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FLASH GENE
Symbol BLNK contributors: mct/pgu - updated : 13-09-2012
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
    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
    Physical map
    CYP2C9 10q24.1 cytochrome P450, family 2, subfamily C, polypeptide 9 CYP2C8 10q23.33 cytochrome P450, family 2, subfamily C, polypeptide 8 LOC387705 10 LOC387705 LOC142827 10q24.1 similar to Hypothetical protein MGC56918 PDLIM1 10q22-q26.3 PDZ and LIM domain 1 (elfin) SORBS1 10q23.3-q24.1 sorbin and SH3 domain containing 1 LOC389999 10 similar to ribosomal protein S3a; 40S ribosomal protein S3a; v-fos transformation effector protein 1 PYCS 10q24.3 pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase) DKFZP564D116 10q24.1 DKFZP564D116 protein ENTPD1 10q24 ectonucleoside triphosphate diphosphohydrolase 1 LOC387706 10 LOC387706 LOC387707 10 similar to RIKEN cDNA 5730509K17 gene FLJ10895 10pter-q26.12 hypothetical protein FLJ10895 KIAA0335 10cen-q26.11 hypothetical protein FLJ10895 LOC387708 10 similar to nucleophosmin 1; nucleolar phosphoprotein B23; numatrin; nucleophosmin/nucleoplasmin family, member 1 BLNK 10q23.2 B-cell linker DNTT 10q24 deoxynucleotidyltransferase, terminal TMEM10 10q23-q24 transmembrane protein 10 TLL2 10q23-q24 tolloid-like 2 SMBP 10q24.2 SM-11044 binding protein PIK3AP1 10q24.2 phosphoinositide-3-kinase adaptor protein 1 LOC283340 10q24.2 similar to ribosomal protein L13a; 60S ribosomal protein L13a; 23 kD highly basic protein LOC387709 10 LOC387709 C10orf12 10q24.2 chromosome 10 open reading frame 12 SLIT1 10q23.3-q24 slit homolog 1 (Drosophila) ARHGAP19 10q24.2 Rho GTPase activating protein 19 FRAT1 10q24.1 frequently rearranged in advanced T-cell lymphomas FRAT2 10q23-q24.1 frequently rearranged in advanced T-cell lymphomas 2 KIAA0690 10q23.33 frequently rearranged in advanced T-cell lymphomas 2 PGAM1 10q25.3 phosphoglycerate mutase 1 (brain) CSL4 10q24 exosomal core protein CSL4 ZDHHC16 10q24.1 zinc finger, DHHC domain containing 16 MMS19L 10q24-q25 MMS19-like (MET18 homolog, S. cerevisiae) FLJ11807 10q24.2 hypothetical protein FLJ11807 ANKRD2 10q23.31-q23.32 ankyrin repeat domain 2 (stretch responsive muscle)
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 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
    • 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
  • 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
    • cell & other
    REGULATION
    Other phosphorylated by SYK
    ASSOCIATED DISORDERS
    corresponding disease(s) HGMAR
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS