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CST8 cystatin 8 [ Homo sapiens (human) ]

Gene ID: 10047, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (23491117..23507124)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (23550642..23566685)
105.20220307 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: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 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)

Genotypes

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_2023_10

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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