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    CST8 cystatin 8 [ Homo sapiens (human) ]

    Gene ID: 10047, updated on 27-Dec-2024

    Summary

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    Official Symbol
    CST8provided by HGNC
    Official Full Name
    cystatin 8provided by HGNC
    Primary source
    HGNC:HGNC:2480
    See related
    Ensembl:ENSG00000125815 MIM:608683; AllianceGenome:HGNC:2480
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CRES; CTES5
    Summary
    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]
    Expression
    Restricted expression toward testis (RPKM 2.7) See more
    Orthologs
    mouse all
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    Genomic context

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    See CST8 in Genome Data Viewer
    Location:
    20p11.21
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (23491117..23507124)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (23550642..23566685)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (23471754..23476647)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene cystatin like 1 Neighboring gene cystatin 11 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr20:23453588-23454206 Neighboring gene Sharpr-MPRA regulatory region 1881 Neighboring gene cystatin 12, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23471218-23471718 Neighboring gene cystatin 13, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17642 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr20:23513598-23514559 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23515257-23515934 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:23515935-23516610 Neighboring gene cystatin 9-like pseudogene 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Identification and characterization of cystatin-related epididymal spermatogenic protein in human spermatozoa: localization in the equatorial segment. Wassler M, et al. Biol Reprod, 2002 Sep. PMID 12193387
    2. Structure, alternative splicing and chromosomal localization of the cystatin-related epididymal spermatogenic gene. Cornwall GA, et al. Biochem J, 1999 May 15. PMID 10229662, Free PMC Article
    3. Genomic cloning, physical mapping, and expression of human type 2 cystatin genes. Dickinson DP, et al. Crit Rev Oral Biol Med, 1993. PMID 7690606
    4. Evolution and human tissue expression of the Cres/Testatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cystatins. Frygelius J, et al. Evol Dev, 2010 May-Jun. PMID 20565543
    5. Direct mapping of seven genes encoding human type 2 cystatins to a single site located at 20p11.2. Dickinson DP, et al. Genomics, 1994 Nov 1. PMID 7896273

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. We show with phylogenetic relations that the CTES genes are clustered into three original groups, a testatin, a Cres, and a CstL1 group
      Title: Evolution and human tissue expression of the Cres/Testatin subgroup genes, a reproductive tissue specific subgroup of the type 2 cystatins.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.
    3. studies show that cystatin-related epididymal spermatogenic protein is present in the sperm equatorial segment and becomes accessible to the extracellular environment during fertilization
      Title: Identification and characterization of cystatin-related epididymal spermatogenic protein in human spermatozoa: localization in the equatorial segment.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cysteine-type endopeptidase inhibitor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cell surface IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in extracellular region IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    cystatin-8
    Names
    cystatin 8 (cystatin-related epididymal specific)
    cystatin-related epididymal spermatogenic protein
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001281730.2 → NP_001268659.1  cystatin-8 precursor

      See identical proteins and their annotated locations for NP_001268659.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA436982, AL109954, AW665128, BX096109
      Consensus CDS
      CCDS13156.1
      UniProtKB/Swiss-Prot
      O60676, Q2M2X6
      UniProtKB/TrEMBL
      A0A384MDQ4, A2A2N0
      Related
      ENSP00000399144.1, ENST00000449810.5
      Conserved Domains (1) summary
      smart00043
      Location:35 → 140
      CY; Cystatin-like domain

    2. NM_005492.4 → NP_005483.1  cystatin-8 precursor

      See identical proteins and their annotated locations for NP_005483.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AA436982, AF059244, AL109954, AW665128
      Consensus CDS
      CCDS13156.1
      UniProtKB/Swiss-Prot
      O60676, Q2M2X6
      UniProtKB/TrEMBL
      A0A384MDQ4, A2A2N0
      Related
      ENSP00000246012.1, ENST00000246012.2
      Conserved Domains (1) summary
      smart00043
      Location:35 → 140
      CY; Cystatin-like domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

      Range
      23491117..23507124
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047439816.1 → XP_047295772.1  cystatin-8 isoform X1

      UniProtKB/Swiss-Prot
      O60676, Q2M2X6
      UniProtKB/TrEMBL
      A0A384MDQ4, A2A2N0

    2. XM_047439815.1 → XP_047295771.1  cystatin-8 isoform X1

      UniProtKB/Swiss-Prot
      O60676, Q2M2X6
      UniProtKB/TrEMBL
      A0A384MDQ4, A2A2N0

    3. XM_047439817.1 → XP_047295773.1  cystatin-8 isoform X1

      UniProtKB/Swiss-Prot
      O60676, Q2M2X6
      UniProtKB/TrEMBL
      A0A384MDQ4, A2A2N0

    4. XM_047439820.1 → XP_047295776.1  cystatin-8 isoform X1

      UniProtKB/Swiss-Prot
      O60676, Q2M2X6
      UniProtKB/TrEMBL
      A0A384MDQ4, A2A2N0

    5. XM_047439818.1 → XP_047295774.1  cystatin-8 isoform X1

      UniProtKB/Swiss-Prot
      O60676, Q2M2X6
      UniProtKB/TrEMBL
      A0A384MDQ4, A2A2N0

    6. XM_047439819.1 → XP_047295775.1  cystatin-8 isoform X1

      UniProtKB/Swiss-Prot
      O60676, Q2M2X6
      UniProtKB/TrEMBL
      A0A384MDQ4, A2A2N0

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060944.1 Alternate T2T-CHM13v2.0

      Range
      23550642..23566685
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054322816.1 → XP_054178791.1  cystatin-8 isoform X1

      UniProtKB/Swiss-Prot
      O60676, Q2M2X6
      UniProtKB/TrEMBL
      A0A384MDQ4, A2A2N0

    2. XM_054322819.1 → XP_054178794.1  cystatin-8 isoform X1

      UniProtKB/Swiss-Prot
      O60676, Q2M2X6
      UniProtKB/TrEMBL
      A0A384MDQ4, A2A2N0

    3. XM_054322815.1 → XP_054178790.1  cystatin-8 isoform X1

      UniProtKB/Swiss-Prot
      O60676, Q2M2X6
      UniProtKB/TrEMBL
      A0A384MDQ4, A2A2N0

    4. XM_054322817.1 → XP_054178792.1  cystatin-8 isoform X1

      UniProtKB/Swiss-Prot
      O60676, Q2M2X6
      UniProtKB/TrEMBL
      A0A384MDQ4, A2A2N0

    5. XM_054322818.1 → XP_054178793.1  cystatin-8 isoform X1

      UniProtKB/Swiss-Prot
      O60676, Q2M2X6
      UniProtKB/TrEMBL
      A0A384MDQ4, A2A2N0
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O60676.1 GenPept UniProtKB/Swiss-Prot:O60676

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