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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

BLNK Gene

protein-coding GIFtS: 66
GCID: GC10M097941

B-cell linker

Explore 22 diseases affiliated with
BLNK via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
B-Cell Linker¹ ²		BLNK-S²
SLP65¹ ² ³ ⁵		Ly57¹
BASH¹ ² ³		BLNK-S²
SLP-65¹ ² ³		LY57²
Bca¹		B Cell Adaptor Containing SH2 Domain²
Cytoplasmic Adapter Protein² ³		B Cell Linker Protein²
B-Cell Adapter Containing A SH2 Domain Protein² ³		B-Cell Activation²
B-Cell Adapter Containing A Src Homology 2 Domain Protein² ³		B-Cell Linker Protein²
Src Homology 2 Domain-Containing Leukocyte Protein Of 65 KDa² ³		Src Homology [SH2] Domain-Containing Leukocyte Protein Of 65 KD²
AGM4² ⁵

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

Export aliases for BLNK gene to outside databases

Previous GC identifers: GC10M096844 GC10M097184 GC10M098082 GC10M097616 GC10M091579

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BLNK:

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)

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)

(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences 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 plasmid: BLNK promoter sequence

Search SABiosciences Chromatin IP Primers for BLNK

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:	98,031,333 bp from pter
Size:	79,879 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

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

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

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

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8WV28

BLNK Protein expression data from MOPED and PaxDb: About this image

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
Human Recombinant Protein Products:

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	Uscn Proteins for BLNK

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	NAS	9341187
GO:0005829	cytosol	TAS	--
GO:0005886	plasma membrane	TAS	--

BLNK for ontologies About GeneDecksing

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	ThermoFisher Antibody for BLNK

Assay Products for BLNK:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for BLNK

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

BLNK for domains About GeneDecksing

1 InterPro domain/family:

IPR000980 SH2

Graphical View of Domain Structure for InterPro Entry Q8WV28

ProtoNet protein and cluster: Q8WV28

1 Blocks protein family: IPB000980 SH2 domain signature

UniProtKB/Swiss-Prot: BLNK_HUMAN, Q8WV28

Similarity: Contains 1 SH2 domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): BLNK Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat BLNK
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		hsa-miR-616* hsa-miR-373*
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for BLNK
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLNK

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

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	RCA	19641626
GO:0005515	protein binding	IPI	--

BLNK for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for BLNK:

Increased circadian rhythm amp

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-outs for BLNK: Blnk^tm1Achn Blnk^tm1Pjln Blnk^tm1Dkit Blnk^tm1Kplm
6 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Blnk):

cardiovascular system	cellular	hematopoietic system	immune system	mortality/aging
tumorigenesis

BLNK for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/19 super-pathways (see all 19) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

B cell receptor signaling pathway

	B cell receptor signaling pathway	1.00			PI3K Signaling in B-Lymphocyte	0.35
	BCR signaling pathway	0.41

Immune response_NFAT in immune response

Immune response_NFAT in immune response

1.00

Immune response NFAT in immune response

0.91

Immune response Fc epsilon RI pathway

Immune response Fc epsilon RI pathway

1.00

Immune response_Fc epsilon RI pathway

0.99

Immune System

Immune System

1.00

Adaptive Immune System

0.59

Assembly of Signalosomes at the Activated BCR

Assembly of Signalosomes at the Activated BCR

1.00

Antigen Activates B Cell Receptor Leading to Generation of Second Messengers

0.78

Pathway sources
See GeneCards unified pathways
Show all pathways

4 EMD Millipore Pathways for BLNK

	G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins
	Immune response BCR pathway
	Immune response NFAT in immune response
	Immune response Fc epsilon RI pathway

5 Downloadable PowerPoint Slides of QIAGEN 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

2 Cell Signaling Technology (CST) Pathways for BLNK

	Lymphocyte Signaling
	Tyrosine Kinases / Adaptors

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

5/9 Reactome Pathways for BLNK (see all 9)

	Cytokine Signaling in Immune system
	Regulation of signaling by CBL
	Adaptive Immune System
	Signaling by the B Cell Receptor (BCR)
	Assembly of Signalosomes at the Activated BCR

3 Kegg Pathways (Kegg details for BLNK):

	Osteoclast differentiation
	B cell receptor signaling pathway
	Primary immunodeficiency

BLNK for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for BLNK

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

5/72 Interacting proteins for BLNK (Q8WV28^{2, 3} ENSP00000224337⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 72)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
GRB2	P62993²^,³, ENSP00000339007⁴	MINT-7144603 MINT-8287491 MINT-59467 MINT-7144594 MINT-7144559 I2D: score=6 STRING: ENSP00000339007
SH3KBP1	Q96B97²^,³, ENSP00000380921⁴	MINT-8328032 I2D: score=4 STRING: ENSP00000380921
PLCG2	P16885²^,³, ENSP00000352336⁴	MINT-8287491 I2D: score=3 STRING: ENSP00000352336
SYK	P43405²^,³, ENSP00000364898⁴	MINT-6621148 I2D: score=3 STRING: ENSP00000364898
ERBB2	P04626²^,³, ENSP00000269571⁴	MINT-74486 I2D: score=2 STRING: ENSP00000269571

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

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:0030183	B cell differentiation	NAS	10583958
GO:0035556	intracellular signal transduction	IDA	9341187

BLNK for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

BLNK for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for BLNK
4 Novoseek 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)

Search CenterWatch for drugs/clinical trials and news about BLNK

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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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		hsa-miR-616* hsa-miR-373*
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Additional cDNA 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

24/63 AceView cDNA sequences (see all 63):

CR598772 AA931361 AI500068 AW129258 AI242506 NM_013314 BX389613 BC018906

BX325246 BM128686 BX389614 AI811831 AL699107 AI307343 AA828248 BG258695

AL581498 AK027779 AL559977 BM821732 AI857240 BQ272206 AI033790 BU934447

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

BLNK expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTACTAATAT

About this image

BLNK expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Ureteric Bud

Ureteric Bud Cells

Kidney

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Human kidney epithelial cell spheroids (Kidney spheroids for...)

See BLNK Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for BLNK

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

SABiosciences Expression via Pathway-Focused 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
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BLNK

(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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for BLNK gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	BLNK¹	B-cell linker	57.71(n) 51.1(a)		395733 NM_204908.1 NP_990239.1
lizard (Anolis carolinensis)	Reptilia	BLNK⁶	--	55(a)	1 ↔ 1	GL343262.1(1349953-1388590)
African clawed frog (Xenopus laevis)	Amphibia	LOC398328²	adaptor protein BLNK	73.31(n)		AY121371.1
zebrafish (Danio rerio)	Actinopterygii	blnk¹	B-cell linker	52.25(n) 47.34(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)
About This Section

Paralogs for BLNK gene

LCP2² CLNK² SH2D6²

1 SIMAP similar gene for BLNK using alignment to 4 protein entries: BLNK_HUMAN (see all proteins):

BASH

BLNK for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs34920263^1,2	C	--	97950992(+)	`TTTTTTT/-ATGTA`	9	--	ds500¹		1		NA	2
rs190418366^1,2		--	97951051(+)	`GCAGCA/GTGATA`	9	--	ds500¹		0	--	--	--	--
rs181998049^1,2		--	97951100(+)	`TTTGAG/TAGACA`	9	--	ds500¹		0	--	--	--	--
rs149043414^1,2	C,	--	97951191(+)	`TATCC-/ATATATA`	9	--	ds500¹		0	--	--	--	--
rs140514737^1,2		--	97951335(+)	`CAAGCA/GTTGGC`	9	--	ds500¹		0	--	--	--	--
rs150009263^1,2		--	97951468(+)	`AAAAAC/TAAAAA`	9	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs200396708^1,2		--	97951722(+)	`TTTTTC/TCCCCC`	9	--	ut3¹ nc-transcript-variant		0	--	--	--	--
rs1057940^1,2	H	--	97951761(-)	`ATTCCA/CCCAGA`	14	T P	nc-transcript-variantmis¹ ese³		7		MN NS EA NA	594
rs202240472^1,2		--	97951813(+)	`TGTTGA/GTGATT`	14	H	syn¹		0	--	--	--	--
rs145030645^1,2		--	97951927(+)	`TCTCAA/TTCTCA`	9	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for BLNK (97951455 - 98031333 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for BLNK
1 CNV: 1489
Human Gene Mutation Database (HGMD): BLNK

Locus Specific Mutation Databases (LSDB): BLNK

SABiosciences Cancer Mutation 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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BLNK for disorders           About GeneDecksing

OMIM gene information: 604515
OMIM disorders: 613502
UniProtKB/Swiss-Prot: BLNK_HUMAN, Q8WV28

Defects in BLNK are the cause of agammaglobulinemia type 4 (AGM4) [MIM:613502]. It is 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

20/22 diseases for BLNK (see all 22): About MalaCards

acute lymphoblastic leukemia lymphoblastic leukemia hypoglobulinemia and absent b cells diffuse large b-cell lymphoma

leukemia b-cell lymphomas waldenstrom macroglobulinemia agammaglobulinemia 4

congenital hypogammaglobulinemia agammaglobulinemia macroglobulinemia chronic lymphocytic leukemia

lymphocytic leukemia multiple myeloma mediastinitis hepatitis b

myeloma t-cell leukemia alzheimer's disease colon cancer

3 diseases from the University of Copenhagen DISEASES database for BLNK:

Agammaglobulinemia Anthrax disease Congenital hypogammaglobulinemia

5 Novoseek 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)

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 9 sources (see all 116):
(articles sorted by number of sources associating them with BLNK)

Utopia: connect your pdf to the dynamic
world of online information

BLNK: a central linker protein in B cell activation. (PubMed id 9697839)^{1, 2, 3, 9} Fu C.... Chan A.C. (1998)
An essential role for BLNK in human B cell development. (PubMed id 10583958)^{1, 2, 3} Minegishi Y.... Conley M.E. (1999)
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. (2004)
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. (2006)
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. (2004)
BLNK: molecular scaffolding through 'cis'-mediated organization of signaling proteins. (PubMed id 12456653)^{1, 2} Chiu C.W.... Chan A.C. (2002)
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. (1997)
SLP-65 signal transduction requires Src homology 2 domain-mediated membrane anchoring and a kinase-independent adaptor function of Syk. (PubMed id 17681949)^{1, 9} Abudula A....Wienands J. (2007)
BLNK binds active H-Ras to promote B cell receptor-mediated capping and ERK activation. (PubMed id 19218240)^{1, 9} Imamura Y....Kitamura D. (2009)
Deficiency of the adaptor SLP-65 in pre-B-cell acute lymphoblastic leukaemia. (PubMed id 12761551)^{1, 9} Jumaa H....Reth M. (2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for BLNK	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for BLNK	Genetics and Cytogenetics in Oncology and Haematology
BLNKbase	http://bioinf.uta.fi/BLNKbase/

Intellectual Property for BLNK gene
(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

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BLNK (Gene Symbol)
B-Cell Linker
SLP65
BASH
SLP-65
Bca
Cytoplasmic Adapter Protein
B-Cell Adapter Containing A SH2 Domain Protein
B-Cell Adapter Containing A Src Homology 2 Domain Protein
Src Homology 2 Domain-Containing Leukocyte Protein Of 65 KDa
AGM4
BLNK-S
Ly57
BLNK-S
LY57
B Cell Adaptor Containing SH2 Domain
B Cell Linker Protein
B-Cell Activation
B-Cell Linker Protein
Src Homology [SH2] Domain-Containing Leukocyte Protein Of 65 KD

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B-cell linker

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