Gene: BAK1
Alternate names for this Gene: BAK|BAK-LIKE|BCL2L7|CDN1
Gene Summary: The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form oligomers or heterodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein localizes to mitochondria, and functions to induce apoptosis. It interacts with and accelerates the opening of the mitochondrial voltage-dependent anion channel, which leads to a loss in membrane potential and the release of cytochrome c. This protein also interacts with the tumor suppressor P53 after exposure to cell stress.
Gene is located in Chromosome: 6
Location in Chromosome : 6p21.31
Description of this Gene: BCL2 antagonist/killer 1
Type of Gene: protein-coding
Gene: GGNBP1
Alternate names for this Gene: -
Gene Summary: This gene is the ortholog of the mouse gametogenetin-binding protein 1 gene. In human, the open reading frame is disrupted by a nonsense mutation after 8-aa; consequently, this gene is currently considered to be a unitary pseudogene in human even though it is functional in other mammals.
Gene is located in Chromosome: 6
Location in Chromosome : 6p21.31
Description of this Gene: gametogenetin binding protein 1 (pseudogene)
Type of Gene: pseudo
rs210134 in
BAK1;GGNBP1 gene and
Platelet Count measurement
PMID 24026423 2014 A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
PMID 26805783 2016 Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.
PMID 22139419 2011 New gene functions in megakaryopoiesis and platelet formation.
PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.
PMID 22423221 2012 A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.
PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.
PMID 19820697 2009 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
rs210134 in
BAK1;GGNBP1 gene and
Platelet mean volume determination (procedure)
PMID 22423221 2012 A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.