PTK2B (protein tyrosine kinase 2 beta) - Rat Genome Database

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Gene: PTK2B (protein tyrosine kinase 2 beta) Homo sapiens
Analyze
Symbol: PTK2B
Name: protein tyrosine kinase 2 beta
RGD ID: 1346204
HGNC Page HGNC:9612
Description: Enables non-membrane spanning protein tyrosine kinase activity and protein self-association. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of MAPK cascade; and positive regulation of cellular component organization. Located in several cellular components, including focal adhesion; lamellipodium; and perinuclear region of cytoplasm. Implicated in breast cancer and hypertension. Biomarker of glomerulonephritis and prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CADTK; CAK beta; CAK-beta; CAKB; calcium-dependent tyrosine kinase; calcium-regulated non-receptor proline-rich tyrosine kinase; cell adhesion kinase beta; FADK 2; FADK2; FAK2; focal adhesion kinase 2; FRNK; PKB; proline-rich tyrosine kinase 2; protein kinase B; protein-tyrosine kinase 2-beta; PTK; PTK2B protein tyrosine kinase 2 beta; PYK2; RAFTK; related adhesion focal tyrosine kinase
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
GRCh38827,310,506 - 27,459,391 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl827,311,482 - 27,459,391 (+)EnsemblGRCh38hg38GRCh38
GRCh37827,168,995 - 27,316,908 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36827,224,916 - 27,372,820 (+)NCBINCBI36Build 36hg18NCBI36
Build 34827,238,970 - 27,372,820NCBI
Celera826,131,907 - 26,277,021 (+)NCBICelera
Cytogenetic Map8p21.2NCBI
HuRef825,714,123 - 25,861,970 (+)NCBIHuRef
CHM1_1827,370,923 - 27,518,777 (+)NCBICHM1_1
T2T-CHM13v2.0827,583,138 - 27,736,745 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(1->4)-beta-D-glucan  (ISO)
(S)-colchicine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
1-octadec-9-enoylglycero-3-phosphate  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (EXP)
7-ketocholesterol  (EXP)
[2,8-bis(trifluoromethyl)quinolin-4-yl]-(2-piperidyl)methanol  (ISO)
acetamide  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
AICA ribonucleotide  (ISO)
alachlor  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
apigenin  (EXP)
apocynin  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
asbestos  (EXP)
azoxystrobin  (EXP)
Benoxacor  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (EXP,ISO)
buta-1,3-diene  (ISO)
butan-1-ol  (ISO)
butanal  (EXP)
calcium atom  (EXP,ISO)
calcium(0)  (EXP,ISO)
captan  (ISO)
carbachol  (ISO)
carbon nanotube  (EXP,ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cocaine  (ISO)
Cuprizon  (ISO)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibenziodolium  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dimethylarsinic acid  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (ISO)
fenpyroximate  (EXP)
fenvalerate  (ISO)
flavonoids  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
folpet  (ISO)
furan  (ISO)
glyphosate  (ISO)
hydralazine  (EXP)
hydrogen peroxide  (ISO)
ionomycin  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
lithium atom  (ISO)
lithium hydride  (ISO)
Malonoben  (EXP)
mancozeb  (ISO)
maneb  (ISO)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
mefloquine  (ISO)
methapyrilene  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-acetyl-L-cysteine  (ISO)
N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal  (ISO)
N-Nitrosopyrrolidine  (EXP)
naphthalene  (ISO)
niclosamide  (EXP)
ozone  (EXP)
paracetamol  (EXP,ISO)
paraoxon  (EXP)
paraquat  (ISO)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP)
phorbol 13-acetate 12-myristate  (ISO)
picoxystrobin  (EXP)
pinostrobin  (EXP)
pirinixic acid  (ISO)
ponatinib  (EXP)
potassium chloride  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
propiconazole  (ISO)
prostaglandin F2alpha  (ISO)
quercitrin  (EXP)
rotenone  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tamibarotene  (EXP)
tamoxifen  (EXP)
thapsigargin  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
tungsten  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vanadium atom  (EXP)
vanadium(0)  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin filament organization  (IEA,ISO)
activation of GTPase activity  (ISO)
activation of Janus kinase activity  (ISO)
adaptive immune response  (IEA)
angiogenesis  (IEA,ISO)
apoptotic process  (TAS)
blood vessel endothelial cell migration  (IEA,ISO)
bone resorption  (IEA,ISS)
cell adhesion  (IEA,ISO)
cell differentiation  (IEA,ISO)
cell surface receptor signaling pathway  (IEA,IMP)
cellular defense response  (IEA,ISS)
cellular response to fluid shear stress  (IEA,ISO)
cellular response to retinoic acid  (IMP)
chemokine-mediated signaling pathway  (IEA,ISS)
cortical cytoskeleton organization  (IEA,ISS)
endothelin receptor signaling pathway  (IMP)
epidermal growth factor receptor signaling pathway  (IBA,IEA,ISO)
focal adhesion assembly  (IEA,ISO)
glial cell proliferation  (IEA,ISO)
integrin-mediated signaling pathway  (IMP)
ionotropic glutamate receptor signaling pathway  (IEA,ISS)
long-term synaptic depression  (IEA,ISO)
long-term synaptic potentiation  (IEA,ISS)
MAPK cascade  (IEA,ISO)
marginal zone B cell differentiation  (IEA,ISS)
negative regulation of apoptotic process  (IEA,IMP)
negative regulation of bone mineralization  (IEA,ISS)
negative regulation of cell population proliferation  (IMP)
negative regulation of muscle cell apoptotic process  (IEA,ISO)
negative regulation of myeloid cell differentiation  (IMP)
negative regulation of neuron apoptotic process  (IEA,ISS)
negative regulation of ossification  (IEA,ISO)
negative regulation of potassium ion transport  (IDA)
neuron projection development  (IEA,ISO)
oocyte maturation  (IEA,ISO)
peptidyl-tyrosine phosphorylation  (ISO)
positive regulation of actin filament polymerization  (IMP)
positive regulation of angiogenesis  (IEA)
positive regulation of B cell chemotaxis  (IEA,ISS)
positive regulation of cell growth  (IEA,ISO)
positive regulation of cell migration  (IBA,IEA,IMP,ISO)
positive regulation of cell population proliferation  (IEA,IMP,ISO,TAS)
positive regulation of cell-matrix adhesion  (IMP)
positive regulation of cytosolic calcium ion concentration  (IEA,ISO)
positive regulation of DNA biosynthetic process  (IEA,ISO)
positive regulation of endothelial cell migration  (IDA,IEA)
positive regulation of ERK1 and ERK2 cascade  (IMP)
positive regulation of excitatory postsynaptic potential  (IEA,ISS)
positive regulation of JNK cascade  (IMP)
positive regulation of JUN kinase activity  (ISO)
positive regulation of neuron projection development  (IMP)
positive regulation of nitric oxide biosynthetic process  (IEA,ISO)
positive regulation of nitric-oxide synthase activity  (ISO)
positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction  (IEA,ISS)
positive regulation of protein metabolic process  (IEA,ISO)
positive regulation of protein phosphorylation  (IEA)
positive regulation of reactive oxygen species metabolic process  (IEA,ISO)
positive regulation of synaptic transmission, glutamatergic  (IEA,ISS)
positive regulation of translation  (IEA,ISO)
positive regulation of ubiquitin-dependent protein catabolic process  (IEA)
postsynaptic modulation of chemical synaptic transmission  (IEA)
protein-containing complex assembly  (TAS)
regulation of actin cytoskeleton organization  (IEA,ISS)
regulation of biological quality  (IEA)
regulation of cell adhesion  (IBA,IEA,IMP)
regulation of cell shape  (IMP)
regulation of cellular component organization  (IEA)
regulation of intracellular signal transduction  (IEA)
regulation of macrophage chemotaxis  (IEA,ISS)
regulation of multicellular organismal process  (IEA)
regulation of postsynaptic density assembly  (IEA)
regulation of release of sequestered calcium ion into cytosol  (IEA,ISS)
regulation of synaptic plasticity  (TAS)
regulation of ubiquitin-dependent protein catabolic process  (IDA)
response to calcium ion  (IEA,ISO)
response to cAMP  (IEA,ISO)
response to cation stress  (IEA)
response to cocaine  (IEA,ISO)
response to ethanol  (IEA,ISO)
response to glucose  (IEA,ISO)
response to hormone  (IEA,ISO)
response to hydrogen peroxide  (IEA,ISO)
response to hypoxia  (IEA,ISO)
response to immobilization stress  (IEA,ISO)
response to ischemia  (IEA)
response to mechanical stimulus  (IEA,ISO)
response to organonitrogen compound  (ISO)
response to reactive oxygen species  (IEA,ISO)
response to xenobiotic stimulus  (IEA,ISO)
signal complex assembly  (IEA,TAS)
signal transduction  (TAS)
sprouting angiogenesis  (IEA,ISS)
stress fiber assembly  (IEA,ISO)
tumor necrosis factor-mediated signaling pathway  (IMP)
vascular endothelial growth factor receptor signaling pathway  (IEA,IMP)

Cellular Component

References

References - curated
# Reference Title Reference Citation
1. PYK2 expression and phosphorylation increases in pressure overload-induced left ventricular hypertrophy. Bayer AL, etal., Am J Physiol Heart Circ Physiol. 2002 Aug;283(2):H695-706.
2. Proline-rich tyrosine kinase 2 regulates osteoprogenitor cells and bone formation, and offers an anabolic treatment approach for osteoporosis. Buckbinder L, etal., Proc Natl Acad Sci U S A. 2007 Jun 19;104(25):10619-24. Epub 2007 May 30.
3. [Effects of prednisone on renal FAK and Pyk2 expressions in rats with adriamycin- induced nephritis]. Chen X, etal., Nan Fang Yi Ke Da Xue Xue Bao. 2014 Jul;34(8):1149-53.
4. Novel role of proline-rich nonreceptor tyrosine kinase 2 in vascular wall remodeling after balloon injury. Gadepalli R, etal., Arterioscler Thromb Vasc Biol. 2012 Nov;32(11):2652-61. doi: 10.1161/ATVBAHA.112.253112. Epub 2012 Aug 23.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Suppression of postsynaptic density protein 95 by antisense oligonucleotides diminishes postischemic pyramidal cell death in rat hippocampal CA1 subfield. Hou XY, etal., Neurosci Lett. 2005 Sep 16;385(3):230-3.
7. Increase in tyrosine phosphorylation of the NMDA receptor following the induction of status epilepticus. Huo JZ, etal., Neurosci Lett. 2006 Jul 3;401(3):266-70. Epub 2006 Apr 4.
8. Protein tyrosine kinase 2beta as a candidate gene for hypertension. Kamide K, etal., Pharmacogenet Genomics. 2007 Nov;17(11):931-9.
9. High resolution genomic analysis of sporadic breast cancer using array-based comparative genomic hybridization. Naylor TL, etal., Breast Cancer Res. 2005;7(6):R1186-98. Epub 2005 Nov 24.
10. Losartan improves aortic endothelium-dependent relaxation via proline-rich tyrosine kinase 2/Src/Akt pathway in type 2 diabetic Goto-Kakizaki rats. Nemoto S, etal., Am J Physiol Heart Circ Physiol. 2011 Dec;301(6):H2383-94. doi: 10.1152/ajpheart.00178.2011. Epub 2011 Sep 16.
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
13. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. Variations of proline-rich kinase Pyk2 expression correlate with prostate cancer progression. Stanzione R, etal., Lab Invest. 2001 Jan;81(1):51-9.
16. Hypertension promotes phosphorylation of focal adhesion kinase and proline-rich tyrosine kinase 2 in rats: implication for the pathogenesis of hypertensive vascular disease. Sugimura K, etal., Tohoku J Exp Med. 2010 Nov;222(3):201-10.
17. Increased expression of cell adhesion kinase beta in human and rat crescentic glomerulonephritis. Takagi C, etal., Am J Kidney Dis 2002 Jan;39(1):174-82.
18. Cerebral ischemia and seizures induce tyrosine phosphorylation of PYK2 in neurons and microglial cells. Tian D, etal., J Neurosci. 2000 Sep 1;20(17):6478-87.
19. Role of PYK2 in the development of obesity and insulin resistance. Yu Y, etal., Biochem Biophys Res Commun. 2005 Sep 9;334(4):1085-91.
Additional References at PubMed
PMID:1718748   PMID:7499242   PMID:7529876   PMID:7544443   PMID:7673154   PMID:8497321   PMID:8670418   PMID:8792832   PMID:8798684   PMID:8838818   PMID:8849729   PMID:8889548  
PMID:8939945   PMID:8995252   PMID:9020138   PMID:9091579   PMID:9099734   PMID:9104812   PMID:9242628   PMID:9344848   PMID:9362541   PMID:9402324   PMID:9422762   PMID:9442086  
PMID:9446638   PMID:9512511   PMID:9545257   PMID:9560226   PMID:9565592   PMID:9621077   PMID:9750131   PMID:9858471   PMID:10022914   PMID:10022920   PMID:10082674   PMID:10194422  
PMID:10229084   PMID:10322114   PMID:10329689   PMID:10354709   PMID:10356363   PMID:10518561   PMID:10521452   PMID:10702271   PMID:10708762   PMID:10713673   PMID:10747947   PMID:10769033  
PMID:10777553   PMID:10797305   PMID:10821841   PMID:10867021   PMID:10880513   PMID:10961871   PMID:10980697   PMID:11007796   PMID:11036077   PMID:11149930   PMID:11162638   PMID:11238453  
PMID:11278472   PMID:11311138   PMID:11337490   PMID:11352632   PMID:11461120   PMID:11478920   PMID:11493697   PMID:11668182   PMID:11683411   PMID:11739373   PMID:11744621   PMID:11751905  
PMID:11818507   PMID:11820787   PMID:11850124   PMID:11856738   PMID:11916084   PMID:11937718   PMID:12011061   PMID:12063569   PMID:12077257   PMID:12082274   PMID:12096713   PMID:12231407  
PMID:12244133   PMID:12354773   PMID:12458207   PMID:12477932   PMID:12486027   PMID:12515814   PMID:12522270   PMID:12576483   PMID:12578912   PMID:12606503   PMID:12626562   PMID:12628756  
PMID:12629171   PMID:12771146   PMID:12771190   PMID:12794117   PMID:12844492   PMID:12857973   PMID:12893833   PMID:12933673   PMID:12943720   PMID:12960231   PMID:14585963   PMID:14676843  
PMID:14684825   PMID:14729602   PMID:14961028   PMID:14963038   PMID:14969582   PMID:15050747   PMID:15070849   PMID:15105428   PMID:15128501   PMID:15128873   PMID:15213840   PMID:15489334  
PMID:15499613   PMID:15539082   PMID:15557335   PMID:15585656   PMID:15588985   PMID:15661758   PMID:15695828   PMID:15717329   PMID:15778498   PMID:15835820   PMID:15881658   PMID:15944312  
PMID:15967096   PMID:16055703   PMID:16202977   PMID:16330715   PMID:16344560   PMID:16421571   PMID:16433632   PMID:16514607   PMID:16751776   PMID:16760434   PMID:16774943   PMID:16783820  
PMID:16840719   PMID:16945503   PMID:16949788   PMID:16998626   PMID:17192257   PMID:17205062   PMID:17329398   PMID:17512525   PMID:17551499   PMID:17563746   PMID:17581868   PMID:17716864  
PMID:17785844   PMID:17906699   PMID:17910947   PMID:17950644   PMID:18029348   PMID:18086875   PMID:18198130   PMID:18365874   PMID:18367725   PMID:18390748   PMID:18437915   PMID:18453587  
PMID:18507841   PMID:18571765   PMID:18632858   PMID:18667434   PMID:18765415   PMID:18794150   PMID:18832579   PMID:18954908   PMID:19047047   PMID:19086031   PMID:19106639   PMID:19207108  
PMID:19358827   PMID:19380485   PMID:19415692   PMID:19458494   PMID:19509258   PMID:19561089   PMID:19661918   PMID:19700666   PMID:19706888   PMID:19718025   PMID:19880522   PMID:19913121  
PMID:19930834   PMID:20028775   PMID:20056178   PMID:20074345   PMID:20180987   PMID:20215112   PMID:20308428   PMID:20379614   PMID:20381867   PMID:20543098   PMID:20628086   PMID:20688918  
PMID:20724588   PMID:20800603   PMID:20842205   PMID:20849950   PMID:20881009   PMID:20946164   PMID:20966971   PMID:21114537   PMID:21245381   PMID:21357692   PMID:21424732   PMID:21426305  
PMID:21533080   PMID:21602932   PMID:21640103   PMID:21666110   PMID:21840393   PMID:21873635   PMID:22023045   PMID:22096562   PMID:22188814   PMID:22190034   PMID:22454420   PMID:22581436  
PMID:22618716   PMID:22745829   PMID:22842493   PMID:22923218   PMID:22939624   PMID:23119100   PMID:23142219   PMID:23216754   PMID:23220172   PMID:23259602   PMID:23292187   PMID:23300847  
PMID:23302305   PMID:23587524   PMID:23618355   PMID:23922106   PMID:23986795   PMID:24072693   PMID:24097630   PMID:24108181   PMID:24142406   PMID:24162737   PMID:24163766   PMID:24176282  
PMID:24413044   PMID:24523919   PMID:24598361   PMID:24965120   PMID:25099615   PMID:25174335   PMID:25180269   PMID:25217697   PMID:25219547   PMID:25231990   PMID:25241761   PMID:25387834  
PMID:25415317   PMID:25433371   PMID:25707991   PMID:25778396   PMID:25889845   PMID:25924204   PMID:25967238   PMID:26084289   PMID:26109718   PMID:26202465   PMID:26274564   PMID:26330541  
PMID:26352169   PMID:26866573   PMID:26866924   PMID:27080426   PMID:27181591   PMID:27210483   PMID:27492635   PMID:27602957   PMID:27613122   PMID:27793840   PMID:28122716   PMID:28218251  
PMID:28385807   PMID:28555636   PMID:28694190   PMID:28699640   PMID:28973302   PMID:29133485   PMID:29507755   PMID:30020827   PMID:30250159   PMID:30952431   PMID:31110200   PMID:31118051  
PMID:31413325   PMID:31980649   PMID:32510326   PMID:32693110   PMID:32707033   PMID:32727877   PMID:32814053   PMID:32956670   PMID:33082554   PMID:33568623   PMID:33785524   PMID:34313839  
PMID:34857952   PMID:34905657   PMID:34943950   PMID:35142150   PMID:35192416   PMID:36215168   PMID:36253980   PMID:36470481   PMID:36736316   PMID:36931259   PMID:37098808   PMID:37269155  
PMID:37487877   PMID:37894811   PMID:38321895  


Genomics

Comparative Map Data
PTK2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38827,310,506 - 27,459,391 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl827,311,482 - 27,459,391 (+)EnsemblGRCh38hg38GRCh38
GRCh37827,168,995 - 27,316,908 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36827,224,916 - 27,372,820 (+)NCBINCBI36Build 36hg18NCBI36
Build 34827,238,970 - 27,372,820NCBI
Celera826,131,907 - 26,277,021 (+)NCBICelera
Cytogenetic Map8p21.2NCBI
HuRef825,714,123 - 25,861,970 (+)NCBIHuRef
CHM1_1827,370,923 - 27,518,777 (+)NCBICHM1_1
T2T-CHM13v2.0827,583,138 - 27,736,745 (+)NCBIT2T-CHM13v2.0
Ptk2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391466,390,706 - 66,518,549 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1466,390,706 - 66,518,501 (-)EnsemblGRCm39 Ensembl
GRCm381466,153,257 - 66,281,100 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1466,153,257 - 66,281,052 (-)EnsemblGRCm38mm10GRCm38
MGSCv371466,772,094 - 66,899,889 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361465,107,372 - 65,235,162 (-)NCBIMGSCv36mm8
Celera1463,901,704 - 64,032,818 (-)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1434.36NCBI
Ptk2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81544,536,275 - 44,656,754 (-)NCBIGRCr8
mRatBN7.21540,360,722 - 40,481,235 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1540,360,723 - 40,481,282 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1542,228,028 - 42,348,822 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01543,378,225 - 43,499,021 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01541,821,037 - 41,941,390 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01542,827,306 - 42,947,796 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1542,827,310 - 42,947,656 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01548,646,476 - 48,766,708 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41545,589,222 - 45,717,866 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11545,604,992 - 45,733,824 (-)NCBI
Celera1540,034,001 - 40,153,993 (-)NCBICelera
Cytogenetic Map15p12NCBI
Ptk2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540349,855,541 - 49,973,225 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540349,856,056 - 49,970,800 (+)NCBIChiLan1.0ChiLan1.0
PTK2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2745,841,364 - 45,989,859 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1821,555,525 - 21,704,087 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0826,580,855 - 26,729,378 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1823,783,624 - 23,932,472 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl823,869,825 - 23,932,474 (+)Ensemblpanpan1.1panPan2
PTK2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12530,137,546 - 30,264,221 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2530,138,209 - 30,264,133 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2530,723,893 - 30,850,311 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02530,327,673 - 30,454,390 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2530,327,667 - 30,454,389 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12530,257,967 - 30,384,306 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02530,138,848 - 30,265,191 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02530,305,247 - 30,431,983 (-)NCBIUU_Cfam_GSD_1.0
Ptk2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049438,260,472 - 8,369,219 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936675275,288 - 324,810 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936675216,970 - 325,670 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PTK2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1411,064,492 - 11,194,192 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11411,063,662 - 11,194,196 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21412,244,257 - 12,375,188 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PTK2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1825,437,680 - 25,571,594 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl825,437,564 - 25,571,782 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605216,572,610 - 16,706,737 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ptk2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475822,124,836 - 22,182,605 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475822,065,448 - 22,182,604 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PTK2B
68 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p21.2-q11.21(chr8:25832130-48521849)x3 copy number gain See cases [RCV000050904] Chr8:25832130..48521849 [GRCh38]
Chr8:25689646..49434409 [GRCh37]
Chr8:25745563..49596962 [NCBI36]
Chr8:8p21.2-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 copy number loss See cases [RCV000054237] Chr8:24910364..31210737 [GRCh38]
Chr8:24767877..31068253 [GRCh37]
Chr8:24823781..31187795 [NCBI36]
Chr8:8p21.2-12
pathogenic
NM_173174.2(PTK2B):c.1285C>T (p.Arg429Cys) single nucleotide variant Malignant melanoma [RCV000068268] Chr8:27436292 [GRCh38]
Chr8:27293809 [GRCh37]
Chr8:27349726 [NCBI36]
Chr8:8p21.2
not provided
NM_173174.2(PTK2B):c.1480G>A (p.Glu494Lys) single nucleotide variant Malignant melanoma [RCV000068269] Chr8:27437449 [GRCh38]
Chr8:27294966 [GRCh37]
Chr8:27350883 [NCBI36]
Chr8:8p21.2
not provided
NM_173174.2(PTK2B):c.2548+24G>A single nucleotide variant Malignant melanoma [RCV000068270] Chr8:27451533 [GRCh38]
Chr8:27309050 [GRCh37]
Chr8:27364967 [NCBI36]
Chr8:8p21.2
not provided
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 copy number loss See cases [RCV000136120] Chr8:24910364..31196357 [GRCh38]
Chr8:24767877..31053873 [GRCh37]
Chr8:24823781..31173415 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.2-12(chr8:25171103-31750600)x1 copy number loss See cases [RCV000138081] Chr8:25171103..31750600 [GRCh38]
Chr8:25028618..31608116 [GRCh37]
Chr8:25084535..31727658 [NCBI36]
Chr8:8p21.2-12
pathogenic
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1
uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) copy number gain See cases [RCV000448582] Chr8:24514488..34808438 [GRCh37]
Chr8:8p21.2-12
pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_173176.3(PTK2B):c.77T>C (p.Met26Thr) single nucleotide variant Inborn genetic diseases [RCV003247478] Chr8:27397661 [GRCh38]
Chr8:27255178 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_171982.5(TRIM35):c.8G>A (p.Arg3Gln) single nucleotide variant Inborn genetic diseases [RCV003279703] Chr8:27311228 [GRCh38]
Chr8:27168745 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.2123C>T (p.Thr708Ile) single nucleotide variant Inborn genetic diseases [RCV003257858] Chr8:27442958 [GRCh38]
Chr8:27300475 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.1117C>T (p.Arg373Trp) single nucleotide variant Inborn genetic diseases [RCV003254069] Chr8:27434104 [GRCh38]
Chr8:27291621 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
NM_173176.3(PTK2B):c.1835-9A>G single nucleotide variant not provided [RCV000968622] Chr8:27440228 [GRCh38]
Chr8:27297745 [GRCh37]
Chr8:8p21.2
benign
NM_173176.3(PTK2B):c.791C>A (p.Thr264Asn) single nucleotide variant not provided [RCV000971324] Chr8:27430997 [GRCh38]
Chr8:27288514 [GRCh37]
Chr8:8p21.2
likely benign
NM_173176.3(PTK2B):c.357G>A (p.Glu119=) single nucleotide variant not provided [RCV000923979] Chr8:27420047 [GRCh38]
Chr8:27277564 [GRCh37]
Chr8:8p21.2
likely benign
GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1 copy number loss not provided [RCV000847074] Chr8:22442548..27369334 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
NM_173176.3(PTK2B):c.2171C>A (p.Pro724His) single nucleotide variant Inborn genetic diseases [RCV003239809] Chr8:27444228 [GRCh38]
Chr8:27301745 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.1472G>T (p.Gly491Val) single nucleotide variant Inborn genetic diseases [RCV003270414] Chr8:27437441 [GRCh38]
Chr8:27294958 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.532C>T (p.Leu178=) single nucleotide variant not provided [RCV000975183] Chr8:27422364 [GRCh38]
Chr8:27279881 [GRCh37]
Chr8:8p21.2
benign
NM_173176.3(PTK2B):c.534G>A (p.Leu178=) single nucleotide variant not provided [RCV000953143] Chr8:27422366 [GRCh38]
Chr8:27279883 [GRCh37]
Chr8:8p21.2
benign
NM_173176.3(PTK2B):c.1075C>G (p.Gln359Glu) single nucleotide variant not provided [RCV000955388] Chr8:27433522 [GRCh38]
Chr8:27291039 [GRCh37]
Chr8:8p21.2
likely benign
NM_173176.3(PTK2B):c.1239C>T (p.Pro413=) single nucleotide variant not provided [RCV000956579] Chr8:27435789 [GRCh38]
Chr8:27293306 [GRCh37]
Chr8:8p21.2
benign
GRCh37/hg19 8p21.2-12(chr8:27064033-28832392)x3 copy number gain not provided [RCV002472907] Chr8:27064033..28832392 [GRCh37]
Chr8:8p21.2-12
uncertain significance
GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1 copy number loss not provided [RCV001006090] Chr8:24305969..28673405 [GRCh37]
Chr8:8p21.2-21.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_171982.5(TRIM35):c.363C>T (p.Cys121=) single nucleotide variant not provided [RCV000953142] Chr8:27310873 [GRCh38]
Chr8:27168390 [GRCh37]
Chr8:8p21.2
benign
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12
pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
GRCh37/hg19 8p21.2-11.22(chr8:26808969-38346383)x1 copy number loss not provided [RCV002472596] Chr8:26808969..38346383 [GRCh37]
Chr8:8p21.2-11.22
pathogenic
NM_173176.3(PTK2B):c.1160G>A (p.Arg387Gln) single nucleotide variant Inborn genetic diseases [RCV002682334] Chr8:27434527 [GRCh38]
Chr8:27292044 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_171982.5(TRIM35):c.17A>G (p.Asp6Gly) single nucleotide variant Inborn genetic diseases [RCV002684378] Chr8:27311219 [GRCh38]
Chr8:27168736 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_171982.5(TRIM35):c.305G>A (p.Arg102His) single nucleotide variant Inborn genetic diseases [RCV002997645] Chr8:27310931 [GRCh38]
Chr8:27168448 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.1169A>G (p.His390Arg) single nucleotide variant Inborn genetic diseases [RCV002772332] Chr8:27434536 [GRCh38]
Chr8:27292053 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.8G>A (p.Gly3Glu) single nucleotide variant Inborn genetic diseases [RCV002860843] Chr8:27397592 [GRCh38]
Chr8:27255109 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.1232G>A (p.Arg411Gln) single nucleotide variant Inborn genetic diseases [RCV002729747] Chr8:27435782 [GRCh38]
Chr8:27293299 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.603C>A (p.Phe201Leu) single nucleotide variant Inborn genetic diseases [RCV002752757] Chr8:27430144 [GRCh38]
Chr8:27287661 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_171982.5(TRIM35):c.188G>A (p.Arg63His) single nucleotide variant Inborn genetic diseases [RCV002818771] Chr8:27311048 [GRCh38]
Chr8:27168565 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.1994A>G (p.Asp665Gly) single nucleotide variant Inborn genetic diseases [RCV002981708] Chr8:27440396 [GRCh38]
Chr8:27297913 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.772G>A (p.Ala258Thr) single nucleotide variant Inborn genetic diseases [RCV002739313] Chr8:27430978 [GRCh38]
Chr8:27288495 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.2339G>A (p.Arg780Gln) single nucleotide variant Inborn genetic diseases [RCV002694319] Chr8:27445918 [GRCh38]
Chr8:27303435 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.2384A>G (p.Gln795Arg) single nucleotide variant Inborn genetic diseases [RCV002888743] Chr8:27450792 [GRCh38]
Chr8:27308309 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.2594A>G (p.Gln865Arg) single nucleotide variant Inborn genetic diseases [RCV002844469] Chr8:27453159 [GRCh38]
Chr8:27310676 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.1907G>C (p.Gly636Ala) single nucleotide variant Inborn genetic diseases [RCV002660050] Chr8:27440309 [GRCh38]
Chr8:27297826 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.3026A>T (p.Glu1009Val) single nucleotide variant Inborn genetic diseases [RCV003001411] Chr8:27458505 [GRCh38]
Chr8:27316022 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.65C>T (p.Pro22Leu) single nucleotide variant Inborn genetic diseases [RCV002641928] Chr8:27397649 [GRCh38]
Chr8:27255166 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.2421C>G (p.Ile807Met) single nucleotide variant Inborn genetic diseases [RCV002742248] Chr8:27450829 [GRCh38]
Chr8:27308346 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.2400A>C (p.Glu800Asp) single nucleotide variant Inborn genetic diseases [RCV002892208] Chr8:27450808 [GRCh38]
Chr8:27308325 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.1810A>G (p.Thr604Ala) single nucleotide variant Inborn genetic diseases [RCV002645519] Chr8:27439374 [GRCh38]
Chr8:27296891 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.1538A>G (p.Tyr513Cys) single nucleotide variant Inborn genetic diseases [RCV002768116] Chr8:27437775 [GRCh38]
Chr8:27295292 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.2648A>G (p.Asn883Ser) single nucleotide variant Inborn genetic diseases [RCV002893705] Chr8:27454206 [GRCh38]
Chr8:27311723 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.1240G>A (p.Gly414Arg) single nucleotide variant Inborn genetic diseases [RCV002708422] Chr8:27435790 [GRCh38]
Chr8:27293307 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.1599A>G (p.Ile533Met) single nucleotide variant Inborn genetic diseases [RCV002670000] Chr8:27437836 [GRCh38]
Chr8:27295353 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.2059A>C (p.Lys687Gln) single nucleotide variant Inborn genetic diseases [RCV002809644] Chr8:27442894 [GRCh38]
Chr8:27300411 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.755A>G (p.Asn252Ser) single nucleotide variant Inborn genetic diseases [RCV002855713] Chr8:27430961 [GRCh38]
Chr8:27288478 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_171982.5(TRIM35):c.421G>A (p.Ala141Thr) single nucleotide variant Inborn genetic diseases [RCV003184443] Chr8:27310815 [GRCh38]
Chr8:27168332 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_171982.5(TRIM35):c.157G>T (p.Val53Leu) single nucleotide variant Inborn genetic diseases [RCV003174292] Chr8:27311079 [GRCh38]
Chr8:27168596 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.62G>C (p.Gly21Ala) single nucleotide variant Inborn genetic diseases [RCV003194198] Chr8:27397646 [GRCh38]
Chr8:27255163 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.1837G>A (p.Val613Met) single nucleotide variant Inborn genetic diseases [RCV003194496] Chr8:27440239 [GRCh38]
Chr8:27297756 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.2647A>G (p.Asn883Asp) single nucleotide variant Inborn genetic diseases [RCV003210984] Chr8:27454205 [GRCh38]
Chr8:27311722 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.52C>T (p.Arg18Trp) single nucleotide variant Inborn genetic diseases [RCV003305138] Chr8:27397636 [GRCh38]
Chr8:27255153 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.908A>C (p.Lys303Thr) single nucleotide variant Inborn genetic diseases [RCV003309656] Chr8:27432282 [GRCh38]
Chr8:27289799 [GRCh37]
Chr8:8p21.2
uncertain significance
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12
pathogenic
NM_173176.3(PTK2B):c.50G>A (p.Arg17His) single nucleotide variant Inborn genetic diseases [RCV003347277] Chr8:27397634 [GRCh38]
Chr8:27255151 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.2906G>A (p.Ser969Asn) single nucleotide variant Inborn genetic diseases [RCV003375008] Chr8:27458385 [GRCh38]
Chr8:27315902 [GRCh37]
Chr8:8p21.2
uncertain significance
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1
pathogenic
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21
pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 copy number loss not provided [RCV003483018] Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1
pathogenic
NM_173176.3(PTK2B):c.2799A>G (p.Ser933=) single nucleotide variant not provided [RCV003436826] Chr8:27454596 [GRCh38]
Chr8:27312113 [GRCh37]
Chr8:8p21.2
likely benign
NM_173176.3(PTK2B):c.494G>A (p.Arg165His) single nucleotide variant not provided [RCV003436823] Chr8:27422326 [GRCh38]
Chr8:27279843 [GRCh37]
Chr8:8p21.2
likely benign
NM_173176.3(PTK2B):c.977G>T (p.Gly326Val) single nucleotide variant not provided [RCV003436824] Chr8:27432351 [GRCh38]
Chr8:27289868 [GRCh37]
Chr8:8p21.2
uncertain significance
NM_173176.3(PTK2B):c.2548C>T (p.Leu850=) single nucleotide variant not provided [RCV003436825] Chr8:27451509 [GRCh38]
Chr8:27309026 [GRCh37]
Chr8:8p21.2
likely benign
GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1 copy number loss not specified [RCV003986748] Chr8:23754939..30219110 [GRCh37]
Chr8:8p21.2-12
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21
pathogenic
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 copy number gain not specified [RCV003986767] Chr8:20136266..43786723 [GRCh37]
Chr8:8p21.3-11.1
pathogenic
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3
pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR23Bhsa-miR-23b-3pMirtarbaseexternal_infoImmunoblotFunctional MTI (Weak)22745829
MIR23Bhsa-miR-23b-3pOncomiRDBexternal_infoNANA22745829

Predicted Target Of
Summary Value
Count of predictions:7240
Count of miRNA genes:1204
Interacting mature miRNAs:1546
Transcripts:ENST00000338238, ENST00000346049, ENST00000397497, ENST00000397501, ENST00000412793, ENST00000420218, ENST00000461615, ENST00000482543, ENST00000495097, ENST00000496920, ENST00000517339, ENST00000519512, ENST00000519650, ENST00000521000, ENST00000521164, ENST00000522245, ENST00000522338, ENST00000522517, ENST00000544172
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.

Markers in Region
RH12429  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,316,651 - 27,316,823UniSTSGRCh37
Build 36827,372,568 - 27,372,740RGDNCBI36
Celera826,276,769 - 26,276,941RGD
Cytogenetic Map8p21.1UniSTS
HuRef825,861,713 - 25,861,885UniSTS
GeneMap99-GB4 RH Map8108.5UniSTS
NCBI RH Map8339.8UniSTS
G59208  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,220,901 - 27,221,172UniSTSGRCh37
Build 36827,276,818 - 27,277,089RGDNCBI36
Celera826,181,020 - 26,181,291RGD
Cytogenetic Map8p21.1UniSTS
HuRef825,765,952 - 25,766,223UniSTS
TNG Radiation Hybrid Map813974.0UniSTS
SHGC-147423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,181,085 - 27,181,385UniSTSGRCh37
Build 36827,237,002 - 27,237,302RGDNCBI36
Celera826,141,179 - 26,141,479RGD
Cytogenetic Map8p21.1UniSTS
HuRef825,726,150 - 25,726,450UniSTS
TNG Radiation Hybrid Map813954.0UniSTS
SHGC-154215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,183,392 - 27,183,695UniSTSGRCh37
Build 36827,239,309 - 27,239,612RGDNCBI36
Celera826,143,486 - 26,143,789RGD
Cytogenetic Map8p21.1UniSTS
HuRef825,728,457 - 25,728,760UniSTS
TNG Radiation Hybrid Map813942.0UniSTS
RH69058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,316,100 - 27,316,260UniSTSGRCh37
Build 36827,372,017 - 27,372,177RGDNCBI36
Celera826,276,218 - 26,276,378RGD
Cytogenetic Map8p21.1UniSTS
HuRef825,861,162 - 25,861,322UniSTS
GeneMap99-GB4 RH Map8110.81UniSTS
NCBI RH Map8335.5UniSTS
HSC25C022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,316,629 - 27,316,836UniSTSGRCh37
Build 36827,372,546 - 27,372,753RGDNCBI36
Celera826,276,747 - 26,276,954RGD
Cytogenetic Map8p21.1UniSTS
HuRef825,861,691 - 25,861,898UniSTS
GeneMap99-GB4 RH Map8107.67UniSTS
Whitehead-RH Map8110.1UniSTS
NCBI RH Map8337.7UniSTS
D8S465  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,214,402 - 27,214,579UniSTSGRCh37
Build 36827,270,319 - 27,270,496RGDNCBI36
Celera826,174,521 - 26,174,698RGD
Cytogenetic Map8p21.1UniSTS
HuRef825,759,453 - 25,759,630UniSTS
PTK2B__5609  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37827,316,226 - 27,316,991UniSTSGRCh37
Build 36827,372,143 - 27,372,908RGDNCBI36
Celera826,276,344 - 26,277,109RGD
HuRef825,861,288 - 25,862,053UniSTS


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 adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1684 1900 1227 239 1924 83 3149 558 3092 206 1136 1450 165 1106 1915 2
Low 753 1082 494 384 26 381 1204 1633 624 213 312 157 7 98 873 2 2
Below cutoff 2 5 1 1 3 3 14 9 5 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005273448 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011544442 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421534 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421536 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421543 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421546 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421547 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421549 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047421564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360055 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360077 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360081 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054360091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC124649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF311103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK128371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL120380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW130888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY429564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC042599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF796371 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM712234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ009032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D45853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA773624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ590775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877228 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458717 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L49207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U33284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U43522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000346049   ⟹   ENSP00000332816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,325,552 - 27,459,386 (+)Ensembl
RefSeq Acc Id: ENST00000397497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,430,899 - 27,452,559 (+)Ensembl
RefSeq Acc Id: ENST00000397501   ⟹   ENSP00000380638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,311,482 - 27,459,390 (+)Ensembl
RefSeq Acc Id: ENST00000412793   ⟹   ENSP00000416174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,380,651 - 27,430,388 (+)Ensembl
RefSeq Acc Id: ENST00000420218   ⟹   ENSP00000391995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,325,564 - 27,459,391 (+)Ensembl
RefSeq Acc Id: ENST00000461615
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,432,103 - 27,434,522 (+)Ensembl
RefSeq Acc Id: ENST00000482543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,452,857 - 27,454,587 (+)Ensembl
RefSeq Acc Id: ENST00000495097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,437,455 - 27,437,992 (+)Ensembl
RefSeq Acc Id: ENST00000496920
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,380,654 - 27,396,295 (+)Ensembl
RefSeq Acc Id: ENST00000517339   ⟹   ENSP00000427931
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,397,452 - 27,459,386 (+)Ensembl
RefSeq Acc Id: ENST00000519512   ⟹   ENSP00000428837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,430,887 - 27,436,308 (+)Ensembl
RefSeq Acc Id: ENST00000519650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,311,567 - 27,322,817 (+)Ensembl
RefSeq Acc Id: ENST00000521000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,422,276 - 27,431,206 (+)Ensembl
RefSeq Acc Id: ENST00000521164   ⟹   ENSP00000430404
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,325,345 - 27,420,001 (+)Ensembl
RefSeq Acc Id: ENST00000522245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,454,031 - 27,458,474 (+)Ensembl
RefSeq Acc Id: ENST00000522338   ⟹   ENSP00000429694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,311,629 - 27,397,789 (+)Ensembl
RefSeq Acc Id: ENST00000522517   ⟹   ENSP00000428271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl827,326,823 - 27,422,385 (+)Ensembl
RefSeq Acc Id: NM_004103   ⟹   NP_004094
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,322,402 - 27,459,391 (+)NCBI
GRCh37827,168,999 - 27,316,908 (+)ENTREZGENE
Build 36827,224,916 - 27,372,820 (+)NCBI Archive
HuRef825,714,123 - 25,861,970 (+)ENTREZGENE
CHM1_1827,381,843 - 27,518,777 (+)NCBI
T2T-CHM13v2.0827,599,234 - 27,736,745 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173174   ⟹   NP_775266
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,386 (+)NCBI
GRCh37827,168,999 - 27,316,908 (+)ENTREZGENE
Build 36827,224,916 - 27,372,820 (+)NCBI Archive
HuRef825,714,123 - 25,861,970 (+)ENTREZGENE
CHM1_1827,370,923 - 27,518,777 (+)NCBI
T2T-CHM13v2.0827,588,301 - 27,736,740 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173175   ⟹   NP_775267
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,325,564 - 27,459,391 (+)NCBI
GRCh37827,168,999 - 27,316,908 (+)ENTREZGENE
Build 36827,238,998 - 27,372,820 (+)NCBI Archive
HuRef825,714,123 - 25,861,970 (+)ENTREZGENE
CHM1_1827,385,005 - 27,518,777 (+)NCBI
T2T-CHM13v2.0827,602,396 - 27,736,745 (+)NCBI
Sequence:
RefSeq Acc Id: NM_173176   ⟹   NP_775268
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,325,552 - 27,459,386 (+)NCBI
GRCh37827,168,999 - 27,316,908 (+)ENTREZGENE
Build 36827,238,971 - 27,372,820 (+)NCBI Archive
HuRef825,714,123 - 25,861,970 (+)ENTREZGENE
CHM1_1827,384,920 - 27,518,777 (+)NCBI
T2T-CHM13v2.0827,602,384 - 27,736,740 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005273447   ⟹   XP_005273504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,380,662 - 27,459,391 (+)NCBI
GRCh37827,168,999 - 27,316,908 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544441   ⟹   XP_011542743
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,326,782 - 27,459,391 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011544442   ⟹   XP_011542744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013214   ⟹   XP_016868703
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,324,984 - 27,459,391 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013215   ⟹   XP_016868704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,326,782 - 27,459,391 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013216   ⟹   XP_016868705
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047421531   ⟹   XP_047277487
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421532   ⟹   XP_047277488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421533   ⟹   XP_047277489
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421534   ⟹   XP_047277490
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421535   ⟹   XP_047277491
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421536   ⟹   XP_047277492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421537   ⟹   XP_047277493
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421538   ⟹   XP_047277494
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421539   ⟹   XP_047277495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421540   ⟹   XP_047277496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421541   ⟹   XP_047277497
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,380,662 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421542   ⟹   XP_047277498
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,386,275 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421543   ⟹   XP_047277499
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421544   ⟹   XP_047277500
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,310,506 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421545   ⟹   XP_047277501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,310,506 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421546   ⟹   XP_047277502
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421547   ⟹   XP_047277503
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421548   ⟹   XP_047277504
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421549   ⟹   XP_047277505
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421550   ⟹   XP_047277506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421551   ⟹   XP_047277507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421552   ⟹   XP_047277508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,310,506 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421553   ⟹   XP_047277509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,380,662 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421555   ⟹   XP_047277511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421556   ⟹   XP_047277512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421557   ⟹   XP_047277513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421558   ⟹   XP_047277514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421559   ⟹   XP_047277515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,380,662 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421560   ⟹   XP_047277516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,380,662 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421561   ⟹   XP_047277517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,326,782 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421562   ⟹   XP_047277518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,380,662 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421563   ⟹   XP_047277519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_047421564   ⟹   XP_047277520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,380,662 - 27,459,391 (+)NCBI
RefSeq Acc Id: XM_054360052   ⟹   XP_054216027
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360053   ⟹   XP_054216028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360054   ⟹   XP_054216029
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,308 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360055   ⟹   XP_054216030
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360056   ⟹   XP_054216031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360057   ⟹   XP_054216032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360058   ⟹   XP_054216033
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360059   ⟹   XP_054216034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360060   ⟹   XP_054216035
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360061   ⟹   XP_054216036
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360062   ⟹   XP_054216037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,601,816 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360063   ⟹   XP_054216038
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,657,199 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360064   ⟹   XP_054216039
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,603,064 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360065   ⟹   XP_054216040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,657,198 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360066   ⟹   XP_054216041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,663,090 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360067   ⟹   XP_054216042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,308 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360068   ⟹   XP_054216043
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,583,138 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360069   ⟹   XP_054216044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,583,138 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360070   ⟹   XP_054216045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360071   ⟹   XP_054216046
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360072   ⟹   XP_054216047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360073   ⟹   XP_054216048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360074   ⟹   XP_054216049
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360075   ⟹   XP_054216050
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360076   ⟹   XP_054216051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360077   ⟹   XP_054216052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,583,138 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360078   ⟹   XP_054216053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,603,176 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360079   ⟹   XP_054216054
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,657,196 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360080   ⟹   XP_054216055
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360081   ⟹   XP_054216056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,602,384 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360082   ⟹   XP_054216057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360083   ⟹   XP_054216058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360084   ⟹   XP_054216059
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360085   ⟹   XP_054216060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360086   ⟹   XP_054216061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,653,066 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360087   ⟹   XP_054216062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,657,200 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360088   ⟹   XP_054216063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,603,180 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360089   ⟹   XP_054216064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,657,197 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360090   ⟹   XP_054216065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,588,301 - 27,736,745 (+)NCBI
RefSeq Acc Id: XM_054360091   ⟹   XP_054216066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0827,657,198 - 27,736,745 (+)NCBI
Protein Sequences
Protein RefSeqs NP_004094 (Get FASTA)   NCBI Sequence Viewer  
  NP_775266 (Get FASTA)   NCBI Sequence Viewer  
  NP_775267 (Get FASTA)   NCBI Sequence Viewer  
  NP_775268 (Get FASTA)   NCBI Sequence Viewer  
  XP_005273504 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542743 (Get FASTA)   NCBI Sequence Viewer  
  XP_011542744 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868703 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868704 (Get FASTA)   NCBI Sequence Viewer  
  XP_016868705 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277487 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277488 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277489 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277490 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277491 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277492 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277493 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277494 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277495 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277496 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277497 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277498 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277499 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277500 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277501 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277502 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277503 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277504 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277505 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277506 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277507 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277508 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277509 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277511 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277512 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277513 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277514 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277515 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277516 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277517 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277518 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277519 (Get FASTA)   NCBI Sequence Viewer  
  XP_047277520 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216027 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216028 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216029 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216030 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216031 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216032 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216033 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216034 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216035 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216036 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216037 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216038 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216039 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216040 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216041 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216042 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216043 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216044 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216045 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216046 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216047 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216048 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216049 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216050 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216051 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216052 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216053 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216054 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216055 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216056 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216057 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216058 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216059 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216060 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216061 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216062 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216063 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216064 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216065 (Get FASTA)   NCBI Sequence Viewer  
  XP_054216066 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB47217 (Get FASTA)   NCBI Sequence Viewer  
  AAC05330 (Get FASTA)   NCBI Sequence Viewer  
  AAC50203 (Get FASTA)   NCBI Sequence Viewer  
  AAH36651 (Get FASTA)   NCBI Sequence Viewer  
  AAH42599 (Get FASTA)   NCBI Sequence Viewer  
  BAA08289 (Get FASTA)   NCBI Sequence Viewer  
  BAC87404 (Get FASTA)   NCBI Sequence Viewer  
  BAD92322 (Get FASTA)   NCBI Sequence Viewer  
  EAW63553 (Get FASTA)   NCBI Sequence Viewer  
  EAW63554 (Get FASTA)   NCBI Sequence Viewer  
  EAW63555 (Get FASTA)   NCBI Sequence Viewer  
  EAW63556 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000332816
  ENSP00000332816.6
  ENSP00000380638
  ENSP00000380638.1
  ENSP00000391995
  ENSP00000391995.2
  ENSP00000416174.1
  ENSP00000427931
  ENSP00000427931.1
  ENSP00000428271.1
  ENSP00000428837.1
  ENSP00000429694.1
  ENSP00000430404.1
GenBank Protein Q14289 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_775266   ⟸   NM_173174
- Peptide Label: isoform a
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_004094   ⟸   NM_004103
- Peptide Label: isoform a
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_775268   ⟸   NM_173176
- Peptide Label: isoform a
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_775267   ⟸   NM_173175
- Peptide Label: isoform b
- UniProtKB: Q14289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005273504   ⟸   XM_005273447
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011542744   ⟸   XM_011544442
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011542743   ⟸   XM_011544441
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868703   ⟸   XM_017013214
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016868705   ⟸   XM_017013216
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_016868704   ⟸   XM_017013215
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: ENSP00000427931   ⟸   ENST00000517339
RefSeq Acc Id: ENSP00000332816   ⟸   ENST00000346049
RefSeq Acc Id: ENSP00000428837   ⟸   ENST00000519512
RefSeq Acc Id: ENSP00000416174   ⟸   ENST00000412793
RefSeq Acc Id: ENSP00000430404   ⟸   ENST00000521164
RefSeq Acc Id: ENSP00000428271   ⟸   ENST00000522517
RefSeq Acc Id: ENSP00000429694   ⟸   ENST00000522338
RefSeq Acc Id: ENSP00000391995   ⟸   ENST00000420218
RefSeq Acc Id: ENSP00000380638   ⟸   ENST00000397501
RefSeq Acc Id: XP_047277500   ⟸   XM_047421544
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277501   ⟸   XM_047421545
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277508   ⟸   XM_047421552
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047277499   ⟸   XM_047421543
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277488   ⟸   XM_047421532
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277489   ⟸   XM_047421533
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277513   ⟸   XM_047421557
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047277495   ⟸   XM_047421539
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277493   ⟸   XM_047421537
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277494   ⟸   XM_047421538
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277507   ⟸   XM_047421551
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047277503   ⟸   XM_047421547
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047277511   ⟸   XM_047421555
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047277505   ⟸   XM_047421549
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047277519   ⟸   XM_047421563
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047277487   ⟸   XM_047421531
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277504   ⟸   XM_047421548
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047277512   ⟸   XM_047421556
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047277502   ⟸   XM_047421546
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277492   ⟸   XM_047421536
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277506   ⟸   XM_047421550
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047277491   ⟸   XM_047421535
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277514   ⟸   XM_047421558
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047277490   ⟸   XM_047421534
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277496   ⟸   XM_047421540
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277517   ⟸   XM_047421561
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047277497   ⟸   XM_047421541
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047277516   ⟸   XM_047421560
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047277515   ⟸   XM_047421559
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047277518   ⟸   XM_047421562
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047277509   ⟸   XM_047421553
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047277520   ⟸   XM_047421564
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047277498   ⟸   XM_047421542
- Peptide Label: isoform X1
- UniProtKB: Q16709 (UniProtKB/Swiss-Prot),   Q14290 (UniProtKB/Swiss-Prot),   Q14289 (UniProtKB/Swiss-Prot),   Q13475 (UniProtKB/Swiss-Prot),   D3DST0 (UniProtKB/Swiss-Prot),   Q6PID4 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216043   ⟸   XM_054360068
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216044   ⟸   XM_054360069
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216052   ⟸   XM_054360077
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054216028   ⟸   XM_054360053
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216059   ⟸   XM_054360084
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054216035   ⟸   XM_054360060
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216033   ⟸   XM_054360058
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216034   ⟸   XM_054360059
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216051   ⟸   XM_054360076
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054216046   ⟸   XM_054360071
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054216057   ⟸   XM_054360082
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054216048   ⟸   XM_054360073
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054216065   ⟸   XM_054360090
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054216027   ⟸   XM_054360052
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216047   ⟸   XM_054360072
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054216058   ⟸   XM_054360083
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054216049   ⟸   XM_054360074
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054216055   ⟸   XM_054360080
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054216045   ⟸   XM_054360070
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216032   ⟸   XM_054360057
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216050   ⟸   XM_054360075
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054216031   ⟸   XM_054360056
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216060   ⟸   XM_054360085
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054216030   ⟸   XM_054360055
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216036   ⟸   XM_054360061
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216042   ⟸   XM_054360067
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216029   ⟸   XM_054360054
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216037   ⟸   XM_054360062
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216056   ⟸   XM_054360081
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054216039   ⟸   XM_054360064
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216053   ⟸   XM_054360078
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054216063   ⟸   XM_054360088
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054216061   ⟸   XM_054360086
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054216054   ⟸   XM_054360079
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054216064   ⟸   XM_054360089
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054216040   ⟸   XM_054360065
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216066   ⟸   XM_054360091
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054216038   ⟸   XM_054360063
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054216062   ⟸   XM_054360087
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054216041   ⟸   XM_054360066
- Peptide Label: isoform X1
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q14289-F1-model_v2 AlphaFold Q14289 1-1009 view protein structure

Promoters
RGD ID:6807099
Promoter ID:HG_KWN:60986
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000338238,   ENST00000380544,   NM_004103,   NM_171982,   NM_173174,   UC003XFM.1,   UC010LUP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36827,223,831 - 27,225,137 (-)MPROMDB
RGD ID:6806963
Promoter ID:HG_KWN:60987
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_173175,   NM_173176
Position:
Human AssemblyChrPosition (strand)Source
Build 36827,238,331 - 27,239,097 (+)MPROMDB
RGD ID:6813486
Promoter ID:HG_ACW:76377
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:PTK2B.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36827,239,681 - 27,240,547 (+)MPROMDB
RGD ID:6806968
Promoter ID:HG_KWN:60989
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000259141,   OTTHUMT00000259142
Position:
Human AssemblyChrPosition (strand)Source
Build 36827,293,656 - 27,294,232 (+)MPROMDB
RGD ID:7212937
Promoter ID:EPDNEW_H12214
Type:initiation region
Name:PTK2B_3
Description:protein tyrosine kinase 2 beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12218  EPDNEW_H12219  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,310,506 - 27,310,566EPDNEW
RGD ID:7212945
Promoter ID:EPDNEW_H12218
Type:initiation region
Name:PTK2B_2
Description:protein tyrosine kinase 2 beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12214  EPDNEW_H12219  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,311,478 - 27,311,538EPDNEW
RGD ID:7212947
Promoter ID:EPDNEW_H12219
Type:initiation region
Name:PTK2B_1
Description:protein tyrosine kinase 2 beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12214  EPDNEW_H12218  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38827,325,558 - 27,325,618EPDNEW
RGD ID:6806970
Promoter ID:HG_KWN:60990
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000397497,   UC003XFR.1,   UC010LUQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36827,343,331 - 27,344,642 (+)MPROMDB
RGD ID:6806967
Promoter ID:HG_KWN:60991
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000259140
Position:
Human AssemblyChrPosition (strand)Source
Build 36827,344,916 - 27,345,942 (+)MPROMDB
RGD ID:6806966
Promoter ID:HG_KWN:60992
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000259139
Position:
Human AssemblyChrPosition (strand)Source
Build 36827,350,041 - 27,351,342 (+)MPROMDB
RGD ID:6806969
Promoter ID:HG_KWN:60993
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC003XFS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36827,363,396 - 27,364,447 (+)MPROMDB
RGD ID:6806965
Promoter ID:HG_KWN:60994
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000259138
Position:
Human AssemblyChrPosition (strand)Source
Build 36827,365,331 - 27,366,782 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9612 AgrOrtholog
COSMIC PTK2B COSMIC
Ensembl Genes ENSG00000120899 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000346049 ENTREZGENE
  ENST00000346049.10 UniProtKB/Swiss-Prot
  ENST00000397501 ENTREZGENE
  ENST00000397501.5 UniProtKB/Swiss-Prot
  ENST00000412793.5 UniProtKB/TrEMBL
  ENST00000420218 ENTREZGENE
  ENST00000420218.3 UniProtKB/Swiss-Prot
  ENST00000517339 ENTREZGENE
  ENST00000517339.5 UniProtKB/Swiss-Prot
  ENST00000519512.5 UniProtKB/TrEMBL
  ENST00000521164.5 UniProtKB/TrEMBL
  ENST00000522338.5 UniProtKB/TrEMBL
  ENST00000522517.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.80.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotidyltransferases domain 2 UniProtKB/Swiss-Prot
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000120899 GTEx
HGNC ID HGNC:9612 ENTREZGENE
Human Proteome Map PTK2B Human Proteome Map
InterPro Band_41_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FADK_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAK1-like_FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAK1/PYK2_FERM_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM/acyl-CoA-bd_prot_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_central UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Focal_adhe_kin_target_dom_sf UniProtKB/Swiss-Prot
  Focal_adhesion_kin_target_dom UniProtKB/Swiss-Prot
  Kinase-like_dom_sf UniProtKB/Swiss-Prot
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  Ser-Thr/Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  Tyr_kinase_AS UniProtKB/Swiss-Prot
  Tyr_kinase_cat_dom UniProtKB/Swiss-Prot
  Ubiquitin-like_domsf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2185 UniProtKB/Swiss-Prot
NCBI Gene 2185 ENTREZGENE
OMIM 601212 OMIM
PANTHER FERM AND PDZ DOMAIN-CONTAINING PROTEIN FAMILY MEMBER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NON-SPECIFIC PROTEIN-TYROSINE KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FERM_C_FAK1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_M UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FERM_N_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Focal_AT UniProtKB/Swiss-Prot
  Pkinase_Tyr UniProtKB/Swiss-Prot
PharmGKB PA33956 PharmGKB
PRINTS TYRKINASE UniProtKB/Swiss-Prot
PROSITE FERM_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_TYR UniProtKB/Swiss-Prot
SMART B41 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TyrKc UniProtKB/Swiss-Prot
Superfamily-SCOP PH domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47031 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54236 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56112 UniProtKB/Swiss-Prot
  SSF68993 UniProtKB/Swiss-Prot
UniProt C9JHV9_HUMAN UniProtKB/TrEMBL
  D3DST0 ENTREZGENE
  E5RHL2_HUMAN UniProtKB/TrEMBL
  E5RJ77_HUMAN UniProtKB/TrEMBL
  E5RK84_HUMAN UniProtKB/TrEMBL
  FAK2_HUMAN UniProtKB/Swiss-Prot
  H0YB74_HUMAN UniProtKB/TrEMBL
  Q13475 ENTREZGENE
  Q14289 ENTREZGENE
  Q14290 ENTREZGENE
  Q16709 ENTREZGENE
  Q6PID4 ENTREZGENE
UniProt Secondary D3DST0 UniProtKB/Swiss-Prot
  Q13475 UniProtKB/Swiss-Prot
  Q14290 UniProtKB/Swiss-Prot
  Q16709 UniProtKB/Swiss-Prot
  Q6PID4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2013-03-12 PTK2B  protein tyrosine kinase 2 beta  PTK2B  PTK2B protein tyrosine kinase 2 beta  Symbol and/or name change 5135510 APPROVED