Gene: SPI1

Alternate names for this Gene: OF|PU.1|SFPI1|SPI-1|SPI-A

Gene Summary: This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11p11.2

Description of this Gene: Spi-1 proto-oncogene

Type of Gene: protein-coding

rs3740688 in SPI1 gene and Alzheimer's Disease PMID 29777097 2018 GWAS on family history of Alzheimer's disease.

rs10769256 in SPI1 gene and Anxiety PMID 29942085 2018 Meta-analysis of genome-wide association studies for neuroticism in 449,484 individuals identifies novel genetic loci and pathways.

rs11039216 in SPI1 gene and Blood urea nitrogen measurement PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs4752829 in SPI1 gene and C-reactive protein measurement PMID 30388399 2018 Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders.

rs142497874 in SPI1 gene and Corpuscular Hemoglobin Concentration Mean PMID 30576415 2019 Very low-depth whole-genome sequencing in complex trait association studies.

rs11039216 in SPI1 gene and Electrocardiography PMID 29622589 2018 Genome-Wide Associations of Global Electrical Heterogeneity ECG Phenotype: The ARIC (Atherosclerosis Risk in Communities) Study and CHS (Cardiovascular Health Study).

rs10838702 in SPI1 gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs4992357 in SPI1 gene and Intelligence PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

rs10769263 in SPI1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11039216 in SPI1 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs3740689 in SPI1 gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

rs140541052 in SPI1 gene and Venous Thrombosis PMID 22675575 2012 Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis.