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

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

rs511515 in GGNBP1;BAK1 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.

rs210142 in GGNBP1;BAK1 gene and Chronic Lymphocytic Leukemia PMID 23770605 2013 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.

PMID 22700719 2012 We identified a novel CLL risk locus at 6p21.33 (rs210142; intronic to the BAK1 gene, BCL2 antagonist killer 1; P = 9.47 × 10(-16)).

PMID 28112199 2017 Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci.

PMID 28165464 2017 Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.

rs511515 in GGNBP1;BAK1 gene and Eosinophil count procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs5745568 in GGNBP1;BAK1 gene and Hepatitis B PMID 21750111 2011 A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.

rs5745571 in GGNBP1;BAK1 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs210143 in GGNBP1;BAK1 gene and Hodgkin Disease PMID 28112199 2017 Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci.

rs210138 in GGNBP1;BAK1 gene and Malignant Testicular Germ Cell Tumor PMID 20543847 2010 Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer.

rs210143 in GGNBP1;BAK1 gene and Multiple Myeloma PMID 28112199 2017 Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci.

rs210138 in GGNBP1;BAK1 gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs210142 in GGNBP1;BAK1 gene and Platelet Count measurement 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.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 23263863 2013 GWAS of blood cell traits identifies novel associated loci and epistatic interactions in Caucasian and African-American children.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 26805783 2016 Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans.

PMID 25705162 2014 Genome-wide association study identifies candidate Loci associated with platelet count in koreans.

rs5745571 in GGNBP1;BAK1 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs210142 in GGNBP1;BAK1 gene and Small Lymphocytic Lymphoma PMID 22700719 2012 Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia.

PMID 23770605 2013 Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia.

PMID 28165464 2017 Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia.

PMID 28112199 2017 Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci.

rs210138 in GGNBP1;BAK1 gene and Testicular Germ Cell Tumor PMID 23666240 2013 Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.

PMID 23666239 2013 Meta-analysis identifies four new loci associated with testicular germ cell tumor.

PMID 28604728 2017 Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor.

PMID 28604732 2017 Meta-analysis of five genome-wide association studies identifies multiple new loci associated with testicular germ cell tumor.

PMID 19483681 2009 A genome-wide association study of testicular germ cell tumor.

rs210138 in GGNBP1;BAK1 gene and Testicular Neoplasms PMID 23666239 2013 Meta-analysis identifies four new loci associated with testicular germ cell tumor.

PMID 23666240 2013 Identification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.

PMID 19483681 2009 A genome-wide association study of testicular germ cell tumor.