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FLASH GENE
Symbol BLNK contributors: mct/pgu - updated : 18-01-2022
HGNC name B-cell linker
HGNC id 14211
Corresponding disease
HGMAR hypogammaglobulinemia, early onset and absent B cells
Location 10q24.1      Physical location : 97.951.462 - 98.031.333
Synonym name
  • B cell adapter containing SH2 domain
  • B cell adapter containing Src homology 2 domain
  • B cell-specific adaptor protein
  • B-cell adapter containing a Src homology 2 domain protein
  • Src homology 2 domain-containing leukocyte protein of 65 kD
    • Synonym symbol(s) SLP65, BASH, Ly57, BLNK-s, SLP-65, AGM4, MGC111051
    DNA
    TYPE functioning gene
    STRUCTURE 79.88 kb     17 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    14 - 1298 - 299 - 2001 11226282
    17 - 1828 50 456 - 2001 11226282
    16 splicing 1760 47 433 - 2001 11226282
    BLKKs
    15 - 1544 - 381 - 2001 11226282
    16 - 1613 - 404 - 2001 11226282
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    blood / hematopoieticspleen   highly
    Digestiveliver    
    Lymphoid/Immunethymus   highly
    Urinarykidney    
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / Hematopoietic    
    Muscularstriatumskeletal  
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Blood/Hematopoieticleukocyte
    Lymphoid/ImmuneB cell
    cell lineage hematopoietic pre B cells
    cell lines B cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES acid ,basic
    STRUCTURE
    motifs/domains
  • bound to the plasma membrane through an N-terminal leucine zipper motif
  • proline rich domain
  • a 10-AAs Ras-binding domain necessary for restoration of BCR-mediated ERK activation in BLNK-deficient B cells and for anti-apoptotic signaling
  • C-terminal SH2 domain with specificity for phosphorylated tyrosine residues in the consensus motif YXDV, indispensable structural element for membrane anchoring in activated B cells
    • HOMOLOGY
    interspecies ortholog to murine Blnk
    Homologene
    FAMILY
    CATEGORY adaptor
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,cytosolic
    basic FUNCTION
  • adaptor molecule crucial for normal B-cell development
  • involved in T cell antigen receptor mediated signaling
  • important adaptor protein selectively expressed in B-lineage cells
  • recruits active H-Ras to the B cell receptor (BCR) complex, which is essential for sustained surface expression of BCR in the form of the cap and for the signal leading to functional ERK activation
  • BLNK-phosphorylation acts upstream for signal initiation and also downstream during selective processing of the BCR signal
  • both BLNK and SH3KBP1 are key components of the BCR-associated primary transducer module required for the onset and progression phases of BCR signal transduction
  • pivotal adaptor protein in the signal transduction pathway from the IgM class B-cell receptor
  • has a nonredundant role in human B-cell differentiation
  • adaptor protein that orchestrates signalling downstream of B-cell receptors
  • is a key potential gene in the regulation of autophagy-related thyroid cancer progression
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    text required for B cell development
    PATHWAY
    metabolism
    signaling signal transduction
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • mediating SYK dependent BTK activation (specific substrate of the protein tyrosine kinase SYK )
  • integrator of BTK and SYK activities into downstream effectors such as GRB2, phospholipase C, VAV1
  • colocalizing with CMTM3 in a manner dependent on its N-terminal domain
  • EFHD2 provides a membrane scaffold that is required for the SYK-, BLNK-, and PLCgamma2-dependent BCR-induced calcium flux
  • SCIMP binds to the BLNK adaptor protein and also to the inhibitory kinase CSK
  • SYK and its substrate BLNK are proximal signal transducer elements of the B-cell antigen receptor (BCR)
  • CMTM7 bound to BLNK in a membrane fraction, and their association was augmented after surface IgM ligation
  • BCNP1 promotes BCR signaling by modulating the phosphorylation of BLNK, SYK, and PLCG2
  • interaction of BLNK with 14-3-3 proteins
    • cell & other
    REGULATION
    Other phosphorylated by SYK
    ASSOCIATED DISORDERS
    corresponding disease(s) HGMAR
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral germinal mutation     loss of function
    in human pre-B acute lymphoblastic leukemia (ALL)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS