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Aliases for TYROBP Gene

Aliases for TYROBP Gene

  • TYRO Protein Tyrosine Kinase Binding Protein 2 3
  • DNAX-Activation Protein 12 2 3 4
  • DAP12 3 4 6
  • Killer-Activating Receptor-Associated Protein 3 4
  • KAR-Associated Protein 3 4
  • PLOSL 3 6
  • KARAP 3 4
  • Killer Activating Receptor Associated Protein 2
  • TYRO Protein Tyrosine Kinase-Binding Protein 3

External Ids for TYROBP Gene

Previous HGNC Symbols for TYROBP Gene

  • PLOSL

Previous GeneCards Identifiers for TYROBP Gene

  • GC19M037030
  • GC19M036844
  • GC19M041071
  • GC19M041087
  • GC19M036395
  • GC19M032900

Summaries for TYROBP Gene

Entrez Gene Summary for TYROBP Gene

  • 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]

GeneCards Summary for TYROBP Gene

TYROBP (TYRO Protein Tyrosine Kinase Binding Protein) is a Protein Coding gene. Diseases associated with TYROBP include nasu-hakola disease and tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Among its related pathways are Signaling by FGFR and Signaling by FGFR. GO annotations related to this gene include identical protein binding and receptor signaling protein activity.

UniProtKB/Swiss-Prot for TYROBP Gene

  • Non-covalently associates with activating receptors of the CD300 family. Cross-linking of CD300-TYROBP complexes results in cellular activation. Involved for instance in neutrophil activation mediated by integrin

Gene Wiki entry for TYROBP Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TYROBP Gene

Genomics for TYROBP Gene

Regulatory Elements for TYROBP Gene

Genomic Location for TYROBP Gene

Start:
35,904,401 bp from pter
End:
35,908,515 bp from pter
Size:
4,115 bases
Orientation:
Minus strand

Genomic View for TYROBP Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TYROBP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TYROBP Gene

Proteins for TYROBP Gene

  • Protein details for TYROBP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43914-TYOBP_HUMAN
    Recommended name:
    TYRO protein tyrosine kinase-binding protein
    Protein Accession:
    O43914
    Secondary Accessions:
    • A8K2X0
    • F5H389
    • Q6FGA5
    • Q9UMT3

    Protein attributes for TYROBP Gene

    Size:
    113 amino acids
    Molecular mass:
    12179 Da
    Quaternary structure:
    • Homodimer; disulfide-linked. Interacts with SIRPB1 and TREM1. Interacts with CLECSF5. Interacts with SIGLEC14. Interacts with CD300LB and CD300E. Interacts with CD300D (By similarity). Interacts (via ITAM domain) with SYK (via SH2 domains); activates SYK mediating neutrophils and macrophages integrin-mediated activation (By similarity). Interacts with KLRC2 and KIR2DS3.

    Three dimensional structures from OCA and Proteopedia for TYROBP Gene

    Alternative splice isoforms for TYROBP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TYROBP Gene

Proteomics data for TYROBP Gene at MOPED

Post-translational modifications for TYROBP Gene

Other Protein References for TYROBP Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for TYROBP (TyroBP)

No data available for DME Specific Peptides for TYROBP Gene

Domains for TYROBP Gene

Protein Domains for TYROBP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TYROBP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43914

UniProtKB/Swiss-Prot:

TYOBP_HUMAN :
  • O43914
Domain:
  • Contains 1 ITAM domain.
Family:
  • Belongs to the TYROBP family.
genes like me logo Genes that share domains with TYROBP: view

No data available for Gene Families for TYROBP Gene

Function for TYROBP Gene

Molecular function for TYROBP Gene

GENATLAS Biochemistry: TYR O protein tyrosine kinase binding protein,expressed in monocytes and dentritic cells as a disulfide-bonded dimer,associating with natural killer cell receptors lacking ITIM sequence (see KIRDS1 to 5),resulting in cellular activation
UniProtKB/Swiss-Prot Function: Non-covalently associates with activating receptors of the CD300 family. Cross-linking of CD300-TYROBP complexes results in cellular activation. Involved for instance in neutrophil activation mediated by integrin

Gene Ontology (GO) - Molecular Function for TYROBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005057 receptor signaling protein activity TAS 9490415
GO:0005102 receptor binding IPI 11602640
GO:0005515 protein binding IPI 10940905
GO:0042802 identical protein binding IPI 20890284
genes like me logo Genes that share ontologies with TYROBP: view
genes like me logo Genes that share phenotypes with TYROBP: view

Animal Models for TYROBP Gene

MGI Knock Outs for TYROBP:

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TYROBP

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for TYROBP Gene

Localization for TYROBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for TYROBP Gene

Membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TYROBP Gene COMPARTMENTS Subcellular localization image for TYROBP gene
Compartment Confidence
plasma membrane 4
extracellular 3
cytoskeleton 1
cytosol 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TYROBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9490415
GO:0009986 cell surface IDA 15294961
genes like me logo Genes that share ontologies with TYROBP: view

Pathways for TYROBP Gene

genes like me logo Genes that share pathways with TYROBP: view

Pathways by source for TYROBP Gene

1 Qiagen pathway for TYROBP Gene
1 Cell Signaling Technology pathway for TYROBP Gene
1 GeneGo (Thomson Reuters) pathway for TYROBP Gene

Gene Ontology (GO) - Biological Process for TYROBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002281 macrophage activation involved in immune response IEA --
GO:0002283 neutrophil activation involved in immune response IEA --
GO:0006968 cellular defense response TAS 9490415
GO:0007165 signal transduction TAS 9490415
GO:0007229 integrin-mediated signaling pathway IEA --
genes like me logo Genes that share ontologies with TYROBP: view

Compounds for TYROBP Gene

(3) Novoseek inferred chemical compound relationships for TYROBP Gene

Compound -log(P) Hits PubMed IDs
tyrosine 29.6 10
lysine 20.1 1
aspartate 3.6 1
genes like me logo Genes that share compounds with TYROBP: view

Transcripts for TYROBP Gene

Unigene Clusters for TYROBP Gene

TYRO protein tyrosine kinase binding protein:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for TYROBP

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TYROBP Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4 ^ 5a · 5b · 5c · 5d
SP1: -
SP2: - -
SP3: -
SP4:
SP5:
SP6:

Relevant External Links for TYROBP Gene

GeneLoc Exon Structure for
TYROBP
ECgene alternative splicing isoforms for
TYROBP

Expression for TYROBP Gene

mRNA expression in normal human tissues for TYROBP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TYROBP Gene

This gene is overexpressed in Whole Blood (34.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TYROBP Gene

SOURCE GeneReport for Unigene cluster for TYROBP Gene Hs.515369

mRNA Expression by UniProt/SwissProt for TYROBP Gene

O43914-TYOBP_HUMAN
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 spleen. Also found in bone marrow, lymph nodes, placenta, lung and liver. Expressed at lower levels in different parts of the brain especially in the basal ganglia and corpus callosum.
genes like me logo Genes that share expressions with TYROBP: view

In Situ Assay Products

Orthologs for TYROBP Gene

This gene was present in the common ancestor of mammals.

Orthologs for TYROBP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TYROBP 35
  • 98.53 (n)
  • 97.35 (a)
TYROBP 36
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TYROBP 35
  • 85.63 (n)
  • 78.9 (a)
TYROBP 36
  • 79 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TYROBP 35
  • 83.18 (n)
  • 78.38 (a)
TYROBP 36
  • 74 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tyrobp 35
  • 75.6 (n)
  • 75 (a)
Tyrobp 16
Tyrobp 36
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TYROBP 36
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Tyrobp 35
  • 77.08 (n)
  • 72.32 (a)
Species with no ortholog for TYROBP:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for TYROBP Gene

ENSEMBL:
Gene Tree for TYROBP (if available)
TreeFam:
Gene Tree for TYROBP (if available)

Paralogs for TYROBP Gene

No data available for Paralogs for TYROBP Gene

Variants for TYROBP Gene

Sequence variations from dbSNP and Humsavar for TYROBP Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs3817624 -- 35,907,997(+) GCGGA(C/T)GACAA intron-variant
rs4471822 -- 35,909,843(+) AGCAG(C/G)GCTCT upstream-variant-2KB
rs4806226 -- 35,906,397(+) AAAAA(A/T)TTTTT intron-variant
rs4806227 -- 35,910,110(+) GAGGC(A/G)GGCGG upstream-variant-2KB
rs7258962 -- 35,908,788(+) CACCT(C/T)GGCCT upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for TYROBP Gene

Variant ID Type Subtype PubMed ID
nsv911638 CNV Loss 21882294
dgv51n68 CNV Loss 17160897

Relevant External Links for TYROBP Gene

HapMap Linkage Disequilibrium report
TYROBP
Human Gene Mutation Database (HGMD)
TYROBP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TYROBP Gene

Disorders for TYROBP Gene

(1) OMIM Diseases for TYROBP Gene (604142)

UniProtKB/Swiss-Prot

TYOBP_HUMAN
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL) [MIM:221770]: Recessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to presenile dementia and bone cysts restricted to wrists and ankles. PLOSL has a global distribution, although most of the patients have been diagnosed in Finland and Japan, with an estimated population prevalence of 2x10(-6) in the Finns. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for TYROBP Gene

(8) Novoseek inferred disease relationships for TYROBP Gene

Disease -log(P) Hits PubMed IDs
nasu-hakola disease 97.9 24
lipomembranous polycystic osteodysplasia 97.1 2
dementia presenile 86.2 2
bone cysts 78.2 3
dementia 33.8 5

Relevant External Links for TYROBP

GeneTests
TYROBP
GeneReviews
TYROBP
Genetic Association Database (GAD)
TYROBP
Human Genome Epidemiology (HuGE) Navigator
TYROBP
genes like me logo Genes that share disorders with TYROBP: view

Publications for TYROBP Gene

  1. Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. (PMID: 10888890) Paloneva J. … Peltonen L. (Nat. Genet. 2000) 2 3 4 23
  2. TREM-1, MDL-1, and DAP12 expression is associated with a mature stage of myeloid development. (PMID: 11922939) Gingras M.-C. … Margolin J.F. (Mol. Immunol. 2002) 3 4 23
  3. Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms. (PMID: 12370476) Kondo T. … Yamamura T. (Neurology 2002) 3 4 23
  4. Immunoreceptor DAP12 bearing a tyrosine-based activation motif is involved in activating NK cells. (PMID: 9490415) Lanier L.L. … Phillips J.H. (Nature 1998) 2 3 4
  5. Myeloid DAP12-associating lectin (MDL)-1 regulates synovial inflammation and bone erosion associated with autoimmune arthritis. (PMID: 20212065) Joyce-Shaikh B. … Cua D.J. (J. Exp. Med. 2010) 3 23

Products for TYROBP Gene

Sources for TYROBP Gene

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