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BLK Gene

protein-coding   GIFtS: 72
GCID: GC08P011388

B Lymphoid Tyrosine Kinase

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
B Lymphoid Tyrosine Kinase1 2     MODY112 5
B Lymphocyte Kinase2 3     BLK Nonreceptor Tyrosine Kinase2
p55-Blk2 3     Tyrosine-Protein Kinase Blk2
EC 2.7.10.23 8     

External Ids:    HGNC: 10571   Entrez Gene: 6402   Ensembl: ENSG000001365737   OMIM: 1913055   UniProtKB: P514513   

Export aliases for BLK gene to outside databases

Previous GC identifers: GC08P011414 GC08P011222 GC08P010282


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for BLK Gene:
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)

GeneCards Summary for BLK Gene:
BLK (B lymphoid tyrosine kinase) is a protein-coding gene. Diseases associated with BLK include maturity-onset diabetes of the young type11, and maturity-onset diabetes of the young, type 11. GO annotations related to this gene include non-membrane spanning protein tyrosine kinase activity and protein tyrosine kinase activity. An important paralog of this gene is FRK.

UniProtKB/Swiss-Prot: BLK_HUMAN, P51451
Function: Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling. B-cell
receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and
associated coreceptors. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that
ultimately leads to B-cell activation. 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. Specifically binds and phosphorylates CD79A at 'Tyr-188'and
'Tyr-199', as well as CD79B at 'Tyr-196' and 'Tyr-207'. Phosphorylates also the immunoglobulin G receptors
FCGR2A, FCGR2B and FCGR2C. With FYN and LYN, plays an essential role in pre-B-cell receptor (pre-BCR)-mediated
NF-kappa-B activation. Contributes also to BTK activation by indirectly stimulating BTK intramolecular
autophosphorylation. 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

Gene Wiki entry for BLK (Tyrosine-protein kinase BLK) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000008.11  NT_077531.5  NC_018919.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the BLK gene promoter:
         TBP   Spz1   AML1a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBLK promoter sequence
   Search Chromatin IP Primers for BLK

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat BLK


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p23-p22   Ensembl cytogenetic band:  8p23.1   HGNC cytogenetic band: 8p23-p22

BLK Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BLK gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P011388:  view genomic region     (about GC identifiers)

Start:
11,351,510 bp from pter      End:
11,422,113 bp from pter
Size:
70,604 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BLK_HUMAN, P51451 (See protein sequence)
Recommended Name: Tyrosine-protein kinase Blk  
Size: 505 amino acids; 57706 Da
Subunit: Interacts with CBL (via SH2 domain). Interacts with CD79A and CD79B (via SH2 domain) (By similarity)
Secondary accessions: Q16291 Q96IN1

Explore the universe of human proteins at neXtProt for BLK: NX_P51451

Explore proteomics data for BLK at MOPED

Post-translational modifications: 

  • Phosphorylated on tyrosine residues after antibody-mediated surface engagement of the B-cell antigen receptor
    (BCR) (By similarity)1
  • Ubiquitination of activated BLK by the UBE3A ubiquitin protein ligase leads to its degradation by the
    ubiquitin-proteasome pathway (By similarity)1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for BLK (P51451) (see all 15)
     KWTAPEA  DMSAQIA  FLIRESE  DFYTATE 


    See BLK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001706.2  
    ENSEMBL proteins: 
     ENSP00000259089   ENSP00000433663  
    Reactome Protein details: P51451

    BLK Human Recombinant Protein Products:

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    BLK Assay Products:

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    Cloud-Clone Corp. CLIAs for BLK


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SH2D: SH2 domain containing

    IUPHAR Guide to PHARMACOLOGY protein family classification: B lymphoid tyrosine kinase
    Src family

    Selected InterPro protein domains (see all 7):
     IPR017441 Protein_kinase_ATP_BS
     IPR011009 Kinase-like_dom
     IPR001452 SH3_domain
     IPR000719 Prot_kinase_dom
     IPR001245 Ser-Thr/Tyr_kinase_cat_dom

    Graphical View of Domain Structure for InterPro Entry P51451

    ProtoNet protein and cluster: P51451

    3 Blocks protein domains:
    IPB000980 SH2 domain signature
    IPB001452 SH3 domain signature
    IPB008266 Tyrosine protein kinase


    UniProtKB/Swiss-Prot: BLK_HUMAN, P51451
    Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily
    Similarity: Contains 1 protein kinase domain
    Similarity: Contains 1 SH2 domain
    Similarity: Contains 1 SH3 domain


    BLK for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BLK_HUMAN, P51451
    Function: Non-receptor tyrosine kinase involved in B-lymphocyte development, differentiation and signaling. B-cell
    receptor (BCR) signaling requires a tight regulation of several protein tyrosine kinases and phosphatases, and
    associated coreceptors. Binding of antigen to the B-cell antigen receptor (BCR) triggers signaling that
    ultimately leads to B-cell activation. 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. Specifically binds and phosphorylates CD79A at 'Tyr-188'and
    'Tyr-199', as well as CD79B at 'Tyr-196' and 'Tyr-207'. Phosphorylates also the immunoglobulin G receptors
    FCGR2A, FCGR2B and FCGR2C. With FYN and LYN, plays an essential role in pre-B-cell receptor (pre-BCR)-mediated
    NF-kappa-B activation. Contributes also to BTK activation by indirectly stimulating BTK intramolecular
    autophosphorylation. 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
    Catalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate
    Enzyme regulation: Antibody-mediated surface engagement of the B-cell antigen receptor (BCR) which results in the
    phosphorylation of BLK on tyrosine residues, stimulates the enzymatic activity (By similarity)
    Induction: Expression is under the control of NF-kappa-B as well as the B-cell specific transcription factors PAX5
    and EBF1

         Genatlas biochemistry entry for BLK:
    lymphoid non receptor tyrosine kinase (58kDa),homologous to mouse Blk,SRC family

         Enzyme Number (IUBMB): EC 2.7.10.21 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004672protein kinase activity ----
    GO:0004713protein tyrosine kinase activity TAS7845672
    GO:0004715non-membrane spanning protein tyrosine kinase activity IDA876631
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
         
    BLK for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for BLK:
     Decreased focal adhesion (FA)   Decreased substrate adherent c  Increased viability with TRAIL 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Blk):
     hematopoietic system  immune system  normal 

    BLK for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Blktm1Tara for BLK

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for BLK
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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BLK

    miRNA
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    GenScript: all cDNA clones in your preferred vector: BLK (NM_001715)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat BLK

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BLK_HUMAN, P51451: Cell membrane; Lipid-anchor (By similarity). Note=Present and active in lipid rafts.
    Membrane location is required for the phosphorylation of CD79A and CD79B (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol3
    mitochondrion2
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--

    BLK for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for BLK About   (see all 22)  
    See pathways by source

    SuperPathContained pathways About
    1Downstream Signaling Events Of B Cell Receptor (BCR)
    Signaling by the B Cell Receptor (BCR)0.79
    2NF-KappaB Family Pathway
    NF-KappaB Family Pathway0.72
    3Focal adhesion
    Focal Adhesion0.65
    4Antigen Activates B Cell Receptor Leading to Generation of Second Messengers
    Antigen Activates B Cell Receptor Leading to Generation of Second Messengers0.47
    5Class I MHC mediated antigen processing and presentation
    Adaptive Immune System0.41

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for BLK
        PI3K Signaling in B-Lymphocyte
    NF-KappaB Family Pathway

    2 Cell Signaling Technology (CST) Pathways for BLK
        Lymphocyte Signaling
    Tyrosine Kinases / Adaptors

    Selected BioSystems Pathways for BLK (see all 15)
        Focal Adhesion
    Apoptosis Modulation and Signaling
    IL-7 Signaling Pathway
    B Cell Receptor Signaling Pathway
    Glypican 1 network


    1 Reactome Pathway for BLK
        Antigen activates B Cell Receptor (BCR) leading to generation of second messengers



    BLK for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for BLK
    Interactions:

        GeneGlobe Interaction Network for BLK

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for BLK (P514512, 3 ENSP000002590894) via UniProtKB, MINT, STRING, and/or I2D (see all 76)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ERBB2P046262, 3, ENSP000002695714MINT-74485 I2D: score=2 STRING: ENSP00000269571
    CBLP226812, 3, ENSP000002640334MINT-15657 I2D: score=2 STRING: ENSP00000264033
    EGFRP005332, 3, ENSP000002754934MINT-74484 I2D: score=2 STRING: ENSP00000275493
    PLCG2P168853, ENSP000003523364I2D: score=4 STRING: ENSP00000352336
    BCL2P104153, ENSP000003296234I2D: score=3 STRING: ENSP00000329623
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation ----
    GO:0018108peptidyl-tyrosine phosphorylation TAS7845672
    GO:0032024positive regulation of insulin secretion IMP19667185
    GO:0035556intracellular signal transduction TAS2404338
    GO:0050853B cell receptor signaling pathway IDA876631

    BLK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for BLK

    2 HMDB Compounds for BLK    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--

    6 Novoseek inferred chemical compound relationships for BLK gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 70 49 7845672 (2), 8226767 (2), 7524079 (2), 7514299 (2) (see all 30)
    phosphotyrosine 56.3 1 9219519 (1)
    digitonin 49 1 1506682 (1)
    imatinib 25.8 1 17093930 (1)
    phosphatidylinositol 22.5 1 1397843 (1)
    calcium 3.33 1 9881695 (1)



    BLK for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for BLK gene: 
    NM_001715.2  

    Unigene Cluster for BLK:

    B lymphoid tyrosine kinase
    Hs.146591  [show with all ESTs]
    Unigene Representative Sequence: AK131319
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000259089(uc003wty.3) ENST00000525389(uc003wtx.3) ENST00000529894
    ENST00000533828 ENST00000526778 ENST00000526097(uc003wua.3)
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      QuantiFast Probe-based Assays in human, mouse, rat BLK

    Additional mRNA sequence: 

    AK131319.1 AK313751.1 AL832875.1 BC004473.2 BC007371.2 BC018703.1 BC032413.1 BC038555.1 
    S76617.1 Z33998.1 

    10 DOTS entries:

    DT.453246  DT.100019437  DT.91707407  DT.91750791  DT.120648337  DT.40106270  DT.40310138  DT.95163770 
    DT.75131135  DT.91707406 

    Selected AceView cDNA sequences (see all 83):

    BC007371 BC018703 BM465722 BI224882 CR625422 AL832875 NM_001715 Z33998 
    BM458517 AW403850 AA465545 BX363873 CD693037 BC032413 BM458538 BI226522 
    AK131319 AU158887 AW406482 BF975433 BM455228 BX400483 BC004473 BF128871 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for BLK (see all 7)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12a · 12b ^ 13 ^ 14
    SP1:                    -           -                             -                                                     -                     
    SP2:                    -     -     -                             -                                                                           
    SP3:                                                                                                                                          
    SP4:                                                                                                                                          
    SP5:                                                                                      -                                                   


    ECgene alternative splicing isoforms for BLK

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    BLK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCGCGCCCCG
    BLK Expression
    About this image


    BLK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
     
     Tonsil (Hematopoietic System)
     
     Lymph (Hematopoietic System)
     
     Spleen (Hematopoietic System)
    BLK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BLK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.146591

    UniProtKB/Swiss-Prot: BLK_HUMAN, P51451
    Tissue specificity: Expressed in lymphatic organs, pancreatic islets, Leydig cells, striate ducts of salivary
    glands and hair follicles

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    QuantiFast Probe-based Assays in human, mouse, rat BLK
    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLK

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of chordates.

    Orthologs for BLK gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Blk1 , 5 B lymphoid kinase1, 5 84.97(n)1
    87.17(a)1
      14 (33.25 cM)5
    121431  NM_007549.21  NP_031575.21 
     633728375 
    chicken
    (Gallus gallus)
    Aves BLK1 B lymphoid tyrosine kinase 72.05(n)
    73.49(a)
      422035  XM_420040.4  XP_420040.4 
    lizard
    (Anolis carolinensis)
    Reptilia BLK6
    B lymphoid tyrosine kinase
    69(a)
    1 ↔ 1
    GL343551.1(369677-391282)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia blk1 B lymphoid tyrosine kinase 65.81(n)
    67.1(a)
      100496460  XM_002933604.2  XP_002933650.2 
    zebrafish
    (Danio rerio)
    Actinopterygii blk1 B lymphoid tyrosine kinase 67.25(n)
    69.13(a)
      567764  NM_001030220.1  NP_001025391.1 


    ENSEMBL Gene Tree for BLK (if available)
    TreeFam Gene Tree for BLK (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BLK gene
    FRK2  LCK2  LYN2  FGR2  PTK62  YES12  HCK2  ABL12  
    SRC2  FYN2  ABL22  SRMS2  
    Selected SIMAP similar genes for BLK using alignment to 3 protein entries:     BLK_HUMAN (see all proteins) (see all similar genes):
    HCK    LYN    YES1    c-fgr    FYN    FGR
    LCK    SRC    NCK2    ABL1    FRK    BRAF
    DKFZp686M05208    GRAP2    tec    TEC    FLT4    EPHA2

    BLK for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for BLK (see all 2418)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs557587361,2,,4
    C,Fpathogenic111629236(+) ACACCG/ACTATG 2 /T /A mis14Minor allele frequency- A:0.02CSA NA EU 5993
    rs789960931,2
    C--10284191(+) GTAAC-/AGAGAAG 1 -- int10--------
    rs355343301,2
    C--10319525(+) GTTGTAA/-ATTCT 1 -- int11Minor allele frequency- -:0.50NA 2
    rs342095401,2
    C--10321026(+) TTTAT-/AAAAAA 1 -- int12Minor allele frequency- A:0.25NA 4
    rs30290341,2
    C--10324073(+) agaaaA/Gaaaaa 1 -- int1 trp30--------
    rs344066221,2
    C--10348368(+) ACACA-/AACACA
            
    CACAC
    1 -- int10--------
    rs2004890611,2
    C--11352827(+) AGTAAC/GAGAAG 1 -- int10--------
    rs30290181,2
    C--11352828(+) ACAGA-/AG/GA 
            
    AGAAA
    1 -- int10--------
    rs58893711,2
    C--11353111(+) GGGAA-/GATTCC 1 -- int10--------
    rs347359871,2
    C--11358865(+) TTTTT-/TAACAC 1 -- int11Minor allele frequency- T:0.00NA 2

    HapMap Linkage Disequilibrium report for BLK (11351510 - 11422113 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for BLK:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2736606CNV Deletion23290073
    esv34097CNV Loss18971310
    nsv397436CNV Loss16902084
    nsv890358CNV Loss21882294
    dgv866n27CNV Gain19166990
    nsv520117CNV Gain19592680
    nsv523827CNV Gain19592680

    Human Gene Mutation Database (HGMD): BLK
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing BLK
    DNA2.0 Custom Variant and Variant Library Synthesis for BLK

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 191305   
    OMIM disorders: 613375  
    UniProtKB/Swiss-Prot: BLK_HUMAN, P51451
  • Maturity-onset diabetes of the young 11 (MODY11) [MIM:613375]: A form of diabetes that is characterized
    by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of
    age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for BLK (see all 30):    
    About MalaCards
    maturity-onset diabetes of the young type11    maturity-onset diabetes of the young, type 11    keratolytic winter erythema    maturity-onset diabetes of the young, type 1
    multifocal motor neuropathy    sle susceptibility    maturity-onset diabetes of the young    systemic scleroderma
    antiphospholipid syndrome    scleroderma    smallpox    pharyngitis
    kawasaki disease    rheumatic disease    lupus erythematosus    pancreatitis
    systemic lupus erythematosus    cutaneous t cell lymphoma    neuropathy    ulcerative colitis

    1 disease from the University of Copenhagen DISEASES database for BLK:
    Systemic lupus erythematosus

    BLK for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for BLK gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lupus erythematosus systemic 33.6 2 19180478 (1)
    lymphoma 14.1 2 8349295 (1), 19351960 (1)
    necrosis 0 1 16907856 (1)

    Genetic Association Database (GAD): BLK
    Human Genome Epidemiology (HuGE) Navigator: BLK (20 documents)
    Tumor Gene Database (TGDB): BLK

    Export disorders for BLK gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for BLK gene, integrated from 10 sources (see all 109):
    (articles sorted by number of sources associating them with BLK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning and chromosomal localization of the human homologue of a B-lymphocyte specific protein tyrosine kinase (blk). (PubMed id 7845672)1, 2, 3, 9 Drebin J.A....Niederhuber J.E. (Oncogene 1995)
    2. Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. (PubMed id 19667185)1, 2, 9 Borowiec M.... Doria A. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    3. In vivo and in vitro specificity of protein tyrosine kinases for immunoglobulin G receptor (FcgammaRII) phosphorylation. (PubMed id 8756631)1, 2, 9 Bewarder N.... Frey J. (Mol. Cell. Biol. 1996)
    4. Replication of the association between the C8orf13-BLK region and systemic lupus erythematosus in a Japanese population. (PubMed id 19180478)1, 4, 9 Ito I....Tsuchiya N. (Arthritis Rheum. 2009)
    5. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. (PubMed id 18204098)1, 4, 9 Hom G....Behrens T.W. (N. Engl. J. Med. 2008)
    6. Molecular cloning, characterization, and chromosomal localization of a human lymphoid tyrosine kinase related to murine Blk. (PubMed id 7822795)1, 2, 9 Islam K.B.... Smith C.I. (J. Immunol. 1995)
    7. Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients. (PubMed id 20881011)1, 4 Webb R....Sawalha A.H. (Ann. Rheum. Dis. 2011)
    8. Genome-wide association study of rheumatoid arthritis in Koreans: population-specific loci as well as overlap with European susceptibility loci. (PubMed id 21452313)1, 4 Freudenberg J....Bae S.C. (Arthritis Rheum. 2011)
    9. A targeted association study in systemic lupus erythematosus identifies multiple susceptibility alleles. (PubMed id 20962850)1, 4 Budarf M.L....Rioux J.D. (Genes Immun. 2011)
    10. Role of the C8orf13-BLK region in biopsy-proven giant cell arteritis. (PubMed id 20156505)1, 4 Torres O....Gonzalez-Gay M.A. (Hum. Immunol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 640 HGNC: 1057 AceView: BLK Ensembl:ENSG00000136573 euGenes: HUgn640
    ECgene: BLK H-InvDB: BLK

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for BLK Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BLK Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for BLK gene:
    Search GeneIP for patents involving BLK

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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