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 |
|---|---|---|---|---|---|
| kirre like nephrin family adhesion molecule 3 | MIM:607761 | Ensembl:ENSG00000149571 | HGNC:HGNC:23204 | PA134958283 | 11q24.2 |
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 |
| BP | ISS | GO:0030097 | hemopoiesis |
| BP | IEA | GO:0048812 | neuron projection morphogenesis |
| BP | IEA | GO:0072102 | glomerulus morphogenesis |
| CC | ISS | GO:0005576 | extracellular region |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | ISS | GO:0016021 | integral component of membrane |
| CC | ISS | GO:0030424 | axon |
| CC | ISS | GO:0030425 | dendrite |
| CC | IEA | GO:0043198 | dendritic shaft |
| MF | IPI | GO:0005515 | protein binding |
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 in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in KIRREL3
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.