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BLK

Chr 8p23.1

BLK proto-oncogene, Src family tyrosine kinase

Aliases:
MGC10442
MANE:
ENST00000259089.9

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • COVID-19 research

    Unknown
  • Diabetes with additional phenotypes suggestive of a monogenic aetiology

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Familial diabetes

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Monogenic diabetes

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
  • Multi-organ autoimmune diabetes

    MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

  • systemic lupus erythematosus

    0.66
  • chronic myelogenous leukemia, BCR-ABL1 positive

    0.60
  • acute lymphoblastic leukemia

    0.55
  • Kawasaki disease

    0.50
  • rheumatoid arthritis

    0.50
  • MODY

    0.49
  • systemic sclerosis

    0.44
  • lymphoid leukemia

    0.41
  • neoplasm

    0.40
  • blast phase chronic myelogenous leukemia, BCR-ABL1 positive

    0.37

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Tyrosine-protein kinase Blk

Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling (By similarity). B-cell receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and associated coreceptors (By similarity). Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that ultimately leads to B-cell activation (By similarity). Signaling through BLK plays an important role in transmitting signals through surface immunoglobulins and supports the pro-B to pre-B transition, as well as the signaling for growth arrest and apoptosis downstream of B-cell receptor (By similarity). Specifically binds and phosphorylates CD79A at 'Tyr-188'and 'Tyr-199', as well as CD79B at 'Tyr-196' and 'Tyr-207' (By similarity). Also phosphorylates the immunoglobulin G receptors FCGR2A, FCGR2B and FCGR2C (PubMed:8756631). With FYN and LYN, plays an essential role in pre-B-cell receptor (pre-BCR)-mediated NF-kappa-B activation (By similarity). Also contributes to BTK activation by indirectly stimulating BTK intramolecular autophosphorylation (By similarity). In pancreatic islets, acts as a modulator of beta-cells function through the up-regulation of PDX1 and NKX6-1 and consequent stimulation of insulin secretion in response to glucose (PubMed:19667185). Phosphorylates CGAS, promoting retention of CGAS in the cytosol (PubMed:30356214)

Curated MONDO disease pages that list BLK among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.