| 628799 | Cst6 | cystatin E/M | ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (inferred); peptidase inhibitor activity (inferred); INVOLVED IN epidermis development (ortholog); ASSOCIATED WITH autosomal recessive congenital ichthyosis 4B (ortholog); Breast Neoplasms (ortholog); ectodermal dysplasia 15 (ortholog); FOUND IN cornified envelope (ortholog); INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 3-chloropropane-1,2-diol; 6-propyl-2-thiouracil | 1 | 212084676 | 212086384 | Rat | 123 | symbol , PhenoGen | gene, protein-coding, PROVISIONAL [RefSeq] |
| 733622 | Cst6 | cystatin E/M | Acts upstream of or within epidermis development. Located in cornified envelope. Is expressed in several structures, including alimentary system; placenta; respiratory system; sensory organ; and skin. Used to study autosomal recessive congenital ichthyosis 4B. Human ortholog(s) of this gene implicat ed in ectodermal dysplasia 15. Orthologous to human CST6 (cystatin E/M). [provided by Alliance of Genome Resources, Jul 2025] | 19 | 5394733 | 5399602 | Mouse | 155 | symbol , PhenoGen , description | gene, protein-coding, VALIDATED [RefSeq] |
| 1352727 | CST6 | cystatin E/M | 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 families in the superfamily, including the t ype 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. This gene encodes a cystatin from the type 2 family, which is down-regulated in metastatic breast tumor cells as compared to primary tumor cells. Loss of expression is likely associated with the progression of a primary tumor to a metastatic phenotype. [provided by RefSeq, Jul 2008] | 11 | 66012008 | 66013505 | Human | 137 | symbol , COSMIC , Human Proteome Map | gene, protein-coding, REVIEWED [RefSeq] |
| 8836421 | Cst6 | cystatin E/M | INVOLVED IN epidermis development (ortholog); ASSOCIATED WITH autosomal recessive congenital ichthyosis 4B (ortholog); Breast Neoplasms (ortholog); ectodermal dysplasia 15 (ortholog); FOUND IN cornified envelope (ortholog) | NW_004955422 | 19326302 | 19327449 | Chinchilla | 11 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 11751375 | CST6 | cystatin E/M | ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (inferred); peptidase inhibitor activity (inferred); INVOLVED IN epidermis development (ortholog); ASSOCIATED WITH autosomal recessive congenital ichthyosis 4B (ortholog); Breast Neoplasms (ortholog); ectodermal dysplasia 15 (ortholog); FOUND IN cornified envelope (inferred); extracellular exosome (inferred); extracellular region (inferred) | 11 | 61375744 | 61377909 | Bonobo | 16 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12425505 | CST6 | cystatin E/M | ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (inferred); peptidase inhibitor activity (inferred); INVOLVED IN epidermis development (ortholog); ASSOCIATED WITH autosomal recessive congenital ichthyosis 4B (ortholog); Breast Neoplasms (ortholog); ectodermal dysplasia 15 (ortholog); FOUND IN cornified envelope (inferred); extracellular region (inferred) | 18 | 51263161 | 51264816 | Dog | 15 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 12625363 | Cst6 | cystatin E/M | ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (inferred); peptidase inhibitor activity (inferred); INVOLVED IN epidermis development (ortholog); ASSOCIATED WITH autosomal recessive congenital ichthyosis 4B (ortholog); Breast Neoplasms (ortholog); ectodermal dysplasia 15 (ortholog); FOUND IN cornified envelope (inferred); extracellular exosome (inferred); extracellular region (inferred) | NW_004936599 | 3541359 | 3543206 | Squirrel | 16 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 25825269 | CST6 | | | | | | Yeast | | symbol | gene, null |
| 14242569 | CST6 | cystatin E/M | ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (inferred); peptidase inhibitor activity (inferred); INVOLVED IN epidermis development (ortholog); ASSOCIATED WITH autosomal recessive congenital ichthyosis 4B (ortholog); Breast Neoplasms (ortholog); ectodermal dysplasia 15 (ortholog); FOUND IN cornified envelope (inferred); extracellular region (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 16 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 626072618 | Cst6 | cystatin E/M | INVOLVED IN epidermis development (ortholog); ASSOCIATED WITH autosomal recessive congenital ichthyosis 4B (ortholog); Breast Neoplasms (ortholog); ectodermal dysplasia 15 (ortholog); FOUND IN cornified envelope (ortholog) | | | | Black Rat | 11 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18753157 | CST6 | cystatin E/M | ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (inferred); peptidase inhibitor activity (inferred); INVOLVED IN epidermis development (ortholog); ASSOCIATED WITH autosomal recessive congenital ichthyosis 4B (ortholog); Breast Neoplasms (ortholog); ectodermal dysplasia 15 (ortholog); FOUND IN cornified envelope (inferred); extracellular exosome (inferred); extracellular region (inferred) | | | | Green Monkey | 16 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 18918038 | Cst6 | cystatin E/M | ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (inferred); peptidase inhibitor activity (inferred); INVOLVED IN epidermis development (ortholog); ASSOCIATED WITH autosomal recessive congenital ichthyosis 4B (ortholog); Breast Neoplasms (ortholog); ectodermal dysplasia 15 (ortholog); FOUND IN cornified envelope (inferred); extracellular exosome (inferred); extracellular region (inferred) | | | | Naked Mole-Rat | 16 | symbol | gene, protein-coding, MODEL [RefSeq] |
| 735434 | CSTB | cystatin B | 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 families in the superfamily, including the t ype 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016] | 21 | 43773950 | 43776308 | Human | 379 | old_gene_symbol | gene, protein-coding, REVIEWED [RefSeq] |
| 13916290 | CSTB | cystatin B | ENCODES a protein that exhibits cysteine-type endopeptidase inhibitor activity (inferred); endopeptidase inhibitor activity (inferred); peptidase inhibitor activity (inferred); INVOLVED IN adult locomotory behavior (ortholog); ASSOCIATED WITH benign epilepsy with centrotemporal spikes (ortholog); Dy skinesias (ortholog); dystonia (ortholog); FOUND IN cytoplasm (inferred); cytosol (inferred); extracellular space (inferred); INTERACTS WITH deoxynivalenol | | | | Pig | 40 | old_gene_symbol | gene, protein-coding, PROVISIONAL [RefSeq] |
