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KIRREL3

Function

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.

Involvement in disease

A chromosomal aberration involving KIRREL3 and CDH15 is found in a patient with severe intellectual disability and dysmorphic facial features. Translocation t(11;16)(q24.2;q24).

Post-translational modifications

Undergoes proteolysis by a metalloprotease and gives rise to a soluble form.

Sequence Similarities

Belongs to the immunoglobulin superfamily.

Tissue Specificity

Expressed in fetal and adult brain (PubMed:19012874). Also expressed in kidney, specifically in podocytes of kidney glomeruli (PubMed:12424224). Also expressed in skeletal muscle (PubMed:25488023).

Cellular localization

Alternative names

KIAA1867, NEPH2, UNQ5923/PRO4502/PRO19814, KIRREL3, Kin of IRRE-like protein 3, Kin of irregular chiasm-like protein 3, Nephrin-like protein 2

swissprot:Q8IZU9 entrezGene:84623 omim:607761