GLRA2_HUMAN
Evidence for PS localization
Functions
Glycine receptors are ligand-gated chloride channels. Channel opening is triggered by extracellular glycine (PubMed, PubMed, PubMed, PubMed, PubMed). Channel opening is also triggered by taurine and beta-alanine (PubMed). Plays a role in the down-regulation of neuronal excitability. Contributes to the generation of inhibitory postsynaptic currents (PubMed). Plays a role in cellular responses to ethanol (PubMed). [View more on UniProt]
Protein features
Binary interactions with known binding regions
Interacting region for partners were not defined.
Network
Isoforms
Disease-causing germline mutations
| Position | Amino acid | Mutation | Disease | Overlap with binding region |
|---|---|---|---|---|
| 136 | Asn | Ser | Intellectualdevelopmentaldisorder,X-linked,syndromic,Pilorgetype(MRXSP) | - |
| 153 | Arg | Gln | Intellectualdevelopmentaldisorder,X-linked,syndromic,Pilorgetype(MRXSP) | - |
| 296 | Thr | Met | Intellectualdevelopmentaldisorder,X-linked,syndromic,Pilorgetype(MRXSP) | - |
| 350 | Arg | Leu | Intellectualdevelopmentaldisorder,X-linked,syndromic,Pilorgetype(MRXSP) | - |
Linear motifs
No annotated instance was found. To search for linear motifs, use the ELM prediction server.
Fingerprint
Molecular function
| Term | Name | % | Distance from the top of the tree | Annotated in GLRA2_HUMAN |
|---|---|---|---|---|
| GO:0030695 | GTPase regulator activity | 60.0000 | 4 | no |
| GO:0043169 | cation binding | 40.0000 | 4 | yes |
| GO:0046872 | metal ion binding | 40.0000 | 5 | yes |
| GO:0005096 | GTPase activator activity | 40.0000 | 4 | no |
Biological process
| Term | Name | % | Distance from top the of the tree | Annotated in GLRA2_HUMAN |
|---|---|---|---|---|
| GO:0008104 | protein localization | 60.0000 | 4 | no |
| GO:0015031 | protein transport | 40.0000 | 4 | no |
| GO:0071702 | organic substance transport | 40.0000 | 4 | no |
| GO:0071705 | nitrogen compound transport | 40.0000 | 4 | no |
| GO:0072657 | protein localization to membrane | 40.0000 | 4 | no |
| GO:0048523 | negative regulation of cellular process | 40.0000 | 4 | no |
Disease
No data found.
All partners
| Uniprot ID | Details | Highest evidence | Localizing into PSD | HPA (protein expression in neurons) |
|---|---|---|---|---|
| GDIB_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| SC23A_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| DDX24_HUMAN | [view interactions] | High throughput | no | yes |
| BAG6_HUMAN | [view entry] [view interactions] | High throughput | yes | yes |
| PSD1_HUMAN | [view entry] [view interactions] | High throughput | yes | no |
| TRFE_HUMAN | [view interactions] | High throughput | no | no |
| BLK_HUMAN | [view interactions] | High throughput | no | no |
| TM87A_HUMAN | [view interactions] | High throughput | no | yes |
| COPG1_HUMAN | [view interactions] | High throughput | no | yes |
| PKD2_HUMAN | [view interactions] | High throughput | no | yes |
| SCAP_HUMAN | [view interactions] | High throughput | no | yes |
| SGCB_HUMAN | [view interactions] | High throughput | no | no |
| UBR3_HUMAN | [view interactions] | High throughput | no | yes |
| CNNM1_HUMAN | [view interactions] | High throughput | no | yes |
| NUP35_HUMAN | [view interactions] | High throughput | no | yes |
| SYVN1_HUMAN | [view interactions] | High throughput | no | yes |
| S39A6_HUMAN | [view interactions] | High throughput | no | yes |
| EXTL3_HUMAN | [view interactions] | High throughput | no | yes |
| KCD17_HUMAN | [view interactions] | High throughput | no | yes |
| RUSF1_HUMAN | [view interactions] | High throughput | no | yes |
| BSCL2_HUMAN | [view interactions] | High throughput | no | yes |
| PACC1_HUMAN | [view interactions] | High throughput | no | no |
| FAM3C_HUMAN | [view interactions] | High throughput | no | yes |
| MARH6_HUMAN | [view interactions] | High throughput | no | yes |
| LRP12_HUMAN | [view interactions] | High throughput | no | yes |
| PIGU_HUMAN | [view interactions] | High throughput | no | no |
| KCTD2_HUMAN | [view interactions] | High throughput | no | no |
| LCAP_HUMAN | [view interactions] | High throughput | no | yes |
| AMFR_HUMAN | [view interactions] | High throughput | no | yes |
| RUFY1_HUMAN | [view interactions] | High throughput | no | yes |