CST3 (cystatin C)

2003-08-01  

Identity

HGNC
LOCATION
20p11.21
LOCUSID
ALIAS
ARMD11,HEL-S-2
FUSION GENES

Other Information

Locus ID:

NCBI: 1471
MIM: 604312
HGNC: 2475
Ensembl: ENSG00000101439

Variants:

dbSNP: 1471
ClinVar: 1471
TCGA: ENSG00000101439
COSMIC: CST3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000101439ENST00000376925P01034
ENSG00000101439ENST00000376925A0A0K0K1J1
ENSG00000101439ENST00000398409P01034
ENSG00000101439ENST00000398409A0A0K0K1J1
ENSG00000101439ENST00000398411P01034
ENSG00000101439ENST00000398411A0A0K0K1J1

Expression (GTEx)

0
100
200
300
400
500
600
700

Pathways

PathwaySourceExternal ID
Salivary secretionKEGGko04970
Salivary secretionKEGGhsa04970
Metabolism of proteinsREACTOMER-HSA-392499
Amyloid fiber formationREACTOMER-HSA-977225
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
171927852007Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.609
150864832004Factors influencing serum cystatin C levels other than renal function and the impact on renal function measurement.213
191192872009Factors other than glomerular filtration rate affect serum cystatin C levels.152
205347412010Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals.108
226224962012Improved equations estimating GFR in children with chronic kidney disease using an immunonephelometric determination of cystatin C.103
180261002007Cystatin C inhibits amyloid-beta deposition in Alzheimer's disease mouse models.66
164815982006Identification of potential CSF biomarkers in ALS.64
180261022007Cystatin C modulates cerebral beta-amyloidosis.59
152128282004Binding of cystatin C to Alzheimer's amyloid beta inhibits in vitro amyloid fibril formation.46
150376572004Cystatin C antagonizes transforming growth factor beta signaling in normal and cancer cells.44

Citation

Dessen P

CST3 (cystatin C)

Atlas Genet Cytogenet Oncol Haematol. 2003-08-01

Online version: http://atlasgeneticsoncology.org/gene/40177/cst3