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Gene id |
9568 |
| Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed |
Gene Summary
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Gene Symbol |
GABBR2 Gene UCSC Ensembl |
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Aliases |
EIEE59, GABABR2, GPR51, GPRC3B, HG20, HRIHFB2099, NDPLHS |
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Gene name |
gamma-aminobutyric acid type B receptor subunit 2 |
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Alternate names |
gamma-aminobutyric acid type B receptor subunit 2, G-protein coupled receptor 51, GABA-B receptor 2, GABA-B receptor, R2 subunit, GABA-B-R2, GABA-BR2, gamma-aminobutyric acid (GABA) B receptor, 2, gamma-aminobutyric acid B receptor 2, gb2, |
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Gene location |
9q22.33 (98708934: 98288103) Exons: 22 NC_000087.7
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Gene summary(Entrez) |
The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-coupled second-messenger systems, which regulate the re
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OMIM |
607340 |
Protein Summary
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| GO accession | Term name | Evidence code | Go category |
|---|
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| Associated diseases |
References |
| Cleft defects | GAD: 18978678 |
| Hyperparathyroidism | GAD: 20424473 |
| Asthma | GAD: 11022011 |
| Obesity | GAD: 20734064 |
| Epilepsy | GAD: 18653317 |
| Parkinson disease | GAD: 16252231 |
| Psychological disorders | GAD: 19086053 |
| Bipolar disorder | GAD: 19308021 |
| May play a role in GABA triggering of acrosome reaction | MIK: 14967916 |
| Early infantile epileptic encephalopathy | KEGG: H00606 |
| Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
| Cryptorchidism | MIK: 28606200 |
| Spermatogenic defects | MIK: 14967916 |
| Teratozoospermia | MIK: 17327269 |
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| PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
| 14967916 |
May play a
role in G
ABA trigge
ring of ac
rosome rea
ction
|
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|
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Male infertility |
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Show abstract |
| 17327269 |
Teratozoos
permia
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13 (5 controls,
8 cases)
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Male infertility |
GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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Show abstract |
| 21674046 |
Aberrant C
pGs in Low
Motility
Sperm
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|
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18
|
Male infertility |
GSE26881
|
Show abstract |
| 28606200 |
Cryptorchi
dism
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Monozgotic twin
s (1 control, I
cwith cryptorc
hidism)
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Male infertility |
MeDIP-Seq
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Show abstract |
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