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Aliases for TYROBP Gene

Aliases for TYROBP Gene

  • TYRO Protein Tyrosine Kinase Binding Protein 2 3 5
  • DNAX-Activation Protein 12 2 3 4
  • Killer-Activating Receptor-Associated Protein 3 4
  • KAR-Associated Protein 3 4
  • DAP12 3 4
  • KARAP 3 4
  • Killer Activating Receptor Associated Protein 2
  • TYRO Protein Tyrosine Kinase-Binding Protein 3
  • PLOSL 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 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Immune System. GO annotations related to this gene include identical protein binding and signal transducer activity, downstream of receptor.

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

Enhancers for TYROBP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F035913 1.4 FANTOM5 ENCODE 16.6 -5.7 -5680 1.0 HDGF PKNOX1 ZNF362 MTA2 JUNB TRIM22 EBF1 TBX21 ZNF121 ZNF302 TYROBP APLP1 NPHS1 KIRREL2 NFKBID SDHAF1 HCST FFAR2 IGFLR1 U2AF1L4
GH19F035927 1.5 FANTOM5 Ensembl ENCODE 16.4 -21.9 -21904 5.6 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 ZNF345 ZNF850 ZNF567 KMT2B HAUS5 TMEM147-AS1 ZNF792 RBM42 ENSG00000267049 ZNF790-AS1
GH19F035897 1.3 FANTOM5 ENCODE 15 +4.3 4252 13.0 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF302 TMEM147-AS1 ZNF345 ZNF850 KMT2B ZNF792 RBM42 ENSG00000267049 ZNF790-AS1 ZNF529-AS1 ZNF790
GH19F035429 1.3 FANTOM5 Ensembl ENCODE 11.4 +477.5 477472 2.4 PKNOX1 ZNF493 ZFP64 ZNF155 ZEB1 ZNF354C ZNF138 KLF7 ZNF548 ZNF202 TMEM147-AS1 HAUS5 KMT2B ZNF792 RBM42 ZNF146 ZFP82 ENSG00000267049 SDHAF1 LINC00665
GH19F035915 0.6 FANTOM5 9.6 -7.3 -7297 0.1 MTA2 POLR2A BHLHE40 IKZF1 TBX21 SPI1 APLP1 NPHS1 KIRREL2 SDHAF1 TYROBP NFKBID HCST IGFLR1 FFAR2 U2AF1L4
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TYROBP on UCSC Golden Path with GeneCards custom track

Promoters for TYROBP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001817303 309 1201 BCOR ZBTB10 NR2F1 ELF1 BCL11B ZBTB7A RARA ZNF664 GLIS2 NR2F6

Genomic Location for TYROBP Gene

Chromosome:
19
Start:
35,904,401 bp from pter
End:
35,908,309 bp from pter
Size:
3,909 bases
Orientation:
Minus strand

Genomic View for TYROBP Gene

Genes around TYROBP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TYROBP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for TYROBP Gene

Antibody Products

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

No data available for DME Specific Peptides for TYROBP Gene

Domains & Families 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 :
  • Contains 1 ITAM domain.
  • Belongs to the TYROBP family.
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 signal transducer activity, downstream of receptor 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

Human Phenotype Ontology for TYROBP Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TYROBP Gene

MGI Knock Outs for TYROBP:

Animal Model Products

  • Taconic Biosciences Mouse Models for TYROBP

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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 5
extracellular 3
cytoskeleton 1
cytosol 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for TYROBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9490415
GO:0009986 cell surface IDA 15294961
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TYROBP: view

Pathways & Interactions for TYROBP Gene

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

Pathways by source for TYROBP Gene

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

No data available for SIGNOR curated interactions for TYROBP Gene

Drugs & Compounds for TYROBP Gene

(2) Drugs for TYROBP Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for TYROBP Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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 (x34.0).

Protein differential expression in normal tissues from HIPED for TYROBP Gene

This gene is overexpressed in Monocytes (23.3), Peripheral blood mononuclear cells (20.9), NK cells (7.6), and Pancreas (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TYROBP Gene



Protein tissue co-expression partners for TYROBP Gene

NURSA nuclear receptor signaling pathways regulating expression of TYROBP Gene:

TYROBP

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 expression patterns with TYROBP: view

Primer 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 34 35
  • 98.53 (n)
cow
(Bos Taurus)
Mammalia TYROBP 34 35
  • 85.63 (n)
dog
(Canis familiaris)
Mammalia TYROBP 34 35
  • 83.18 (n)
rat
(Rattus norvegicus)
Mammalia Tyrobp 34
  • 77.08 (n)
mouse
(Mus musculus)
Mammalia Tyrobp 34 16 35
  • 75.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 59 (a)
OneToMany
-- 35
  • 58 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TYROBP 35
  • 51 (a)
OneToOne
Species where no ortholog for TYROBP was found in the sources mined by GeneCards:
  • 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
rs104894732 Pathogenic 35,908,227(-) CTTCA(C/T)GGGGG nc-transcript-variant, reference, missense
rs386833839 Likely pathogenic 35,907,559(-) GGTGA(A/G)CCCGG nc-transcript-variant, reference, missense
rs386833841 Likely pathogenic 35,907,530(-) TGATG(C/G)GAGAC nc-transcript-variant, reference, missense
rs386833842 Likely pathogenic 35,907,232(-) AGACC(G/T)AGTCG nc-transcript-variant, reference, stop-gained
rs77782321 Benign 35,907,512(+) GAGCA(A/C)TGTCA nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
dgv51n68 CNV loss 17160897

Variation tolerance for TYROBP Gene

Residual Variation Intolerance Score: 84.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.75; 46.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TYROBP Gene

Human Gene Mutation Database (HGMD)
TYROBP
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TYROBP

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

Disorders for TYROBP Gene

MalaCards: The human disease database

(6) MalaCards diseases for TYROBP Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
nasu-hakola disease
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
  • tyrobp-related plosl
dementia
  • presenile dementia
solitary bone cyst
  • unicameral bone cyst
basal ganglia calcification
  • fahr disease
- elite association - COSMIC cancer census association via MalaCards

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. {ECO:0000269 PubMed:10888890, ECO:0000269 PubMed:12370476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TYROBP

Genetic Association Database (GAD)
TYROBP
Human Genome Epidemiology (HuGE) Navigator
TYROBP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TYROBP
genes like me logo Genes that share disorders with TYROBP: view

No data available for Genatlas for TYROBP Gene

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 22 64
  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 22 64
  3. Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms. (PMID: 12370476) Kondo T. … Yamamura T. (Neurology 2002) 3 4 22 64
  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 64
  5. Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot". (PMID: 20628624) Johnatty S.E. … . (PLoS Genet. 2010) 3 46 64

Products for TYROBP Gene

Sources for TYROBP Gene

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