• Gene id: 7305

Gene Summary

• Gene Symbol: TYROBP   Gene   UCSC   Ensembl
• Aliases: DAP12, KARAP, PLOSL, PLOSL1
• Gene name: transmembrane immune signaling adaptor TYROBP
• Alternate names: TYRO protein tyrosine kinase-binding protein, DNAX adaptor protein 12, DNAX-activation protein 12, KAR-associated protein, TYRO protein tyrosine kinase binding protein, killer-activating receptor-associated protein, polycystic lipomembranous osteodysplasia with,
• Gene location: 19q13.12 (35908294: 35904402)     Exons: 5     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 604142

Protein Summary

• Protein general information: O43914  
  • Name: TYRO protein tyrosine kinase binding protein (DNAX activation protein 12) (Killer activating receptor associated protein) (KAR associated protein)
  • Length: 113  
  • Mass: 12179
  • Tissue specificity: Expressed at low levels in the early development of the hematopoietic system and in the promonocytic stage and at high levels in mature monocytes. Expressed in hematological cells and tissues such as peripheral blood leukocytes and spl
• Sequence:

  MGGLEPCSRLLLLPLLLAVSGLRPVQAQAQSDCSCSTVSPGVLAGIVMGDLVLTVLIALAVYFLGRLVPRGRGAA
  EAATRKQRITETESPYQELQGQRSDVYSDLNTQRPYYK

• Structural information:
  • Protein Domains: (80..10-)
    (/note="ITAM"-)
  • Interpro: IPR026200  
  • PDB: 2L34 2L35 4WO1 4WOL
  • PDBsum: 2L34 2L35 4WO1 4WOL
  • STRING: ENSP00000262629
• Other Databases: GeneCards:  TYROBP  Malacards:  TYROBP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005102	signaling receptor binding	ISS	molecular function
GO:0005102	signaling receptor binding	TAS	molecular function
GO:1901216	positive regulation of neuron death	ISS	biological process
GO:0045081	negative regulation of interleukin-10 biosynthetic process	ISS	biological process
GO:0005623	obsolete cell	ISS	cellular component
GO:0005623	obsolete cell	ISS	cellular component
GO:0110090	positive regulation of hippocampal neuron apoptotic process	ISS	biological process
GO:1902685	positive regulation of receptor localization to synapse	ISS	biological process
GO:1900272	negative regulation of long-term synaptic potentiation	ISS	biological process
GO:0045410	positive regulation of interleukin-6 biosynthetic process	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	ISS	biological process
GO:0048678	response to axon injury	ISS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0097190	apoptotic signaling pathway	ISS	biological process
GO:0002282	microglial cell activation involved in immune response	ISS	biological process
GO:0050725	positive regulation of interleukin-1 beta biosynthetic process	ISS	biological process
GO:0032911	negative regulation of transforming growth factor beta1 production	ISS	biological process
GO:0032930	positive regulation of superoxide anion generation	ISS	biological process
GO:0030900	forebrain development	ISS	biological process
GO:0030889	negative regulation of B cell proliferation	IBA	biological process
GO:0032911	negative regulation of transforming growth factor beta1 production	IBA	biological process
GO:0045081	negative regulation of interleukin-10 biosynthetic process	IBA	biological process
GO:1904151	positive regulation of microglial cell mediated cytotoxicity	IBA	biological process
GO:0002282	microglial cell activation involved in immune response	IBA	biological process
GO:0002283	neutrophil activation involved in immune response	IBA	biological process
GO:0005102	signaling receptor binding	IBA	molecular function
GO:0009986	cell surface	IBA	cellular component
GO:0032816	positive regulation of natural killer cell activation	IBA	biological process
GO:0034241	positive regulation of macrophage fusion	IBA	biological process
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	IBA	biological process
GO:0045410	positive regulation of interleukin-6 biosynthetic process	IBA	biological process
GO:0050725	positive regulation of interleukin-1 beta biosynthetic process	IBA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0006968	cellular defense response	TAS	biological process
GO:0035556	intracellular signal transduction	TAS	biological process
GO:0007165	signal transduction	TAS	biological process
GO:0030316	osteoclast differentiation	IMP	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0030667	secretory granule membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0045087	innate immune response	TAS	biological process
GO:0050776	regulation of immune response	TAS	biological process
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:1904151	positive regulation of microglial cell mediated cytotoxicity	IEA	biological process
GO:0097190	apoptotic signaling pathway	IEA	biological process
GO:0048678	response to axon injury	IEA	biological process
GO:0045081	negative regulation of interleukin-10 biosynthetic process	IEA	biological process
GO:0032930	positive regulation of superoxide anion generation	IEA	biological process
GO:0032911	negative regulation of transforming growth factor beta1 production	IEA	biological process
GO:0030889	negative regulation of B cell proliferation	IEA	biological process
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0007229	integrin-mediated signaling pathway	IEA	biological process
GO:0005623	obsolete cell	IEA	cellular component
GO:2001206	positive regulation of osteoclast development	IEA	biological process
GO:2001204	regulation of osteoclast development	IEA	biological process
GO:1902685	positive regulation of receptor localization to synapse	IEA	biological process
GO:1901216	positive regulation of neuron death	IEA	biological process
GO:1900272	negative regulation of long-term synaptic potentiation	IEA	biological process
GO:0110090	positive regulation of hippocampal neuron apoptotic process	IEA	biological process
GO:0050725	positive regulation of interleukin-1 beta biosynthetic process	IEA	biological process
GO:0045410	positive regulation of interleukin-6 biosynthetic process	IEA	biological process
GO:0043277	apoptotic cell clearance	IEA	biological process
GO:0042535	positive regulation of tumor necrosis factor biosynthetic process	IEA	biological process
GO:0034241	positive regulation of macrophage fusion	IEA	biological process
GO:0032816	positive regulation of natural killer cell activation	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0030316	osteoclast differentiation	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0002283	neutrophil activation involved in immune response	IEA	biological process
GO:0002282	microglial cell activation involved in immune response	IEA	biological process
GO:0002281	macrophage activation involved in immune response	IEA	biological process
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0050821	protein stabilization	IDA	biological process
GO:0002274	myeloid leukocyte activation	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:2001206	positive regulation of osteoclast development	ISS	biological process
GO:0043277	apoptotic cell clearance	ISS	biological process
GO:0002282	microglial cell activation involved in immune response	ISS	biological process
GO:0030036	actin cytoskeleton organization	ISS	biological process
GO:0034241	positive regulation of macrophage fusion	IMP	biological process
GO:0030889	negative regulation of B cell proliferation	IMP	biological process
GO:0050821	protein stabilization	IMP	biological process
GO:1904151	positive regulation of microglial cell mediated cytotoxicity	ISS	biological process
GO:2000010	positive regulation of protein localization to cell surface	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa04380	Osteoclast differentiation
hsa04650	Natural killer cell mediated cytotoxicity

Diseases

Associated diseases	References
Nasu-Hakola disease	KEGG:H00438
Nasu-Hakola disease	KEGG:H00438
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R