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

Gene ID: 1474, updated on 10-Oct-2023

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
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Genomic context

See CST6 in Genome Data Viewer
Location:
11q13.1
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (66012008..66013505)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (66006130..66007628)
105.20220307 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 BAF 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
  • 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)

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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_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_2023_10

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)