Gene: MYCN

Alternate names for this Gene: MODED|N-myc|NMYC|ODED|bHLHe37

Gene Summary: This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 2

Location in Chromosome : 2p24.3

Description of this Gene: MYCN proto-oncogene, bHLH transcription factor

Type of Gene: protein-coding

rs759103701 in MYCN gene and Esophageal atresia with or without tracheoesophageal fistula PMID 15821734 2005 MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

rs104893646 in MYCN gene and FEINGOLD SYNDROME 1 PMID 18470948 2008 Genotype-phenotype correlations in MYCN-related Feingold syndrome.

PMID 15821734 2005 MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

PMID 16906565 2006 Expanding the clinical spectrum of MYCN-related Feingold syndrome.

rs759103701 in MYCN gene and Short middle phalanx of finger PMID 15821734 2005 MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.

rs759103701 in MYCN gene and Short palpebral fissure PMID 15821734 2005 MYCN haploinsufficiency is associated with reduced brain size and intestinal atresias in Feingold syndrome.