TYROBP (transmembrane immune signaling adaptor TYROBP)

2009-05-01  

Identity

HGNC
TYROBP
LOCATION
19q13.12
LOCUSID
7305
ALIAS
DAP12,KARAP,PLOSL,PLOSL1

Other Information

Locus ID:

NCBI: 7305
MIM: 604142
HGNC: 12449
Ensembl: ENSG00000011600

Variants:

dbSNP: 7305
ClinVar: 7305
TCGA: ENSG00000011600
COSMIC: TYROBP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000011600ENST00000262629O43914
ENSG00000011600ENST00000424586X6RGC9
ENSG00000011600ENST00000544690O43914
ENSG00000011600ENST00000585901K7ES93
ENSG00000011600ENST00000586946K7EKK0
ENSG00000011600ENST00000587837K7EKK0
ENSG00000011600ENST00000589517O43914

Expression (GTEx)

0
500
1000
1500
2000
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Natural killer cell mediated cytotoxicityKEGGko04650
Natural killer cell mediated cytotoxicityKEGGhsa04650
Osteoclast differentiationKEGGko04380
Osteoclast differentiationKEGGhsa04380
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cellREACTOMER-HSA-198933
Innate Immune SystemREACTOMER-HSA-168249
DAP12 interactionsREACTOMER-HSA-2172127
DAP12 signalingREACTOMER-HSA-2424491
Cell-Cell communicationREACTOMER-HSA-1500931
Signal regulatory protein (SIRP) family interactionsREACTOMER-HSA-391160
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
Semaphorin interactionsREACTOMER-HSA-373755
Other semaphorin interactionsREACTOMER-HSA-416700
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
120804852002Mutations in two genes encoding different subunits of a receptor signaling complex result in an identical disease phenotype.200
266420912016Injured sensory neuron-derived CSF1 induces microglial proliferation and DAP12-dependent pain.98
191204822009DAP10- and DAP12-associated receptors in innate immunity.97
129256812003DAP12/TREM2 deficiency results in impaired osteoclast differentiation and osteoporotic features.79
172023232007Cutting Edge: KIR3DS1, a gene implicated in resistance to progression to AIDS, encodes a DAP12-associated receptor expressed on NK cells that triggers NK cell activation.67
218413092011OSCAR is a collagen receptor that costimulates osteoclastogenesis in DAP12-deficient humans and mice.63
263370432015TREM2 in CNS homeostasis and neurodegenerative disease.45
259574022015DAP12 Stabilizes the C-terminal Fragment of the Triggering Receptor Expressed on Myeloid Cells-2 (TREM2) and Protects against LPS-induced Pro-inflammatory Response.40
163395172005Silencing human NKG2D, DAP10, and DAP12 reduces cytotoxicity of activated CD8+ T cells and NK cells.37
147070612004NKp44 triggers NK cell activation through DAP12 association that is not influenced by a putative cytoplasmic inhibitory sequence.32

Citation

Dessen P

TYROBP (transmembrane immune signaling adaptor TYROBP)

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/gene/50904/tyrobp