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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ARMD11
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 IDA 3488317, 6203523, 7890620, 8999869
GO:0005515 Function Protein binding IPI 15127951, 17462596, 32814053
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Age-related macular degeneration Age-Related Macular Degeneration type 11, Age related macular degeneration rs199474657, rs61750120, rs1800728, rs62654397, rs61749423, rs61751412, rs61749439, rs61751398, rs61752417, rs62645946, rs1801269, rs62646860, rs61750142, rs61750145, rs61750152
View all (20 more)
11815350, 2764935, 19838169
Alzheimer disease Familial Alzheimer Disease (FAD), Alzheimer Disease, Late Onset, Alzheimer Disease, Early Onset, Alzheimer`s Disease, Alzheimer`s Disease, Focal Onset rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039
View all (65 more)
17192785, 18026100
Cerebral amyloid angiopathy Familial Cerebral Amyloid Angiopathy, Cerebral Amyloid Angiopathy, Cerebral Amyloid Angiopathy, Hereditary, Cerebral Amyloid Angiopathy, Genetic rs104894417, rs63750579, rs63750264, rs63750066, rs63750921, rs80356710, rs80356711, rs398122414, rs1555782101 18566660
Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis, Familial rs267607084, rs312262720, rs312262752, rs121908287, rs121908288, rs29001584, rs28941475, rs121434378, rs386134173, rs386134174, rs80356730, rs80356727, rs4884357, rs80356717, rs80356733
View all (171 more)
11796754
Unknown
Disease term Disease name Evidence References Source
Coronary syndrome Acute Coronary Syndrome 24952865 ClinVar
Microcystic meningioma Microcystic meningioma 19747051 ClinVar
Kidney Disease Kidney Disease GWAS
Associations from Text Mining
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