Gene: ENSA

Alternate names for this Gene: ARPP-19e

Gene Summary: The protein encoded by this gene belongs to a highly conserved cAMP-regulated phosphoprotein (ARPP) family. This protein was identified as an endogenous ligand for the sulfonylurea receptor, ABCC8/SUR1. ABCC8 is the regulatory subunit of the ATP-sensitive potassium (KATP) channel, which is located on the plasma membrane of pancreatic beta cells and plays a key role in the control of insulin release from pancreatic beta cells. This protein is thought to be an endogenous regulator of KATP channels. In vitro studies have demonstrated that this protein modulates insulin secretion through the interaction with KATP channel, and this gene has been proposed as a candidate gene for type 2 diabetes. At least eight alternatively spliced transcript variants encoding distinct isoforms have been observed.

Gene is located in Chromosome: 1

Location in Chromosome : 1q21.3

Description of this Gene: endosulfine alpha

Type of Gene: protein-coding

rs11204682 in ENSA gene and Blood basophil count (lab test) PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs11204682 in ENSA gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs6681426 in ENSA gene and Forced expiratory volume function PMID 26635082 2015 Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.

rs12045807 in ENSA gene and HYPOPLASTIC LEFT HEART SYNDROME 1 PMID 26965164 2016 A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

rs12045807 in ENSA gene and HYPOPLASTIC LEFT HEART SYNDROME 2 PMID 26965164 2016 A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20.

rs4970966 in ENSA gene and Monocyte count procedure PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs4970966 in ENSA gene and Monocyte count result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs11204682 in ENSA gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs6681426 in ENSA gene and Vital capacity PMID 26635082 2015 Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation.

rs11204682 in ENSA gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.