CST6 (cystatin E/M)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 1474
Gene name Cystatin E/M
Gene symbol CST6
Synonyms (NCBI Gene)
ECTD15
Chromosome 11
Chromosome location 11q13.1
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
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1590674994 C>T Pathogenic Coding sequence variant, stop gained
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (4)
miRTarBase ID miRNA Experiments Reference
MIRT018413 hsa-miR-335-5p Microarray 18185580
MIRT2386543 hsa-miR-1249 CLIP-seq
MIRT2386544 hsa-miR-4652-5p CLIP-seq
MIRT2386545 hsa-miR-542-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001533 Component Cornified envelope IEA
GO:0004869 Function Cysteine-type endopeptidase inhibitor activity IEA
GO:0004869 Function Cysteine-type endopeptidase inhibitor activity TAS 8995380
GO:0005515 Function Protein binding IPI 25630877, 32296183
GO:0005576 Component Extracellular region IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601891 2478 ENSG00000175315
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15828
Protein name Cystatin-M (Cystatin-6) (Cystatin-E)
Protein function High affinity inhibitor for cathepsin L, cathepsin L2 (cathepsin V), and legumain (PubMed:30425301). Involved in the regulation of epidermal cornification, and hair follicle morphogenesis and maintenance (PubMed:30425301). {ECO:0000269|PubMed:30
PDB 4N6L , 4N6M , 4N6N , 4N6O , 6FK0
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00031 Cystatin 36 → 135 Cystatin domain Domain
Tissue specificity TISSUE SPECIFICITY: Restricted to the stratum granulosum of normal skin, the stratum granulosum/spinosum of psoriatic skin, and the secretory coils of eccrine sweat glands. Low expression levels are found in the nasal cavity. {ECO:0000269|PubMed:11348457}
Sequence
Sequence length 149
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Ectodermal dysplasia 15, hypohidrotic/hair type Pathogenic rs1590674994 RCV000824677
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CST6-related disorder Benign rs200759724 RCV003924182
Show/Hide Text Mining Associations (36)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 24398667
Bites Human Inhibit 30425301
Blepharitis Associate 30425301
Bone Diseases Inhibit 35881476
Brain Neoplasms Inhibit 18607344
Breast Neoplasms Inhibit 17043665, 17540367, 19074894, 8995380
Breast Neoplasms Associate 18221536, 21092257, 21283676, 23088560, 24297604, 24742492
Calcinosis Cutis Inhibit 17540367
Carcinoma Hepatocellular Associate 31115549
Carcinoma Intraductal Noninfiltrating Associate 21092257