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Gene id |
6263 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
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|
Gene Symbol |
RYR3 Gene UCSC Ensembl |
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Aliases |
RYR-3 |
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Gene name |
ryanodine receptor 3 |
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Alternate names |
ryanodine receptor 3, brain ryanodine receptor-calcium release channel, brain-type ryanodine receptor, type 3 ryanodine receptor, |
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Gene location |
15q13.3-q14 (33310772: 33866120) Exons: 107 NC_000020.11
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Gene summary(Entrez) |
The protein encoded by this gene is a ryanodine receptor, which functions to release calcium from intracellular storage for use in many cellular processes. For example, the encoded protein is involved in skeletal muscle contraction by releasing calcium fr
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|
OMIM |
180903 |
Protein Summary
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| GO accession | Term name | Evidence code | Go category |
|---|
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| Associated diseases |
References |
| Carotid artery diseases | GAD: 20009918 |
| Hyperparathyroidism | GAD: 20424473 |
| Autism | GAD: 18588595 |
| May compromise male fertility | MIK: 19234362 |
| Cryptorchidism | MIK: 28606200 |
| May compromise male fertility | MIK: 19234362 |
| Unexplained infertility | MIK: 25753583 |
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| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 19234362 |
May compro
mise male
fertility
|
|
|
|
Male infertility |
|
Show abstract |
| 28606200 |
Cryptorchi
dism
|
|
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Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
| 25753583 |
Unexplaine
d infertil
ity
|
|
|
46 (17 fertile
men, 29 male pa
tients)
|
Male infertility |
Microarray
|
Show abstract |
|