Gene: MAPRE2

Alternate names for this Gene: CSCSC2|EB1|EB2|RP1

Gene Summary: The protein encoded by this gene shares significant homology to the adenomatous polyposis coli (APC) protein-binding EB1 gene family. This protein is a microtubule-associated protein that is necessary for spindle symmetry during mitosis. It is thought to play a role in the tumorigenesis of colorectal cancers and the proliferative control of normal cells. Alternative splicing of this gene results in multiple transcript variants.

Gene is located in Chromosome: 18

Location in Chromosome : 18q12.1-q12.2

Description of this Gene: microtubule associated protein RP/EB family member 2

Type of Gene: protein-coding

rs16966292 in MAPRE2 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs16966292 in MAPRE2 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs864309717 in MAPRE2 gene and SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 2 PMID 26637975 2015 Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.