Gene: SPIB
Alternate names for this Gene: SPI-B
Gene Summary: The protein encoded by this gene is a transcriptional activator that binds to the PU-box (5'-GAGGAA-3') and acts as a lymphoid-specific enhancer. Four transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 19
Location in Chromosome : 19q13.33
Description of this Gene: Spi-B transcription factor
Type of Gene: protein-coding
rs3745516 in
SPIB gene and
Biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
PMID 20639880 2010 Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
rs1726773 in
SPIB gene and
Primary biliary cirrhosis
PMID 21399635 2011 Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
PMID 20639880 2010 Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.
PMID 26394269 2015 International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.