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 pro... See more...

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
  • TYRO Protein Tyrosine Kinase-Binding Protein 3 4
  • KAR-Associated Protein 3 4
  • DAP12 3 4
  • KARAP 3 4
  • Killer Activating Receptor Associated Protein 2
  • PLOSL1 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 Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 and Solitary Bone Cyst. Among its related pathways are Cell junction organization and Developmental Biology. Gene Ontology (GO) annotations related to this gene include identical protein binding and obsolete signal transducer activity, downstream of receptor.

UniProtKB/Swiss-Prot Summary for TYROBP Gene

  • Adapter protein which non-covalently associates with activating receptors found on the surface of a variety of immune cells to mediate signaling and cell activation following ligand binding by the receptors (PubMed:9490415, PubMed:9655483, PubMed:10604985). TYROBP is tyrosine-phosphorylated in the ITAM domain following ligand binding by the associated receptors which leads to activation of additional tyrosine kinases and subsequent cell activation (PubMed:9490415). Also has an inhibitory role in some cells (PubMed:21727189). Non-covalently associates with activating receptors of the CD300 family to mediate cell activation (PubMed:15557162, PubMed:16920917, PubMed:17928527; PubMed:26221034). Also mediates cell activation through association with activating receptors of the CD200R family (By similarity). Required for neutrophil activation mediated by integrin (By similarity). Required for the activation of myeloid cells mediated by the CLEC5A/MDL1 receptor (PubMed:10449773). Associates with natural killer (NK) cell receptors such as KIR2DS2 and the KLRD1/KLRC2 heterodimer to mediate NK cell activation (PubMed:9490415, PubMed:9655483, PubMed:23715743). Also enhances trafficking and cell surface expression of NK cell receptors KIR2DS1, KIR2DS2 and KIR2DS4 and ensures their stability at the cell surface (PubMed:23715743). Associates with SIRPB1 to mediate activation of myeloid cells such as monocytes and dendritic cells (PubMed:10604985). Associates with TREM1 to mediate activation of neutrophils and monocytes (PubMed:10799849). Associates with TREM2 on monocyte-derived dendritic cells to mediate up-regulation of chemokine receptor CCR7 and dendritic cell maturation and survival (PubMed:11602640). Association with TREM2 mediates cytokine-induced formation of multinucleated giant cells which are formed by the fusion of macrophages (PubMed:18957693). Stabilizes the TREM2 C-terminal fragment (TREM2-CTF) produced by TREM2 ectodomain shedding which suppresses the release of pro-inflammatory cytokines (PubMed:25957402). In microglia, required with TREM2 for phagocytosis of apoptotic neurons (By similarity). Required with ITGAM/CD11B in microglia to control production of microglial superoxide ions which promote the neuronal apoptosis that occurs during brain development (By similarity). Promotes proinflammatory responses in microglia following nerve injury which accelerates degeneration of injured neurons (By similarity). Positively regulates the expression of the IRAK3/IRAK-M kinase and IL10 production by liver dendritic cells and inhibits their T cell allostimulatory ability (By similarity). Negatively regulates B cell proliferation (PubMed:21727189). Required for CSF1-mediated osteoclast cytoskeletal organization (By similarity). Positively regulates multinucleation during osteoclast development (By similarity).

Gene Wiki entry for TYROBP Gene

Additional gene information for TYROBP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TYROBP Gene

Genomics for TYROBP Gene

GeneHancer (GH) Regulatory Elements for TYROBP Gene

Promoters and enhancers for TYROBP Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J035897 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 764.9 +4.3 4251 13 ZNF785 SIN3A SP1 ZBTB40 ZBTB6 SMARCE1 POLR2A USF2 NR2F6 CREB1 NFKBID TYROBP HCST ENSG00000280194 ZNF567 ZNF790 TMEM147-AS1 ZNF260 ZNF345 ZNF461
GH19J035927 Promoter/Enhancer 1.6 FANTOM5 ENCODE CraniofacialAtlas 16.4 -22.1 -22124 5.2 SP1 ZBTB40 CTCF SREBF1 SIX5 ZBTB6 FOXA1 MLX RBPJ POLR2A lnc-TYROBP-3 ZNF567 ZNF850 ZNF345 HAUS5 TMEM147-AS1 KMT2B ZNF792 ZNF260 RBM42
GH19J035912 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE 16.7 -5.7 -5679 1 ZNF362 ZNF121 MLLT1 CREM IKZF1 TRIM22 IKZF2 PKNOX1 DPF2 BCL11A TYROBP APLP1 NPHS1 KIRREL2 NFKBID SDHAF1 HCST FFAR2 IGFLR1 U2AF1L4
GH19J035435 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.2 +471.6 471576 2.7 SMARCE1 ETV6 ELF1 SP1 MAFK SMARCA4 PRDM1 MTA1 IKZF1 CEBPA lnc-FFAR2-2 NFKBID TMEM147-AS1 FFAR2 KRTDAP DMKN CD22 ZNF599 SBSN FAM187B
GH19J035430 Promoter/Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 11.4 +476.9 476908 1.6 ZNF280D ZNF548 PKNOX1 MAFG ZNF610 KDM1A ZNF558 ZNF169 HDAC1 NFKBID ZNF792 FFAR2 ZFP14 RBM42 TYROBP KMT2B KRTDAP DMKN HAUS5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TYROBP on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TYROBP gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • NF-kappaB
  • NF-kappaB1

Genomic Locations for TYROBP Gene

Genomic Locations for TYROBP Gene
chr19:35,904,401-35,908,309
(GRCh38/hg38)
Size:
3,909 bases
Orientation:
Minus strand
chr19:36,395,303-36,399,211
(GRCh37/hg19)
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 (PubMed:20890284). Homotrimer; disulfide-linked (PubMed:25981043). Homotetramer; disulfide-linked (PubMed:25981043). Homotrimers and homotetramers form when low levels of partner receptors are available and are competitive with assembly with interacting receptors (PubMed:25981043). They may represent alternative oligomerization states or may be intermediates in the receptor assembly process (PubMed:25981043). Binding of a metal cation aids in homooligomerization through coordination of the metal ion by the subunits of the oligomer (PubMed:25981043). Interacts with TREM1 (PubMed:10799849). Interacts with TREM2 (PubMed:11602640, PubMed:25957402). Interacts with SIRPB1 (PubMed:10604985). Interacts with CLECSF5 (PubMed:10449773). Interacts with SIGLEC14 (PubMed:17012248). Interacts with CD300LB and CD300E (PubMed:15557162, PubMed:16920917, PubMed:17928527). Interacts with CD300C2 (By similarity). Interacts (via ITAM domain) with SYK (via SH2 domains); activates SYK mediating neutrophil and macrophage integrin-mediated activation (By similarity). Interacts with KLRC2, KIR2DS3 and KIR2DS5 (PubMed:18624290, PubMed:20890284). Interacts with CD300H (PubMed:26221034). Interacts with KIR2DS1 (PubMed:23715743). Interacts with KLRD1 (PubMed:9655483).

    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

  • Following ligand binding by associated receptors, tyrosine phosphorylated in the ITAM domain which leads to activation of additional tyrosine kinases and subsequent cell activation.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for TYROBP

No data available for DME Specific Peptides for TYROBP Gene

Domains & Families for TYROBP Gene

Gene Families for TYROBP Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for TYROBP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TYROBP Gene

GenScript: Design optimal peptide antigens:
  • Killer-activating receptor-associated protein (TYOBP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O43914

UniProtKB/Swiss-Prot:

TYOBP_HUMAN :
  • Belongs to the TYROBP family.
Family:
  • Belongs to the TYROBP family.
genes like me logo Genes that share domains with TYROBP: view

Function for TYROBP Gene

Molecular function for TYROBP Gene

UniProtKB/Swiss-Prot Function:
Adapter protein which non-covalently associates with activating receptors found on the surface of a variety of immune cells to mediate signaling and cell activation following ligand binding by the receptors (PubMed:9490415, PubMed:9655483, PubMed:10604985). TYROBP is tyrosine-phosphorylated in the ITAM domain following ligand binding by the associated receptors which leads to activation of additional tyrosine kinases and subsequent cell activation (PubMed:9490415). Also has an inhibitory role in some cells (PubMed:21727189). Non-covalently associates with activating receptors of the CD300 family to mediate cell activation (PubMed:15557162, PubMed:16920917, PubMed:17928527; PubMed:26221034). Also mediates cell activation through association with activating receptors of the CD200R family (By similarity). Required for neutrophil activation mediated by integrin (By similarity). Required for the activation of myeloid cells mediated by the CLEC5A/MDL1 receptor (PubMed:10449773). Associates with natural killer (NK) cell receptors such as KIR2DS2 and the KLRD1/KLRC2 heterodimer to mediate NK cell activation (PubMed:9490415, PubMed:9655483, PubMed:23715743). Also enhances trafficking and cell surface expression of NK cell receptors KIR2DS1, KIR2DS2 and KIR2DS4 and ensures their stability at the cell surface (PubMed:23715743). Associates with SIRPB1 to mediate activation of myeloid cells such as monocytes and dendritic cells (PubMed:10604985). Associates with TREM1 to mediate activation of neutrophils and monocytes (PubMed:10799849). Associates with TREM2 on monocyte-derived dendritic cells to mediate up-regulation of chemokine receptor CCR7 and dendritic cell maturation and survival (PubMed:11602640). Association with TREM2 mediates cytokine-induced formation of multinucleated giant cells which are formed by the fusion of macrophages (PubMed:18957693). Stabilizes the TREM2 C-terminal fragment (TREM2-CTF) produced by TREM2 ectodomain shedding which suppresses the release of pro-inflammatory cytokines (PubMed:25957402). In microglia, required with TREM2 for phagocytosis of apoptotic neurons (By similarity). Required with ITGAM/CD11B in microglia to control production of microglial superoxide ions which promote the neuronal apoptosis that occurs during brain development (By similarity). Promotes proinflammatory responses in microglia following nerve injury which accelerates degeneration of injured neurons (By similarity). Positively regulates the expression of the IRAK3/IRAK-M kinase and IL10 production by liver dendritic cells and inhibits their T cell allostimulatory ability (By similarity). Negatively regulates B cell proliferation (PubMed:21727189). Required for CSF1-mediated osteoclast cytoskeletal organization (By similarity). Positively regulates multinucleation during osteoclast development (By similarity).
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

Gene Ontology (GO) - Molecular Function for TYROBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding TAS 15601948
GO:0005515 protein binding IPI 10049942
GO:0042802 identical protein binding IPI 20890284
GO:0046872 metal ion binding IEA --
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

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for TYROBP Gene

Localization for TYROBP Gene

Subcellular locations from UniProtKB/Swiss-Prot for TYROBP Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TYROBP gene
Compartment Confidence
plasma membrane 5
extracellular 3
cytoskeleton 1
nucleus 1
peroxisome 0
cytosol 0
lysosome 0

Gene Ontology (GO) - Cellular Components for TYROBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell ISS --
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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TYROBP Gene

Pathways & Interactions 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
  • TREM1 Pathway
1 Cell Signaling Technology pathway for TYROBP Gene

Gene Ontology (GO) - Biological Process for TYROBP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002274 myeloid leukocyte activation IDA 10604985
GO:0002281 macrophage activation involved in immune response IEA --
GO:0002282 microglial cell activation involved in immune response ISS --
GO:0002283 neutrophil activation involved in immune response IEA --
GO:0002376 immune system process 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

CRISPR Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 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.

Evidence on tissue expression from TISSUES for TYROBP Gene

  • Blood(4.8)
  • Nervous system(4.5)
  • Spleen(3.5)
  • Lymph node(3.1)
  • Bone marrow(3)
  • Lung(2.9)
  • Intestine(2.1)
  • Heart(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TYROBP Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
  • prostate
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TYROBP: view

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 33 32
  • 98.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia TYROBP 33 32
  • 85.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TYROBP 33 32
  • 83.18 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tyrobp 32
  • 77.08 (n)
mouse
(Mus musculus)
Mammalia Tyrobp 17 33 32
  • 75.6 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 59 (a)
OneToMany
-- 33
  • 58 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TYROBP 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for TYROBP: view image

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 Variation AA Info Type
rs104894732 pathogenic, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 35,908,227(-) A/G initiator_codon_variant, missense_variant, non_coding_transcript_variant
rs111477177 likely-benign, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 35,907,552(-) G/A/C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs113207157 uncertain-significance, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 35,904,429(-) A/G 3_prime_UTR_variant, non_coding_transcript_variant
rs140188939 likely-benign, not specified, - 35,907,256(-) G/A/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs14715 likely-benign, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 35,904,486(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant

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)

Additional Variant Information 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

(8) MalaCards diseases for TYROBP Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TYOBP_HUMAN
  • Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 (PLOSL1) [MIM:221770]: A recessively inherited disease characterized by presenile dementia along with large-scale destruction of cancellous bones. Initial symptoms, starting in the twenties, are pain and swelling resulting from cysts in the wrists and ankles. Extremity bone fractures could occur with minor trauma. At around 30 years of age, patients gradually develop neuropsychiatric symptoms, including epileptic seizures, agnosia, apraxia, speech disorder, memory disturbance, euphoria, and loss of social inhibitions. The disorder usuallly leads to death in the fifth decade of life. {ECO:0000269 PubMed:10888890, ECO:0000269 PubMed:12370476}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TYROBP

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Nature genetics 2000) 2 3 4 23 56
  2. Essential role of DAP12 signaling in macrophage programming into a fusion-competent state. (PMID: 18957693) Helming L … Vivier E (Science signaling 2008) 3 4 23 56
  3. TREM-1, MDL-1, and DAP12 expression is associated with a mature stage of myeloid development. (PMID: 11922939) Gingras MC … Margolin JF (Molecular immunology 2002) 3 4 23 56
  4. Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms. (PMID: 12370476) Kondo T … Yamamura T (Neurology 2002) 3 4 23 56
  5. Association of DAP12 with activating CD94/NKG2C NK cell receptors. (PMID: 9655483) Lanier LL … Phillips JH (Immunity 1998) 3 4 23 56

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