Aliases &
Descriptions
for TYROBP gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| TYRO protein tyrosine kinase binding protein1 2 | | KAR-associated protein2 3 | | DAP121 2 3 5 | | PLOSL2 5 | | KARAP1 2 3 | | PLO-SL1 | | Killer-activating receptor-associated protein2 3 | | TYRO protein tyrosine kinase-binding protein2 | | DNAX-activation protein 122 3 | | killer activating receptor associated protein2 |
Export aliases for TYROBP gene to outside databasesPrevious GC identifers: GC19M037030 GC19M036844 GC19M041071 GC19M041087 GC19M036395 |
Summaries
for TYROBP gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for TYROBP:
This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activationmotif (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 bindzeta-chain (TCR) associated protein kinase 70kDa (ZAP-70) and spleen tyrosine kinase (SYK) and play a role in signaltransduction, bone modeling, brain myelination, and inflammation. Mutations within this gene have been associated withpolycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as Nasu-Hakoladisease. Its putative receptor, triggering receptor expressed on myeloid cells 2 (TREM2), also causes PLOSL. Multiplealternative transcript variants encoding distinct isoforms have been identified for this gene. (provided by RefSeq)
UniProtKB/Swiss-Prot: TYOBP_HUMAN, O43914Function: Non-covalently associates with activating receptors of the CD300 family. Cross-linking of CD300-TYROBPcomplexes results in cellular activation
Gene Wiki entry for TYROBP |
Genomic Views
for TYROBP gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TYROBP gene promoter:
AP-1 NF-kappaB1 c-Jun c-Fos NRSF form 1 NRSF form 2 ATF-2 ATF GATA-1 FAC1
Other transcription factors
Search SABiosciences Chromatin IP Primers for TYROBP
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.1 Ensembl cytogenetic band: 19q13.12 HGNC cytogenetic band: 19q13.1TYROBP Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19M032900: view genomic region
(about GC identifiers)
Start:
|
32,900,548 bp from pter |
End:
|
32,904,456 bp from pter |
Size:
|
3,909 bases |
Orientation:
|
minus strand |
1 alternative location:
| Chr19- 36,395,312-36,399,186 |
RefSeq DNA sequence:- NC_000019.9 NT_011109.16
|
Proteins
for TYROBP gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: TYOBP_HUMAN, O43914 (See
protein sequence)Recommended Name: TYRO protein tyrosine kinase-binding protein precursor Size: 113 amino acids; 12179 Da
Subunit: Homodimer; disulfide-linked. Interacts with SIRPB1 and TREM1. Interacts with CLECSF5. Interacts with SIGLEC14.Interacts with CD300LB and CD300E. Interacts with CD300D (By similarity)
Subcellular location: Membrane; Single-pass type I membrane protein
Secondary accessions: A8K2X0 Q6FGA5 Q9UMT3Alternative splicing: 2 isoforms: O43914-1 O43914-2 Explore the universe of human proteins at neXtProt for TYROBP: NX_O43914
Post-translational modifications:
Tyrosine phosphorylated1
View phosphorylation sites using PhosphoSite2
REFSEQ proteins (4 alternative transcripts):
NP_001166985.1 NP_001166986.1 NP_003323.1 NP_937758.1
ENSEMBL proteins: ENSP00000402371 ENSP00000262629
Human Recombinant Proteins
2 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
TYROBP for ontologies About GeneDecksing
Antibodies for TYROBP:
Assays for TYROBP: |
Protein
Domains/
Families
for TYROBP gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: O43914 UniProtKB/Swiss-Prot: TYOBP_HUMAN, O43914Similarity: Belongs to the TYROBP family |
Gene Function
for TYROBP gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: TYOBP_HUMAN, O43914Function: Non-covalently associates with activating receptors of the CD300 family. Cross-linking of CD300-TYROBPcomplexes results in cellular activation
Genatlas biochemistry entry for TYROBP:TYR O protein tyrosine kinase binding protein,expressed in monocytes and dentritic cells as a disulfide-bondeddimer,associating with natural killer cell receptors lacking ITIM sequence (see KIRDS1 to 5),resulting in cellularactivation2 Gene Ontology (GO) molecular function terms (GO ID links to tree view): About this table
TYROBP for ontologies About GeneDecksing
Animal Models: 12 MGI mutant phenotypes (inferred from 5 alleles ) (MGI details for Tyrobp):
TYROBP for phenotypes About GeneDecksing
|
Pathways & Interactions
for TYROBP gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
TYROBP for pathways About GeneDecksing
1  Millipore Pathway for TYROBP
4  Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for TYROBP
1  Kegg Pathway (Kegg details for TYROBP):  | hsa04650 Natural killer cell mediated cytotoxicity |
SABiosciences Custom Pathway-Focused PCR Arrays for TYROBP
Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for TYROBP
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TYROBP
5/14 Interacting proteins for TYROBP (ENSP000002626293 O439141) via UniProtKB, MINT, and/or STRING (see all 14)About this table
5/6 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 6): About this table
TYROBP for ontologies About GeneDecksing
|
Drugs & Compounds
for TYROBP gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
TYROBP for compounds About GeneDecksing
 Browse Tocris compounds for TYROBP
3  Novoseek chemical compound relationships for TYROBP gene
About this table
2 PharmGKB drug compound relationships for TYROBP geneAbout this table
|
Transcripts
for TYROBP gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for TYROBP gene (4 alternative transcripts): NM_001173514.1 NM_001173515.1 NM_003332.3 NM_198125.2 Additional cDNA sequence: AF019562.1 AJ010098.1 AK290385.1 AY074782.1 BC011175.1 BT009851.1 CR450342.1 CR542202.1 6 DOTS entries: DT.415526 DT.95094139 DT.91737918 DT.121455821 DT.75102841 DT.95229269 24/133 AceView cDNA sequences (see all 133): BF914451 AW372144 AI017727 T57206 AI299346 AI289858 NM_003332 CR542202 AY074782 NM_198125 BX101840 AA746220 AI243983 CR450342 AI301688 AI306602 BU731675 BQ448586 AA918360 AJ010098 AI423526 AI302882 CK905918 BM694871
 highest scoring ESTs for TYROBP:W60864 AA318120 AA481924 AF019562 AI276798 AJ706379 AU076484 AU098708 AY074782 BC011175 Unigene Cluster for TYROBP: TYRO protein tyrosine kinase binding protein Hs.515369 [show with all ESTs]Unigene Representative Sequence: BI838734
GeneLoc Exon Structure
5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TYROBP (see all 6)
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | · | 5c | · | 5d |
|---|
|
| SP1: | | | | | | | | | | | - | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | - | | - | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | - | | | | | | | | | | | | | | |
| SP4: | | | | | | | | | | | | | | | | | | | | | | | | | |
| SP5: | | | | | | | | | | | | | | | | | | | | | | | | |
About this scheme
ECgene alternative splicing isoforms for TYROBP
2 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000424586 ENST00000262629(uc002ocm.2 uc002ocn.2)
|
Expression
for TYROBP gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| TYROBP expression in normal and diseased human tissues
1 / 2 / 3 3 probe-sets matching TYROBP gene
Affymetrix
probe-set |
Array |
GeneAnnot data |
GeneNote data |
GeneTide data |
| # genes |
Sensitivity |
Specificity |
Correlation |
Length |
Gb_Accession |
Consensus |
Uniqueness |
Score |
Rank |
| 38363_at2, 3
|
U95-A |
1 |
0.75 |
1.00 |
1.00 |
1.00 |
W60864 |
1.00 |
1.00 |
1.00 |
1 |
| 204122_at2, 3
|
U133-A |
1 |
0.82 |
1.00 |
-- |
-- |
NM_003332 |
0.60 |
1.00 |
0.82 |
1 |
| 204122_at2
|
U133Plus2 |
1 |
0.82 |
1.00 |
-- |
-- |
-- |
-- |
-- |
-- |
-- |
About this table
TYROBP for expression About GeneDecksing
Data from
Genenote
(Publications) and GNF BioGPS
About these images
About these images
CGAP SAGE TAG: AAGCACAAAA
SOURCE GeneReport for Unigene cluster: Hs.515369
Expression variation in blood from EXPOLDB for TYROBP UniProtKB/Swiss-Prot: TYOBP_HUMAN, O43914Tissue specificity: Expressed at low levels in the early development of the hematopoietic system and in thepromonocytic stage and at high levels in mature monocytes. Expressed in hematological cells and tissues such asperipheral blood leukocytes and spleen. Also found in bone marrow, lymph nodes, placenta, lung and liver. Expressed atlower levels in different parts of the brain especially in the basal ganglia and corpus callosum
SABiosciences Custom PCR Arrays for TYROBP
|
Orthologs
for TYROBP gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for TYROBP gene from 5 species
About this table Species with no ortholog for TYROBP
ENSEMBL Gene Tree for TYROBP (if available) |
Paralogs
for TYROBP gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| -- |
Genomic Variants
for TYROBP gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 19 pos | Sequence | Recs | AA
Chg | Type | More | Recs | Allele
freq | Pop | Total
sample | More |
|---|
About this tableHapMap Linkage Disequilibrium images for TYROBP (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for TYROBP
1 CNV: 5097 | | QIAGEN SeqTarget long-range PCR primers for resequencing TYROBP |
|
Disorders & Mutations
for TYROBP gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
Novoseek, PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TYROBP for disorders About GeneDecksing
OMIM: 604142 disorders: 221770 UniProtKB/Swiss-Prot: TYOBP_HUMAN, O43914
Defects in TYROBP are a cause of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy(PLOSL) [MIM:221770]; also called presenile dementia with bone cysts or Nasu-Hakola disease (NHD). PLOSL is arecessively inherited disease characterized by a combination of psychotic symptoms rapidly progressing to preseniledementia and bone cysts restricted to wrists and ankles. PLOSL has a global distribution, although most of thepatients have been diagnosed in Finland and Japan, with an estimated population prevalence of 2x10(-6) in the Finns
8 Novoseek disease relationships for TYROBP gene
| Disease |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| nasu-hakola disease |
97.9 |
35 |
9828133 (11), 17530208 (2), 10888890 (2), 16418779 (1) (see all 12) |
| lipomembranous polycystic osteodysplasia |
97.1 |
3 |
9828133 (1), 17530208 (1) |
| dementia presenile |
86.2 |
3 |
9828133 (1), 10888890 (1) |
| bone cysts |
78.2 |
4 |
15883308 (1), 20484116 (1), 10888890 (1) |
| dementia |
33.8 |
6 |
9828133 (1), 15883308 (1), 20484116 (1), 17530208 (1) (see all 5) |
| inflammation |
11.5 |
3 |
12651611 (2) |
| calcification |
3.59 |
1 |
15883308 (1) |
| tumors |
0 |
2 |
9828098 (1), 10404635 (1) |
About this table
1 PharmGKB disease relationship for TYROBP geneAbout this table
GeneTests: TYROBP
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy
Human Gene Mutation Database (HGMD): TYROBP
Human Genome Epidemiology (HuGE) Navigator: TYROBP (2 documents)
Export disorders and mutations for TYROBP gene to outside databases
|
Medical News
for TYROBP gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications
for TYROBP gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
10/95 PubMed articles for TYROBP gene, integrated from 7 sources (see all 95):
(articles sorted by number of sources associating them with TYROBP)- Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. (PubMed id 10888890)1, 2, 3, 7 Paloneva J....Peltonen L. (2000)
- Immunoreceptor DAP12 bearing a tyrosine-based activation motif is involved in activating NK cells. (PubMed id 9490415)1, 2, 3 Lanier L.L.... Phillips J.H. (1998)
- TREM-1, MDL-1, and DAP12 expression is associated with a mature stage of myeloid development. (PubMed id 11922939)1, 2, 7 Gingras M.-C.... Margolin J.F. (2002)
- Heterogeneity of presenile dementia with bone cysts (Nasu-Hakola disease): three genetic forms. (PubMed id 12370476)1, 2, 7 Kondo T....Yamamura T. (2002)
- Discovery of Siglec-14, a novel sialic acid receptor undergoing concerted evolution with Siglec-5 in primates. (PubMed id 17012248)1, 2 Angata T.... Nakamura M. (2006)
- Molecular characterization of a novel immune receptor restricted to the monocytic lineage. (PubMed id 15557162)1, 2 Aguilar H....Lopez-Botet M. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Inflammatory responses can be triggered by TREM-1, a novel receptor expressed on neutrophils and monocytes. (PubMed id 10799849)1, 2 Bouchon A.... Colonna M. (2000)
- Myeloid DAP12-associating lectin (MDL)-1 is a cell surface receptor involved in the activation of myeloid cells. (PubMed id 10449773)1, 2 Bakker A.B.H.... Lanier L.L. (1999)
- Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium. (PubMed id 9828133)1, 7 Pekkarinen P....Peltonen L. (1998)
|
External Searches for TYROBP gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TYROBP gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TYROBP gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TYROBP gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| GeneReviews | http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TYROBP |
|
| | |
About This Section
| Patent Information for TYROBP gene:
Search GeneIP for patents involving TYROBP
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TYROBP gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
|
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