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BLNK Gene

protein-coding   GIFtS: 68
GCID: GC10M097941

B-Cell Linker

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

Quality score for the ORGUL clustered with this gene is 3

Aliases
B-Cell Linker1 2     B-Cell Adapter Containing A Src Homology 2 Domain Protein2 3
B-Cell Adapter Containing A SH2 Domain Protein1 2 3     Src Homology 2 Domain-Containing Leukocyte Protein Of 65 KDa2 3
SLP652 3 5     AGM42 5
B Cell Adaptor Containing SH2 Domain1 2     BLNK-S2
B-Cell Activation1 2     LY572
Src Homology [SH2] Domain-Containing Leukocyte Protein Of 65 KD1 2     B Cell Linker Protein2
Cytoplasmic Adapter Protein2 3     B-Cell Linker Protein2
BASH2 3     bca2
SLP-652 3     

External Ids:    HGNC: 142111   Entrez Gene: 297602   Ensembl: ENSG000000955857   OMIM: 6045155   UniProtKB: Q8WV283   
ORGUL members:         

Export aliases for BLNK gene to outside databases

Previous GC identifers: GC10M096844 GC10M097184 GC10M098082 GC10M097616 GC10M091579


(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 BLNK Gene:
This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This
protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby
affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this
protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene
cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is
developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute
lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. (provided by
RefSeq, May 2012)

GeneCards Summary for BLNK Gene:
BLNK (B-cell linker) is a protein-coding gene. Diseases associated with BLNK include agammaglobulinemia 4, and anthrax disease. GO annotations related to this gene include SH3/SH2 adaptor activity and transmembrane receptor protein tyrosine kinase adaptor activity. An important paralog of this gene is LCP2.

UniProtKB/Swiss-Prot: BLNK_HUMAN, Q8WV28
Function: Functions as a central linker protein, downstream of the B-cell receptor (BCR), bridging the SYK kinase
to a multitude of signaling pathways and regulating biological outcomes of B-cell function and development. Plays
a role in the activation of ERK/EPHB2, MAP kinase p38 and JNK. Modulates AP1 activation. Important for the
activation of NF-kappa-B and NFAT. Plays an important role in BCR-mediated PLCG1 and PLCG2 activation and Ca(2+)
mobilization and is required for trafficking of the BCR to late endosomes. However, does not seem to be required
for pre-BCR-mediated activation of MAP kinase and phosphatidyl-inositol 3 (PI3) kinase signaling. May be required
for the RAC1-JNK pathway. Plays a critical role in orchestrating the pro-B cell to pre-B cell transition. May
play an important role in BCR-induced B-cell apoptosis

Gene Wiki entry for BLNK (B-cell linker) 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 at NCBI GenBank:
NC_000010.10  NC_018921.2  NT_030059.14  
Regulatory elements:
   Regulatory transcription factor binding sites in the BLNK gene promoter:
         IRF-2   AP-1   p53   RREB-1   ATF-2   Olf-1   c-Jun   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBLNK promoter sequence
   Search Chromatin IP Primers for BLNK

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


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

Entrez Gene cytogenetic band: 10q23.2-q23.33   Ensembl cytogenetic band:  10q24.1   HGNC cytogenetic band: 10q23.2-q23.33

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

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M097941:  view genomic region     (about GC identifiers)

Start:
97,951,455 bp from pter      End:
98,031,344 bp from pter
Size:
79,890 bases      Orientation:
minus 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: BLNK_HUMAN, Q8WV28 (See protein sequence)
Recommended Name: B-cell linker protein  
Size: 456 amino acids; 50466 Da
Subunit: Associates with PLCG1, VAV1 and NCK1 in a B-cell antigen receptor-dependent fashion. Interacts with VAV3,
PLCG2 and GRB2. Interacts through its SH2 domain with CD79A. Interacts (via SH2 domain) with SYK; phosphorylated
and activated by SYK. Interacts with SCIMP
Secondary accessions: O75498 O75499 Q2MD49
Alternative splicing: 3 isoforms:  Q8WV28-1   Q8WV28-2   Q8WV28-3   

Explore the universe of human proteins at neXtProt for BLNK: NX_Q8WV28

Explore proteomics data for BLNK at MOPED

Post-translational modifications: 

  • Following BCR activation, phosphorylated on tyrosine residues by SYK and LYN. When phosphorylated, serves as a
    scaffold to assemble downstream targets of antigen activation, including PLCG1, VAV1, GRB2 and NCK1.
    Phosphorylation of Tyr-84, Tyr-178 and Tyr-189 facilitates PLCG1 binding. Phosphorylation of Tyr-96 facilitates
    BTK binding. Phosphorylation of Tyr-72 facilitates VAV1 and NCK1 binding. Phosphorylation is required for both
    Ca(2+) and MAPK signaling pathways1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See BLNK Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001107566.1  NP_001245369.1  NP_001245370.1  NP_001245371.1  NP_037446.1  

    ENSEMBL proteins: 
     ENSP00000224337   ENSP00000360218   ENSP00000466331   ENSP00000465741   ENSP00000391924  
     ENSP00000397487  
    Reactome Protein details: Q8WV28

    BLNK Human Recombinant Protein Products:

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    (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

    1 InterPro protein domain:
     IPR000980 SH2

    Graphical View of Domain Structure for InterPro Entry Q8WV28

    ProtoNet protein and cluster: Q8WV28

    1 Blocks protein domain: IPB000980 SH2 domain signature

    UniProtKB/Swiss-Prot: BLNK_HUMAN, Q8WV28
    Similarity: Contains 1 SH2 domain


    Find genes that share domains with BLNK           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BLNK_HUMAN, Q8WV28
    Function: Functions as a central linker protein, downstream of the B-cell receptor (BCR), bridging the SYK kinase
    to a multitude of signaling pathways and regulating biological outcomes of B-cell function and development. Plays
    a role in the activation of ERK/EPHB2, MAP kinase p38 and JNK. Modulates AP1 activation. Important for the
    activation of NF-kappa-B and NFAT. Plays an important role in BCR-mediated PLCG1 and PLCG2 activation and Ca(2+)
    mobilization and is required for trafficking of the BCR to late endosomes. However, does not seem to be required
    for pre-BCR-mediated activation of MAP kinase and phosphatidyl-inositol 3 (PI3) kinase signaling. May be required
    for the RAC1-JNK pathway. Plays a critical role in orchestrating the pro-B cell to pre-B cell transition. May
    play an important role in BCR-induced B-cell apoptosis

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005068transmembrane receptor protein tyrosine kinase adaptor activity TAS9697839
    GO:0005070SH3/SH2 adaptor activity RCA19641626
    GO:0005515protein binding IPI16912232
         
    Find genes that share ontologies with BLNK           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for BLNK:
     Increased circadian rhythm amp  Increased gamma-H2AX phosphory 

         6 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Blnk):
     cardiovascular system  cellular  hematopoietic system  immune system  mortality/aging 
     tumorigenesis 

    Find genes that share phenotypes with BLNK           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for BLNK: Blnktm1Achn Blnktm1Pjln Blnktm1Dkit Blnktm1Kplm

       genOway: Develop your customized and physiologically relevant rodent model for BLNK

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    2 qRT-PCR Assays for microRNAs that regulate BLNK:
    hsa-miR-616* hsa-miR-373*
    SwitchGear 3'UTR luciferase reporter plasmidBLNK 3' UTR sequence
    Inhib. RNA
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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
    BLNK_HUMAN, Q8WV28: Cytoplasm. Cell membrane. Note=BCR activation results in the translocation to membrane
    fraction
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytosol4
    nucleus2
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular NAS9341187
    GO:0005829cytosol TAS--
    GO:0005886plasma membrane TAS--

    Find genes that share ontologies with BLNK           About GenesLikeMe


    (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 BLNK About   (see all 19)  
    See pathways by source

    SuperPathContained pathways About
    1B cell receptor signaling pathway (KEGG)
    B cell receptor signaling pathway0.42
    BCR signaling pathway0.42
    2Signaling by Interleukins
    Interleukin-3, 5 and GM-CSF signaling0.59
    Regulation of signaling by CBL0.00
    Signaling by Interleukins0.42
    3Fc-GammaR Pathway
    Fc-Gamma-RIIB Signaling in B-Cells0.55
    Fc-GammaR Pathway0.55
    4Immune response Fc epsilon RI pathway
    Immune response Fc epsilon RI pathway0.43
    Immune response BCR pathway0.43
    5Downstream Signaling Events Of B Cell Receptor (BCR)
    Signaling by the B Cell Receptor (BCR)0.79


    Find genes that share SuperPaths with BLNK           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for BLNK
        Pathogen or Damage-activated C-Type Lectin Receptor Signaling Pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for BLNK
        Fc-Gamma-RIIB Signaling in B-Cells
    Fc-GammaR Pathway
    Phospholipase-C Pathway
    PI3K Signaling in B-Lymphocyte
    NFAT in Immune Response

    1 Cell Signaling Technology (CST) Pathway for BLNK
        Lymphocyte Signaling

    4 GeneGo (Thomson Reuters) Pathways for BLNK
        Immune response Fc epsilon RI pathway
    G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
    Immune response BCR pathway
    Immune response NFAT in immune response

    2 BioSystems Pathways for BLNK
        B Cell Receptor Signaling Pathway
    BCR signaling pathway


    2 Reactome Pathways for BLNK
        Regulation of signaling by CBL
    Antigen activates B Cell Receptor (BCR) leading to generation of second messengers


    4 Kegg Pathways  (Kegg details for BLNK):
        NF-kappa B signaling pathway
    Osteoclast differentiation
    B cell receptor signaling pathway
    Primary immunodeficiency

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BLNK: 
              T-cell & B-cell Activation in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Hematopoiesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for BLNK

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

    Selected Interacting proteins for BLNK (Q8WV281, 2, 3 ENSP000002243374) via UniProtKB, MINT, STRING, and/or I2D (see all 75)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    GRB2P629931, 2, 3, ENSP000003390074EBI-2623522,EBI-401755 MINT-7144603 MINT-8287491 MINT-59467 MINT-7144594 MINT-7144559 I2D: score=6 STRING: ENSP00000339007
    CD2APQ9Y5K61, 2, ENSP000003522644EBI-2623522,EBI-298152 MINT-8287491 MINT-8287967 STRING: ENSP00000352264
    SH3KBP1Q96B972, 3, ENSP000003809214MINT-8328032 I2D: score=4 STRING: ENSP00000380921
    PLCG2P168852, 3, ENSP000003523364MINT-8287491 I2D: score=3 STRING: ENSP00000352336
    SYKP434052, 3, ENSP000003648984MINT-6621148 I2D: score=3 STRING: ENSP00000364898
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006954inflammatory response TAS9697839
    GO:0006959humoral immune response TAS9697839
    GO:0007169transmembrane receptor protein tyrosine kinase signaling pathway TAS9697839
    GO:0009967positive regulation of signal transduction RCA19641626
    GO:0030183B cell differentiation NAS10583958

    Find genes that share ontologies with BLNK           About GenesLikeMe



    (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 BLNK

    4 Novoseek inferred chemical compound relationships for BLNK gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tyrosine 60.3 25 11449366 (2), 9697839 (2), 18369315 (2), 10498607 (2) (see all 19)
    phosphoinositide 27.3 1 12780340 (1)
    calcium 22.4 6 10224286 (1), 16888096 (1), 10498607 (1), 10993287 (1) (see all 5)
    h2o2 2.88 4 11813980 (2), 11434777 (1)



    Find genes that share compounds with BLNK           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for BLNK gene (5 alternative transcripts): 
    NM_001114094.1  NM_001258440.1  NM_001258441.1  NM_001258442.1  NM_013314.3  

    Unigene Cluster for BLNK:

    B-cell linker
    Hs.665244  [show with all ESTs]
    Unigene Representative Sequence: AK225546
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000224337(uc001kls.4 uc001kmb.4 uc001kmd.4) ENST00000371176(uc001kme.4 uc001klt.4 uc009xvc.3 uc001klx.4 uc001klz.4 uc009xvd.3)
    ENST00000485193 ENST00000467799 ENST00000468252 ENST00000472763 ENST00000495266
    ENST00000427367 ENST00000413476(uc001klu.4 uc001klv.4 uc001klw.4 uc001kly.4 uc001kma.4 uc001kmc.4)

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    Additional mRNA sequence: 

    AF068180.1 AF068181.1 AK027779.1 AK225546.1 AM180327.1 AM180328.1 AM180329.1 AM180330.1 
    AM180331.1 AM180332.1 AM180333.1 AM180334.1 AM180336.1 AM180337.1 BC018906.2 NR_047680.1 
    NR_047681.1 NR_047682.1 NR_047683.1 

    7 DOTS entries:

    DT.91758873  DT.108126  DT.100744655  DT.121287536  DT.95138907  DT.100015816  DT.95367378 

    Selected AceView cDNA sequences (see all 63):

    AW129258 AI811831 BX389613 AI500068 BX325246 AI242506 BM128686 CR598772 
    BX389614 AL699107 NM_013314 BC018906 AA931361 AA772748 AI307343 BQ272206 
    AA831869 BX325247 BI911527 AI830988 BM128448 CD697835 AF068181 BM821732 

    GeneLoc Exon Structure


    (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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    BLNK expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTACTAATAT
    BLNK Expression
    About this image


    BLNK expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 8) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Mature B-Cells Peripheral Blood
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
     
     Kidney (Urinary System)
             Ureteric Bud Cells Ureteric Bud
     
     Pancreas (Endocrine System)
             Duct Cells Pancreatic Ducts
     
     Brain (Nervous System)
             Cerebral Cortex
    BLNK Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    BLNK Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.665244

    UniProtKB/Swiss-Prot: BLNK_HUMAN, Q8WV28
    Tissue specificity: Expressed in B-cell lineage and fibroblast cell lines (at protein level). Highest levels of
    expression in the spleen, with lower levels in the liver, kidney, pancreas, small intestines and colon

        Pathway & Disease-focused RT2 Profiler PCR Arrays including BLNK: 
              T-cell & B-cell Activation in human mouse rat
              Inflammatory Response & Autoimmunity 384HT in human mouse rat
              Hematopoiesis in human mouse rat

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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for BLNK gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Blnk1 , 5 B cell linker1, 5 83.41(n)1
    85.75(a)1
      19 (34.26 cM)5
    170601  NM_008528.41  NP_032554.21 
     409289275 
    chicken
    (Gallus gallus)
    Aves BLNK1 B-cell linker 69.31(n)
    62.53(a)
      395733  NM_204908.1  NP_990239.1 
    lizard
    (Anolis carolinensis)
    Reptilia BLNK6
    B-cell linker
    42(a)
    1 ↔ 1
    GL343262.1(1237998-1388590)
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3983282 adaptor protein BLNK 73.31(n)    AY121371.1 
    zebrafish
    (Danio rerio)
    Actinopterygii blnk1 B-cell linker 57.49(n)
    61.74(a)
      405764  NM_212838.1  NP_998003.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for BLNK gene
    LCP22  CLNK2  SH2D62  
    1 SIMAP similar gene for BLNK using alignment to 3 protein entries:     BLNK_HUMAN (see all proteins):
    BASH

    Find genes that share paralogs with BLNK           About GenesLikeMe



    (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 BLNK (see all 1804)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs670508601,2
    C--91592719(+) TCTAC-/TTGCCATG 9 -- int10--------
    rs38415931,2
    C--91614884(-) AACAA-/ACAA  
            
    CAAAC
    9 -- int10--------
    rs667813251,2
    C--91621247(+) CACCA-/CCGACT 9 -- int12Minor allele frequency- C:0.25NA 4
    rs710343641,2
    C--97954525(-) GTCTC-/A/A   
       AAAAA
    AAAAA
    14 -- int1 cds12NA 4
    rs713068101,2
    C--97957670(-) TTTTT-/T/TT  
            
    TGATG
    9 -- int11NA 2
    rs115948621,2
    C,F,H--97961494(+) TATCtG/Acattc 9 -- int115Minor allele frequency- A:0.09NS EA NA WA 1870
    rs359652591,2
    C--97961494(+) TATCT-/CA    
       TT
    /GC
    ATTCA
    9 -- int10--------
    rs594280571,2
    C--97961495(+) CATTC-/ATT   
      C
    /CATT
    TTGTT
    9 -- int10--------
    rs558777911,2
    C--97963551(+) AAAAA-/A/AA  
            
    GTTAA
    9 -- int11NA 2
    rs30318361,2
    C--97969130(+) TTATT-/TATT  
            
    CATTT
    9 -- int10--------

    HapMap Linkage Disequilibrium report for BLNK (97951455 - 98031344 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for BLNK:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2739773CNV Deletion23290073
    esv2661927CNV Deletion23128226
    esv2739762CNV Deletion23290073
    dgv29n17CNV Loss16327808
    nsv831949CNV Gain17160897
    nsv831947CNV Gain+Loss17160897

    Human Gene Mutation Database (HGMD): BLNK
    Locus Specific Mutation Databases (LSDB): BLNK

    Site Specific Mutation Identification with 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.)
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    OMIM gene information: 604515   
    OMIM disorders: 613502  
    UniProtKB/Swiss-Prot: BLNK_HUMAN, Q8WV28
  • Agammaglobulinemia 4, autosomal recessive (AGM4) [MIM:613502]: A primary immunodeficiency characterized
    by profoundly low or absent serum antibodies and low or absent circulating B cells due to an early block of
    B-cell development. Affected individuals develop severe infections in the first years of life. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 6 diseases for BLNK:    
    About MalaCards
    agammaglobulinemia 4    anthrax disease    congenital hypogammaglobulinemia    agammaglobulinemia 3
    agammaglobulinemia    lymphoblastic leukemia

    3 diseases from the University of Copenhagen DISEASES database for BLNK:
    Agammaglobulinemia     Anthrax disease     Congenital hypogammaglobulinemia

    Find genes that share disorders with BLNK           About GenesLikeMe

    5 Novoseek inferred disease relationships for BLNK gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    lymphoblastic leukemia acute 42.6 7 15029213 (1), 19047679 (1), 16568084 (1), 16912232 (1)
    leukemia 37.7 13 19047679 (2), 12761551 (2), 16300960 (1), 19018766 (1) (see all 6)
    tumors 8.79 15 16300960 (2), 19047679 (1), 16912232 (1), 14981539 (1) (see all 10)
    necrosis 0 5 10206649 (1), 15485859 (1), 14981539 (1), 17917053 (1)
    lymphoma 0 6 16568084 (4), 17717600 (1)

    Genetic Association Database (GAD): BLNK
    Human Genome Epidemiology (HuGE) Navigator: BLNK (4 documents)

    Export disorders for BLNK 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 BLNK gene, integrated from 10 sources (see all 119):
    (articles sorted by number of sources associating them with BLNK)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. BLNK: a central linker protein in B cell activation. (PubMed id 9697839)1, 2, 3, 9 Fu C.... Chan A.C. (Immunity 1998)
    2. An essential role for BLNK in human B cell development. (PubMed id 10583958)1, 2, 3 Minegishi Y.... Conley M.E. (Science 1999)
    3. Deficiency of BLNK hampers PLC-gamma2 phosphorylation and Ca2+ influx induced by the pre-B-cell receptor in human pre-B cells. (PubMed id 15270728)1, 2, 9 Taguchi T.... Fujimoto J. (Immunology 2004)
    4. Human SLP-65 isoforms contribute differently to activation and apoptosis of B lymphocytes. (PubMed id 16912232)1, 2, 9 Grabbe A. and Wienands J. (Blood 2006)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. SLP65 deficiency results in perpetual V(D)J recombinase activity in pre-B-lymphoblastic leukemia and B-cell lymphoma cells. (PubMed id 16636677)1, 2 Sprangers M....Muschen M. (Oncogene 2006)
    7. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    9. BLNK: molecular scaffolding through 'cis'-mediated organization of signaling proteins. (PubMed id 12456653)1, 2 Chiu C.W.... Chan A.C. (EMBO J. 2002)
    10. Identification of two tyrosine phosphoproteins, pp70 and pp68, which interact with phospholipase Cgamma, Grb2, and Vav after B cell antigen receptor activation. (PubMed id 9341187)1, 2 Fu C. and Chan A.C. (J. Biol. Chem. 1997)

    (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: 29760 HGNC: 14211 AceView: BLNK Ensembl:ENSG00000095585 euGenes: HUgn29760
    ECgene: BLNK Kegg: 29760 H-InvDB: BLNK

    (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)
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    NameDescription
    PharmGKB entry for BLNK Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BLNK Genetics and Cytogenetics in Oncology and Haematology
    BLNKbasehttp://bioinf.uta.fi/BLNKbase/

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

    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, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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