Basic Information

Symbol
TYROBP
RNA class
mRNA
Alias
Transmembrane Immune Signaling Adaptor TYROBP DAP12 KARAP DNAX-Activation Protein 12 Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy Killer-Activating Receptor-Associated Protein TYRO Protein Tyrosine Kinase Binding Protein TYRO Protein Tyrosine Kinase-Binding Protein DNAX Adaptor Protein 12 KAR-Associated Protein PLO-SL PLOSL Killer Activating Receptor Associated Protein PLOSL1
Location (GRCh38)
19:35904401-35908301
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Other applications
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_003332.4
Sequence length
575.0 nt
GC content
0.5965

Transcripts

ID Sequence Length GC content
NM_001173514.2 NCBI
ACUUGCCUGGACGCUGCGCCACAUCCCACCGGCCCUUACACUGUGGUGU… 542 nt 0.5886
NM_001173515.2 NCBI
ACUUGCCUGGACGCUGCGCCACAUCCCACCGGCCCUUACACUGUGGUGU… 539 nt 0.5881
NM_003332.4 NCBI
ACUUGCCUGGACGCUGCGCCACAUCCCACCGGCCCUUACACUGUGGUGU… 575 nt 0.5965
NM_198125.3 NCBI
ACUUGCCUGGACGCUGCGCCACAUCCCACCGGCCCUUACACUGUGGUGU… 572 nt 0.5962
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]

Forensic Context

A study in porcine skin exposed to bromine vapor demonstrated that the TYROBP transcript was significantly increased at 48 hours post-exposure in both 10-minute and 20-minute exposure groups [Rogers et al. DOI:10.1002/jbt.20383]. An earlier study in porcine skin exposed to liquid bromine also found the TYROBP transcript was significantly increased in all experimental groups at both 24 hours and 7 days post-exposure [Price et al. DOI:10.1016/j.toxlet.2008.08.007].