InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: BLNK

Summary

InnateDB Gene

IDBG-83724.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

BLNK

Gene Name

B-cell linker

Synonyms

Species

Homo sapiens

Ensembl Gene

ENSG00000095585

Encoded Proteins

IDBP-83726

B-cell linker

IDBP-83728

B-cell linker

IDBP-383500

B-cell linker

IDBP-383504

B-cell linker

IDBP-749046

IDBP-749014

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 10:96191702-96271587

Strand

Reverse strand

Band

q24.1

Transcripts

ENST00000224337	ENSP00000224337
ENST00000371176	ENSP00000360218
ENST00000427367	ENSP00000391924
ENST00000413476	ENSP00000397487
ENST00000485193
ENST00000467799	ENSP00000466331
ENST00000468252
ENST00000472763
ENST00000495266	ENSP00000465741

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 50 experimentally validated interaction(s) in this database.
They are also associated with 11 interaction(s) predicted by orthology.

Experimentally validated
Total	50 [view]
Protein-Protein	48 [view]
Protein-DNA	2 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	11 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005068	transmembrane receptor protein tyrosine kinase adaptor activity
GO:0005070	SH3/SH2 adaptor activity
GO:0005515	protein binding

Biological Process

GO:0006954	inflammatory response
GO:0006959	humoral immune response
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway
GO:0009967	positive regulation of signal transduction
GO:0030183	B cell differentiation
GO:0035556	intracellular signal transduction