Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1471
Gene name Gene Name - the full gene name approved by the HGNC.
Cystatin C
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CST3
Synonyms (NCBI Gene) Gene synonyms aliases
ADLDWA, ARMD11, HEL-S-2
Chromosome Chromosome number
20
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
20p11.21
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.
SNP ID Visualize variation Clinical significance Consequence
rs1064039 C>G,T Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs28939068 A>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT019152 hsa-miR-335-5p Microarray 18185580
MIRT030271 hsa-miR-26b-5p Microarray 19088304
MIRT618226 hsa-miR-7110-3p HITS-CLIP 23824327
MIRT618225 hsa-miR-6817-3p HITS-CLIP 23824327
MIRT618224 hsa-miR-130b-5p HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding IPI 18026102
GO:0002020 Function Protease binding IPI 6203523, 7890620
GO:0004866 Function Endopeptidase inhibitor activity IDA 15127951
GO:0004869 Function Cysteine-type endopeptidase inhibitor activity IBA
GO:0004869 Function Cysteine-type endopeptidase inhibitor activity IDA 3488317, 6203523, 7890620, 8999869
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604312 2475 ENSG00000101439
Protein
UniProt ID P01034
Protein name Cystatin-C (Cystatin-3) (Gamma-trace) (Neuroendocrine basic polypeptide) (Post-gamma-globulin)
Protein function As an inhibitor of cysteine proteinases, this protein is thought to serve an important physiological role as a local regulator of this enzyme activity.
PDB 1G96 , 1R4C , 1TIJ , 3GAX , 3NX0 , 3PS8 , 3QRD , 3S67 , 3SVA , 6ROA , 6RPV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00031 Cystatin 37 132 Cystatin domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in submandibular and sublingual saliva but not in parotid saliva (at protein level). Expressed in various body fluids, such as the cerebrospinal fluid and plasma. Expressed in highest levels in the epididymis, vas deferens, b
Sequence
Sequence length 146
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Salivary secretion   Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
Neutrophil degranulation
Post-translational protein phosphorylation
Amyloid fiber formation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Hereditary Cerebral Amyloid Angiopathy hereditary cerebral amyloid angiopathy, icelandic type rs28939068 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Kidney Disease Chronic kidney disease N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 28487367, 28554490, 3322021, 3495457, 8108423, 8576118, 8579098
Acute Kidney Injury Associate 20522534, 20827258, 24409073, 25944130, 28640195, 35891358, 36565177
Acute Kidney Injury Stimulate 20538834, 22418979, 23317940
Acute On Chronic Liver Failure Associate 24409073
Adenocarcinoma Associate 37002266
Alzheimer Disease Associate 11549598, 12016588, 12787072, 19917302, 23735279, 25893795, 26409164, 26845025, 27845782, 28554490, 29046353, 34551193, 36899848
Alzheimer Disease Stimulate 15907478, 34551193
Alzheimer Disease Inhibit 18824671, 19584436
Amyloid angiopathy Associate 15028721
Amyloidosis Associate 2541223, 29455155, 3495457, 3517880, 3707586