Gene

TYROBP

Species
Homo sapiens
Symbol
TYROBP
Name
transmembrane immune signaling adaptor TYROBP
Synonyms
  • DAP12
  • DNAX adaptor protein 12
Biotype
protein coding gene
Automated Description
Enables protein homodimerization activity; protein-macromolecule adaptor activity; and signaling receptor binding activity. Involved in several processes, including cellular response to amyloid-beta; innate immune response activating cell surface receptor signaling pathway; and negative regulation of B cell proliferation. Acts upstream of or within osteoclast differentiation. Is active in cell surface and plasma membrane. Implicated in Nasu-Hakola disease.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR17554
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources

Disease Associations

Cases where the expected disease association was NOT found
Cell color indicative of annotation volume

Transgenic Alleles

Models

Sequence Feature Viewer

Genome location
Assembly version
GRCh38
Viewer Help
35.9045M35.9050M35.9055M35.9060M35.9065M35.9070M35.9075M35.9080M

Sequence Details

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Expression

Primary Sources
None
Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Genetic Interactions