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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
  • 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 Immune response Role of DAP12 receptors in NK cells and Osteoclast differentiation. 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

Enhancers for TYROBP Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around TYROBP on UCSC Golden Path with GeneCards custom track

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

Proteomics data for TYROBP Gene at MOPED

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.
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

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 TAS 9490415
GO:0016021 integral component of 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:0007165 signal transduction TAS 9490415
GO:0007229 integrin-mediated signaling pathway IEA --
GO:0007411 axon guidance TAS --
GO:0035556 intracellular signal transduction TAS 9490415
GO:0045087 innate immune response TAS --
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:

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



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

Protein tissue co-expression partners for TYROBP Gene

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
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
chimpanzee
(Pan troglodytes)
Mammalia TYROBP 35
  • 98.53 (n)
  • 97.35 (a)
TYROBP 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tyrobp 35
  • 77.08 (n)
  • 72.32 (a)
oppossum
(Monodelphis domestica)
Mammalia TYROBP 36
  • 51 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
-- 36
  • 58 (a)
OneToMany
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
VAR_011985 -
rs7258962 -- 35,908,788(+) CACCT(C/T)GGCCT upstream-variant-2KB
rs7260613 -- 35,906,543(+) TCTAG(A/G)ACTCC intron-variant
rs17173033 -- 35,908,797(-) CACTT(C/T)GGGAG upstream-variant-2KB
rs17549166 -- 35,909,186(-) GGGTT(C/T)CATTT 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

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

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

MalaCards: The human disease database

(8) 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
kohlschutter-tonz syndrome
  • dementia
solitary bone cyst
  • unicameral bone cyst
large granular lymphocyte leukemia
  • t-cell large granular lymphocyte leukemia
- 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 23 67
  2. 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
  3. A critical role for DAP10 and DAP12 in CD8+ T cell-mediated tissue damage in large granular lymphocyte leukemia. (PMID: 19075187) Chen X. … Wei S. (Blood 2009) 3 23
  4. Pattern of DAP12 expression in leukocytes from both healthy and systemic lupus erythematosus patients. (PMID: 19606219) Schleinitz N. … VAcly F. (PLoS ONE 2009) 3 23
  5. A novel compound heterozygous mutation in the DAP12 gene in a patient with Nasu-Hakola disease. (PMID: 17125796) Kuroda R. … Mizoguchi K. (J. Neurol. Sci. 2007) 3 23

Products for TYROBP Gene

Sources for TYROBP Gene

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