Gene: KIRREL3

Alternate names for this Gene: KIRRE|MRD4|NEPH2|PRO4502

Gene 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q24.2

Description of this Gene: kirre like nephrin family adhesion molecule 3

Type of Gene: protein-coding

rs10790809 in KIRREL3 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs7941193 in KIRREL3 gene and Degenerative polyarthritis PMID 22763110 2012 Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study.

rs75904068 in KIRREL3 gene and Hip circumference PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.