Aliases &
Descriptions
for BLK gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
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|
| Aliases & Descriptions |
|---|
| B lymphoid tyrosine kinase1 2 | | MODY112 5 | | MGC104421 2 | | BLK nonreceptor tyrosine kinase2 | | B lymphocyte kinase2 3 | | tyrosine-protein kinase Blk2 | | p55-Blk2 3 | | EC 2.7.10.23 |
Export aliases for BLK gene to outside databasesPrevious GC identifers: GC08P011414 GC08P011222 GC08P011388 |
Summaries
for BLK gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
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 incell 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 ofseveral pancreatic beta-cell transcription factors. (provided by RefSeq)
UniProtKB/Swiss-Prot: BLK_HUMAN, P51451Function: Modulator of beta-cells function, acting through the up-regulation of PDX1 and NKX6-1 and consequentstimulation of insulin secretion in response to glucose
Gene Wiki entry for BLK |
Genomic Views
for BLK 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 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the BLK gene promoter:
NF-kappaB1 NF-kappaB PPAR-gamma1 PPAR-gamma2 GCNF-1 GCNF-2 IRF-1 ER-alpha NF-Y NF-YA
Other transcription factors
Search SABiosciences Chromatin IP Primers for BLK
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays  |
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-p22BLK Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 8 GeneLoc Exon Structure GeneLoc location for GC08P010282: view genomic region
(about GC identifiers)
Start:
|
10,282,885 bp from pter |
End:
|
10,353,426 bp from pter |
Size:
|
70,542 bases |
Orientation:
|
plus strand |
1 alternative location:
| Chr8+ 11,351,510-11,422,113 |
RefSeq DNA sequence:- NC_000008.10 NT_077531.4
|
Proteins
for BLK gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: BLK_HUMAN, P51451 (See
protein sequence)Recommended Name: Tyrosine-protein kinase Blk Size: 505 amino acids; 57706 Da
Secondary accessions: Q16291Explore the universe of human proteins at neXtProt for BLK: NX_P51451
Post-translational modifications:
View phosphorylation sites using PhosphoSite2
REFSEQ proteins: NP_001706.2
ENSEMBL proteins: ENSP00000406620 ENSP00000259089
Human Recombinant Proteins
Antibodies for BLK:
Assays for BLK: |
Protein
Domains/
Families
for BLK gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
BLK for domains About GeneDecksing
5/9 InterPro domains/families (see all 9):Graphical View of Domain Structure for InterPro Entry P51451ProtoNet 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, P51451Similarity: Belongs to the protein kinase superfamily. Tyr protein kinase family. SRC subfamilySimilarity: Contains 1 protein kinase domainSimilarity: Contains 1 SH2 domainSimilarity: Contains 1 SH3 domain |
Gene Function
for BLK gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: BLK_HUMAN, P51451Function: Modulator of beta-cells function, acting through the up-regulation of PDX1 and NKX6-1 and consequentstimulation of insulin secretion in response to glucoseCatalytic activity: ATP + a [protein]-L-tyrosine = ADP + a [protein]-L-tyrosine phosphateEnzyme Number (IUBMB): EC 2.7.10.2
Genatlas biochemistry entry for BLK:lymphoid non receptor tyrosine kinase (58kDa),homologous to mouse Blk,SRC family5/8 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 8): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0000166 | nucleotide binding |
IEA | -- | | GO:0004672 | protein kinase activity |
-- | -- | | GO:0004674 | protein serine/threonine kinase activity |
-- | -- | | GO:0004713 | protein tyrosine kinase activity |
TAS | 7845672 | | GO:0004715 | non-membrane spanning protein tyrosine kinase activity |
IEA | -- |
About this table
BLK for ontologies About GeneDecksing
Animal Models: 3 MGI mutant phenotypes (inferred from 1 allele ) (MGI details for Blk):
BLK for phenotypes About GeneDecksing
|
Pathways & Interactions
for BLK gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
BLK for pathways About GeneDecksing
2  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for BLK
2 
Cell Signaling Technology (CST) Pathways for BLK
SABiosciences Custom Pathway-Focused PCR Arrays for BLK
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for BLK
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BLK
5/50 Interacting proteins for BLK (ENSP000002590893 P514512) via UniProtKB, MINT, and/or STRING (see all 50)About this table
3 Gene Ontology (GO) biological process terms (GO ID links to tree view): About this table
BLK for ontologies About GeneDecksing
|
Drugs & Compounds
for BLK gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
BLK for compounds About GeneDecksing
 Browse Tocris compounds for BLK
6  Novoseek chemical compound relationships for BLK gene
About this table
|
Transcripts
for BLK gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for BLK gene: NM_001715.2 Additional cDNA sequence: AK131319.1 AK313751.1 AL832875.1 BC004473.2 BC007371.2 BC018703.1 BC032413.1 BC038555.1 CR625422.1 S76617.1 Z33998.1 10 DOTS entries: DT.453246 DT.100019437 DT.91707407 DT.40106270 DT.91750791 DT.120648337 DT.40310138 DT.95163770 DT.75131135 DT.91707406 24/83 AceView cDNA sequences (see all 83): AL832875 BI224882 NM_001715 CR625422 BC018703 BC007371 BM465722 BC032413 BM458538 BM923839 BQ049022 AW406482 AA465318 AU141286 AI379972 BE676148 CD693037 BE268133 AA465545 BG388319 BI521453 BM458517 BX400483 BI521577
 highest scoring ESTs for BLK:S76617 AA278447 AA465174 AA465545 AA769033 AI014559 AI084074 AI379972 AI453244 AI475734 Unigene Cluster for BLK: B lymphoid tyrosine kinase Hs.146591 [show with all ESTs]Unigene Representative Sequence: AK131319
GeneLoc Exon Structure
5/7 Alternative Splicing Database (ASD) splice patterns (SP) for BLK (see all 7)
| 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: | | | | | | | | | | | | | | | | | | | | | | | | | | | | | - | | | | | | | | | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for BLK
2 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000427279 ENST00000259089(uc003wtx.2 uc003wty.2 uc003wtz.2 uc003wua.2)
|
Expression
for BLK gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| BLK expression in normal and diseased human tissues
1 / 2 / 3 5 probe-sets matching BLK gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 854_at2, 3
|
U95-A |
1 |
0.94 |
1.00 |
1.00 |
1.00 |
S76617 |
1.00 |
1.00 |
1.00 |
1 |
| 206255_at2, 3
|
U133-A |
1 |
0.91 |
1.00 |
-- |
-- |
NM_001715 |
0.60 |
1.00 |
0.82 |
1 |
| 210934_at2, 3
|
U133-A |
1 |
0.36 |
1.00 |
-- |
-- |
BC004473 |
0.60 |
1.00 |
0.82 |
1 |
| 206255_at2
|
U133Plus2 |
1 |
0.91 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
| 210934_at2
|
U133Plus2 |
1 |
0.36 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
BLK for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: CCGCGCCCCG
SOURCE GeneReport for Unigene cluster: Hs.146591
Expression variation in blood from EXPOLDB for BLK UniProtKB/Swiss-Prot: BLK_HUMAN, P51451Tissue specificity: Expressed in lymphatic organs, pancreatic islets, Leydig cells, striate ducts of salivary glandsand hair follicles
SABiosciences Custom PCR Arrays for BLK
|
Orthologs
for BLK gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for BLK gene from 5/8 species (see all 8)
About this table Species with no ortholog for BLK
ENSEMBL Gene Tree for BLK (if available) |
Paralogs
for BLK gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for BLK gene
- FRK2 LCK2 LYN2 FGR2 HCK2 YES12 SRC2 FYN2
BLK for paralogs About GeneDecksing
|
Genomic Variants
for BLK gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
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 | | QIAGEN SeqTarget long-range PCR primers for resequencing BLK |
|
Disorders & Mutations
for BLK gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
BLK for disorders About GeneDecksing
OMIM: 191305 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 aform of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or earlyadulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence atthe beginning of the disease
3 Novoseek disease relationships for BLK gene
About this table
1 PharmGKB disease relationship for BLK geneAbout this table
Human Gene Mutation Database (HGMD): BLK
Human Genome Epidemiology (HuGE) Navigator: BLK (17 documents)
Tumor Gene Database (TGDB): BLK
Export disorders and mutations for BLK gene to outside databases
|
Medical News
for BLK gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for BLK gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/76 PubMed articles for BLK gene, integrated from 7 sources (see all 76):
(articles sorted by number of sources associating them with BLK)- Molecular cloning and chromosomal localization of the human homologue of a B-lymphocyte specific protein tyrosine kinase (blk). (PubMed id 7845672)1, 2, 3, 7 Drebin J.A....Niederhuber J.E. (1995)
- Mutations at the BLK locus linked to maturity onset d iabetes of the young and beta-cell dysfunction. (PubMed id 19667185)1, 2, 7 Borowiec M....Doria A. (2009)
- Molecular cloning, characterization, and chromosomal localization of a human lymphoid tyrosine kinase related to murine Blk. (PubMed id 7822795)1, 2, 7 Islam K.B.... Smith C.I. (1995)
- Ectopic expression of B-lymphoid kinase in cutaneous T-cell lymphoma. (PubMed id 19351960)1, 7 Krejsgaard T....A9dum N. (2009)
- Blk, a BH3-containing mouse protein that interacts with Bcl-2 and Bcl-xL, is a potent death agonist. (PubMed id 9525867)1, 7 Hegde R....Alnemri E.S. (1998)
- Reconstitution of the B cell antigen receptor signaling components in COS cells. (PubMed id 7592958)1, 7 Saouaf S.J....Mahajan S. (1995)
- Transcription of the blk gene in human B lymphocytes is controlled by two promoters. (PubMed id 7592787)1, 7 Lin Y.H....Niederhuber J.E. (1995)
- In vivo and in vitro specificity of protein tyrosine kinases for immunoglobulin G receptor (FcgammaRII) phosphorylation. (PubMed id 8756631)1, 7 Bewarder N....Frey J. (1996)
- 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, 7 Cho J.-Y.... Libermann T.A. (2004)
- Palmitylation of Src family tyrosine kinases regulates functional interaction with a B cell substrate. (PubMed id 9177269)1, 7 Saouaf S.J....Bolen J.B. (1997)
|
External Searches for BLK gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing BLK gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BLK gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BLK gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
|
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
|
Products
for BLK gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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 |  |  |  | |
 | Antibodies & Assays for BLK |
| | | | Search Tocris compounds for BLK |
| |  |  |  |  | | | | |
 | | | ELISAs and CLIAs for BLK |
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