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Aliases for BLNK Gene

Aliases for BLNK Gene

  • B-Cell Linker 2 3
  • B-Cell Adapter Containing A SH2 Domain Protein 2 3 4
  • SLP65 3 4 6
  • Src Homology [SH2] Domain-Containing Leukocyte Protein Of 65 KD 2 3
  • Src Homology 2 Domain-Containing Leukocyte Protein Of 65 KDa 3 4
  • B-Cell Adapter Containing A Src Homology 2 Domain Protein 3 4
  • B Cell Adaptor Containing SH2 Domain 2 3
  • Cytoplasmic Adapter Protein 3 4
  • B-Cell Activation 2 3
  • SLP-65 3 4
  • AGM4 3 6
  • BASH 3 4
  • B Cell Linker Protein 3
  • B-Cell Linker Protein 3
  • BLNK-S 3
  • LY57 3
  • Bca 3

External Ids for BLNK Gene

Previous GeneCards Identifiers for BLNK Gene

  • GC10M096844
  • GC10M097184
  • GC10M098082
  • GC10M097616
  • GC10M097941
  • GC10M091579

Summaries for BLNK Gene

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. Among its related pathways are Downstream Signaling Events Of B Cell Receptor (BCR) and Class I MHC mediated antigen processing and presentation. 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 for BLNK Gene

  • 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 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BLNK Gene

Genomics for BLNK Gene

Regulatory Elements for BLNK Gene

Genomic Location for BLNK Gene

Start:
96,191,699 bp from pter
End:
96,271,587 bp from pter
Size:
79,889 bases
Orientation:
Minus strand

Genomic View for BLNK Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for BLNK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BLNK Gene

Proteins for BLNK Gene

  • Protein details for BLNK Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WV28-BLNK_HUMAN
    Recommended name:
    B-cell linker protein
    Protein Accession:
    Q8WV28
    Secondary Accessions:
    • O75498
    • O75499
    • Q2MD49

    Protein attributes for BLNK Gene

    Size:
    456 amino acids
    Molecular mass:
    50466 Da
    Quaternary structure:
    • 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.

    Alternative splice isoforms for BLNK Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BLNK Gene

Proteomics data for BLNK Gene at MOPED

Post-translational modifications for BLNK Gene

  • 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 pathways.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BLNK Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for BLNK (BLNK)

No data available for DME Specific Peptides for BLNK Gene

Domains for BLNK Gene

Gene Families for BLNK Gene

HGNC:
  • SH2D :SH2 domain containing

Protein Domains for BLNK Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for BLNK Gene

Graphical View of Domain Structure for InterPro Entry

Q8WV28

UniProtKB/Swiss-Prot:

BLNK_HUMAN :
  • Q8WV28
Domain:
  • Contains 1 SH2 domain.
genes like me logo Genes that share domains with BLNK: view

Function for BLNK Gene

Molecular function for BLNK Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for BLNK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity TAS 9697839
GO:0005070 SH3/SH2 adaptor activity IDA 9697839
GO:0005515 protein binding IPI 16912232
genes like me logo Genes that share ontologies with BLNK: view
genes like me logo Genes that share phenotypes with BLNK: view

Animal Models for BLNK Gene

MGI Knock Outs for BLNK:

Animal Model Products

CRISPR Products

miRNA for BLNK Gene

miRTarBase miRNAs that target BLNK

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for BLNK Gene

Localization for BLNK Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLNK Gene

Cytoplasm. Cell membrane. Note=BCR activation results in the translocation to membrane fraction.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for BLNK Gene COMPARTMENTS Subcellular localization image for BLNK gene
Compartment Confidence
plasma membrane 5
cytosol 4
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for BLNK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular NAS 9341187
GO:0005737 cytoplasm IBA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with BLNK: view

Pathways for BLNK Gene

genes like me logo Genes that share pathways with BLNK: view

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Gene Ontology (GO) - Biological Process for BLNK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006954 inflammatory response TAS 9697839
GO:0006959 humoral immune response TAS 9697839
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway TAS 9697839
GO:0009967 positive regulation of signal transduction IDA 9697839
GO:0030183 B cell differentiation NAS 10583958
genes like me logo Genes that share ontologies with BLNK: view

Compounds for BLNK Gene

(4) Novoseek inferred chemical compound relationships for BLNK Gene

Compound -log(P) Hits PubMed IDs
tyrosine 60.3 23
phosphoinositide 27.3 1
calcium 22.4 5
h2o2 2.88 3
genes like me logo Genes that share compounds with BLNK: view

Transcripts for BLNK Gene

Unigene Clusters for BLNK Gene

B-cell linker:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for BLNK

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for BLNK Gene

No ASD Table

Relevant External Links for BLNK Gene

GeneLoc Exon Structure for
BLNK
ECgene alternative splicing isoforms for
BLNK

Expression for BLNK Gene

mRNA expression in normal human tissues for BLNK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for BLNK Gene

This gene is overexpressed in Spleen (5.3), Liver (4.4), and Esophagus - Mucosa (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for BLNK Gene

SOURCE GeneReport for Unigene cluster for BLNK Gene Hs.665244

mRNA Expression by UniProt/SwissProt for BLNK Gene

Q8WV28-BLNK_HUMAN
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
genes like me logo Genes that share expressions with BLNK: view

In Situ Assay Products

Orthologs for BLNK Gene

This gene was present in the common ancestor of chordates.

Orthologs for BLNK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BLNK 35
  • 99.49 (n)
  • 99.34 (a)
BLNK 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia BLNK 35
  • 88.3 (n)
  • 89.25 (a)
BLNK 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BLNK 35
  • 87.98 (n)
  • 88.72 (a)
BLNK 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Blnk 35
  • 83.41 (n)
  • 85.75 (a)
Blnk 16
Blnk 36
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 66 (a)
OneToMany
-- 36
  • 64 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia BLNK 36
  • 54 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Blnk 35
  • 83.41 (n)
  • 85.96 (a)
chicken
(Gallus gallus)
Aves BLNK 35
  • 69.31 (n)
  • 62.53 (a)
BLNK 36
  • 43 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia BLNK 36
  • 42 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398328 35
tropical clawed frog
(Silurana tropicalis)
Amphibia blnk 35
  • 57.5 (n)
  • 51.82 (a)
zebrafish
(Danio rerio)
Actinopterygii blnk 35
  • 57.49 (n)
  • 61.74 (a)
blnk 36
  • 38 (a)
OneToOne
Species with no ortholog for BLNK:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BLNK Gene

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

Paralogs for BLNK Gene

Paralogs for BLNK Gene

Selected SIMAP similar genes for BLNK Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with BLNK: view

Variants for BLNK Gene

Sequence variations from dbSNP and Humsavar for BLNK Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type MAF
rs727852 -- 96,230,827(+) TCAGC(A/G)GGGCT synonymous-codon, reference, nc-transcript-variant
rs736069 -- 96,209,037(+) TTTAC(A/G)GGGTG intron-variant
rs736070 -- 96,209,071(+) CAATC(C/G)TCACC intron-variant
rs747259 -- 96,207,513(+) ATCTG(A/G)GTTTA intron-variant
rs1007764 -- 96,224,555(+) TCTCA(G/T)CAGGT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BLNK Gene

Variant ID Type Subtype PubMed ID
nsv831947 CNV Gain+Loss 17160897
nsv831949 CNV Gain 17160897
dgv29n17 CNV Loss 16327808
esv2739762 CNV Deletion 23290073
esv2739773 CNV Deletion 23290073
esv2661927 CNV Deletion 23128226

Relevant External Links for BLNK Gene

HapMap Linkage Disequilibrium report
BLNK
Human Gene Mutation Database (HGMD)
BLNK
Locus Specific Mutation Databases (LSDB)
BLNK

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BLNK Gene

Disorders for BLNK Gene

(1) OMIM Diseases for BLNK Gene (604515)

UniProtKB/Swiss-Prot

BLNK_HUMAN
  • 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. {ECO:0000269 PubMed:10583958}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for BLNK Gene

(5) Novoseek inferred disease relationships for BLNK Gene

Disease -log(P) Hits PubMed IDs
lymphoblastic leukemia acute 42.6 4
leukemia 37.7 8
tumors 8.79 11
necrosis 0 4
lymphoma 0 5

Relevant External Links for BLNK

Genetic Association Database (GAD)
BLNK
Human Genome Epidemiology (HuGE) Navigator
BLNK
genes like me logo Genes that share disorders with BLNK: view

Publications for BLNK Gene

  1. BLNK: a central linker protein in B cell activation. (PMID: 9697839) Fu C. … Chan A.C. (Immunity 1998) 2 3 4 23
  2. Deficiency of BLNK hampers PLC-gamma2 phosphorylation and Ca2+ influx induced by the pre-B-cell receptor in human pre-B cells. (PMID: 15270728) Taguchi T. … Fujimoto J. (Immunology 2004) 3 4 23
  3. Human SLP-65 isoforms contribute differently to activation and apoptosis of B lymphocytes. (PMID: 16912232) Grabbe A. … Wienands J. (Blood 2006) 3 4 23
  4. An essential role for BLNK in human B cell development. (PMID: 10583958) Minegishi Y. … Conley M.E. (Science 1999) 2 3 4
  5. The kinase Syk as an adaptor controlling sustained calcium signalling and B-cell development. (PMID: 18369315) Kulathu Y. … Reth M. (EMBO J. 2008) 4 23

Products for BLNK Gene

Sources for BLNK Gene

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