Cst6 cystatin E/M [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Cst6provided by MGI
Official Full Name: cystatin E/Mprovided by MGI
Primary source: MGI:MGI:1920970
See related: Ensembl:ENSMUSG00000024846 AllianceGenome:MGI:1920970
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: ichq; 1110017E11Rik
Summary: Acts upstream of or within epidermis development. Located in cornified envelope. Is expressed in several structures, including alimentary system; placenta; respiratory system; sensory organ; and skin. Used to study autosomal recessive congenital ichthyosis 4B. Human ortholog(s) of this gene implicated in ectodermal dysplasia 15. Orthologous to human CST6 (cystatin E/M). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in duodenum adult (RPKM 37.6), stomach adult (RPKM 24.5) and 4 other tissues See more
Orthologs: human all
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Genomic context

Location:: 19 A; 19 4.3 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	19	NC_000085.7 (5394733..5399602, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	19	NC_000085.6 (5344705..5349574, complement)

Chromosome 19 - NC_000085.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Using quenched activity-based probes, we identified mouse cathepsin B (CtsB), which is expressed in the lower regions of the hair follicle, as an additional target of mouse Cst6
Title: Cathepsin B as a potential cystatin M/E target in the mouse hair follicle.
conclude that a tightly regulated balance between cathepsin L and cystatin M/E is essential for tissue integrity in epidermis, hair follicles, and corneal epithelium
Title: The cystatin M/E-cathepsin L balance is essential for tissue homeostasis in epidermis, hair follicles, and cornea.
cystatin M/E has a role in skin barrier formation and a potential role as a tumor suppressor gene [review]
Title: The biology of cystatin M/E and its cognate target proteases.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Spontaneous (1) 1 citation
Endonuclease-mediated (1)

General gene information

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Markers

Cst6 (e-PCR), detects polymorphism
- UniSTS:528218

N28197 (e-PCR)
- UniSTS:186330

Gene Ontology Provided by MGI

Process	Evidence Code	Pubs
acts_upstream_of_or_within epidermis development	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cornified envelope	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: cystatin-M

Names: cystatin M; harlequin ichthyosis; harlequin ichthysosis

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.