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Aliases for BLK Gene

Aliases for BLK Gene

  • BLK Proto-Oncogene, Src Family Tyrosine Kinase 2 3 5
  • B Lymphoid Tyrosine Kinase 2 3
  • B Lymphocyte Kinase 3 4
  • EC 2.7.10.2 4 58
  • P55-Blk 3 4
  • BLK Nonreceptor Tyrosine Kinase 3
  • Tyrosine-Protein Kinase Blk 3
  • MODY11 3

External Ids for BLK Gene

Previous GeneCards Identifiers for BLK Gene

  • GC08P011222
  • GC08P011388
  • GC08P010282

Summaries for BLK Gene

Entrez Gene Summary for BLK Gene

  • This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]

GeneCards Summary for BLK Gene

BLK (BLK Proto-Oncogene, Src Family Tyrosine Kinase) is a Protein Coding gene. Diseases associated with BLK include Maturity-Onset Diabetes Of The Young, Type 11 and Maturity-Onset Diabetes Of The Young. Among its related pathways are MAPK-Erk Pathway and EPHA forward signaling. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and protein tyrosine kinase activity. An important paralog of this gene is HCK.

UniProtKB/Swiss-Prot for BLK Gene

  • 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-188and 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 Gene

Additional gene information for BLK Gene

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

Genomics for BLK Gene

Regulatory Elements for BLK Gene


Enhancers around BLK on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the BLK gene promoter:

Genomic Location for BLK Gene

Chromosome:
8
Start:
11,493,991 bp from pter
End:
11,564,604 bp from pter
Size:
70,614 bases
Orientation:
Plus strand

Genomic View for BLK Gene

Genes around BLK on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BLK Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BLK Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BLK Gene

Proteins for BLK Gene

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

    Protein Symbol:
    P51451-BLK_HUMAN
    Recommended name:
    Tyrosine-protein kinase Blk
    Protein Accession:
    P51451
    Secondary Accessions:
    • Q16291
    • Q96IN1

    Protein attributes for BLK Gene

    Size:
    505 amino acids
    Molecular mass:
    57706 Da
    Quaternary structure:
    • Interacts with CBL (via SH2 domain). Interacts with CD79A and CD79B (via SH2 domain) (By similarity).

neXtProt entry for BLK Gene

Selected DME Specific Peptides for BLK Gene

P51451:
  • KWTAPEA
  • FLIRESE
  • CKIADFGLAR
  • PIYIVTE
  • GQFGEVW
  • LVRLYAVV
  • HRDLRAANILV
  • YISPRITFP
  • DFYTATE
  • KFPIKWTAPE
  • AQIAEGMA
  • DMSAQIA
  • GTMSPEAFL
  • GMAYIER
  • PEERPTFE

Post-translational modifications for BLK Gene

  • Phosphorylated on tyrosine residues after antibody-mediated surface engagement of the B-cell antigen receptor (BCR).
  • Ubiquitination of activated BLK by the UBE3A ubiquitin protein ligase leads to its degradation by the ubiquitin-proteasome pathway.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

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

Protein Products

Domains & Families for BLK Gene

Gene Families for BLK Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for BLK Gene

Graphical View of Domain Structure for InterPro Entry

P51451

UniProtKB/Swiss-Prot:

BLK_HUMAN :
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily.
Family:
  • Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamily.
genes like me logo Genes that share domains with BLK: view

Function for BLK Gene

Molecular function for BLK Gene

GENATLAS Biochemistry:
lymphoid non receptor tyrosine kinase (58kDa),homologous to mouse Blk,SRC family
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
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.
UniProtKB/Swiss-Prot 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-188and 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.
UniProtKB/Swiss-Prot Induction:
Expression is under the control of NF-kappa-B as well as the B-cell specific transcription factors PAX5 and EBF1.

Enzyme Numbers (IUBMB) for BLK Gene

Phenotypes From GWAS Catalog for BLK Gene

Gene Ontology (GO) - Molecular Function for BLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004672 protein kinase activity IEA --
GO:0004713 protein tyrosine kinase activity TAS,IEA 7845672
GO:0004715 non-membrane spanning protein tyrosine kinase activity IEA,IDA 876631
GO:0005102 receptor binding IBA --
GO:0005515 protein binding IPI 16273093
genes like me logo Genes that share ontologies with BLK: view
genes like me logo Genes that share phenotypes with BLK: view

Human Phenotype Ontology for BLK Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for BLK Gene

MGI Knock Outs for BLK:
  • Blk tm1Tara
  • Blk tm1.1(KOMP)Vlcg

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No data available for miRNA , Transcription Factor Targets and HOMER Transcription for BLK Gene

Localization for BLK Gene

Subcellular locations from UniProtKB/Swiss-Prot for BLK Gene

Cell membrane; Lipid-anchor. Note=Present and active in lipid rafts. Membrane location is required for the phosphorylation of CD79A and CD79B (By similarity). {ECO:0000250}.

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 BLK gene
Compartment Confidence
plasma membrane 4
cytosol 3
mitochondrion 2
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for BLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0031234 extrinsic component of cytoplasmic side of plasma membrane IBA --
genes like me logo Genes that share ontologies with BLK: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for BLK Gene

Pathways & Interactions for BLK Gene

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

Gene Ontology (GO) - Biological Process for BLK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway IBA --
GO:0016310 phosphorylation IEA --
GO:0016477 cell migration IBA --
GO:0018108 peptidyl-tyrosine phosphorylation IEA --
genes like me logo Genes that share ontologies with BLK: view

No data available for SIGNOR curated interactions for BLK Gene

Drugs & Compounds for BLK Gene

(5) Drugs for BLK Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ENMD-2076 Pharma inhibitor Selective Aurora A/Flt3 inhibitor, Aurora A and VEGFR/FGFR kinase inhibitor, Kinase Inhibitors 0
ATP Nutra Agonist 0

(4) Additional Compounds for BLK Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with BLK: view

Transcripts for BLK Gene

Unigene Clusters for BLK Gene

B lymphoid tyrosine kinase:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

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

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: -
SP6:
SP7:

Relevant External Links for BLK Gene

GeneLoc Exon Structure for
BLK
ECgene alternative splicing isoforms for
BLK

Expression for BLK Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BLK Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Spleen (x13.9), Small Intestine - Terminal Ileum (x11.1), and Whole Blood (x4.5).

Protein differential expression in normal tissues from HIPED for BLK Gene

This gene is overexpressed in Cervix (30.0), Ovary (16.5), Pancreas (15.2), and Blymphocyte (6.4).

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



NURSA nuclear receptor signaling pathways regulating expression of BLK Gene:

BLK

SOURCE GeneReport for Unigene cluster for BLK Gene:

Hs.146591

mRNA Expression by UniProt/SwissProt for BLK Gene:

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

Evidence on tissue expression from TISSUES for BLK Gene

  • Blood(4.4)
  • Spleen(4.3)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • nervous
  • reproductive
  • urinary
Organs:
Head and neck:
  • brain
  • ear
  • eye
  • head
Thorax:
  • heart
Abdomen:
  • kidney
  • pancreas
Pelvis:
  • penis
  • placenta
  • uterus
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with BLK: view

No data available for Protein tissue co-expression partners for BLK Gene

Orthologs for BLK Gene

This gene was present in the common ancestor of animals.

Orthologs for BLK Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BLK 33 34
  • 98.68 (n)
dog
(Canis familiaris)
Mammalia BLK 33 34
  • 87.47 (n)
cow
(Bos Taurus)
Mammalia BLK 33 34
  • 86.6 (n)
rat
(Rattus norvegicus)
Mammalia Blk 33
  • 85.57 (n)
mouse
(Mus musculus)
Mammalia Blk 33 16 34
  • 84.97 (n)
oppossum
(Monodelphis domestica)
Mammalia BLK 34
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia BLK 34
  • 54 (a)
OneToOne
chicken
(Gallus gallus)
Aves BLK 33 34
  • 72.05 (n)
lizard
(Anolis carolinensis)
Reptilia BLK 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia blk 33
  • 65.81 (n)
zebrafish
(Danio rerio)
Actinopterygii blk 33 34
  • 67.25 (n)
fruit fly
(Drosophila melanogaster)
Insecta Src64B 35
  • 51 (a)
worm
(Caenorhabditis elegans)
Secernentea src-1 35
  • 43 (a)
kin-26 35
  • 33 (a)
W01B6.5 35
  • 29 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 50 (a)
ManyToMany
-- 34
  • 48 (a)
ManyToMany
-- 34
  • 47 (a)
ManyToMany
Species where no ortholog for BLK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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 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)

Evolution for BLK Gene

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

Paralogs for BLK Gene

Paralogs for BLK Gene

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

Variants for BLK Gene

Sequence variations from dbSNP and Humsavar for BLK Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs1042695 Pathogenic 11,564,446(+) CGTGC(G/T)GGCCG utr-variant-3-prime
rs55758736 Pathogenic 11,548,067(+) ACACC(A/G)CTATG reference, missense, utr-variant-5-prime
rs886037621 Pathogenic 11,564,613(+) GTGTC(G/T)TTACC downstream-variant-500B
rs115316286 Likely benign 11,494,063(+) GCAGC(A/G)TTTGT utr-variant-5-prime
rs138972988 Likely benign 11,548,043(+) ATTTC(A/G)TGGTG reference, missense, utr-variant-5-prime

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

Variant ID Type Subtype PubMed ID
dgv11957n54 CNV gain 21841781
dgv1374e214 CNV gain 21293372
dgv7014n100 CNV gain 25217958
dgv866n27 CNV gain 19166990
esv2761407 CNV gain 21179565
esv2762726 CNV loss 21179565
esv34097 CNV loss 18971310
esv3616250 CNV gain 21293372
nsv1017865 CNV gain 25217958
nsv1029589 CNV gain 25217958
nsv1076057 CNV deletion 25765185
nsv1124321 CNV deletion 24896259
nsv397436 CNV deletion 16902084
nsv520117 CNV gain 19592680
nsv523827 CNV gain 19592680

Variation tolerance for BLK Gene

Residual Variation Intolerance Score: 57.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.88; 48.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BLK Gene

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

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

Disorders for BLK Gene

MalaCards: The human disease database

(12) MalaCards diseases for BLK Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
maturity-onset diabetes of the young, type 11
  • maturity-onset diabetes of the young type 11
maturity-onset diabetes of the young
  • mason-type diabetes
chronic gonococcal salpingitis
  • gonococcal salpingitis
chronic salpingitis
keratolytic winter erythema
  • erythrokeratolysis hiemalis ichthyosis
- elite association - COSMIC cancer census association via MalaCards
Search BLK in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

BLK_HUMAN
  • Maturity-onset diabetes of the young 11 (MODY11) [MIM:613375]: A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. {ECO:0000269 PubMed:19667185}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for BLK

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

No data available for Genatlas for BLK Gene

Publications for BLK Gene

  1. Molecular cloning and chromosomal localization of the human homologue of a B-lymphocyte specific protein tyrosine kinase (blk). (PMID: 7845672) Drebin JA … Niederhuber JE (Oncogene 1995) 2 3 4 22 60
  2. Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction. (PMID: 19667185) Borowiec M … Doria A (Proceedings of the National Academy of Sciences of the United States of America 2009) 3 4 22 60
  3. Replication of the association between the C8orf13-BLK region and systemic lupus erythematosus in a Japanese population. (PMID: 19180478) Ito I … Tsuchiya N (Arthritis and rheumatism 2009) 3 22 45 60
  4. Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. (PMID: 18204098) Hom G … Behrens TW (The New England journal of medicine 2008) 3 22 45 60
  5. In vivo and in vitro specificity of protein tyrosine kinases for immunoglobulin G receptor (FcgammaRII) phosphorylation. (PMID: 8756631) Bewarder N … Frey J (Molecular and cellular biology 1996) 3 4 22 60

Products for BLK Gene

  • Addgene plasmids for BLK

Sources for BLK Gene

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