KIRREL3

Kin of IRRE-like protein 3 (KIRREL3) also known as kin of irregular chiasm-like protein 3 or NEPH2 is a protein that in humans is encoded by the KIRREL3 gene.^[5]

KIRREL3
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2CRY
Identifiers
Aliases	KIRREL3, KIRRE, MRD4, NEPH2, PRO4502, kin of IRRE like 3 (Drosophila), Kin of IRRE-like protein 3, kirre like nephrin family adhesion molecule 3
External IDs	OMIM: 607761; MGI: 1914953; HomoloGene: 57050; GeneCards: KIRREL3; OMA:KIRREL3 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11q24.2 Start 126,423,358 bp[1] End 127,003,460 bp[1]
Gene location (Mouse) Chr. Chromosome 9 (mouse)[2] Band 9|9 A4 Start 34,485,894 bp[2] End 35,036,716 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in middle temporal gyrus nucleus accumbens Brodmann area 23 prefrontal cortex right frontal lobe caudate nucleus putamen Brodmann area 9 endothelial cell C1 segment Top expressed in Rostral migratory stream lobe of cerebellum cerebellar vermis nucleus accumbens substantia nigra lumbar subsegment of spinal cord hand dentate gyrus of hippocampal formation granule cell inferior colliculi otolith organ More reference expression data BioGPS n/a
Gene ontology Molecular function protein binding Cellular component dendritic shaft integral component of membrane extracellular region axon plasma membrane membrane dendrite Biological process neuron projection morphogenesis neuron migration inter-male aggressive behavior principal sensory nucleus of trigeminal nerve development glomerulus morphogenesis hippocampus development homophilic cell adhesion via plasma membrane adhesion molecules synapse assembly hemopoiesis Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84623 67703 Ensembl ENSG00000149571 ENSMUSG00000032036 UniProt Q8IZU9 Q8BR86 RefSeq (mRNA) NM_001161707 NM_001301097 NM_032531 NM_001190911 NM_001190912 NM_001190913 NM_001190914 NM_026324 RefSeq (protein) NP_001155179 NP_001288026 NP_115920 NP_001177840 NP_001177841 NP_001177842 NP_001177843 NP_080600 Location (UCSC) Chr 11: 126.42 – 127 Mb Chr 9: 34.49 – 35.04 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

NEPH2 is a member of the NEPH protein family of transmembrane proteins, which includes NEPH1 (KIRREL) and NEPH3 (KIRREL2). The NEPH proteins can interact with nephrin and CASK.

Function

NEPH2 has been implicated in synapse formation.^[6] Disruption of KIRREL3 gene function had been associated with abnormal brain function.^[7]

NEPH1 and NEPH2 are involved in the blood filtration function of the kidney and are located in the slit diaphragm.^[8]