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Cst6
Gene Detail
 Symbol
Name
ID
Cst6
cystatin E/M
MGI:1920970
Feature Type protein coding gene
Genetic Map
Chromosome 19
4.30 cM, cytoband A
Detailed Genetic Map ± 1 cM


Mapping data(5)
Sequence Map
Chr19:5344705-5349574 bp, - strand
From NCBI annotation of GRCm38

  4870 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:1011  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

Gene Tree: Cst6

Human
homologs
Human Homolog CST6, cystatin E/M
NCBI Gene ID 1474
neXtProt AC  NX_Q15828
Human Chr (Location)  11q13; chr11:66011991-66013505 (+)  GRCh38
Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(1) Spontaneous(1) Targeted(3)
 
Mice homozygous for a spontaneous mutation show a hyperplastic, hyperkeratotic epidermis, abnormally large mitochondria, absent lamellar granules, excessive epidermal and hair follicle cornification, increased transepidermal water loss and postnatal death, probably due to dehydration.
 
Human Diseases Modeled Using Mouse Cst6 (1)    Alleles Annotated to Human Diseases(1)   
Interactions
Cst6 interacts with 257 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (6 annotations)
Process epidermis development, negative regulation of peptidase activity
Component cornified envelope, extracellular vesicular exosome
Function cysteine-type endopeptidase inhibitor activity, peptidase inhibitor activity
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (45)    Tissues (37)   
Theiler Stages: 18, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 12
RT-PCR 33
cDNA source data(24)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(25) cDNA(24) Primer pair(1)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000024846 (Evidence)
Entrez Gene73720 (Evidence)
UniGene36816
DFCITC1582381, TC1627091
DoTSDT.492267
NIA Mouse Gene IndexU019055
Consensus CDS ProjectCCDS29457.1
International Mouse Knockout Project StatusCst6
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 73720 NCBI Gene Model | MGI Sequence Detail 4870 C57BL/6J ±  kb
transcript NM_028623 RefSeq | MGI Sequence Detail 3951 C57BL/6 
polypeptide NP_082899 RefSeq | MGI Sequence Detail 149 C57BL/6 

For the selected sequences
All sequences(19) RefSeq(2) UniProt(2)
Polymorphisms SNPs within 2kb(36 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR027214 Cystatin
InterPro IPR000010 Proteinase inhibitor I25, cystatin
InterPro IPR020381 Proteinase inhibitor I25, cystatin, conserved region
Protein Ontology PR:000005968 cystatin-M
References (Earliest) J:41426 Sundberg JP, et al., Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis. Am J Pathol. 1997 Jul;151(1):293-310
(Latest) J:206321 Veniaminova NA, et al., Keratin 79 identifies a novel population of migratory epithelial cells that initiates hair canal morphogenesis and regeneration. Development. 2013 Dec;140(24):4870-80
All references(34)
Disease annotation references (2)
Other
accession IDs
MGI:1194512, MGI:2147809

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
08/12/2014
MGI 5.19
The Jackson Laboratory