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FLASH GENE

Symbol

CST6

contributors: mct/np - updated : 05-11-2007

HGNC name	cystatin E/M
HGNC id	2478

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 3 - 627 16.5 149 - Rivenbark (2007)

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart         Digestive liver       highly Endocrine thyroid         Lymphoid/Immune lymph node         Reproductive female system placenta     highly   female system breast

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining retinal pigment epithelium (RPE)

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte Visual epithelial cell

cell lineage
cell lines
fluid/secretion	found at high levels in saliva, tears, seminal plasma

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

GlycoP

HOMOLOGY

Homologene

FAMILY	cystatin superfamily
	type 2 cystatin family

CATEGORY

enzyme , secretory

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,organelle,lysosome

basic FUNCTION	cysteine proteinase inhibitor acting as an acyl acceptor but not as an acyl donor
	playing a role in the modulation of genes, particularly, genes that are highly relevant to breast cancer progression
	cervical cancer suppressor gene (Veena 2008)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	inhibited by CST3 in retinal pigment epithelium
	substrate for transglutaminases

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral         in metastatic mamary epithelial tumors cells tumoral     --low   in cervical cancer (promoter is silenced by hypermethylation and/or histone deacetylation) (Veena 2008) tumoral     --low   by hypermethylation in renal cell carcinoma (Morris 2010)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS