|
Gene id |
1471 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
|
|
Gene Symbol |
CST3 Gene UCSC Ensembl |
|
Aliases |
ARMD11, HEL-S-2 |
|
Gene name |
cystatin C |
|
Alternate names |
cystatin-C, bA218C14.4 (cystatin C), cystatin 3, epididymis secretory protein Li 2, gamma-trace, neuroendocrine basic polypeptide, post-gamma-globulin, |
|
Gene location |
20p11.21 (23637954: 23626705) Exons: 4 NC_000020.11
|
|
Gene summary(Entrez) |
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
|
|
OMIM |
604312 |
Protein Summary
|
|
| GO accession | Term name | Evidence code | Go category |
|---|
|
|
| Pathway id | Pathway name |
|---|
| hsa04970 | Salivary secretion | |
|
| Associated diseases |
References |
| Cardiovascular disease | GAD: 17903292 |
| Myocardial Infarction | GAD: 15882666 |
| Cerebral amyloid angiopathy (CAA) | KEGG: H01185 |
| Macular degeneration | GAD: 11815350 |
| Age-related macular degeneration | KEGG: H00821 |
| Frontotemporal lobar degeneration | GAD: 19674067 |
| Amyotrophic lateral sclerosis (ALS) | GAD: 16443201 |
| Alzheimer's disease | GAD: 16608402 |
| Cognitive function | GAD: 16213753 |
| Dementia | GAD: 19920316 |
| Polycystic ovary syndrome (PCOS) | INFBASE: 26740281 |
| Cryptorchidism | MIK: 28606200 |
| Human sperm capacitation and acrosome reaction | MIK: 29378615 |
| Male infertility | MIK: 24500719 |
|
|
| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 29378615 |
Human sper
m capacita
tion and a
crosome re
action, Ma
le inferti
lity
|
|
|
|
Male infertility |
|
Show abstract |
| 24500719 |
Male infer
tility
|
L68Q |
|
|
Male infertility |
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
|
Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
|