Human Gene TYROBP (uc021uta.1)
  Description: Homo sapiens TYRO protein tyrosine kinase binding protein (TYROBP), transcript variant 3, mRNA.
RefSeq Summary (NM_001173514): 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].
Transcript (Including UTRs)
   Position: hg19 chr19:36,395,303-36,399,211 Size: 3,909 Total Exon Count: 4 Strand: -
Coding Region
   Position: hg19 chr19:36,395,471-36,399,130 Size: 3,660 Coding Exon Count: 4 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:36,395,303-36,399,211)mRNA (may differ from genome)Protein (102 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
H-INVHGNCLynxMalacardsMGIOMIM
PubMedUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: F5H389_HUMAN
DESCRIPTION: SubName: Full=TYRO protein tyrosine kinase-binding protein;
CAUTION: The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TYROBP
CDC HuGE Published Literature: TYROBP

-  MalaCards Disease Associations
  MalaCards Gene Search: TYROBP
Diseases sorted by gene-association score: nasu-hakola disease* (984), tyrobp-related polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy* (100), basal ganglia calcification (11), adenoiditis (7), dementia (6)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 869.19 RPKM in Whole Blood
Total median expression: 2244.20 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -24.7081-0.305 Picture PostScript Text
3' UTR -19.65168-0.117 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR026200 - Tyrobp

ModBase Predicted Comparative 3D Structure on F5H389
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Descriptions from all associated GenBank mRNAs
  LF207600 - JP 2014500723-A/15103: Polycomb-Associated Non-Coding RNAs.
HH837109 - Sequence 36 from Patent EP2231168.
HH837110 - Sequence 37 from Patent EP2231168.
HI214750 - Sequence 36 from Patent EP2076526.
HI214751 - Sequence 37 from Patent EP2076526.
HV601552 - JP 2011500003-A/36: Novel siRNA Structures.
HV601553 - JP 2011500003-A/37: Novel siRNA Structures.
HV856625 - JP 2010507387-A/36: Novel siRNAs and Methods of Use Thereof.
HV856626 - JP 2010507387-A/37: Novel siRNAs and Methods of Use Thereof.
HW165112 - JP 2013102767-A/36: Novel siRNA's and Use Thereof.
HW165113 - JP 2013102767-A/37: Novel siRNA's and Use Thereof.
HW675620 - JP 2014210789-A/36: Novel siRNA Structures.
HW675621 - JP 2014210789-A/37: Novel siRNA Structures.
HW835308 - JP 2015051004-A/36: Novel siRNA's and Use Thereof.
HW835309 - JP 2015051004-A/37: Novel siRNA's and Use Thereof.
JA538151 - Sequence 36 from Patent EP2371958.
JA538152 - Sequence 37 from Patent EP2371958.
HW061162 - JP 2012529430-A/37: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW061163 - JP 2012529430-A/38: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW061164 - JP 2012529430-A/39: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
HW061165 - JP 2012529430-A/40: METHODS FOR TREATING CHRONIC KIDNEY DISEASE.
JA482117 - Sequence 100 from Patent WO2011072091.
JA482118 - Sequence 101 from Patent WO2011072091.
JA482119 - Sequence 102 from Patent WO2011072091.
JA482120 - Sequence 103 from Patent WO2011072091.
JA482121 - Sequence 104 from Patent WO2011072091.
JB251970 - Sequence 37 from Patent EP2440214.
JB251971 - Sequence 38 from Patent EP2440214.
JB251972 - Sequence 39 from Patent EP2440214.
JB251973 - Sequence 40 from Patent EP2440214.
JE980409 - Sequence 100 from Patent EP2862929.
JE980410 - Sequence 101 from Patent EP2862929.
JE980411 - Sequence 102 from Patent EP2862929.
JE980412 - Sequence 103 from Patent EP2862929.
JE980413 - Sequence 104 from Patent EP2862929.
LP764869 - Sequence 37 from Patent EP3276004.
LP764870 - Sequence 38 from Patent EP3276004.
LP764871 - Sequence 39 from Patent EP3276004.
LP764872 - Sequence 40 from Patent EP3276004.
AF019562 - Homo sapiens DAP12 mRNA, complete cds.
BC011175 - Homo sapiens TYRO protein tyrosine kinase binding protein, mRNA (cDNA clone MGC:17097 IMAGE:4150408), complete cds.
AK290385 - Homo sapiens cDNA FLJ76536 complete cds, highly similar to Homo sapiens TYRO protein tyrosine kinase binding protein (TYROBP), transcript variant 2, mRNA.
JD114952 - Sequence 95976 from Patent EP1572962.
JD121364 - Sequence 102388 from Patent EP1572962.
AY074782 - Homo sapiens DAP12 variant 112DAP12 mRNA, complete cds.
AJ010098 - Homo sapiens mRNA for killer activating receptor associated protein, isoform b.
CR542202 - Homo sapiens full open reading frame cDNA clone RZPDo834G1124D for gene TYROBP, TYRO protein tyrosine kinase binding protein; complete cds, incl. stopcodon.
KJ892335 - Synthetic construct Homo sapiens clone ccsbBroadEn_01729 TYROBP gene, encodes complete protein.
KR709357 - Synthetic construct Homo sapiens clone CCSBHm_00000979 TYROBP (TYROBP) mRNA, encodes complete protein.
BT009851 - Homo sapiens TYRO protein tyrosine kinase binding protein mRNA, complete cds.
DQ891092 - Synthetic construct clone IMAGE:100003722; FLH169274.01X; RZPDo839A0696D TYRO protein tyrosine kinase binding protein (TYROBP) gene, encodes complete protein.
DQ894274 - Synthetic construct Homo sapiens clone IMAGE:100008734; FLH169270.01L; RZPDo839A0695D TYRO protein tyrosine kinase binding protein (TYROBP) gene, encodes complete protein.
AB590208 - Synthetic construct DNA, clone: pFN21AE1382, Homo sapiens TYROBP gene for TYRO protein tyrosine kinase binding protein, without stop codon, in Flexi system.
CR450342 - Homo sapiens full open reading frame cDNA clone RZPDo834H0216D for gene TYROBP, TYRO protein tyrosine kinase binding protein; complete cds; without stopcodon.
CU679890 - Synthetic construct Homo sapiens gateway clone IMAGE:100016676 5' read TYROBP mRNA.
LF367359 - JP 2014500723-A/174862: Polycomb-Associated Non-Coding RNAs.
JD427611 - Sequence 408635 from Patent EP1572962.
JD429130 - Sequence 410154 from Patent EP1572962.
MA602936 - JP 2018138019-A/174862: Polycomb-Associated Non-Coding RNAs.
MA443177 - JP 2018138019-A/15103: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04650 - Natural killer cell mediated cytotoxicity

-  Other Names for This Gene
  Alternate Gene Symbols: F5H389, F5H389_HUMAN, NM_001173514, NP_001166985
UCSC ID: uc021uta.1
RefSeq Accession: NM_001173514
Protein: F5H389 CCDS: CCDS54255.1, CCDS59378.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TYROBP:
plosl (Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_001173514.1
exon count: 4CDS single in 3' UTR: no RNA size: 575
ORF size: 309CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 818.00frame shift in genome: no % Coverage: 97.04
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.