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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

HCOP human homology predictions: CST6
Gene Tree: Cst6

Human
homologs
CST6, cystatin E/M
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 1474
neXtProt AC: NX_Q15828

Human Chr (Location): 11q13; chr11:66011991-66013505 (+)  GRCh38.p2

Mutations,
alleles, and
phenotypes
All mutations/alleles(5) : Gene trapped(1) Spontaneous(1) Targeted(3)
Incidental mutations (data from CvDC )
 
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 in Mice Using Cst6 (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Cst6 interacts with 256 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (3 annotations)
Process epidermis development
Component cornified envelope, extracellular exosome
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (45)    Tissues (37)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 12
RT-PCR 33
cDNA source data(24)
Other mouse links: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(25) cDNA(24) Primer pair(1)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000024846 (Evidence)
Entrez Gene 73720 (Evidence)
UniGene 36816
DFCI TC1582381, TC1627091
DoTS DT.492267
NIA Mouse Gene Index U019055
Consensus CDS Project CCDS29457.1
International Mouse Phenotyping Consortium Status Cst6
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(32)
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
06/30/2015
MGI 5.22
The Jackson Laboratory