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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BLK Gene

protein-coding   GIFtS: 72
GCID: GC08P011388

B lymphoid tyrosine kinase

 Explore 17 diseases affiliated with
BLK via our new
 Human Malady Compendium 
Biological research products
for BLK
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
B Lymphoid Tyrosine Kinase1 2     MODY112 5
B Lymphocyte Kinase2 3     MGC104421
P55-Blk1     BLK Nonreceptor Tyrosine Kinase2
EC 2.7.10.23 8     Tyrosine-Protein Kinase Blk2

External Ids:    HGNC: 10571   Entrez Gene: 6402   Ensembl: ENSG000001365737   OMIM: 1913055   UniProtKB: P514513   
ORGUL members:         
NONCODE:n341420    

Export aliases for BLK gene to outside databases

Previous GC identifers: GC08P011414 GC08P011222 GC08P010282


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BLK:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_077531.4  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BLK gene promoter:
         TBP   Spz1   AML1a   
         Other transcription factors

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

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: 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)
Secondary accessions: Q16291 Q96IN1

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P51451

  • 4/15 DME Specific Peptides for BLK (P51451) (see all 15)
     KWTAPEA  DMSAQIA  FLIRESE  DFYTATE 

    BLK Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_001706.2  
    ENSEMBL proteins: 
     ENSP00000259089   ENSP00000433663   ENSP00000433150  
    Reactome Protein details: P51451
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for BLK
    Uscn Proteins for BLK

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


    BLK for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for BLK


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    BLK for domains           About GeneDecksing

    5/7 InterPro domains/families (see all 7):
     IPR017441 Protein_kinase_ATP_BS
     IPR001245 Ser-Thr/Tyr_kinase_cat_dom
     IPR011009 Kinase-like_dom
     IPR000980 SH2
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry P51451

    ProtoNet protein and cluster: P51451

    3 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    Inhib. RNA
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    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:0005524ATP binding IEA--


    BLK for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Blktm1Tara for BLK
         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Blk):
     cellular  hematopoietic system  immune system  normal 

    BLK for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/22 super-pathways (see all 22About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Immune System
    Immune System1.00
    Adaptive Immune System0.59
    2Assembly of Signalosomes at the Activated BCR
    Antigen Activates B Cell Receptor Leading to Generation of Second Messengers0.78
    Phosphorylation of ITAMs of Ig-alpha (CD79A) and Ig-beta (CD79B)0.45
    3Tyrosine Kinases / Adaptors
    Tyrosine Kinases / Adaptors1.00
    4Lymphocyte Signaling
    Lymphocyte Signaling1.00
    5Signaling by the B Cell Receptor (BCR)
    Signaling by the B Cell Receptor (BCR)1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN 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

    5/15 BioSystems Pathways for BLK (see all 15
        Apoptosis Modulation and Signaling
    Focal Adhesion
    IL-7 Signaling Pathway
    B Cell Receptor Signaling Pathway
    Ephrin B reverse signaling

    5        Reactome Pathways for BLK
        Phosphorylation of ITAMs of Ig-alpha (CD79A) and Ig-beta (CD79B)
    Antigen Activates B Cell Receptor Leading to Generation of Second Messengers
    Adaptive Immune System
    Immune System
    Signaling by the B Cell Receptor (BCR)



    BLK for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BLK

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

    5/70 Interacting proteins for BLK (P514512, 3 ENSP000002590894) via UniProtKB, MINT, STRING, and/or I2D (see all 70)
    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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007243intracellular protein kinase cascade TAS2404338
    GO:0032024positive regulation of insulin secretion IMP19667185
    GO:0050853B cell receptor signaling pathway IDA876631


    BLK for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BLK for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    Search CenterWatch for drugs/clinical trials and news about BLK 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000259089(uc003wty.3) ENST00000525389(uc003wtx.3) ENST00000529894
    ENST00000533828 ENST00000526778 ENST00000525206 ENST00000526097(uc003wua.3)


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    Additional cDNA 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 

    24/83 AceView cDNA sequences (see all 83):

    NM_001715 BM465722 CR625422 BC018703 BI224882 AL832875 BC007371 BI521453 
    BC032413 BI908955 AW406482 BP340291 BM458538 AU158887 AU141286 BI521532 
    BQ708155 BG340510 BQ049022 BM465077 BG388319 BC004473 BG177324 BQ066207 

    GeneLoc Exon Structure

    5/7 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BLK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCGCGCCCCG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See BLK Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BLK

    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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    In Situ
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    (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

    This gene was present in the common ancestor of animals.

    Orthologs for BLK gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves BLK1 B lymphoid tyrosine kinase 73.45(n)
    75.57(a)
      422035  XM_420040.3  XP_420040.3 
    lizard
    (Anolis carolinensis)
    Reptilia BLK6
    --
    69(a)
    1 ↔ 1
    GL343551.1(369677-391009)
    zebrafish
    (Danio rerio)
    Actinopterygii blk1 B lymphoid tyrosine kinase 67.32(n)
    69.13(a)
      567764  NM_001030220.1  NP_001025391.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Src64B3 ring canal formation protein tyrosine kinase 51(a)   64B12   --
    worm
    (Caenorhabditis elegans)
    Secernentea src-13 Expression: vulva, anus, mu_bod, pharyngeal
    muscle, more
    43(a)
    (best of 3)
      I(1567610-1580076)   --


    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)
    About This Section
    Paralogs for BLK gene
    TEC2  FRK2  LCK2  FGR2  ITK2  LYN2  TXK2  HCK2  
    YES12  PTK62  SRC2  ABL12  FYN2  BMX2  ABL22  SRMS2  
    BTK2  
    18/73 SIMAP similar genes for BLK using alignment to 4 protein entries:     BLK_HUMAN (see all proteins) (see all similar genes):
    LYN    YES1    c-fgr    LCK    HCK    FGR
    FYN    SRC    NCK2    ABL1    FRK    BRAF
    DKFZp686M05208    GRAP2    tec    TEC    FLT4    SLA2

    BLK for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2075 NCBI SNPs in BLK are shown (see all 2075    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs557587361,2
    C,F,pathogenic11639653(+) ACACCG/ACTATG 2 /T /A mis14Minor allele frequency- A:0.02CSA NA EU 5993
    rs735377291,2
    C,--10281314(+) TCTAAC/GCTTGG 1 -- us2k12Minor allele frequency- G:0.25WA 120
    rs766104941,2
    F,--10281879(+) AAGCTC/TGCAGA 1 -- us2k12Minor allele frequency- T:0.02WA NA 238
    rs14789021,2
    F,H,--10282138(+) TCCATT/GTATTC 1 -- us2k15Minor allele frequency- G:0.01NS EA WA 538
    rs30215191,2
    H--10282956(+) AGGGCA/CAATTA 1 -- ut514Minor allele frequency- C:0.00NS EA 420
    rs769918791,2
    F,--10283578(+) ACAGAC/TGGAGG 1 -- int11Minor allele frequency- T:0.03WA 118
    rs132720611,2
    C,F,H,--10283625(+) AGATTG/TCTCCA 1 -- int113Minor allele frequency- T:0.23NA NS EA WA 806
    rs46186571,2
    H--10283663(+) TTTTTA/TATTTA 1 -- int14Minor allele frequency- T:0.00NS EA 410
    rs286580251,2
    F,--10283769(+) TGAGCG/AGGCAC 1 -- int11Minor allele frequency- A:0.04WA 118
    rs786990641,2
    F,--10283800(+) CCCGGC/TGAGTC 1 -- int11Minor allele frequency- T:0.09WA 118

    HapMap Linkage Disequilibrium report for BLK (11351510 - 11422113 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 19 variations for BLK
         3 CNVs: 6592 47971 53411
         15/16 Inversions (see all 16): 37318 37316 37307 37317 37311 37319 37320 37315 37312 37321 37304 37313 37314 37305 37306
    Human Gene Mutation Database (HGMD): BLK

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    BLK for disorders           About GeneDecksing

    OMIM gene information: 191305   
    OMIM disorders: 613375  
    UniProtKB/Swiss-Prot: BLK_HUMAN, P51451
  • Defects in BLK are a cause of maturity-onset diabetes of the young type 11 (MODY11) [MIM:613375]. MODY11 is 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

    17 diseases for BLK:    About MalaCards
    maturity-onset diabetes of the young, type 11    maturity-onset diabetes of the young    keratolytic winter erythema    pancreatitis
    sle susceptibility    lupus erythematosus    b-cell lymphomas    systemic lupus erythematosus
    systemic scleroderma    antiphospholipid syndrome    ulcerative colitis    cutaneous t cell lymphoma
    rheumatoid arthritis    scleroderma    arthritis    pharyngitis
    leukemia

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

    3 Novoseek 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)

    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)
    About This Section

    PubMed articles for BLK gene, integrated from 9 sources (see all 94):
    (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. (1995)
    2. Mutations at the BLK locus linked to maturity onset d iabetes of the young and beta-cell dysfunction. (PubMed id 19667185)1, 2, 9 Borowiec M....Doria 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. (1996)
    4. 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. (1995)
    5. The protein product of the c-cbl protooncogene is the 120-kDa tyrosine-phosphorylated protein in Jurkat cells activated via the T cell antigen receptor. (PubMed id 8083187)1, 2 Donovan J.A....Samelson L.E. (1994)
    6. Ectopic expression of B-lymphoid kinase in cutaneous T-cell lymphoma. (PubMed id 19351960)1, 9 Krejsgaard T....A9dum N. (2009)
    7. Blk, a BH3-containing mouse protein that interacts with Bcl-2 and Bcl-xL, is a potent death agonist. (PubMed id 9525867)1, 9 Hegde R....Alnemri E.S. (1998)
    8. Reconstitution of the B cell antigen receptor signaling components in COS cells. (PubMed id 7592958)1, 9 Saouaf S.J....Mahajan S. (1995)
    9. Transcription of the blk gene in human B lymphocytes is controlled by two promoters. (PubMed id 7592787)1, 9 Lin Y.H....Niederhuber J.E. (1995)
    10. Isoforms of the Ets transcription factor NERF/ELF-2 physically interact with AML1 and mediate opposing effects on AML1-mediated transcription of the B cell-specific blk gene. (PubMed id 14970218)1, 9 Cho J.-Y.... Libermann T.A. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 640 HGNC: 1057 AceView: BLK Ensembl:ENSG00000136573 euGenes: HUgn640
    ECgene: BLK H-InvDB: BLK

    (According to HUGE)
    About This Section
      --

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



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    About This Section

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