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 |
|---|---|---|---|---|---|
| TYRO protein tyrosine kinase binding protein | MIM:604142 | Ensembl:ENSG00000011600 | HGNC:HGNC:12449 | PA37100 | 19q13.12 |
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 |
| BP | TAS | GO:0007165 | signal transduction |
| BP | IEA | GO:0007229 | integrin-mediated signaling pathway |
| BP | IMP | GO:0030316 | osteoclast differentiation |
| BP | TAS | GO:0035556 | intracellular signal transduction |
| BP | TAS | GO:0043312 | neutrophil degranulation |
| BP | TAS | GO:0045087 | innate immune response |
| BP | TAS | GO:0050776 | regulation of immune response |
| BP | IEA | GO:2001204 | regulation of osteoclast development |
| MF | IPI | GO:0005102 | signaling receptor binding |
| MF | IPI | GO:0005515 | protein binding |
| MF | IPI | GO:0042802 | identical protein binding |
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 |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1280218 | Adaptive Immune System |
| reactome | R-HSA-1500931 | Cell-Cell communication |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-198933 | Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell |
| reactome | R-HSA-2172127 | DAP12 interactions |
| reactome | R-HSA-2172127 | DAP12 interactions |
| reactome | R-HSA-2424491 | DAP12 signaling |
| reactome | R-HSA-2424491 | DAP12 signaling |
| reactome | R-HSA-373755 | Semaphorin interactions |
| reactome | R-HSA-391160 | Signal regulatory protein family interactions |
| reactome | R-HSA-416700 | Other semaphorin interactions |
| reactome | R-HSA-422475 | Axon guidance |
| reactome | R-HSA-6798695 | Neutrophil degranulation |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TYROBP
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