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; chr11:65779462-65780976 (+)  GRCh37.p10

Alleles and phenotypes

All alleles(5) : Targeted(3) Gene trapped(1) Spontaneous(1)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (5 annotations)

Process	epidermis development, negative regulation of peptidase activity
Component	cornified envelope
Function	cysteine-type endopeptidase inhibitor activity, peptidase inhibitor activity

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (45)    Tissues (37)   
Theiler Stages: 18, 20, 21, 22, 23, 24, 25, 26, 28

Assay Type	Results
Immunohistochemistry	12
RT-PCR	33

cDNA source data(24)
External Resources: Allen Institute   GEO   ArrayExpress

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 Knockout Project Status	Cst6

Sequences

Length	Strain/Species
genomic	73720	NCBI Gene Model | MGI Sequence Detail	4870	C57BL/6J
transcript	NM_028623	RefSeq | MGI Sequence Detail	3951	C57BL/6
polypeptide	NP_082899	RefSeq | MGI Sequence Detail	149	C57BL/6

All sequences(19) RefSeq(2) UniProt(2)

Polymorphisms

SNPs(25 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42
All references(32)

Other accession IDs

MGI:1194512, MGI:2147809