BLK Chromosome 8
BLK proto-oncogene, Src family tyrosine kinase
Upload your DNA to see your personal genotypes for variants in BLK.
What This Gene Does
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. [provided by RefSeq, Aug 2010]
Gene Info
Gene Group
"SH2 domain containing|Src family tyrosine kinases"
Locus Type
gene with protein product
Location
8p23.1
Ensembl
ENSG00000136573
Associated Conditions (4)
Systemic lupus erythematosus
Maturity-onset diabetes of the young type 11
BLK-related disorder
Monogenic diabetes
Key Variants
RS2306234
association
Systemic lupus erythematosus, Systemic lupus erythematosus
Health Risk
RS1042695
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11
Health Risk
RS138333004
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11
Health Risk
RS138547659
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11
Health Risk
RS138972988
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 11, Systemic lupus erythematosus, Maturity-onset diabetes of the young type 11
Health Risk
RS141947199
Conflicting classifications of pathogenicity
BLK-related disorder, BLK-related disorder
Health Risk
RS144592409
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11
Health Risk
RS146505280
Conflicting classifications of pathogenicity
Systemic lupus erythematosus, Maturity-onset diabetes of the young type 11, BLK-related disorder
Health Risk
RS149279535
Conflicting classifications of pathogenicity
Health Risk
RS199696853
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 11, Systemic lupus erythematosus, Maturity-onset diabetes of the young type 11
Health Risk
RS200091252
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 11, BLK-related disorder, Maturity-onset diabetes of the young type 11
Health Risk
RS201252364
Conflicting classifications of pathogenicity
Maturity-onset diabetes of the young type 11, Systemic lupus erythematosus, Maturity-onset diabetes of the young type 11
Health Risk
All Variants (24)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2306234 | Health Risk | association | Systemic lupus erythematosus, Systemic lupus erythematosus |
| RS1042695 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11 |
| RS138333004 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11 |
| RS138547659 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11 |
| RS138972988 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 11, Systemic lupus erythematosus, Maturity-onset diabetes of the young type 11 |
| RS141947199 | Health Risk | Conflicting classifications of pathogenicity | BLK-related disorder, BLK-related disorder |
| RS144592409 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11 |
| RS146505280 | Health Risk | Conflicting classifications of pathogenicity | Systemic lupus erythematosus, Maturity-onset diabetes of the young type 11, BLK-related disorder |
| RS149279535 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS199696853 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 11, Systemic lupus erythematosus, Maturity-onset diabetes of the young type 11 |
| RS200091252 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 11, BLK-related disorder, Maturity-onset diabetes of the young type 11 |
| RS201252364 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 11, Systemic lupus erythematosus, Maturity-onset diabetes of the young type 11 |
| RS202028021 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 11, Monogenic diabetes, Maturity-onset diabetes of the young type 11 |
| RS550720173 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11 |
| RS55836779 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11 |
| RS73663163 | Health Risk | Conflicting classifications of pathogenicity | Systemic lupus erythematosus, Maturity-onset diabetes of the young type 11, Systemic lupus erythematosus |
| RS746710451 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11 |
| RS750408108 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS764915190 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11 |
| RS77401687 | Health Risk | Conflicting classifications of pathogenicity | Maturity-onset diabetes of the young type 11, BLK-related disorder, Maturity-onset diabetes of the young type 11 |
| RS775121719 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1307379746 | Health Risk | Pathogenic | Systemic lupus erythematosus, Systemic lupus erythematosus |
| RS758750492 | Health Risk | Pathogenic | Systemic lupus erythematosus, Systemic lupus erythematosus |
| RS886037620 | Health Risk | Pathogenic | Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11 |