CST6 (cystatin E/M)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1474
Gene name Gene Name - the full gene name approved by the HGNC.
Cystatin E/M
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CST6
Synonyms (NCBI Gene) Gene synonyms aliases
ECTD15
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(9)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
601891 2478 ENSG00000175315
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Ectodermal Dysplasia Ectodermal dysplasia 15, hypohidrotic/hair type rs1590674994 N/A
Show/Hide Text Mining Associations (36)
Associations from Text Mining Disease 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