TYROBP
Summary: This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane glycoproteins and may act as an activating signal transduction element. This protein may bind zeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signal transduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated with polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiple alternative transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Mar 2010].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:604142 Ensembl IDEnsembl:ENSG00000011600 HGNC IDHGNC:HGNC:12449 PHARMGKB IDPA37100 Map Location19q13.12 | |||||
Gene Categories:
CELL SURFACEGO terms in TYROBP
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | TAS | GO:0005886 | plasma membrane |
| CC | TAS | GO:0005887 | integral component of plasma membrane |
| CC | IDA | GO:0009986 | cell surface |
| CC | TAS | GO:0030667 | secretory granule membrane |
| BP | IEA | GO:0002281 | macrophage activation involved in immune response |
| BP | TAS | GO:0006968 | cellular defense response |
Gene expression in normal tissue: TYROBP
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TYROBP
Database | Pathway ID | Pathway Des. |
|---|---|---|
| kegg | hsa04380 | Osteoclast differentiation - Homo sapiens (human) |
| kegg | hsa04650 | Natural killer cell mediated cytotoxicity - Homo sapiens (human) |
| netpath | Pathway_RANKL | RANKL |
| wikipathways | WP3937 | Microglia Pathogen Phagocytosis Pathway |
| wikipathways | WP3945 | TYROBP Causal Network |
| wikipathways | WP4136 | Fibrin Complement Receptor 3 Signaling Pathway |
Gene-Drug: Aster Plot
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TYROBP
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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