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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| B cell linker | MIM:604515 | Ensembl:ENSG00000095585 | HGNC:HGNC:14211 | PA25371 | 10q24.1 |
GO terms in BLNK
| 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 |
| BP | TAS | GO:0006954 | inflammatory response |
| BP | TAS | GO:0006959 | humoral immune response |
| BP | IBA | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway |
| BP | IEA | GO:0007169 | transmembrane receptor protein tyrosine kinase signaling pathway |
| BP | IEA | GO:0009967 | positive regulation of signal transduction |
| BP | NAS | GO:0030183 | B cell differentiation |
| BP | IBA | GO:0035556 | intracellular signal transduction |
| BP | IDA | GO:0035556 | intracellular signal transduction |
| MF | TAS | GO:0005068 | transmembrane receptor protein tyrosine kinase adaptor activity |
| MF | IBA | GO:0005070 | SH3/SH2 adaptor activity |
| MF | IDA | GO:0005070 | SH3/SH2 adaptor activity |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: BLNK
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in BLNK
| 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) |
| netpath | Pathway_BCR | BCR |
| wikipathways | WP23 | B Cell Receptor Signaling Pathway |
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-449147 | Signaling by Interleukins |
| reactome | R-HSA-512988 | Interleukin-3, Interleukin-5 and GM-CSF signaling |
| reactome | R-HSA-912631 | Regulation of signaling by CBL |
| reactome | R-HSA-983695 | Antigen activates B Cell Receptor (BCR) leading to generation of second messengers |
| reactome | R-HSA-983705 | Signaling by the B Cell Receptor (BCR) |
| biocarta | bcrpathway | bcr signaling pathway |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD424 | Tamatinib | 1 |
| iGMDRD171 | Pemetrexed | 3 |
| iGMDRD137 | Indisulam | 5 |
| iGMDRD772 | BRD4770 | 3 |
| iGMDRD579 | PF750 | 2 |
| iGMDRD607 | Ubistatin B | 3 |
| iGMDRD123 | Isoevodiamine | 3 |
| iGMDRD184 | IPA-3 | 1 |
| iGMDRD297 | Austocystin D | 3 |
| iGMDRD154 | NSC23766 | 6 |
| iGMDRD100 | Zebularine | 3 |
| iGMDRD269 | Purmorphamine | 3 |
| iGMDRD506 | Fedratinib | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in BLNK
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