Gene: PDZRN3

Alternate names for this Gene: LNX3|SEMACAP3|SEMCAP3

Gene Summary: This gene encodes a member of the LNX (Ligand of Numb Protein-X) family of RING-type ubiquitin E3 ligases. This protein may function in vascular morphogenesis and the differentiation of adipocytes, osteoblasts and myoblasts. This protein may be targeted for degradation by the human papilloma virus E6 protein. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3p13

Description of this Gene: PDZ domain containing ring finger 3

Type of Gene: protein-coding

rs13087058 in PDZRN3 gene and Electrocardiogram: P-R interval PMID 30046033 2018 PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.

rs11128347 in PDZRN3 gene and Kidney Failure, Chronic PMID 21546767 2011 Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes.

rs11709074 in PDZRN3 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs748809996 in PDZRN3 gene and Schizophrenia, Childhood PMID 26508570 2016 De novo variants in sporadic cases of childhood onset schizophrenia.