Gene: DNASE2

Alternate names for this Gene: DNASE2A|DNL|DNL2

Gene Summary: This gene encodes a member of the DNase family. The protein, located in the lysosome, hydrolyzes DNA under acidic conditions and mediates the breakdown of DNA during erythropoiesis and apoptosis. Two codominant alleles have been characterized, DNASE2*L (low activity) and DNASE2*H (high activity), that differ at one nucleotide in the promoter region. The DNASE2*H allele is represented in this record.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.13

Description of this Gene: deoxyribonuclease 2, lysosomal

Type of Gene: protein-coding

Gene: MAST1

Alternate names for this Gene: MCCCHCM|SAST

Gene Summary: This gene is a member of the microtubule-associated serine/threonine kinase (MAST) family. The protein encoded by this gene has an N-terminal serine/threonine kinase domain followed by a postsynaptic density protein-95/discs large/zona occludens-1 (PDZ) domain. In mouse and rat, the orthologous protein associates with the cytoskeleton and can bind both beta-2-syntrophin and neuronal nitric oxide synthase (nNOS) through its PDZ domain. In mouse and rat, this protein also co-localizes with dystrophin- and utrophin-associated protein complexes (DAPC/UAPC) in the vascular endothelium of the central nervous system.

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.13

Description of this Gene: microtubule associated serine/threonine kinase 1

Type of Gene: protein-coding

rs11085822 in DNASE2;MAST1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs11085822 in DNASE2;MAST1 gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.