Gene: SP3

Alternate names for this Gene: SPR2

Gene Summary: This gene belongs to a family of Sp1 related genes that encode transcription factors that regulate transcription by binding to consensus GC- and GT-box regulatory elements in target genes. This protein contains a zinc finger DNA-binding domain and several transactivation domains, and has been reported to function as a bifunctional transcription factor that either stimulates or represses the transcription of numerous genes. Transcript variants encoding different isoforms have been described for this gene, and one has been reported to initiate translation from a non-AUG (AUA) start codon. Additional isoforms, resulting from the use of alternate downstream translation initiation sites, have also been noted. A related pseudogene has been identified on chromosome 13.

Gene is located in Chromosome: 2

Location in Chromosome : 2q31.1

Description of this Gene: Sp3 transcription factor

Type of Gene: protein-coding

rs6433457 in SP3 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4325816 in SP3 gene and Multiple Myeloma PMID 30213928 2018 Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.