TYROBP (transmembrane immune signaling adaptor TYROBP) - Rat Genome Database

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Gene: TYROBP (transmembrane immune signaling adaptor TYROBP) Homo sapiens
Analyze
Symbol: TYROBP
Name: transmembrane immune signaling adaptor TYROBP
RGD ID: 1351113
HGNC Page HGNC
Description: Enables protein homodimerization activity and signaling receptor binding activity. Involved in several processes, including innate immune response activating cell surface receptor signaling pathway; negative regulation of B cell proliferation; and positive regulation of macrophage fusion. Acts upstream of or within osteoclast differentiation. Located in cell surface and plasma membrane. Is integral component of plasma membrane. Implicated in Nasu-Hakola disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DAP12; DNAX adaptor protein 12; DNAX-activation protein 12; KAR-associated protein; KARAP; killer activating receptor associated protein; killer-activating receptor-associated protein; PLOSL; PLOSL1; polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; TYRO protein tyrosine kinase-binding protein
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1935,904,401 - 35,908,295 (-)EnsemblGRCh38hg38GRCh38
GRCh381935,904,403 - 35,908,295 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371936,395,305 - 36,399,197 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361941,087,143 - 41,091,026 (-)NCBINCBI36hg18NCBI36
Build 341941,087,143 - 41,091,026NCBI
Celera1933,109,494 - 33,113,402 (-)NCBI
Cytogenetic Map19q13.12NCBI
HuRef1932,900,548 - 32,904,456 (-)NCBIHuRef
CHM1_11936,396,596 - 36,400,504 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrobenzenesulfonic acid  (ISO)
2-butoxyethanol  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amphetamine  (ISO)
antirheumatic drug  (EXP)
bathocuproine disulfonic acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
cisplatin  (EXP)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
dexamethasone  (ISO)
dibenz[a,h]anthracene  (EXP)
dibenzo[a,l]pyrene  (EXP)
diclofenac  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
entinostat  (EXP)
fluoranthene  (EXP)
flutamide  (ISO)
folic acid  (ISO)
genistein  (ISO)
gentamycin  (ISO)
ionomycin  (EXP)
irinotecan  (ISO)
kainic acid  (ISO)
L-methionine  (ISO)
lipopolysaccharide  (ISO)
methotrexate  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
paracetamol  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
pirinixic acid  (ISO)
pyrrolidine dithiocarbamate  (EXP)
resveratrol  (ISO)
rotenone  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
tamibarotene  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trimellitic acid  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin cytoskeleton organization  (ISS)
apoptotic cell clearance  (ISS)
apoptotic signaling pathway  (ISS)
cellular defense response  (TAS)
forebrain development  (ISS)
integrin-mediated signaling pathway  (ISO)
intracellular signal transduction  (TAS)
macrophage activation involved in immune response  (ISO)
microglial cell activation involved in immune response  (IBA,ISS)
myeloid leukocyte activation  (IDA)
negative regulation of B cell proliferation  (IBA,IMP)
negative regulation of interleukin-10 production  (ISS)
negative regulation of long-term synaptic potentiation  (ISS)
negative regulation of transforming growth factor beta1 production  (IBA,ISS)
neutrophil activation involved in immune response  (IBA)
osteoclast differentiation  (IMP)
positive regulation of gene expression  (ISS)
positive regulation of hippocampal neuron apoptotic process  (ISS)
positive regulation of interleukin-1 beta production  (ISS)
positive regulation of interleukin-6 production  (ISS)
positive regulation of macrophage fusion  (IBA,IMP)
positive regulation of microglial cell mediated cytotoxicity  (IBA,ISS)
positive regulation of natural killer cell activation  (IBA)
positive regulation of neuron death  (ISS)
positive regulation of osteoclast development  (ISS)
positive regulation of protein localization to cell surface  (IMP)
positive regulation of receptor localization to synapse  (ISS)
positive regulation of superoxide anion generation  (ISS)
positive regulation of tumor necrosis factor production  (ISS)
protein stabilization  (IDA,IMP)
regulation of osteoclast development  (ISO)
response to axon injury  (ISS)
signal transduction  (TAS)
stimulatory C-type lectin receptor signaling pathway  (IDA)
stimulatory killer cell immunoglobulin-like receptor signaling pathway  (IDA)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:8889548   PMID:9463329   PMID:9490415   PMID:9655483   PMID:9828133   PMID:9830044   PMID:10049942   PMID:10201920   PMID:10449773   PMID:10604985   PMID:10799849   PMID:10888890  
PMID:10940905   PMID:11169398   PMID:11602640   PMID:11922939   PMID:12080485   PMID:12207350   PMID:12370476   PMID:12426564   PMID:12426565   PMID:12477932   PMID:12569153   PMID:12591902  
PMID:12925681   PMID:14707061   PMID:15294961   PMID:15342556   PMID:15356118   PMID:15489334   PMID:15557162   PMID:15601948   PMID:16206234   PMID:16339517   PMID:16505336   PMID:16715077  
PMID:17012248   PMID:17100880   PMID:17125796   PMID:17202323   PMID:17277102   PMID:17301953   PMID:17530208   PMID:18624290   PMID:18957693   PMID:19019460   PMID:19075187   PMID:19120482  
PMID:19606219   PMID:20212065   PMID:20301376   PMID:20421649   PMID:20628624   PMID:20890284   PMID:21263069   PMID:21421043   PMID:21727189   PMID:21841309   PMID:21873635   PMID:21967868  
PMID:22080356   PMID:23561520   PMID:23715743   PMID:23810293   PMID:24612676   PMID:24935923   PMID:25487697   PMID:25642940   PMID:25941351   PMID:25957402   PMID:26001891   PMID:26221034  
PMID:26337043   PMID:26642091   PMID:26676054   PMID:27556418   PMID:27658901   PMID:28100677   PMID:28490631   PMID:28716534   PMID:29272492   PMID:29336840   PMID:29518356   PMID:30283032  
PMID:32152949   PMID:32296183   PMID:33049336   PMID:33104706   PMID:33513928   PMID:33786672   PMID:33961781   PMID:34162355  


Genomics

Comparative Map Data
TYROBP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1935,904,401 - 35,908,295 (-)EnsemblGRCh38hg38GRCh38
GRCh381935,904,403 - 35,908,295 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371936,395,305 - 36,399,197 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361941,087,143 - 41,091,026 (-)NCBINCBI36hg18NCBI36
Build 341941,087,143 - 41,091,026NCBI
Celera1933,109,494 - 33,113,402 (-)NCBI
Cytogenetic Map19q13.12NCBI
HuRef1932,900,548 - 32,904,456 (-)NCBIHuRef
CHM1_11936,396,596 - 36,400,504 (-)NCBICHM1_1
Tyrobp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39730,113,207 - 30,117,007 (+)NCBIGRCm39mm39
GRCm39 Ensembl730,113,185 - 30,117,010 (+)Ensembl
GRCm38730,413,782 - 30,417,582 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl730,413,760 - 30,417,585 (+)EnsemblGRCm38mm10GRCm38
MGSCv37731,198,807 - 31,202,601 (+)NCBIGRCm37mm9NCBIm37
MGSCv36730,122,548 - 30,126,342 (+)NCBImm8
Celera725,005,487 - 25,009,294 (+)NCBICelera
Cytogenetic Map7B1NCBI
cM Map717.45NCBI
Tyrobp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2185,672,931 - 85,676,856 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl185,672,994 - 85,676,848 (+)Ensembl
Rnor_6.0188,875,370 - 88,879,305 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl188,875,375 - 88,879,303 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0190,031,123 - 90,034,976 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4185,365,371 - 85,369,224 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1185,443,481 - 85,447,330 (+)NCBI
Celera180,045,174 - 80,049,027 (+)NCBICelera
Cytogenetic Map1q21NCBI
Tyrobp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554682,673,980 - 2,677,321 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554682,673,657 - 2,677,633 (+)NCBIChiLan1.0ChiLan1.0
TYROBP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11941,570,674 - 41,575,226 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1941,570,683 - 41,575,226 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01932,821,279 - 32,825,488 (-)NCBIMhudiblu_PPA_v0panPan3
TYROBP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11116,757,271 - 116,760,453 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1116,757,289 - 116,772,325 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1116,162,854 - 116,166,018 (+)NCBI
ROS_Cfam_1.01117,360,454 - 117,363,633 (+)NCBI
UMICH_Zoey_3.11116,924,025 - 116,927,189 (+)NCBI
UNSW_CanFamBas_1.01116,547,561 - 116,550,722 (+)NCBI
UU_Cfam_GSD_1.01117,603,321 - 117,606,485 (+)NCBI
LOC101962495
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934911,185,145 - 11,187,925 (-)NCBI
SpeTri2.0NW_004936570457,993 - 460,735 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TYROBP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl645,309,197 - 45,312,537 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1645,309,199 - 45,312,562 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2640,711,873 - 40,716,395 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103234547
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1630,816,675 - 30,820,816 (-)NCBIChlSab1.1chlSab2
Vero_WHO_p1.0NW_0236660738,609,470 - 8,613,375 (-)NCBIVero_WHO_p1.0
Tyrobp
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462479410,183,934 - 10,187,180 (-)NCBIHetGla_female_1.0hetGla2

Position Markers
D19S844E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371936,395,329 - 36,395,421UniSTSGRCh37
Build 361941,087,169 - 41,087,261RGDNCBI36
Celera1933,109,520 - 33,109,612RGD
Cytogenetic Map19q13.1UniSTS
HuRef1932,900,574 - 32,900,666UniSTS
A006G29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371936,395,313 - 36,395,490UniSTSGRCh37
Build 361941,087,153 - 41,087,330RGDNCBI36
Celera1933,109,504 - 33,109,681RGD
Cytogenetic Map19q13.1UniSTS
HuRef1932,900,558 - 32,900,735UniSTS
GeneMap99-GB4 RH Map19214.34UniSTS
G32347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371936,395,313 - 36,395,490UniSTSGRCh37
Celera1933,109,504 - 33,109,681UniSTS
Cytogenetic Map19q13.1UniSTS
HuRef1932,900,558 - 32,900,735UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1928
Count of miRNA genes:532
Interacting mature miRNAs:612
Transcripts:ENST00000262629, ENST00000424586, ENST00000544690, ENST00000585626, ENST00000585901, ENST00000586946, ENST00000587837, ENST00000588439, ENST00000589517
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 576 584 4 1 1 13 6 4
Medium 2282 2151 1641 581 824 427 3341 1252 2727 331 1078 1363 157 1 1199 2072 4 2
Low 35 259 53 24 315 15 758 891 925 45 274 31 9 1 716
Below cutoff 7 2 9 5 105 5 96 9 12 5 11 34 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009304 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001173514 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001173515 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_198125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_033390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB280796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB361433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AD000833 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AD000864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF019562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF019563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ010098 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY074782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI908458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP295666 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP302545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP305672 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ576278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR450342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR542202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000262629   ⟹   ENSP00000262629
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,904,403 - 35,908,295 (-)Ensembl
RefSeq Acc Id: ENST00000424586   ⟹   ENSP00000402371
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,904,401 - 35,908,295 (-)Ensembl
RefSeq Acc Id: ENST00000544690   ⟹   ENSP00000445332
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,904,403 - 35,908,275 (-)Ensembl
RefSeq Acc Id: ENST00000585626
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,907,294 - 35,908,295 (-)Ensembl
RefSeq Acc Id: ENST00000585901   ⟹   ENSP00000468608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,904,403 - 35,908,247 (-)Ensembl
RefSeq Acc Id: ENST00000586946   ⟹   ENSP00000465656
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,904,446 - 35,908,295 (-)Ensembl
RefSeq Acc Id: ENST00000587837   ⟹   ENSP00000465081
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,904,401 - 35,908,295 (-)Ensembl
RefSeq Acc Id: ENST00000588439
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,904,461 - 35,908,223 (-)Ensembl
RefSeq Acc Id: ENST00000589517   ⟹   ENSP00000468447
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1935,904,560 - 35,908,295 (-)Ensembl
RefSeq Acc Id: NM_001173514   ⟹   NP_001166985
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,904,403 - 35,908,295 (-)NCBI
GRCh371936,395,303 - 36,399,211 (-)ENTREZGENE
HuRef1932,900,548 - 32,904,456 (-)ENTREZGENE
CHM1_11936,396,596 - 36,400,504 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001173515   ⟹   NP_001166986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,904,403 - 35,908,295 (-)NCBI
GRCh371936,395,303 - 36,399,211 (-)ENTREZGENE
HuRef1932,900,548 - 32,904,456 (-)ENTREZGENE
CHM1_11936,396,596 - 36,400,504 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003332   ⟹   NP_003323
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,904,403 - 35,908,295 (-)NCBI
GRCh371936,395,303 - 36,399,211 (-)ENTREZGENE
Build 361941,087,143 - 41,091,026 (-)NCBI Archive
HuRef1932,900,548 - 32,904,456 (-)ENTREZGENE
CHM1_11936,396,596 - 36,400,504 (-)NCBI
Sequence:
RefSeq Acc Id: NM_198125   ⟹   NP_937758
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,904,403 - 35,908,295 (-)NCBI
GRCh371936,395,303 - 36,399,211 (-)ENTREZGENE
Build 361941,087,143 - 41,091,026 (-)NCBI Archive
HuRef1932,900,548 - 32,904,456 (-)ENTREZGENE
CHM1_11936,396,596 - 36,400,504 (-)NCBI
Sequence:
RefSeq Acc Id: NR_033390
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,904,403 - 35,908,295 (-)NCBI
GRCh371936,395,303 - 36,399,211 (-)ENTREZGENE
HuRef1932,900,548 - 32,904,456 (-)ENTREZGENE
CHM1_11936,396,596 - 36,400,504 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001166986   ⟸   NM_001173515
- Peptide Label: isoform 4 precursor
- UniProtKB: X6RGC9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001166985   ⟸   NM_001173514
- Peptide Label: isoform 3 precursor
- UniProtKB: O43914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_937758   ⟸   NM_198125
- Peptide Label: isoform 2 precursor
- UniProtKB: O43914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003323   ⟸   NM_003332
- Peptide Label: isoform 1 precursor
- UniProtKB: O43914 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000402371   ⟸   ENST00000424586
RefSeq Acc Id: ENSP00000445332   ⟸   ENST00000544690
RefSeq Acc Id: ENSP00000468608   ⟸   ENST00000585901
RefSeq Acc Id: ENSP00000465656   ⟸   ENST00000586946
RefSeq Acc Id: ENSP00000465081   ⟸   ENST00000587837
RefSeq Acc Id: ENSP00000468447   ⟸   ENST00000589517
RefSeq Acc Id: ENSP00000262629   ⟸   ENST00000262629
Protein Domains
ITAM

Promoters
RGD ID:7239619
Promoter ID:EPDNEW_H25555
Type:initiation region
Name:TYROBP_1
Description:TYRO protein tyrosine kinase binding protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381935,908,295 - 35,908,355EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
TYROBP, EX1-4DEL deletion Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000006151] Chr19:19q13.1 pathogenic
TYROBP, 1-BP DEL, 141G deletion Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000006152] Chr19:19q13.1 pathogenic
NM_003332.4(TYROBP):c.2T>C (p.Met1Thr) single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000006153] Chr19:35908227 [GRCh38]
Chr19:36399129 [GRCh37]
Chr19:19q13.12
pathogenic
NM_003332.4(TYROBP):c.116G>A (p.Ser39Asn) single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000049807] Chr19:35907559 [GRCh38]
Chr19:36398461 [GRCh37]
Chr19:19q13.12
likely pathogenic
NM_003332.4(TYROBP):c.141del (p.Met48fs) deletion Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000049808] Chr19:35907534 [GRCh38]
Chr19:36398436 [GRCh37]
Chr19:19q13.12
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_003332.4(TYROBP):c.145G>C (p.Gly49Arg) single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000049809] Chr19:35907530 [GRCh38]
Chr19:36398432 [GRCh37]
Chr19:19q13.12
likely pathogenic
NM_003332.4(TYROBP):c.262G>T (p.Glu88Ter) single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000049810] Chr19:35907232 [GRCh38]
Chr19:36398134 [GRCh37]
Chr19:19q13.12
likely pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 copy number loss See cases [RCV000135879] Chr19:29661858..38114723 [GRCh38]
Chr19:30152765..38605363 [GRCh37]
Chr19:34844605..43297203 [NCBI36]
Chr19:19q12-13.13
pathogenic
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 copy number loss See cases [RCV000136794] Chr19:29671324..37902990 [GRCh38]
Chr19:30162231..38393630 [GRCh37]
Chr19:34854071..43085470 [NCBI36]
Chr19:19q12-13.13
pathogenic
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu) single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000347882]|not provided [RCV001573780]|not specified [RCV000177172] Chr19:35907512 [GRCh38]
Chr19:36398414 [GRCh37]
Chr19:19q13.12
benign|likely benign
NG_009304.1:g.2160_7401del deletion Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000192214] Chr19:35905883..35911124 [GRCh38]
Chr19:36396785..36402026 [GRCh37]
Chr19:19q13.12
pathogenic
NM_003332.4(TYROBP):c.*5G>A single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000283559] Chr19:35904564 [GRCh38]
Chr19:36395466 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_003332.4(TYROBP):c.94+10G>C single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000289216]|not provided [RCV000957742]|not specified [RCV001579313] Chr19:35907720 [GRCh38]
Chr19:36398622 [GRCh37]
Chr19:19q13.12
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003332.4(TYROBP):c.*85C>T single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000278373] Chr19:35904484 [GRCh38]
Chr19:36395386 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_000321.3(RB1):c.1961-12T>C single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000392000]|not provided [RCV001523355] Chr19:35907552 [GRCh38]
Chr19:36398454 [GRCh37]
Chr19:19q13.12
benign|likely benign
NM_003332.4(TYROBP):c.68G>A (p.Arg23His) single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000344270]|not provided [RCV000908009] Chr19:35907756 [GRCh38]
Chr19:36398658 [GRCh37]
Chr19:19q13.12
benign|uncertain significance
NM_003332.4(TYROBP):c.*83C>T single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000323398]|not provided [RCV001590967] Chr19:35904486 [GRCh38]
Chr19:36395388 [GRCh37]
Chr19:19q13.12
benign|likely benign
NM_003332.4(TYROBP):c.*140T>C single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000318307]|not provided [RCV001544824] Chr19:35904429 [GRCh38]
Chr19:36395331 [GRCh37]
Chr19:19q13.12
benign|likely benign|uncertain significance
NM_003332.4(TYROBP):c.*103T>A single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000372902] Chr19:35904466 [GRCh38]
Chr19:36395368 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_014363.6(SACS):c.2926C>A (p.Arg976Ser) single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000378071]|not provided [RCV001690089] Chr19:35904544 [GRCh38]
Chr19:36395446 [GRCh37]
Chr19:19q13.12
benign|likely benign
NM_003332.4(TYROBP):c.-34C>T single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000404107] Chr19:35908262 [GRCh38]
Chr19:36399164 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_003332.4(TYROBP):c.-50G>A single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV000314231] Chr19:35908278 [GRCh38]
Chr19:36399180 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_003332.4(TYROBP):c.119C>T (p.Pro40Leu) single nucleotide variant not provided [RCV000731110] Chr19:35907556 [GRCh38]
Chr19:36398458 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_003332.4(TYROBP):c.94G>A (p.Asp32Asn) single nucleotide variant Memory impairment [RCV000415434] Chr19:35907730 [GRCh38]
Chr19:36398632 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_003332.4(TYROBP):c.142A>G (p.Met48Val) single nucleotide variant not provided [RCV000434575] Chr19:35907533 [GRCh38]
Chr19:36398435 [GRCh37]
Chr19:19q13.12
uncertain significance
GRCh37/hg19 19q13.12(chr19:36147111-37249653)x1 copy number loss See cases [RCV000511504] Chr19:36147111..37249653 [GRCh37]
Chr19:19q13.12
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_003332.4(TYROBP):c.238C>T (p.Arg80Trp) single nucleotide variant not provided [RCV000900871]|not specified [RCV000594813] Chr19:35907256 [GRCh38]
Chr19:36398158 [GRCh37]
Chr19:19q13.12
likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
null single nucleotide variant not provided [RCV001708908] Chr19:35904825 [GRCh38]
Chr19:36395727 [GRCh37]
Chr19:19q13.12
benign
NM_020631.6(PLEKHG5):c.2145GGA[9] (p.Glu723dup) single nucleotide variant not provided [RCV001707041] Chr19:35907997 [GRCh38]
Chr19:36398899 [GRCh37]
Chr19:19q13.12
benign
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992) copy number loss Generalized epilepsy with febrile seizures plus, type 1 [RCV000767768] Chr19:35111811..37744992 [GRCh37]
Chr19:19q13.11-13.12
pathogenic
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
NM_004837.4(GGPS1):c.782G>A (p.Arg261His) AND MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, duplication not provided [RCV001638648] Chr19:35904357..35904358 [GRCh38]
Chr19:36395259..36395260 [GRCh37]
Chr19:19q13.12
benign
null single nucleotide variant not provided [RCV001582118] Chr19:35907659 [GRCh38]
Chr19:36398561 [GRCh37]
Chr19:19q13.12
likely benign
NM_003332.4(TYROBP):c.329C>T (p.Pro110Leu) single nucleotide variant not provided [RCV001572946] Chr19:35904582 [GRCh38]
Chr19:36395484 [GRCh37]
Chr19:19q13.12
likely benign
NM_003332.4(TYROBP):c.46C>T (p.Leu16=) single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV001122155]|not provided [RCV000907954] Chr19:35908183 [GRCh38]
Chr19:36399085 [GRCh37]
Chr19:19q13.12
benign|uncertain significance
NM_003332.4(TYROBP):c.230-3C>T single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV001127911] Chr19:35907267 [GRCh38]
Chr19:36398169 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_003332.4(TYROBP):c.140T>C (p.Val47Ala) single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV001127913] Chr19:35907535 [GRCh38]
Chr19:36398437 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_003332.4(TYROBP):c.111G>A (p.Thr37=) single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV001127915]|not provided [RCV000913097] Chr19:35907564 [GRCh38]
Chr19:36398466 [GRCh37]
Chr19:19q13.12
likely benign|uncertain significance
NM_003332.4(TYROBP):c.209G>A (p.Arg70Gln) single nucleotide variant not provided [RCV000934157] Chr19:35907466 [GRCh38]
Chr19:36398368 [GRCh37]
Chr19:19q13.12
likely benign
NM_002055.5(GFAP):c.469G>A (p.Asp157Asn) single nucleotide variant not provided [RCV001657380] Chr19:35907691 [GRCh38]
Chr19:36398593 [GRCh37]
Chr19:19q13.12
benign
null single nucleotide variant not provided [RCV001590857] Chr19:35904661 [GRCh38]
Chr19:36395563 [GRCh37]
Chr19:19q13.12
likely benign
NM_003332.4(TYROBP):c.*154T>C single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV001125802] Chr19:35904415 [GRCh38]
Chr19:36395317 [GRCh37]
Chr19:19q13.12
uncertain significance
NM_003332.4(TYROBP):c.180C>G (p.Ala60=) single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV001127912] Chr19:35907495 [GRCh38]
Chr19:36398397 [GRCh37]
Chr19:19q13.12
uncertain significance
null single nucleotide variant not provided [RCV001694251] Chr19:35908444 [GRCh38]
Chr19:36399346 [GRCh37]
Chr19:19q13.12
benign
NM_001943.5(DSG2):c.1299T>C (p.Asp433=) single nucleotide variant not provided [RCV001708020] Chr19:35908331 [GRCh38]
Chr19:36399233 [GRCh37]
Chr19:19q13.12
benign
NM_003332.4(TYROBP):c.112G>A (p.Val38Met) single nucleotide variant Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 [RCV001127914] Chr19:35907563 [GRCh38]
Chr19:36398465 [GRCh37]
Chr19:19q13.12
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12449 AgrOrtholog
COSMIC TYROBP COSMIC
Ensembl Genes ENSG00000011600 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000262629 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000402371 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000445332 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000465081 UniProtKB/TrEMBL
  ENSP00000465656 UniProtKB/TrEMBL
  ENSP00000468447 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000468608 UniProtKB/TrEMBL
Ensembl Transcript ENST00000262629 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000424586 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000544690 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000585901 UniProtKB/TrEMBL
  ENST00000586946 UniProtKB/TrEMBL
  ENST00000587837 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000589517 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000011600 GTEx
HGNC ID HGNC:12449 ENTREZGENE
Human Proteome Map TYROBP Human Proteome Map
InterPro Tyrobp UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7305 UniProtKB/Swiss-Prot
NCBI Gene 7305 ENTREZGENE
OMIM 221770 OMIM
  604142 OMIM
PANTHER PTHR17554 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37100 PharmGKB, RGD
UniProt K7EKK0_HUMAN UniProtKB/TrEMBL
  K7ES93_HUMAN UniProtKB/TrEMBL
  O43914 ENTREZGENE, UniProtKB/Swiss-Prot
  X6RGC9 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary A8K2X0 UniProtKB/Swiss-Prot
  F5H389 UniProtKB/Swiss-Prot
  Q6FGA5 UniProtKB/Swiss-Prot
  Q9UMT3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-10-08 TYROBP  transmembrane immune signaling adaptor TYROBP  TYROBP  TYRO protein tyrosine kinase binding protein  Symbol and/or name change 5135510 APPROVED