QuickView for DAP12 (gene)

Gene Symbol:

TYROBP Homo sapiens

Full name:

TYRO protein tyrosine kinase binding protein

Synonyms:

DAP12, KARAP, PLOSL, TYRO protein tyrosine kinase-binding protein, DNAX-activation protein 12, KAR-associated protein, killer-activating receptor-associated protein

Genomic Location:

Chr 19: 41087143-41091026

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 z...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Bos taurus ,  Pan troglodytes ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

RYTTCCTG_ETS2_B ,  IRF1_Q6 ,  ETS2_B ,  RGAGGAARY_PU1_Q6 ,  ELF1_Q6

Cytogenetic Map:

19q13.12

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