KIRREL3
Summary: The protein encoded by this gene is a member of the nephrin-like protein family. These proteins are expressed in fetal and adult brain, and also in podocytes of kidney glomeruli. The cytoplasmic domains of these proteins interact with the C-terminus of podocin, also expressed in the podocytes, cells involved in ensuring size- and charge-selective ultrafiltration. The protein encoded by this gene is a synaptic cell adhesion molecule with multiple extracellular immunoglobulin-like domains and a cytoplasmic PDZ domain-binding motif. Mutations in this gene are associated with several neurological and cognitive disorders. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:607761 Ensembl IDEnsembl:ENSG00000149571 HGNC IDHGNC:HGNC:23204 PHARMGKB IDPA134958283 Map Location11q24.2 | |||||
GO terms in KIRREL3
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0001764 | neuron migration |
| BP | IEA | GO:0002121 | inter-male aggressive behavior |
| BP | ISS | GO:0007156 | homophilic cell adhesion via plasma membrane adhesion molecules |
| BP | ISS | GO:0007416 | synapse assembly |
| BP | IEA | GO:0021740 | principal sensory nucleus of trigeminal nerve development |
| BP | ISS | GO:0021766 | hippocampus development |
Gene expression in normal tissue: KIRREL3
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in KIRREL3
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1500931 | Cell-Cell communication |
| reactome | R-HSA-373753 | Nephrin family interactions |
| wikipathways | WP2572 | Primary Focal Segmental Glomerulosclerosis FSGS |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD309 | 17AAG | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KIRREL3
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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