BLNK

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].

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Name
OMIM ID
Ensembl ID
HGNC ID
PHARMGKB ID
Map Location
NameB cell linker
OMIM IDMIM:604515
Ensembl IDEnsembl:ENSG00000095585
HGNC IDHGNC:HGNC:14211
PHARMGKB IDPA25371
Map Location10q24.1

GO terms in BLNK


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Term Type
Evidence Type
GO Term ID
GO Des.
CC NAS GO:0005622 intracellular
CC IBA GO:0005737 cytoplasm
CC TAS GO:0005829 cytosol
CC IDA GO:0005886 plasma membrane
CC TAS GO:0005886 plasma membrane
CC IDA GO:0036464 cytoplasmic ribonucleoprotein granule
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Gene expression in normal tissue: BLNK

Gene-model tissue-cancer distribution: Bubble Plot

undefinetissue: undefine cancer: undefined model num: 0undefinedtissue: undefined cancer: PANCAN model num: 25undefinedtissue: undefined cancer: ADENOCARCINOMA model num: 2LUNtissue: LUN cancer: LUNG model num: 0LUNGtissue: LUNG cancer: undefined model num: 3BOWEtissue: BOWE cancer: BOWEL model num: 0BOWELtissue: BOWEL cancer: undefined model num: 7

Gene-drug pathway distribution

Pathways in BLNK


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Database
Pathway ID
Pathway Des.
pid bcr_5pathway BCR signaling pathway
pid pi3kcipathway Class I PI3K signaling events
kegg hsa04064 NF-kappa B signaling pathway - Homo sapiens (human)
kegg hsa04380 Osteoclast differentiation - Homo sapiens (human)
kegg hsa04662 B cell receptor signaling pathway - Homo sapiens (human)
kegg hsa05340 Primary immunodeficiency - Homo sapiens (human)
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Gene-Drug: Aster Plot


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Drug ID
Drug Name
Model Num.
iGMDRD424 Tamatinib 1
iGMDRD171 Pemetrexed 3
iGMDRD137 Indisulam 5
iGMDRD772 BRD4770 3
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in BLNK

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Model
Level
Reference ID
Tissue
Cancer
Drug
Clinical Response
Source
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