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Aliases for BLNK Gene

Aliases for BLNK Gene

  • B-Cell Linker 2 3 5
  • B-Cell Adapter Containing A SH2 Domain Protein 2 3 4
  • 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
  • SLP65 3 4
  • BASH 3 4
  • B-Cell Linker Protein 3
  • BLNK-S 3
  • AGM4 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 Agammaglobulinemia, Non-Bruton Type. Among its related pathways are RET signaling and Phospholipase-C Pathway. 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

Additional gene information for BLNK Gene

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

Genomics for BLNK Gene

Regulatory Elements for BLNK Gene

Enhancers for BLNK Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10H096266 1.8 FANTOM5 Ensembl ENCODE dbSUPER 23.4 +0.8 848 8 HDGF FOXA2 PKNOX1 TBL1XR1 SIN3A BMI1 YBX1 BATF RAD21 YY1 BLNK ZNF518A GC10M096216
GH10H096242 1.3 Ensembl ENCODE dbSUPER 19.4 +28.1 28083 3 MAX EBF1 BATF RELA YY1 POLR2A EED HNF4G ATF7 ETV6 BLNK OPALIN CC2D2B GC10M096216 GC10M096200
GH10H096286 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.6 -17.3 -17349 5 PKNOX1 FOXA2 ZNF133 YY1 ATF7 RUNX3 JUNB REST ZNF592 MIER3 BLNK OPALIN RNU6-271P TLL2 DNTT
GH10H096292 1.2 Ensembl ENCODE dbSUPER 11.4 -21.9 -21943 1 CTCF ZNF654 FOXA2 TRIM22 REST RAD21 RFX5 SMC3 ZNF24 ZSCAN29 BLNK OPALIN RNU6-271P DNTT
GH10H096650 1.3 Ensembl ENCODE dbSUPER 10.4 -380.2 -380223 2 HDGF PKNOX1 TBL1XR1 BACH1 MAX BMI1 EBF1 POLR2A EED ATF7 PIK3AP1 MIR607 LCOR BLNK GC10M096631
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BLNK on UCSC Golden Path with GeneCards custom track

Promoters for BLNK Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000032034 287 601 FOXA2 TBL1XR1 SIN3A RAD21 YY1 ATF7 RUNX3 IKZF2 SMAD5 CBFB

Genomic Location for BLNK Gene

Chromosome:
10
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

Genes around BLNK on UCSC Golden Path with GeneCards custom track

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

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

Antibody Products

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

Protein Products

  • Abcam proteins for BLNK

No data available for DME Specific Peptides for BLNK Gene

Domains & Families for BLNK Gene

Gene Families for BLNK Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for BLNK Gene

InterPro:
Blocks:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for BLNK Gene

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 10556826
genes like me logo Genes that share ontologies with BLNK: view
genes like me logo Genes that share phenotypes with BLNK: view

Human Phenotype Ontology for BLNK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BLNK Gene

MGI Knock Outs for BLNK:

Animal Model Products

CRISPR Products

miRNA for BLNK Gene

miRTarBase miRNAs that target BLNK

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BLNK
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BLNK gene
Compartment Confidence
plasma membrane 5
cytosol 5
nucleus 3
extracellular 1
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (1)
See all subcellular structures

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 --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with BLNK: view

Pathways & Interactions for BLNK Gene

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

SIGNOR curated interactions for BLNK Gene

Is activated by:

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 IEA --
GO:0009967 positive regulation of signal transduction IEA --
GO:0030183 B cell differentiation NAS 10583958
genes like me logo Genes that share ontologies with BLNK: view

Drugs & Compounds for BLNK Gene

(3) Drugs for BLNK Gene - From: DrugBank and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
1,4-Dithiothreitol Experimental Pharma Target 0

(2) Additional Compounds for BLNK Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for BLNK
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x5.3), Liver (x4.4), and Esophagus - Mucosa (x4.3).

Protein differential expression in normal tissues from HIPED for BLNK Gene

This gene is overexpressed in Blymphocyte (37.8), Peripheral blood mononuclear cells (11.6), Cerebrospinal fluid (10.8), and Lymph node (7.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for BLNK Gene



Protein tissue co-expression partners for BLNK Gene

NURSA nuclear receptor signaling pathways regulating expression of BLNK Gene:

BLNK

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.

Evidence on tissue expression from TISSUES for BLNK Gene

  • Blood(3.2)
  • Lymph node(2.8)
  • Spleen(2.2)
  • Intestine(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for BLNK Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • eyelid
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • middle ear
  • mouth
  • neck
  • outer ear
  • sinus
  • skull
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
Pelvis:
  • pelvis
  • rectum
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with BLNK: view

Primer 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 33 34
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia BLNK 33 34
  • 88.3 (n)
dog
(Canis familiaris)
Mammalia BLNK 33 34
  • 87.98 (n)
mouse
(Mus musculus)
Mammalia Blnk 33 16 34
  • 83.41 (n)
rat
(Rattus norvegicus)
Mammalia Blnk 33
  • 83.41 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 66 (a)
OneToMany
-- 34
  • 64 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia BLNK 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves BLNK 33 34
  • 69.31 (n)
lizard
(Anolis carolinensis)
Reptilia BLNK 34
  • 42 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia blnk 33
  • 57.5 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC398328 33
zebrafish
(Danio rerio)
Actinopterygii blnk 33 34
  • 57.49 (n)
Species where no ortholog for BLNK was found in the sources mined by GeneCards:
  • 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

(1) 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
rs148612299 Likely benign 96,223,879(+) CAAAG(A/C/T)AGTCA intron-variant, nc-transcript-variant, reference, missense
rs1000004813 -- 96,269,463(+) CAGAG(A/G)AAGGT intron-variant
rs1000067540 -- 96,260,081(+) CATTG(A/G)AATGC intron-variant
rs1000112047 -- 96,218,562(+) ATTGG(C/T)ATGCA intron-variant
rs1000179225 -- 96,266,433(+) TGGTT(C/T)AGGGT intron-variant

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

Variant ID Type Subtype PubMed ID
dgv29n17 CNV loss 16327808
esv2661927 CNV deletion 23128226
esv2739762 CNV deletion 23290073
esv2739773 CNV deletion 23290073
nsv1110852 OTHER inversion 24896259
nsv1121460 CNV deletion 24896259
nsv1152730 CNV deletion 26484159
nsv831947 CNV gain+loss 17160897
nsv831949 CNV gain 17160897

Variation tolerance for BLNK Gene

Residual Variation Intolerance Score: 61.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.97; 36.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BLNK Gene

Human Gene Mutation Database (HGMD)
BLNK
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BLNK

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

Disorders for BLNK Gene

MalaCards: The human disease database

(6) MalaCards diseases for BLNK Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
agammaglobulinemia 4
  • agammaglobulinemia 4, autosomal recessive
agammaglobulinemia, non-bruton type
  • autosomal agammaglobulinemia
b cell linker protein deficiency
  • b-cell linker protein deficiency
agammaglobulinemia
  • hypogammaglobulinemia
congenital hypogammaglobulinemia
  • congenital hypogammaglobulinaemia
- elite association - COSMIC cancer census association via MalaCards
Search BLNK in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for BLNK

Genetic Association Database (GAD)
BLNK
Human Genome Epidemiology (HuGE) Navigator
BLNK
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BLNK
genes like me logo Genes that share disorders with BLNK: view

No data available for Genatlas for BLNK Gene

Publications for BLNK Gene

  1. BLNK: a central linker protein in B cell activation. (PMID: 9697839) Fu C … Chan AC (Immunity 1998) 2 3 4 22 60
  2. Human SLP-65 isoforms contribute differently to activation and apoptosis of B lymphocytes. (PMID: 16912232) Grabbe A … Wienands J (Blood 2006) 3 4 22 60
  3. 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 22 60
  4. An essential role for BLNK in human B cell development. (PMID: 10583958) Minegishi Y … Conley ME (Science (New York, N.Y.) 1999) 2 3 4 60
  5. SCIMP, a transmembrane adaptor protein involved in major histocompatibility complex class II signaling. (PMID: 21930792) Draber P … Brdicka T (Molecular and cellular biology 2011) 3 4 60

Products for BLNK Gene

Sources for BLNK Gene

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