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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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BLK
BLK proto-oncogene, Src family tyrosine kinase
Chromosome 8 · 8p23.1
NCBI Gene: 640Ensembl: ENSG00000136573.17HGNC: HGNC:1057UniProt: P51451
119PubMed Papers
21Diseases
5Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
Kinase
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
B cell receptor signaling pathwayprotein bindingprotein tyrosine kinase activitynon-membrane spanning protein tyrosine kinase activitysystemic lupus erythematosuschronic myelogenous leukemiarheumatoid arthritismucocutaneous lymph node syndrome
✦AI Summary

BLK is a non-receptor Src family tyrosine kinase essential for B-lymphocyte development and signaling. It phosphorylates key B-cell receptor (BCR) signaling components including CD79A and CD79B, facilitating antigen-induced B-cell activation and the pro-B to pre-B transition 1. BLK cooperates with FYN and LYN in pre-BCR-mediated NF-κB activation and contributes to BTK activation, supporting critical early B-cell developmental checkpoints. Beyond immune function, BLK regulates pancreatic beta-cell insulin secretion through PDX1 and NKX6-1 upregulation 2. BLK also phosphorylates cGAS at tyrosine 215, promoting its cytosolic retention and limiting DNA repair capacity 3. Clinically, BLK polymorphisms are strongly associated with systemic lupus erythematosus (SLE) across multiple ethnic populations, with rs13277113 A and rs2736340 T alleles conferring increased disease susceptibility 4. BLK variants also associate with primary Sjögren's syndrome 5, Kawasaki disease 6, and allergic rhinitis 7, highlighting its role in autoimmune and inflammatory pathogenesis. Gene-gene interactions between BLK and BANK1 further modulate SLE risk 8. These associations underscore BLK's importance in both normal immune homeostasis and disease pathogenesis, with potential therapeutic implications for autoimmune conditions.

Sources cited
1
BLK phosphorylates immunoglobulin G receptors FCGR2A, FCGR2B and FCGR2C
PMID: 8756631
2
BLK acts as a modulator of pancreatic beta-cell function through upregulation of PDX1 and NKX6-1, stimulating insulin secretion
PMID: 19667185
3
BLK phosphorylates cGAS at tyrosine 215, facilitating cytosolic retention of cGAS and suppressing homologous recombination
PMID: 30356214
4
BLK rs13277113 A/G and rs2736340 T/C polymorphisms are associated with SLE susceptibility across Caucasian, Asian, and African populations
PMID: 27067206
5
FAM167A-BLK locus variants associate with primary Sjögren's syndrome, with BLK involved in B-cell differentiation and activation
PMID: 20861858
6
BLK variants associate with Kawasaki disease genetic predisposition
PMID: 25405820
7
BLK rs2736340 risk genotype associates with decreased BLK mRNA levels and gene-gene interaction with BANK1 in SLE pathogenesis
PMID: 26420661
8
BLK polymorphisms rs13277113 and rs1600249 associate with allergic rhinitis susceptibility with gene-gene interactions involving TNFSF4
PMID: 28713926
Disease Associationsⓘ21
systemic lupus erythematosusOpen Targets
0.68Moderate
chronic myelogenous leukemiaOpen Targets
0.60Moderate
rheumatoid arthritisOpen Targets
0.54Moderate
mucocutaneous lymph node syndromeOpen Targets
0.54Moderate
acute lymphoblastic leukemiaOpen Targets
0.54Moderate
MODYOpen Targets
0.49Moderate
systemic sclerodermaOpen Targets
0.48Moderate
neoplasmOpen Targets
0.42Moderate
connective tissue diseaseOpen Targets
0.39Weak
lymphoid leukemiaOpen Targets
0.39Weak
Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 PositiveOpen Targets
0.39Weak
esophageal adenocarcinomaOpen Targets
0.36Weak
hypothyroidismOpen Targets
0.35Weak
Sjogren syndromeOpen Targets
0.34Weak
COVID-19Open Targets
0.33Weak
breast cancerOpen Targets
0.33Weak
myositisOpen Targets
0.32Weak
mixed connective tissue diseaseOpen Targets
0.31Weak
squamous cell carcinomaOpen Targets
0.31Weak
leukemiaOpen Targets
0.30Weak
Maturity-onset diabetes of the young 11UniProt
Pathogenic Variants3
NC_000008.11:g.11474238G>APathogenic
Maturity-onset diabetes of the young type 11
☆☆☆☆2009
NM_001715.3(BLK):c.919C>G (p.Pro307Ala)Pathogenic
Systemic lupus erythematosus
☆☆☆☆→ Residue 307
NM_001715.3(BLK):c.1048T>C (p.Tyr350His)Pathogenic
Systemic lupus erythematosus
☆☆☆☆→ Residue 350
View on ClinVar ↗
Drug Targets5
DASATINIB ANHYDROUSApproved
Bcr/Abl fusion protein inhibitor
acute lymphoblastic leukemia
ENMD-981693Phase II
Fibroblast growth factor receptor inhibitor
ILORASERTIBPhase II
Platelet-derived growth factor receptor inhibitor
TG100-801Phase II
Ephrin type-B receptor 4 inhibitor
macular degeneration
XL-228Phase I
Insulin-like growth factor I receptor inhibitor
childhood leukemia
Related Genes
CD19Protein interaction99%CD79AProtein interaction99%CD79BProtein interaction96%MS4A1Protein interaction93%POU2AF1Protein interaction91%FAM167AProtein interaction87%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
74%
Liver
54%
Heart
7%
Brain
4%
Ovary
3%
Gene Interaction Network
Click a node to explore
BLKCD19CD79ACD79BMS4A1POU2AF1FAM167A
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P51451
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.29LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.05 [0.86–1.29]
RankingsWhere BLK stands among ~20K protein-coding genes
  • #3,957of 20,598
    Most Researched119 · top quartile
  • #929of 1,025
    FDA-Approved Drug Targets1
  • #3,975of 5,498
    Most Pathogenic Variants3
  • #13,634of 17,882
    Most Constrained (LOEUF)1.29
Genes detectedBLK
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Nuclear cGAS suppresses DNA repair and promotes tumorigenesis.
PMID: 30356214
Nature · 2018
1.00
2
Biostatistics 104: correlational analysis.
PMID: 14770254
Singapore Med J · 2003
0.90
3
Association of EBF1, FAM167A(C8orf13)-BLK and TNFSF4 gene variants with primary Sjögren's syndrome.
PMID: 20861858
Genes Immun · 2011
0.80
4
Genetics of vasculitis.
PMID: 25405820
Curr Opin Rheumatol · 2015
0.70
5
Inhibitors supercharge kinase turnover through native proteolytic circuits.
PMID: 41299171
Nature · 2026
0.60