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    CST6 cystatin E/M [ Homo sapiens (human) ]

    Gene ID: 1474, updated on 28-Oct-2024

    Summary

    Official Symbol
    CST6provided by HGNC
    Official Full Name
    cystatin E/Mprovided by HGNC
    Primary source
    HGNC:HGNC:2478
    See related
    Ensembl:ENSG00000175315 MIM:601891; AllianceGenome:HGNC:2478
    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
    ECTD15
    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, where they appear to provide protective functions. This gene encodes a cystatin from the type 2 family, which is down-regulated in metastatic breast tumor cells as compared to primary tumor cells. Loss of expression is likely associated with the progression of a primary tumor to a metastatic phenotype. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in skin (RPKM 70.4) and lung (RPKM 4.9) See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CST6 in Genome Data Viewer
    Location:
    11q13.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66012008..66013505)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66006130..66007628)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (65779479..65780976)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol-4,5-bisphosphate 4-phosphatase 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5024 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65767725-65768224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5025 Neighboring gene eukaryotic translation initiation factor 1A domain containing Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3569 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:65770703-65771509 Neighboring gene Sharpr-MPRA regulatory region 5067 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65775781-65776575 Neighboring gene barrier to autointegration nuclear assembly factor 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65780961-65781536 Neighboring gene cation channel sperm associated 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:65790121-65790622 Neighboring gene galactose-3-O-sulfotransferase 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3570 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5026

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Ectodermal dysplasia 15, hypohidrotic/hair type
    MedGen: C5193145 OMIM: 618535 GeneReviews: Not available
    not available

    EBI GWAS Catalog

    Description
    Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    Preferred Names
    cystatin-M
    Names
    cystatin 6
    cystatin M/E
    cystatin-E
    cysteine proteinase inhibitor

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001323.4NP_001314.1  cystatin-M precursor

      See identical proteins and their annotated locations for NP_001314.1

      Status: REVIEWED

      Source sequence(s)
      AA778147, AI127639, U81233
      Consensus CDS
      CCDS8126.1
      UniProtKB/Swiss-Prot
      Q15828, Q540N7
      UniProtKB/TrEMBL
      Q6IBD2
      Related
      ENSP00000311313.2, ENST00000312134.3
      Conserved Domains (1) summary
      smart00043
      Location:33147
      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      66012008..66013505
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      66006130..66007628
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)