Gene: NUMB

Alternate names for this Gene: C14orf41|S171|c14_5527

Gene Summary: The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.2-q24.3

Description of this Gene: NUMB endocytic adaptor protein

Type of Gene: protein-coding

rs10141031 in NUMB 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.

rs2333194 in NUMB gene and Bipolar Disorder PMID 23092984 2012 These associations were present in all three samples, and both rs1171113 and rs2333194 were found to be overrepresented in an analysis of MICP cases compared with all other BP cases.

rs10141031 in NUMB 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.