Gene: BLK

Alternate names for this Gene: MODY11

Gene Summary: This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors.

Gene is located in Chromosome: 8

Location in Chromosome : 8p23.1

Description of this Gene: BLK proto-oncogene, Src family tyrosine kinase

Type of Gene: protein-coding

rs1478898 in BLK gene and Circadian Rhythms PMID 26835600 2016 GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person.

rs2255327 in BLK gene and Cytokine Measurement PMID 22610502 2012 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.

rs10098664 in BLK gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs13277113 in BLK gene and Lupus Erythematosus, Systemic PMID 18204098 2008 Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.

PMID 19838193 2009 Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.

PMID 23053960 2012 Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.

PMID 23273568 2013 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.

PMID 18204446 2008 Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci.

PMID 19165918 2008 Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.

PMID 26663301 2016 Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans.

rs10100215 in BLK gene and Mucocutaneous Lymph Node Syndrome PMID 22446962 2012 A genome-wide association study identifies three new risk loci for Kawasaki disease.

rs2248325 in BLK gene and Phosphatidylcholine measurement PMID 31551469 2019 Genetic architecture of human plasma lipidome and its link to cardiovascular disease.

rs922483 in BLK gene and Rheumatoid Arthritis PMID 24532676 2015 High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.

rs2736345 in BLK gene and Sjogren's Syndrome PMID 24097067 2013 Variants at multiple loci implicated in both innate and adaptive immune responses are associated with Sjögren's syndrome.

rs2409781 in BLK gene and Systemic Scleroderma PMID 29293537 2018 Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations.