Gene: HOOK2

Alternate names for this Gene: HK2

Gene Summary: Hook proteins are cytosolic coiled-coil proteins that contain conserved N-terminal domains, which attach to microtubules, and more divergent C-terminal domains, which mediate binding to organelles. The Drosophila Hook protein is a component of the endocytic compartment.[supplied by OMIM, Apr 2004].

Gene is located in Chromosome: 19

Location in Chromosome : 19p13.13

Description of this Gene: hook microtubule tethering protein 2

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

rs117758012 in HOOK2;MAST1 gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

rs2242512 in HOOK2;MAST1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs59252007 in HOOK2;MAST1 gene and Finding of Mean Corpuscular Hemoglobin PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs117758012 in HOOK2;MAST1 gene and Monocyte count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs117758012 in HOOK2;MAST1 gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11672387 in HOOK2;MAST1 gene and RDW - Red blood cell distribution width result PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs117062702 in HOOK2;MAST1 gene and Red Blood Cell Count measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

rs11672387 in HOOK2;MAST1 gene and Red cell distribution width determination PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs11672387 in HOOK2;MAST1 gene and Reticulocyte count (procedure) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.