PPBP (pro-platelet basic protein) - Rat Genome Database

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Gene: PPBP (pro-platelet basic protein) Homo sapiens
Analyze
Symbol: PPBP
Name: pro-platelet basic protein
RGD ID: 736390
HGNC Page HGNC:9240
Description: Predicted to enable CXCR chemokine receptor binding activity and chemokine activity. Involved in antimicrobial humoral immune response mediated by antimicrobial peptide. Located in platelet alpha granule. Implicated in clear cell renal cell carcinoma. Biomarker of several diseases, including adult respiratory distress syndrome; aortic atherosclerosis; autoimmune disease (multiple); clear cell renal cell carcinoma; and ischemia (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: B-TG1; Beta-TG; beta-thromboglobulin; C-X-C motif chemokine 7; chemokine (C-X-C motif) ligand 7; connective tissue-activating peptide III; CTAP-III; CTAP3; CTAPIII; CXC chemokine ligand 7; CXCL7; LA-PF4; LDGF; leukocyte-derived growth factor; low-affinity platelet factor IV; macrophage-derived growth factor; MDGF; NAP-2; neutrophil-activating peptide 2; neutrophil-activating peptide-2; PBP; platelet basic protein; pro-platelet basic protein (chemokine (C-X-C motif) ligand 7); SCAR10; SCYB7; small inducible cytokine B7; small inducible cytokine subfamily B, member 7; small-inducible cytokine B7; TC1; TC2; TGB; TGB1; THBGB; THBGB1; thrombocidin 1; thrombocidin 2; thromboglobulin, beta-1
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Related Pseudogenes: PPBPP1   PPBPP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38473,986,439 - 73,988,190 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl473,986,439 - 73,988,190 (-)EnsemblGRCh38hg38GRCh38
GRCh37474,852,156 - 74,853,907 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36475,071,619 - 75,072,764 (-)NCBINCBI36Build 36hg18NCBI36
Build 34475,217,792 - 75,218,935NCBI
Celera472,212,305 - 72,214,056 (-)NCBICelera
Cytogenetic Map4q13.3NCBI
HuRef470,663,087 - 70,664,838 (-)NCBIHuRef
CHM1_1474,888,045 - 74,889,796 (-)NCBICHM1_1
T2T-CHM13v2.0477,330,080 - 77,331,831 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1-chloro-2,4-dinitrobenzene  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (EXP)
3-methylcholanthrene  (ISO)
3-phenylprop-2-enal  (EXP)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
4-nitroquinoline N-oxide  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrylamide  (ISO)
ADP  (EXP)
amlodipine  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
arsane  (EXP,ISO)
arsenic atom  (EXP,ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (ISO)
butanal  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
carbon nanotube  (EXP,ISO)
CGP 52608  (EXP)
chloropicrin  (EXP)
cobalt atom  (ISO)
cocaine  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
crocidolite asbestos  (ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
diclofenac  (ISO)
dimercaprol  (ISO)
dioxygen  (ISO)
doxorubicin  (ISO)
entinostat  (EXP)
eugenol  (EXP)
fenvalerate  (ISO)
genistein  (ISO)
graphene oxide  (ISO)
heparin  (EXP)
indometacin  (ISO)
lipopolysaccharide  (EXP)
medroxyprogesterone acetate  (EXP)
N-acetyl-L-cysteine  (EXP)
nickel atom  (EXP)
nortriptyline  (EXP)
ozone  (EXP,ISO)
paracetamol  (ISO)
paroxetine  (EXP)
phorbol 13-acetate 12-myristate  (EXP,ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
poly(styrene)  (EXP)
rotenone  (ISO)
sertraline  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
testosterone  (ISO)
Thrombin  (EXP)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
tremolite asbestos  (ISO)
tributylstannane  (ISO)
trichloroethene  (ISO)
valproic acid  (EXP)
verapamil  (EXP)
XL147  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)
zoledronic acid  (EXP)

References

References - curated
# Reference Title Reference Citation
1. Neutrophil-activating peptide-2 in patients with pulmonary edema from congestive heart failure or ARDS. Cohen AB, etal., Am J Physiol. 1993 May;264(5 Pt 1):L490-5. doi: 10.1152/ajplung.1993.264.5.L490.
2. Novel TIA biomarkers identified by mass spectrometry-based proteomics. George PM, etal., Int J Stroke. 2015 Dec;10(8):1204-11. doi: 10.1111/ijs.12603. Epub 2015 Aug 26.
3. The CXCR1/2 ligand NAP-2 promotes directed intravascular leukocyte migration through platelet thrombi. Ghasemzadeh M, etal., Blood. 2013 May 30;121(22):4555-66. doi: 10.1182/blood-2012-09-459636. Epub 2013 Apr 2.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. The CXCL7/CXCR1/2 axis is a key driver in the growth of clear cell renal cell carcinoma. Grépin R, etal., Cancer Res. 2014 Feb 1;74(3):873-83. doi: 10.1158/0008-5472.CAN-13-1267. Epub 2013 Dec 12.
6. Hypothermia-induced activation of the splenic platelet pool as a risk factor for thrombotic disease in a mouse model. Horioka K, etal., J Thromb Haemost. 2019 Oct;17(10):1762-1771. doi: 10.1111/jth.14555. Epub 2019 Jul 17.
7. Di-n-butyl phthalate induces oversecretion of vascular endothelium-derived NAP-2 and promotes epithelial-mesenchymal transition of urothelial cells in newborn hypospadias rats. Hua S, etal., Ecotoxicol Environ Saf. 2023 May;256:114892. doi: 10.1016/j.ecoenv.2023.114892. Epub 2023 Apr 12.
8. PPBP gene as a biomarker for coronary heart disease risk in postmenopausal Thai women. Mansanguan C and Maneerat Y, PeerJ. 2022 Jun 17;10:e13615. doi: 10.7717/peerj.13615. eCollection 2022.
9. Elevated expression of platelet-derived chemokines in patients with antiphospholipid syndrome. Patsouras MD, etal., J Autoimmun. 2015 Dec;65:30-7. doi: 10.1016/j.jaut.2015.08.001. Epub 2015 Aug 15.
10. Platelet activation in chronic cocaine users: effect of short term abstinence. Pereira J, etal., Platelets. 2011;22(8):596-601. doi: 10.3109/09537104.2011.578181. Epub 2011 Aug 2.
11. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
12. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
13. Increased levels of neutrophil-activating peptide-2 in acute coronary syndromes: possible role of platelet-mediated vascular inflammation. Smith C, etal., J Am Coll Cardiol. 2006 Oct 17;48(8):1591-9. doi: 10.1016/j.jacc.2006.06.060. Epub 2006 Sep 27.
14. Platelet factor 4 and β-thromboglobulin mRNAs in circulating microparticles of trauma patients as diagnostic markers for deep vein thrombosis. Su Y, etal., J Thromb Thrombolysis. 2020 Oct;50(3):525-532. doi: 10.1007/s11239-020-02124-5.
15. rLj-RGD3, a novel recombinant toxin protein from Lampetra japonica, prevents coronary thrombosis-induced acute myocardial infarction by inhibiting platelet functions in rats. Wang S, etal., Biochem Biophys Res Commun. 2018 Mar 25;498(1):240-245. doi: 10.1016/j.bbrc.2018.02.021. Epub 2018 Feb 3.
16. Plasma NAP-2 levels are associated with critical limb ischemia in peripheral arterial disease patients. Wang X, etal., Exp Biol Med (Maywood). 2019 Jan;244(1):22-27. doi: 10.1177/1535370218823684. Epub 2019 Jan 12.
17. Immune cell profiling of COVID-19 patients in the recovery stage by single-cell sequencing. Wen W, etal., Cell Discov. 2020 May 4;6:31. doi: 10.1038/s41421-020-0168-9. eCollection 2020.
18. Plasma beta-thromboglobulin and platelet factor 4 concentrations in patients with atrial fibrillation. Yamauchi K, etal., Jpn Heart J. 1986 Jul;27(4):481-7. doi: 10.1536/ihj.27.481.
19. [Changes of platelet rheological behavior and the interventional effects of ulinastatin in rats with high-voltage electrical burns]. Zhang QF, etal., Zhonghua Shao Shang Za Zhi. 2017 Dec 20;33(12):744-749. doi: 10.3760/cma.j.issn.1009-2587.2017.12.005.
20. Mining biomarkers in human sera using proteomic tools. Zhang R, etal., Proteomics. 2004 Jan;4(1):244-56.
21. Neutrophil-activating Peptide 2 as a Novel Modulator of Fibrin Clot Properties in Patients with Atrial Fibrillation. ZÄ…bczyk M, etal., Transl Stroke Res. 2023 Jun 9:1-11. doi: 10.1007/s12975-023-01165-1.
Additional References at PubMed
PMID:47244   PMID:77677   PMID:426909   PMID:1316786   PMID:1387511   PMID:1427896   PMID:1826003   PMID:1830861   PMID:1837963   PMID:1873479   PMID:2007144   PMID:2406364  
PMID:2423119   PMID:2522778   PMID:2713489   PMID:2783111   PMID:2834384   PMID:2966071   PMID:4005226   PMID:6183294   PMID:6572368   PMID:7706245   PMID:7890771   PMID:8034022  
PMID:8051099   PMID:8195702   PMID:8580362   PMID:8702798   PMID:8950790   PMID:9725262   PMID:9794434   PMID:10049766   PMID:10343098   PMID:10419831   PMID:10877842   PMID:11167759  
PMID:11468158   PMID:12193731   PMID:12297130   PMID:12477932   PMID:12665801   PMID:12878486   PMID:14673015   PMID:15115243   PMID:15174051   PMID:15316029   PMID:15340161   PMID:15489334  
PMID:15815621   PMID:16169070   PMID:16317101   PMID:16344560   PMID:16391012   PMID:16712791   PMID:16806233   PMID:16807663   PMID:17192395   PMID:17220270   PMID:17700216   PMID:17703412  
PMID:18240029   PMID:18577758   PMID:18632422   PMID:18707017   PMID:18797178   PMID:19258923   PMID:19913121   PMID:20224257   PMID:20237496   PMID:20503287   PMID:20510637   PMID:20628086  
PMID:21442287   PMID:21873635   PMID:21900206   PMID:21988832   PMID:22101183   PMID:22740477   PMID:22916037   PMID:22939812   PMID:23052484   PMID:23619231   PMID:24991762   PMID:25580640  
PMID:25858640   PMID:25989537   PMID:26297927   PMID:27052313   PMID:27082063   PMID:27211553   PMID:27911324   PMID:27959418   PMID:28368308   PMID:28381538   PMID:28384443   PMID:28420383  
PMID:28467728   PMID:28531882   PMID:28985012   PMID:29317355   PMID:29356357   PMID:29782494   PMID:32341585   PMID:32419252   PMID:32814053   PMID:34789744   PMID:35332176   PMID:36184052  
PMID:36398464   PMID:37115730  


Genomics

Comparative Map Data
PPBP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38473,986,439 - 73,988,190 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl473,986,439 - 73,988,190 (-)EnsemblGRCh38hg38GRCh38
GRCh37474,852,156 - 74,853,907 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36475,071,619 - 75,072,764 (-)NCBINCBI36Build 36hg18NCBI36
Build 34475,217,792 - 75,218,935NCBI
Celera472,212,305 - 72,214,056 (-)NCBICelera
Cytogenetic Map4q13.3NCBI
HuRef470,663,087 - 70,664,838 (-)NCBIHuRef
CHM1_1474,888,045 - 74,889,796 (-)NCBICHM1_1
T2T-CHM13v2.0477,330,080 - 77,331,831 (-)NCBIT2T-CHM13v2.0
Ppbp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39590,916,377 - 90,917,922 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl590,916,377 - 90,917,922 (+)EnsemblGRCm39 Ensembl
GRCm38590,768,518 - 90,770,063 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl590,768,518 - 90,770,063 (+)EnsemblGRCm38mm10GRCm38
MGSCv37591,197,544 - 91,199,086 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36591,843,718 - 91,845,260 (+)NCBIMGSCv36mm8
Celera588,920,145 - 88,921,687 (+)NCBICelera
Cytogenetic Map5E1NCBI
cM Map544.78NCBI
Ppbp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81417,586,495 - 17,587,299 (-)NCBIGRCr8
mRatBN7.21417,302,326 - 17,303,130 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1417,302,326 - 17,303,130 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1417,302,459 - 17,303,263 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01418,621,380 - 18,622,184 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01417,313,684 - 17,314,488 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01418,852,433 - 18,853,237 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1418,851,954 - 18,853,315 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01418,762,075 - 18,762,879 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41418,816,434 - 18,817,238 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11418,816,433 - 18,817,238 (-)NCBI
Celera1416,678,302 - 16,679,106 (-)NCBICelera
Cytogenetic Map14p22NCBI
PPBP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2356,071,080 - 56,073,080 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1456,260,189 - 56,262,313 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0450,203,168 - 50,204,303 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1456,035,433 - 56,036,580 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl456,035,060 - 56,037,702 (+)Ensemblpanpan1.1panPan2
PPBP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11362,526,571 - 62,528,527 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1362,526,571 - 62,528,527 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1362,195,002 - 62,196,958 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01363,324,944 - 63,340,541 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1363,337,296 - 63,339,253 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11362,947,100 - 62,949,055 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01362,436,835 - 62,438,791 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01363,577,683 - 63,579,641 (+)NCBIUU_Cfam_GSD_1.0
Ppbp
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528513,267,431 - 13,268,872 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365981,719,480 - 1,720,911 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365981,719,501 - 1,720,890 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PPBP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl870,021,439 - 70,023,964 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1870,021,468 - 70,022,490 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2874,173,312 - 74,174,334 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PPBP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1722,470,670 - 22,471,841 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl722,470,573 - 22,471,809 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666084305,796 - 308,564 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PPBP
7 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 4q13.3-21.21(chr4:71128874-78099088)x3 copy number gain See cases [RCV000051774] Chr4:71128874..78099088 [GRCh38]
Chr4:71994591..79020242 [GRCh37]
Chr4:72213455..79239266 [NCBI36]
Chr4:4q13.3-21.21
pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3
pathogenic
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]|See cases [RCV000053294] Chr4:67869564..85517308 [GRCh38]
Chr4:68735282..86438461 [GRCh37]
Chr4:68417877..86657485 [NCBI36]
Chr4:4q13.2-21.23
pathogenic
GRCh38/hg38 4q13.3-21.22(chr4:71079179-81802208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053295]|See cases [RCV000053295] Chr4:71079179..81802208 [GRCh38]
Chr4:71944896..82723361 [GRCh37]
Chr4:72163760..82942385 [NCBI36]
Chr4:4q13.3-21.22
pathogenic
NM_002704.3(PPBP):c.298G>A (p.Asp100Asn) single nucleotide variant Malignant melanoma [RCV000066528] Chr4:73987361 [GRCh38]
Chr4:74853078 [GRCh37]
Chr4:75071942 [NCBI36]
Chr4:4q13.3
not provided
NM_002704.3(PPBP):c.80C>T (p.Ser27Leu) single nucleotide variant Malignant melanoma [RCV000066529] Chr4:73988024 [GRCh38]
Chr4:74853741 [GRCh37]
Chr4:75072605 [NCBI36]
Chr4:4q13.3
not provided
NM_002704.3(PPBP):c.116G>A (p.Gly39Glu) single nucleotide variant Malignant melanoma [RCV000061043] Chr4:73987988 [GRCh38]
Chr4:74853705 [GRCh37]
Chr4:75072569 [NCBI36]
Chr4:4q13.3
not provided
GRCh38/hg38 4q13.2-13.3(chr4:67799665-74240920)x1 copy number loss See cases [RCV000137622] Chr4:67799665..74240920 [GRCh38]
Chr4:68665383..75106637 [GRCh37]
Chr4:68347978..75325501 [NCBI36]
Chr4:4q13.2-13.3
likely pathogenic
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3 copy number gain See cases [RCV000138312] Chr4:72262258..86002147 [GRCh38]
Chr4:73127975..86923300 [GRCh37]
Chr4:73346839..87142324 [NCBI36]
Chr4:4q13.3-21.3
pathogenic
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3 copy number gain See cases [RCV000143458] Chr4:68686088..95294456 [GRCh38]
Chr4:69551806..96215607 [GRCh37]
Chr4:69234401..96434630 [NCBI36]
Chr4:4q13.2-22.3
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q13.3(chr4:74846849-74964907)x3 copy number gain See cases [RCV000448541] Chr4:74846849..74964907 [GRCh37]
Chr4:4q13.3
likely benign
GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1 copy number loss See cases [RCV000510445] Chr4:66017575..76772947 [GRCh37]
Chr4:4q13.1-21.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_002704.3(PPBP):c.71T>G (p.Leu24Arg) single nucleotide variant not specified [RCV004292932] Chr4:73988033 [GRCh38]
Chr4:74853750 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q13.3(chr4:73952783-75261407)x3 copy number gain not provided [RCV000682420] Chr4:73952783..75261407 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4q13.3(chr4:74774372-75110540)x3 copy number gain not provided [RCV000743704] Chr4:74774372..75110540 [GRCh37]
Chr4:4q13.3
benign
GRCh37/hg19 4q13.3(chr4:74785503-74987870)x3 copy number gain not provided [RCV000743705] Chr4:74785503..74987870 [GRCh37]
Chr4:4q13.3
benign
GRCh37/hg19 4q13.3(chr4:74811802-75110540)x3 copy number gain not provided [RCV000743706] Chr4:74811802..75110540 [GRCh37]
Chr4:4q13.3
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q13.2-21.21(chr4:68950363-79738598)x1 copy number loss not provided [RCV001005553] Chr4:68950363..79738598 [GRCh37]
Chr4:4q13.2-21.21
pathogenic
GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)x3 copy number gain not provided [RCV000845944] Chr4:68242784..82991431 [GRCh37]
Chr4:4q13.2-21.22
pathogenic
GRCh37/hg19 4q13.3-21.1(chr4:71561780-78304341)x1 copy number loss not provided [RCV000846231] Chr4:71561780..78304341 [GRCh37]
Chr4:4q13.3-21.1
pathogenic
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1 copy number loss not provided [RCV001005556] Chr4:72680879..86426232 [GRCh37]
Chr4:4q13.3-21.23
pathogenic
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1 copy number loss See cases [RCV001263040] Chr4:71412409..87920784 [GRCh37]
Chr4:4q13.3-21.3
pathogenic
GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1 copy number loss Piebaldism [RCV001420508] Chr4:51891814..76009719 [GRCh38]
Chr4:4q12-21.1
pathogenic
NC_000004.12:g.67833055_82716065del deletion See cases [RCV003313802] Chr4:67833055..82716065 [GRCh38]
Chr4:4q13.2-21.22
pathogenic
GRCh37/hg19 4q13.3-21.21(chr4:73055313-80083154) copy number loss not specified [RCV002053427] Chr4:73055313..80083154 [GRCh37]
Chr4:4q13.3-21.21
pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 copy number gain not provided [RCV001827738] Chr4:52866944..143582507 [GRCh37]
Chr4:4q12-31.21
pathogenic
NM_002704.3(PPBP):c.325G>A (p.Asp109Asn) single nucleotide variant not specified [RCV004153684] Chr4:73987334 [GRCh38]
Chr4:74853051 [GRCh37]
Chr4:4q13.3
uncertain significance
NM_002704.3(PPBP):c.184C>T (p.Arg62Cys) single nucleotide variant not specified [RCV004338953] Chr4:73987617 [GRCh38]
Chr4:74853334 [GRCh37]
Chr4:4q13.3
uncertain significance
GRCh37/hg19 4q13.2-13.3(chr4:69146217-75500577)x1 copy number loss not provided [RCV003485422] Chr4:69146217..75500577 [GRCh37]
Chr4:4q13.2-13.3
pathogenic
GRCh37/hg19 4q13.3-21.21(chr4:74822261-79345650)x1 copy number loss not specified [RCV003986507] Chr4:74822261..79345650 [GRCh37]
Chr4:4q13.3-21.21
uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2
pathogenic
NM_002704.3(PPBP):c.343A>G (p.Lys115Glu) single nucleotide variant not specified [RCV004506892] Chr4:73987316 [GRCh38]
Chr4:74853033 [GRCh37]
Chr4:4q13.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:88
Count of miRNA genes:85
Interacting mature miRNAs:85
Transcripts:ENST00000296028
Prediction methods:Miranda, Rnahybrid
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
SHGC4-129  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37474,853,683 - 74,853,847UniSTSGRCh37
Build 36475,072,547 - 75,072,711RGDNCBI36
Celera472,213,832 - 72,213,996RGD
Cytogenetic Map4q12-q13UniSTS
HuRef470,664,614 - 70,664,778UniSTS
Stanford-G3 RH Map44148.0UniSTS
NCBI RH Map4867.3UniSTS
GeneMap99-G3 RH Map44132.0UniSTS
SHGC-12412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37474,852,769 - 74,852,979UniSTSGRCh37
Build 36475,071,633 - 75,071,843RGDNCBI36
Celera472,212,918 - 72,213,128RGD
Cytogenetic Map4q12-q13UniSTS
HuRef470,663,700 - 70,663,910UniSTS
TNG Radiation Hybrid Map442367.0UniSTS
SHGC-50812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37474,852,993 - 74,853,738UniSTSGRCh37
Celera472,213,142 - 72,213,887UniSTS
Cytogenetic Map4q12-q13UniSTS
HuRef470,663,924 - 70,664,669UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 2 4 5
Medium 25 771 43 20 1011 19 16 7 17 23 30 429 2 1 15 9 2
Low 310 665 804 306 124 246 850 344 468 164 248 689 69 712 413 1
Below cutoff 1026 1086 609 214 148 131 1943 1167 1825 152 589 272 86 391 1342

Sequence


RefSeq Acc Id: ENST00000296028   ⟹   ENSP00000296028
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl473,986,439 - 73,988,190 (-)Ensembl
RefSeq Acc Id: NM_002704   ⟹   NP_002695
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38473,986,439 - 73,988,190 (-)NCBI
GRCh37474,852,156 - 74,853,907 (-)ENTREZGENE
Build 36475,071,619 - 75,072,764 (-)NCBI Archive
HuRef470,663,087 - 70,664,838 (-)ENTREZGENE
CHM1_1474,888,045 - 74,889,796 (-)NCBI
T2T-CHM13v2.0477,330,080 - 77,331,831 (-)NCBI
Sequence:
RefSeq Acc Id: NP_002695   ⟸   NM_002704
- Peptide Label: preproprotein
- UniProtKB: B2R5F3 (UniProtKB/Swiss-Prot),   Q6IBJ8 (UniProtKB/Swiss-Prot),   P02775 (UniProtKB/Swiss-Prot),   D3JV41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000296028   ⟸   ENST00000296028
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P02775-F1-model_v2 AlphaFold P02775 1-128 view protein structure

Promoters
RGD ID:6867714
Promoter ID:EPDNEW_H7022
Type:initiation region
Name:PPBP_1
Description:pro-platelet basic protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38473,988,190 - 73,988,250EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9240 AgrOrtholog
COSMIC PPBP COSMIC
Ensembl Genes ENSG00000163736 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000296028 ENTREZGENE
  ENST00000296028.4 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.50.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163736 GTEx
HGNC ID HGNC:9240 ENTREZGENE
Human Proteome Map PPBP Human Proteome Map
InterPro Chemokine_b/g/d UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Chemokine_CXC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Chemokine_CXC_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Chemokine_IL8-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CXC_Chemokine_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Interleukin_8-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5473 UniProtKB/Swiss-Prot
NCBI Gene 5473 ENTREZGENE
OMIM 121010 OMIM
PANTHER PLATELET BASIC PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMALL INDUCIBLE CYTOKINE A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam IL8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33561 PharmGKB
PRINTS INTERLEUKIN8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMALLCYTKCXC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SMALL_CYTOKINES_CXC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SCY UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Interleukin 8-like chemokines UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt B2R5F3 ENTREZGENE
  CXCL7_HUMAN UniProtKB/Swiss-Prot
  D3JV41 ENTREZGENE, UniProtKB/TrEMBL
  P02775 ENTREZGENE
  Q6IBJ8 ENTREZGENE
UniProt Secondary B2R5F3 UniProtKB/Swiss-Prot
  Q6IBJ8 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-17 PPBP  pro-platelet basic protein    pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)  Symbol and/or name change 5135510 APPROVED