CST3 (cystatin C)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 1471
Gene name Cystatin C
Gene symbol CST3
Synonyms (NCBI Gene)
ADLDWAARMD11HEL-S-2
Chromosome 20
Chromosome location 20p11.21
Summary 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.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (2)
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.
163
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (163)
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (35)
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604312 2475 ENSG00000101439
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary cerebral amyloid angiopathy, Icelandic type Pathogenic rs28939068 RCV000005988
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Age related macular degeneration 11 Benign; Likely benign rs1064039 RCV000005989
CST3-related Leukodystrophy Uncertain significance; Conflicting classifications of pathogenicity rs34930898, rs2515343263, rs1600363764 RCV003324018
RCV003326227
RCV003323779
Hepatocellular carcinoma Uncertain significance rs34930898 RCV005869780
Leukodystrophy, adult-onset, autosomal dominant, without amyloid angiopathy Uncertain significance; Conflicting classifications of pathogenicity rs34930898, rs2515343263, rs1600363764 RCV005416223
RCV005416226
RCV005416216
Show/Hide Text Mining Associations (160)
Associations from Text MiningDisease 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