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

Gene: ST3GAL4

Alternate names for this Gene: CGS23|NANTA3|SAT3|SIAT4|SIAT4C|ST-4|ST3GalA.2|ST3GalIV|STZ|gal-NAc6S

Gene Summary: This gene encodes a member of the glycosyltransferase 29 family, a group of enzymes involved in protein glycosylation. The encoded protein is targeted to Golgi membranes but may be proteolytically processed and secreted. The gene product may also be involved in the increased expression of sialyl Lewis X antigen seen in inflammatory responses. Multiple 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: ST3 beta-galactoside alpha-2,3-sialyltransferase 4

Type of Gene: protein-coding

rs35458154 in KIRREL3;ST3GAL4 gene and Factor VIII measurement PMID 30586737 2019 Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.

rs4935969 in KIRREL3;ST3GAL4 gene and Hair Color PMID 20585627 2010 Web-based, participant-driven studies yield novel genetic associations for common traits.

rs1057519593 in KIRREL3;ST3GAL4 gene and Mental Retardation, Autosomal Dominant 4 PMID 19012874 2008 Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.

rs35458154 in KIRREL3;ST3GAL4 gene and von Willebrand's factor (lab test) PMID 30586737 2019 Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.