
    (Gallus gallus)
    Aves gga-mir-35266
    Gallus gallus cystatin C (CST3), mRNA.
    25(a)
    1 → many
    3(14928612-14932913)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    28(a)
    1 → many
    4(82204275-82217421)
    zebrafish
    (Danio rerio)
    Actinopterygii cst36
    cystatin C (amyloid angiopathy and cerebral hemorr...
    26(a)
    many ↔ many
    13(33900031-33908388) ENSDARG00000007795


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CST8 gene
    CST42  CST22  CSTL12  CST12  CST32  CST52  CST112  
    9 SIMAP similar genes for CST8 using alignment to 2 protein entries:     CST8_HUMAN (see all proteins):
    CST11    CST1    CST2    CST4    CST5    CST3
    CSTL1    CST7    CST6

    CST8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CST8 (see all 266)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1919837931,2
    --23469806(+) GAAGTA/GCAGAT 1 -- us2k10--------
    rs1393943061,2
    --23469851(+) GGAACC/TCCTGG 1 -- us2k10--------
    rs1845829081,2
    --23469857(+) CCTGGA/GGAACT 1 -- us2k10--------
    rs61379841,2
    C--23469864(+) AACTTT/AAAAAA 1 -- us2k1 tfbs33Minor allele frequency- A:0.15NA EA 242
    rs750024831,2
    C,F--23469910(+) ATTTTA/GTCAGT 1 -- us2k11Minor allele frequency- G:0.06WA 118
    rs1441706901,2
    --23469960(+) TAACAC/TGCAGC 1 -- us2k10--------
    rs750394181,2
    F--23470003(+) AGTGAC/TGAACA 1 -- us2k11Minor allele frequency- T:0.05WA 118
    rs760736881,2
    F--23470015(+) TTTGGC/TAATAA 1 -- us2k10--------
    rs1487044881,2
    --23470026(+) ATAATA/GAATTT 1 -- us2k10--------
    rs1894509781,2
    C--23470040(+) TTTGCA/GTAAAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CST8 (23471738 - 23476655 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for CST8:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv458949CNV Gain19166990
    dgv4559n71CNV Gain21882294
    nsv470544CNV Gain18288195
    nsv912820CNV Gain+Loss21882294

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608683    OMIM disorders: --

    10 diseases for CST8:    
    About MalaCards
    epididymitis    choriocarcinoma    tonsillitis    cerebritis
    t-cell leukemia    alzheimer's disease    melanoma    thyroiditis
    leukemia    endotheliitis


    CST8 for disorders           About GeneDecksing

    Genetic Association Database (GAD): CST8
    Human Genome Epidemiology (HuGE) Navigator: CST8 (1 document)

    Export disorders for CST8 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CST8 gene, integrated from 10 sources (see all 24):
    (articles sorted by number of sources associating them with CST8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transient appearance of CRES protein during spermatogenesis and caput epididymal sperm maturation. (PubMed id 7619504)2, 3, 9 Cornwall G.A. and Hann S.R. (Mol. Reprod. Dev. 1995)
    2. Evolution and human tissue expression of the Cres/Testatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cystatins. (PubMed id 20565543)1, 3 Frygelius J....TAPhAPnen V. (amp 2010)
    3. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (Mol. Psychiatry 2009)
    4. Identification of N-linked glycoproteins in human saliva by glycoprotein capture and mass spectrometry. (PubMed id 16740002)1, 2 Ramachandran P....Loo J.A. (J. Proteome Res. 2006)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (Nature 2001)
    7. Identification and characterization of cystatin-related epididymal spermatogenic protein in human spermatozoa: localization in the equatorial segment. (PubMed id 12193387)1, 9 Wassler M....Cornwall G.A. (Biol. Reprod. 2002)
    8. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (Genomics 2007)
    9. Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study. (PubMed id 17903301)4 Vasan R.S....Benjamin E.J. (BMC Med. Genet. 2007)
    10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
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    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 10047 HGNC: 2480 AceView: CST8 Ensembl:ENSG00000125815 euGenes: HUgn10047
    ECgene: CST8 H-InvDB: CST8

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for CST8 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for CST8 gene:
    Search GeneIP for patents involving CST8

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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