Gene: ELK3

Alternate names for this Gene: ERP|NET|SAP-2|SAP2

Gene Summary: This gene encodes a member of the ETS-domain transcription factor family and the ternary complex factor (TCF) subfamily. Proteins in this subfamily regulate transcription when recruited by serum response factor to bind to serum response elements. This protein is activated by signal-induced phosphorylation; studies in rodents suggest that it is a transcriptional inhibitor in the absence of Ras, but activates transcription when Ras is present. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 12

Location in Chromosome : 12q23.1

Description of this Gene: ETS transcription factor ELK3

Type of Gene: protein-coding

rs4762293 in ELK3 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.

rs4762284 in ELK3 gene and Precursor B-Cell Lymphoblastic Leukemia-Lymphoma PMID 27694927 2017 A genome-wide association study identifies risk loci for childhood acute lymphoblastic leukemia at 10q26.13 and 12q23.1.

PMID 29632299 2018 Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.

rs4762293 in ELK3 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.