Aliases for KIRREL3 Gene
External Ids for KIRREL3 Gene
Previous GeneCards Identifiers for KIRREL3 Gene
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]
GeneCards Summary for KIRREL3 Gene
KIRREL3 (Kirre Like Nephrin Family Adhesion Molecule 3) is a Protein Coding gene. Diseases associated with KIRREL3 include Autosomal Dominant Non-Syndromic Intellectual Disability and Autosomal Dominant Non-Syndromic Intellectual Disability 4. Among its related pathways are Primary Focal Segmental Glomerulosclerosis FSGS and Cell junction organization. An important paralog of this gene is KIRREL1.
UniProtKB/Swiss-Prot Summary for KIRREL3 Gene
Synaptic adhesion molecule required for the formation of target-specific synapses. Required for formation of target-specific synapses at hippocampal mossy fiber synapses. Required for formation of mossy fiber filopodia, the synaptic structures connecting dentate granule and GABA neurons. Probably acts as a homophilic adhesion molecule that promotes trans-cellular interactions and stabilize mossy fiber filipodia contact and subsequent synapse formation. Required for the coalescence of vomeronasal sensory neuron axons. May be involved in the hematopoietic supportive capacity of stroma cells; the secreted extracellular domain is directly responsible for supporting hematopoietic stem cells.