PDGFA (platelet derived growth factor subunit A) - Rat Genome Database

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Gene: PDGFA (platelet derived growth factor subunit A) Homo sapiens
Analyze
Symbol: PDGFA
Name: platelet derived growth factor subunit A
RGD ID: 736070
HGNC Page HGNC
Description: Enables several functions, including platelet-derived growth factor binding activity; protein dimerization activity; and signaling receptor binding activity. Involved in several processes, including positive regulation of intracellular signal transduction; regulation of cell migration; and regulation of phosphate metabolic process. Acts upstream of or within positive regulation of cell population proliferation. Located in cell surface and extracellular space. Implicated in high grade glioma. Biomarker of Leydig cell tumor; breast cancer; leiomyoma; and prostate adenocarcinoma.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: PDGF A-chain; PDGF subunit A; PDGF-1; PDGF-A; PDGF1; platelet-derived growth factor A chain; platelet-derived growth factor A-chain; platelet-derived growth factor alpha chain; platelet-derived growth factor alpha isoform 2 preproprotein; platelet-derived growth factor alpha polypeptide; platelet-derived growth factor subunit A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl7497,258 - 520,296 (-)EnsemblGRCh38hg38GRCh38
GRCh387497,245 - 520,668 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh377536,895 - 559,483 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367503,421 - 526,007 (-)NCBINCBI36hg18NCBI36
Celera7505,832 - 559,337 (-)NCBI
Cytogenetic Map7p22.3NCBI
HuRef7455,023 - 477,393 (-)NCBIHuRef
CHM1_17535,640 - 589,379 (-)NCBICHM1_1
CRA_TCAGchr7v27598,080 - 651,496 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1-naphthyl isothiocyanate  (ISO)
11-deoxycorticosterone  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-aza-2'-deoxycytidine  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP,ISO)
aluminium oxide  (EXP)
ammonium chloride  (ISO)
amosite asbestos  (ISO)
amphibole asbestos  (ISO)
aristolochic acid  (EXP)
arsenous acid  (EXP)
azathioprine  (EXP)
belinostat  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-D-glucosamine  (ISO)
beta-naphthoflavone  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (ISO)
bisphenol F  (EXP)
bleomycin A5  (EXP)
bucladesine  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cadmium sulfate  (ISO)
capsaicin  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
celecoxib  (EXP,ISO)
chlorpyrifos  (EXP)
choline  (ISO)
cisplatin  (EXP)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
CU-O LINKAGE  (EXP)
cyanidin cation  (EXP)
cyclosporin A  (EXP)
cypermethrin  (ISO)
delphinidin  (EXP)
desferrioxamine B  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
diazinon  (EXP)
diazoxon  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (ISO)
dieldrin  (ISO)
diethylstilbestrol  (ISO)
dioxygen  (EXP)
disodium selenite  (EXP)
divanadium pentaoxide  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
entinostat  (EXP)
estriol  (EXP)
estrone  (EXP)
estrone 3-sulfate  (EXP)
ethanol  (ISO)
fenhexamid  (EXP)
flavonoids  (ISO)
folic acid  (EXP,ISO)
fulvestrant  (EXP)
fumonisin B1  (ISO)
furan  (ISO)
gadolinium trichloride  (ISO)
geldanamycin  (EXP)
genistein  (ISO)
glyphosate  (EXP)
gossypol  (EXP)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP,ISO)
ibuprofen  (EXP)
indole-3-methanol  (ISO)
indometacin  (EXP)
iron atom  (ISO)
iron(0)  (ISO)
L-methionine  (ISO)
leflunomide  (EXP)
Licochalcone B  (EXP)
lipopolysaccharide  (EXP)
losartan  (ISO)
malvidin  (EXP)
medroxyprogesterone acetate  (EXP)
methotrexate  (EXP)
methoxychlor  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
naproxen  (ISO)
nebivolol  (EXP)
nickel sulfate  (EXP)
nicotine  (ISO)
nitrofen  (ISO)
NS-398  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraoxon  (EXP)
paraquat  (ISO)
parathion  (EXP)
peonidin  (EXP)
peonidin chloride  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctanoic acid  (ISO)
phenobarbital  (ISO)
phenytoin  (EXP)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (EXP)
potassium chromate  (EXP)
potassium dichromate  (ISO)
progesterone  (EXP)
prostaglandin E2  (EXP)
prostaglandin I2  (EXP)
ramipril  (EXP)
reactive oxygen species  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
serpentine asbestos  (ISO)
simvastatin  (ISO)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
Sodium oleate  (EXP)
sulindac  (ISO)
sumatriptan  (ISO)
sunitinib  (EXP)
tamibarotene  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (ISO)
urethane  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin cytoskeleton organization  (ISO,ISS)
angiogenesis  (ISO,ISS)
animal organ morphogenesis  (ISO,ISS)
bone development  (ISO)
cell activation  (TAS)
cell projection assembly  (ISO,ISS)
cell-cell signaling  (TAS)
cellular response to transforming growth factor beta stimulus  (ISO)
digestive tract development  (ISO)
embryonic lung development  (ISS)
hair follicle development  (ISO,ISS)
inner ear development  (ISO)
lung alveolus development  (ISO,ISS)
male gonad development  (ISO)
negative chemotaxis  (IDA)
negative regulation of phosphatidylinositol biosynthetic process  (IDA)
negative regulation of platelet activation  (IDA)
platelet-derived growth factor receptor signaling pathway  (IBA,IDA)
positive regulation of cell division  (IEA)
positive regulation of cell migration  (IBA,IDA)
positive regulation of cell population proliferation  (IBA,IDA,ISO)
positive regulation of ERK1 and ERK2 cascade  (IBA,IDA)
positive regulation of fibroblast proliferation  (IDA)
positive regulation of MAP kinase activity  (IBA,IDA)
positive regulation of MAPK cascade  (IMP)
positive regulation of mesenchymal cell proliferation  (ISO,ISS)
positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway  (IDA)
positive regulation of phosphatidylinositol 3-kinase signaling  (IBA,IDA)
positive regulation of protein autophosphorylation  (IBA,IDA)
positive regulation of protein kinase B signaling  (IDA)
regulation of actin cytoskeleton organization  (TAS)
regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling  (ISO,ISS)
regulation of DNA biosynthetic process  (IDA)
regulation of glomerular mesangial cell proliferation  (IDA)
regulation of peptidyl-tyrosine phosphorylation  (ISO,ISS)
regulation of smooth muscle cell migration  (IDA)
response to estradiol  (ISO)
response to hypoxia  (ISO)
response to inorganic substance  (ISO)
response to organic substance  (ISO)
response to retinoic acid  (ISO)
response to wounding  (IDA)
response to xenobiotic stimulus  (ISO)
signal transduction  (IEA)
skin development  (ISO,ISS)
wound healing  (ISO,TAS)

Cellular Component

References

References - curated
1. Anan K, etal., Surgery. 1996 Mar;119(3):333-9.
2. Basciani S, etal., J Clin Endocrinol Metab. 2002 May;87(5):2310-9.
3. Cao WH, etal., Zhonghua Shao Shang Za Zhi. 2005 Oct;21(5):359-62.
4. Chen CM, etal., Neonatology. 2007;92(3):187-93. Epub 2007 May 21.
5. Cook JL, etal., Brain Res Mol Brain Res. 1998 Mar 30;55(1):9-19.
6. Dembinski A, etal., J Physiol Pharmacol. 2006 Mar;57(1):39-58.
7. Fudge K, etal., Mod Pathol. 1994 Jun;7(5):549-54.
8. GOA_HUMAN data from the GO Consortium
9. Heinig J, etal., Zentralbl Gynakol. 2000;122(8):413-8.
10. Katayose D, etal., Am J Physiol. 1993 Feb;264(2 Pt 1):L100-6.
11. Langham RG, etal., Nephrol Dial Transplant. 2003 Jul;18(7):1392-6.
12. Liang M, etal., Cancer Biol Ther. 2006 Jan;5(1):28-33. Epub 2006 Jan 12.
13. Liapis H, etal., Nephron. 1997;76(2):161-70.
14. Nazarenko I, etal., PLoS One. 2011 Apr 7;6(4):e18303. doi: 10.1371/journal.pone.0018303.
15. Pang H, etal., Clin Exp Pharmacol Physiol. 2007 May-Jun;34(5-6):393-8.
16. Pipeline to import KEGG annotations from KEGG into RGD
17. Pipeline to import Pathway Interaction Database annotations from NCI into RGD
18. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
19. RGD automated import pipeline for gene-chemical interactions
20. Savikko J, etal., Transplantation. 2002 Feb 27;73(4):506-11.
21. Wagner W and Wehrmann M, J Cell Mol Med. 2007 Nov-Dec;11(6):1342-51.
Additional References at PubMed
PMID:287022   PMID:291037   PMID:612586   PMID:1281549   PMID:1311092   PMID:1317862   PMID:1360804   PMID:1505216   PMID:1512241   PMID:1612586   PMID:1848007   PMID:1997274  
PMID:2315311   PMID:2439522   PMID:2536956   PMID:2538439   PMID:2544881   PMID:2832727   PMID:2836953   PMID:2842868   PMID:3422746   PMID:3614363   PMID:3614364   PMID:3666150  
PMID:3754619   PMID:7073684   PMID:7679113   PMID:8443409   PMID:8486521   PMID:8647855   PMID:8780057   PMID:8900172   PMID:9409235   PMID:9692901   PMID:9739761   PMID:9837894  
PMID:10358027   PMID:10508235   PMID:10598812   PMID:10681572   PMID:10806482   PMID:11678848   PMID:11788434   PMID:12070119   PMID:12411321   PMID:12477932   PMID:12576295   PMID:12615918  
PMID:12645527   PMID:12670444   PMID:12670890   PMID:12850832   PMID:12972619   PMID:14573617   PMID:14633628   PMID:14705808   PMID:14708943   PMID:14997209   PMID:15631865   PMID:15767546  
PMID:15829977   PMID:15857508   PMID:15890262   PMID:16344560   PMID:16462734   PMID:16760468   PMID:16850112   PMID:17087110   PMID:17470632   PMID:17578349   PMID:17852407   PMID:17933214  
PMID:17944929   PMID:17958740   PMID:17984069   PMID:18084257   PMID:18174235   PMID:18284546   PMID:18326546   PMID:18332228   PMID:18592007   PMID:18808740   PMID:18814141   PMID:18992915  
PMID:19019919   PMID:19141566   PMID:19493486   PMID:19559929   PMID:19707201   PMID:19956642   PMID:20036812   PMID:20036815   PMID:20083221   PMID:20202860   PMID:20220555   PMID:20224347  
PMID:20485444   PMID:20534510   PMID:20730440   PMID:20822908   PMID:21187969   PMID:21559523   PMID:21645144   PMID:21769672   PMID:21771201   PMID:21873635   PMID:21906875   PMID:21919032  
PMID:21931722   PMID:21993555   PMID:22174424   PMID:22266848   PMID:22393407   PMID:22588000   PMID:22617683   PMID:22704695   PMID:22733151   PMID:22949635   PMID:22964636   PMID:23025904  
PMID:23536282   PMID:23620752   PMID:23944365   PMID:24063997   PMID:24378341   PMID:24454980   PMID:24480986   PMID:24703957   PMID:24995287   PMID:25085844   PMID:25092176   PMID:25117714  
PMID:25140996   PMID:25241761   PMID:25379550   PMID:25429785   PMID:25686533   PMID:25767870   PMID:25832656   PMID:25869208   PMID:26088859   PMID:26420039   PMID:26535645   PMID:26708839  
PMID:26769046   PMID:26841646   PMID:27002148   PMID:27010479   PMID:27044757   PMID:27110716   PMID:27521890   PMID:27576135   PMID:27588483   PMID:27666726   PMID:27783304   PMID:27931212  
PMID:27941651   PMID:28000902   PMID:28267575   PMID:28275303   PMID:28323386   PMID:28828208   PMID:28986588   PMID:29615496   PMID:29728363   PMID:30340644   PMID:30890563   PMID:30924403  
PMID:30929921   PMID:31129275   PMID:31149049   PMID:31300060   PMID:31482267   PMID:31964549   PMID:32296183   PMID:32513696   PMID:32662506   PMID:32711436   PMID:33760132   PMID:34011067  


Genomics

Comparative Map Data
PDGFA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl7497,258 - 520,296 (-)EnsemblGRCh38hg38GRCh38
GRCh387497,245 - 520,668 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh377536,895 - 559,483 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367503,421 - 526,007 (-)NCBINCBI36hg18NCBI36
Celera7505,832 - 559,337 (-)NCBI
Cytogenetic Map7p22.3NCBI
HuRef7455,023 - 477,393 (-)NCBIHuRef
CHM1_17535,640 - 589,379 (-)NCBICHM1_1
CRA_TCAGchr7v27598,080 - 651,496 (-)NCBI
Pdgfa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395138,961,769 - 138,986,336 (-)NCBIGRCm39mm39
GRCm39 Ensembl5138,961,769 - 138,983,125 (-)Ensembl
GRCm385138,976,014 - 139,000,792 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5138,976,014 - 138,997,370 (-)EnsemblGRCm38mm10GRCm38
MGSCv375139,452,925 - 139,470,907 (-)NCBIGRCm37mm9NCBIm37
MGSCv365139,230,613 - 139,248,595 (-)NCBImm8
Celera5136,032,139 - 136,049,986 (-)NCBICelera
Cytogenetic Map5G2NCBI
cM Map577.65NCBI
Pdgfa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21215,645,549 - 15,667,056 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1215,645,541 - 15,666,497 (+)Ensembl
Rnor_6.01217,734,141 - 17,756,186 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1217,734,133 - 17,755,285 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01219,727,672 - 19,749,009 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41216,151,045 - 16,172,412 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11216,180,972 - 16,202,334 (+)NCBI
Celera1217,398,134 - 17,419,591 (+)NCBICelera
Cytogenetic Map12q11NCBI
Pdgfa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554608,326,891 - 8,346,550 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554608,328,400 - 8,346,755 (-)NCBIChiLan1.0ChiLan1.0
PDGFA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.17872,204 - 888,870 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v07648,722 - 672,023 (-)NCBIMhudiblu_PPA_v0panPan3
PDGFA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1616,271,082 - 16,293,246 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl616,270,104 - 16,292,396 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha617,743,941 - 17,762,483 (+)NCBI
ROS_Cfam_1.0616,400,056 - 16,421,423 (+)NCBI
UMICH_Zoey_3.1616,204,088 - 16,222,628 (+)NCBI
UNSW_CanFamBas_1.0616,130,433 - 16,148,998 (+)NCBI
UU_Cfam_GSD_1.0616,420,378 - 16,438,910 (+)NCBI
Pdgfa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344144,181,428 - 144,201,439 (+)NCBI
SpeTri2.0NW_004936754808,894 - 828,554 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PDGFA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl3303,311 - 323,036 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.13296,399 - 322,967 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.23152,233 - 170,626 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PDGFA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12821,044,549 - 21,068,411 (+)NCBI
ChlSab1.1 Ensembl2821,047,219 - 21,069,827 (+)Ensembl
Vero_WHO_p1.0NW_023666090605,283 - 628,542 (-)NCBI
Pdgfa
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462474026,172,808 - 26,191,557 (-)NCBI

Position Markers
D7S2563  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377542,374 - 542,476UniSTSGRCh37
Build 367508,900 - 509,002RGDNCBI36
Celera7511,320 - 511,426RGD
Cytogenetic Map7p22UniSTS
HuRef7460,511 - 460,617UniSTS
CRA_TCAGchr7v27603,564 - 603,666UniSTS
Marshfield Genetic Map72.47RGD
Marshfield Genetic Map72.47UniSTS
Genethon Genetic Map71.7UniSTS
deCODE Assembly Map72.5UniSTS
Stanford-G3 RH Map717.0UniSTS
NCBI RH Map716.0UniSTS
GeneMap99-G3 RH Map717.0UniSTS
PRKAR1B  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377590,075 - 590,182UniSTSGRCh37
GRCh377588,855 - 588,920UniSTSGRCh37
Build 367555,381 - 555,446RGDNCBI36
Celera7558,411 - 558,476RGD
Celera7559,626 - 559,733UniSTS
Cytogenetic Map7p22UniSTS
HuRef7507,421 - 507,486UniSTS
HuRef7508,641 - 508,748UniSTS
CRA_TCAGchr7v27650,570 - 650,635UniSTS
CRA_TCAGchr7v27651,785 - 651,892UniSTS
G62094  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377589,732 - 589,878UniSTSGRCh37
Build 367556,258 - 556,404RGDNCBI36
Celera7559,283 - 559,429RGD
Cytogenetic Map7p22UniSTS
HuRef7508,298 - 508,444UniSTS
CRA_TCAGchr7v27651,442 - 651,588UniSTS
D7S540E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377589,844 - 589,934UniSTSGRCh37
Build 367556,370 - 556,460RGDNCBI36
Celera7559,395 - 559,485RGD
Cytogenetic Map7p22UniSTS
HuRef7508,410 - 508,500UniSTS
CRA_TCAGchr7v27651,554 - 651,644UniSTS
PDGFA  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377549,753 - 550,010UniSTSGRCh37
Build 367516,279 - 516,536RGDNCBI36
Celera7518,676 - 518,933RGD
Cytogenetic Map7p22UniSTS
HuRef7467,894 - 468,151UniSTS
CRA_TCAGchr7v27610,944 - 611,201UniSTS
SHGC-130833  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377588,866 - 589,213UniSTSGRCh37
Build 367555,392 - 555,739RGDNCBI36
Celera7558,422 - 558,769RGD
Cytogenetic Map7p22UniSTS
HuRef7507,432 - 507,779UniSTS
CRA_TCAGchr7v27650,581 - 650,928UniSTS
PRKAR1B__7235  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377589,279 - 590,097UniSTSGRCh37
Build 367555,805 - 556,623RGDNCBI36
Celera7558,835 - 559,648RGD
HuRef7507,845 - 508,663UniSTS
CRA_TCAGchr7v27650,994 - 651,807UniSTS
G10519  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377537,855 - 538,071UniSTSGRCh37
Build 367504,381 - 504,597RGDNCBI36
Celera7506,792 - 507,008RGD
Cytogenetic Map7p22UniSTS
HuRef7455,983 - 456,199UniSTS
CRA_TCAGchr7v27599,037 - 599,253UniSTS
D7S2747  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377537,808 - 538,148UniSTSGRCh37
Build 367504,334 - 504,674RGDNCBI36
Celera7506,745 - 507,085RGD
Cytogenetic Map7p22UniSTS
HuRef7455,936 - 456,276UniSTS
CRA_TCAGchr7v27598,990 - 599,330UniSTS
Stanford-G3 RH Map742.0UniSTS
NCBI RH Map726.4UniSTS
GeneMap99-G3 RH Map742.0UniSTS
SGC35032  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377563,405 - 563,531UniSTSGRCh37
Build 367529,931 - 530,057RGDNCBI36
Celera7532,703 - 532,829RGD
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map7p22UniSTS
HuRef7481,886 - 482,012UniSTS
CRA_TCAGchr7v27624,925 - 625,051UniSTS
GeneMap99-GB4 RH Map712.59UniSTS
Whitehead-RH Map715.4UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIRLET7Dhsa-let-7d-5pMirtarbaseexternal_infoELISA//Immunoblot//Microarray//qRT-PCRFunctional MTI (Weak)21266476

Predicted Target Of
Summary Value
Count of predictions:1871
Count of miRNA genes:864
Interacting mature miRNAs:1045
Transcripts:ENST00000354513, ENST00000400761, ENST00000402802, ENST00000405692, ENST00000426681, ENST00000482462
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2330 1782 1054 248 583 117 3730 1492 3078 298 884 1381 140 1062 2402 3
Low 99 684 669 374 712 347 615 689 632 121 571 206 34 1 142 386 1 1
Below cutoff 8 519 2 2 590 1 9 12 17 4 17 1 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029727 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001395363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001395364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001395365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001395366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_033023 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_172526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_172527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011515419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017012289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide A09204 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  A37535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  A37560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  A41773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB451439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC147651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF085245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF417590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002928 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ238420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU118732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC109246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE336646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ001096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ002008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236966 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ858324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS172381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS172825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS367416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HC040701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M59423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M83575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S62078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X03795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X06374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354513   ⟹   ENSP00000346508
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7498,309 - 519,394 (-)Ensembl
RefSeq Acc Id: ENST00000400761   ⟹   ENSP00000383572
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7498,493 - 518,508 (-)Ensembl
RefSeq Acc Id: ENST00000402802   ⟹   ENSP00000383889
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7497,258 - 519,409 (-)Ensembl
RefSeq Acc Id: ENST00000405692   ⟹   ENSP00000384673
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7512,357 - 520,296 (-)Ensembl
RefSeq Acc Id: ENST00000426681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7512,445 - 520,208 (-)Ensembl
RefSeq Acc Id: ENST00000482462
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl7500,778 - 513,467 (-)Ensembl
RefSeq Acc Id: NM_002607   ⟹   NP_002598
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387497,258 - 519,846 (-)NCBI
GRCh377536,895 - 559,481 (-)ENTREZGENE
Build 367503,421 - 526,007 (-)NCBI Archive
HuRef7455,023 - 477,393 (-)ENTREZGENE
CHM1_17535,640 - 589,379 (-)NCBI
CRA_TCAGchr7v27598,080 - 651,496 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_033023   ⟹   NP_148983
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387497,258 - 519,846 (-)NCBI
GRCh377536,895 - 559,481 (-)ENTREZGENE
GRCh377536,895 - 559,481 (-)NCBI
Build 367503,421 - 526,007 (-)NCBI Archive
HuRef7455,023 - 477,393 (-)ENTREZGENE
CHM1_17535,640 - 589,379 (-)NCBI
CRA_TCAGchr7v27598,080 - 651,496 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: XM_011515415   ⟹   XP_011513717
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387497,258 - 520,668 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515416   ⟹   XP_011513718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387497,258 - 520,668 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515417   ⟹   XP_011513719
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387497,258 - 520,668 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515418   ⟹   XP_011513720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387497,258 - 520,668 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011515419   ⟹   XP_011513721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387497,245 - 517,905 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017012289   ⟹   XP_016867778
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387497,245 - 518,341 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001382292 (Get FASTA)   NCBI Sequence Viewer  
  NP_001382293 (Get FASTA)   NCBI Sequence Viewer  
  NP_001382294 (Get FASTA)   NCBI Sequence Viewer  
  NP_001382295 (Get FASTA)   NCBI Sequence Viewer  
  NP_002598 (Get FASTA)   NCBI Sequence Viewer  
  NP_148983 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513717 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513718 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513719 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513720 (Get FASTA)   NCBI Sequence Viewer  
  XP_011513721 (Get FASTA)   NCBI Sequence Viewer  
  XP_016867778 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA60045 (Get FASTA)   NCBI Sequence Viewer  
  AAA60046 (Get FASTA)   NCBI Sequence Viewer  
  AAA60047 (Get FASTA)   NCBI Sequence Viewer  
  AAB26566 (Get FASTA)   NCBI Sequence Viewer  
  AAD13863 (Get FASTA)   NCBI Sequence Viewer  
  AAD13864 (Get FASTA)   NCBI Sequence Viewer  
  AAI09247 (Get FASTA)   NCBI Sequence Viewer  
  AAK29998 (Get FASTA)   NCBI Sequence Viewer  
  AAN76486 (Get FASTA)   NCBI Sequence Viewer  
  BAF84906 (Get FASTA)   NCBI Sequence Viewer  
  BAG70123 (Get FASTA)   NCBI Sequence Viewer  
  BAG70253 (Get FASTA)   NCBI Sequence Viewer  
  CAA00830 (Get FASTA)   NCBI Sequence Viewer  
  CAA02288 (Get FASTA)   NCBI Sequence Viewer  
  CAA02293 (Get FASTA)   NCBI Sequence Viewer  
  CAA02624 (Get FASTA)   NCBI Sequence Viewer  
  CAA27421 (Get FASTA)   NCBI Sequence Viewer  
  CAA29677 (Get FASTA)   NCBI Sequence Viewer  
  CAB59509 (Get FASTA)   NCBI Sequence Viewer  
  CAH23423 (Get FASTA)   NCBI Sequence Viewer  
  CAJ32894 (Get FASTA)   NCBI Sequence Viewer  
  CAJ32906 (Get FASTA)   NCBI Sequence Viewer  
  CAL32765 (Get FASTA)   NCBI Sequence Viewer  
  CBH30541 (Get FASTA)   NCBI Sequence Viewer  
  EAW87160 (Get FASTA)   NCBI Sequence Viewer  
  EAW87161 (Get FASTA)   NCBI Sequence Viewer  
  EAW87162 (Get FASTA)   NCBI Sequence Viewer  
  P04085 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_148983   ⟸   NM_033023
- Peptide Label: isoform 2 preproprotein
- UniProtKB: P04085 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002598   ⟸   NM_002607
- Peptide Label: isoform 1 preproprotein
- UniProtKB: P04085 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011513719   ⟸   XM_011515417
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011513717   ⟸   XM_011515415
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011513720   ⟸   XM_011515418
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011513718   ⟸   XM_011515416
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011513721   ⟸   XM_011515419
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_016867778   ⟸   XM_017012289
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: ENSP00000383572   ⟸   ENST00000400761
RefSeq Acc Id: ENSP00000383889   ⟸   ENST00000402802
RefSeq Acc Id: ENSP00000384673   ⟸   ENST00000405692
RefSeq Acc Id: ENSP00000346508   ⟸   ENST00000354513
Protein Domains
PDGF_2   PDGF_N

Promoters
RGD ID:7209723
Promoter ID:EPDNEW_H10607
Type:initiation region
Name:PDGFA_1
Description:platelet derived growth factor subunit A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10608  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387519,218 - 519,278EPDNEW
RGD ID:7209725
Promoter ID:EPDNEW_H10608
Type:initiation region
Name:PDGFA_2
Description:platelet derived growth factor subunit A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10607  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387519,505 - 519,565EPDNEW
RGD ID:6805198
Promoter ID:HG_KWN:55903
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000344323,   ENST00000402802,   ENST00000405692,   OTTHUMT00000322522,   OTTHUMT00000322536,   OTTHUMT00000322537,   UC003SIR.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367524,236 - 528,812 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p22.3(chr7:54185-1843584)x1 copy number loss See cases [RCV000052253] Chr7:54185..1843584 [GRCh38]
Chr7:54185..1883220 [GRCh37]
Chr7:149268..1849746 [NCBI36]
Chr7:7p22.3
pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 7p22.3(chr7:54185-1441125)x1 copy number loss See cases [RCV000052254] Chr7:54185..1441125 [GRCh38]
Chr7:54185..1480761 [GRCh37]
Chr7:149268..1447287 [NCBI36]
Chr7:7p22.3
pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1 copy number loss See cases [RCV000052249] Chr7:45130..5880375 [GRCh38]
Chr7:45130..5920006 [GRCh37]
Chr7:140213..5886532 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3 copy number gain See cases [RCV000053527] Chr7:45130..6270185 [GRCh38]
Chr7:45130..6309816 [GRCh37]
Chr7:140213..6276341 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:54185-8274834)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053529]|See cases [RCV000053529] Chr7:54185..8274834 [GRCh38]
Chr7:54185..8314464 [GRCh37]
Chr7:149268..8280989 [NCBI36]
Chr7:7p22.3-21.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
NM_002607.5(PDGFA):c.442C>T (p.Arg148Cys) single nucleotide variant Malignant melanoma [RCV000067908] Chr7:510820 [GRCh38]
Chr7:550457 [GRCh37]
Chr7:516983 [NCBI36]
Chr7:7p22.3
not provided
NM_002607.5(PDGFA):c.441C>T (p.His147=) single nucleotide variant Malignant melanoma [RCV000067909] Chr7:510821 [GRCh38]
Chr7:550458 [GRCh37]
Chr7:516984 [NCBI36]
Chr7:7p22.3
not provided
GRCh38/hg38 7p22.3(chr7:54185-1206119)x3 copy number gain See cases [RCV000134140] Chr7:54185..1206119 [GRCh38]
Chr7:54185..1245755 [GRCh37]
Chr7:149268..1212281 [NCBI36]
Chr7:7p22.3
uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p22.3-22.2(chr7:54185-3324143)x1 copy number loss See cases [RCV000136789] Chr7:54185..3324143 [GRCh38]
Chr7:54185..3363775 [GRCh37]
Chr7:149268..3330301 [NCBI36]
Chr7:7p22.3-22.2
pathogenic
GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3 copy number gain See cases [RCV000136731] Chr7:54185..6638027 [GRCh38]
Chr7:54185..6677658 [GRCh37]
Chr7:149268..6644183 [NCBI36]
Chr7:7p22.3-22.1
pathogenic
GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3 copy number gain See cases [RCV000137524] Chr7:45130..7252065 [GRCh38]
Chr7:45130..7291696 [GRCh37]
Chr7:140213..7258221 [NCBI36]
Chr7:7p22.3-21.3
pathogenic
GRCh38/hg38 7p22.3(chr7:54185-1331046)x1 copy number loss See cases [RCV000137163] Chr7:54185..1331046 [GRCh38]
Chr7:54185..1370682 [GRCh37]
Chr7:149268..1337208 [NCBI36]
Chr7:7p22.3
pathogenic|uncertain significance
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.3(chr7:54165-725325)x1 copy number loss See cases [RCV000138846] Chr7:54165..725325 [GRCh38]
Chr7:54165..764962 [GRCh37]
Chr7:149248..731488 [NCBI36]
Chr7:7p22.3
pathogenic
GRCh38/hg38 7p22.3(chr7:45130-821632)x1 copy number loss See cases [RCV000138365] Chr7:45130..821632 [GRCh38]
Chr7:45130..861269 [GRCh37]
Chr7:140213..827795 [NCBI36]
Chr7:7p22.3
uncertain significance
GRCh38/hg38 7p22.3-22.2(chr7:54165-3258775)x1 copy number loss See cases [RCV000142995] Chr7:54165..3258775 [GRCh38]
Chr7:54165..3298407 [GRCh37]
Chr7:149248..3264933 [NCBI36]
Chr7:7p22.3-22.2
pathogenic
GRCh38/hg38 7p22.3(chr7:45130-1298050)x1 copy number loss See cases [RCV000143341] Chr7:45130..1298050 [GRCh38]
Chr7:45130..1337686 [GRCh37]
Chr7:140213..1304212 [NCBI36]
Chr7:7p22.3
uncertain significance
GRCh38/hg38 7p22.3-22.2(chr7:45130-3406236)x3 copy number gain See cases [RCV000143175] Chr7:45130..3406236 [GRCh38]
Chr7:45130..3445868 [GRCh37]
Chr7:140213..3412394 [NCBI36]
Chr7:7p22.3-22.2
uncertain significance
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p22.3(chr7:54185-1843584)x1 copy number loss See cases [RCV000148193] Chr7:54185..1843584 [GRCh38]
Chr7:54185..1883220 [GRCh37]
Chr7:149268..1849746 [NCBI36]
Chr7:7p22.3
pathogenic
GRCh37/hg19 7p22.3-22.1(chr7:43360-5443709)x3 copy number gain See cases [RCV000449281] Chr7:43360..5443709 [GRCh37]
Chr7:7p22.3-22.1
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3 copy number gain See cases [RCV000449446] Chr7:183556..12746636 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:43360-2825753)x3 copy number gain See cases [RCV000447222] Chr7:43360..2825753 [GRCh37]
Chr7:7p22.3-22.2
likely pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-22.2(chr7:43360-3642604)x1 copy number loss See cases [RCV000511648] Chr7:43360..3642604 [GRCh37]
Chr7:7p22.3-22.2
pathogenic
GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3 copy number gain See cases [RCV000511772] Chr7:43360..14664158 [GRCh37]
Chr7:7p22.3-21.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3 copy number gain See cases [RCV000510950] Chr7:43360..12098696 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3 copy number gain See cases [RCV000512505] Chr7:43360..11567351 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3(chr7:43360-2057743)x1 copy number loss See cases [RCV000512381] Chr7:43360..2057743 [GRCh37]
Chr7:7p22.3
likely pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-21.3(chr7:10239-13116278)x3 copy number gain not provided [RCV000746277] Chr7:10239..13116278 [GRCh37]
Chr7:7p22.3-21.3
pathogenic
GRCh37/hg19 7p22.3(chr7:149765-679369)x3 copy number gain not provided [RCV000746282] Chr7:149765..679369 [GRCh37]
Chr7:7p22.3
benign
NM_002607.5(PDGFA):c.510G>A (p.Arg170=) single nucleotide variant not provided [RCV000967035] Chr7:501186 [GRCh38]
Chr7:540823 [GRCh37]
Chr7:7p22.3
benign
GRCh37/hg19 7p22.3(chr7:43360-1648288)x1 copy number loss not provided [RCV001005888] Chr7:43360..1648288 [GRCh37]
Chr7:7p22.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3(chr7:44935-1750797)x1 copy number loss See cases [RCV001007408] Chr7:44935..1750797 [GRCh37]
Chr7:7p22.3
pathogenic
NM_002607.5(PDGFA):c.125G>A (p.Arg42Gln) single nucleotide variant not provided [RCV000974225] Chr7:517429 [GRCh38]
Chr7:557066 [GRCh37]
Chr7:7p22.3
likely benign
GRCh37/hg19 7p22.3-22.2(chr7:36616-4298168)x1 copy number loss not provided [RCV000849273] Chr7:36616..4298168 [GRCh37]
Chr7:7p22.3-22.2
pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8799 AgrOrtholog
COSMIC PDGFA COSMIC
Ensembl Genes ENSG00000197461 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000346508 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000383572 UniProtKB/TrEMBL
  ENSP00000383889 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000384673 UniProtKB/TrEMBL
Ensembl Transcript ENST00000354513 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000400761 UniProtKB/TrEMBL
  ENST00000402802 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000405692 UniProtKB/TrEMBL
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000197461 GTEx
HGNC ID HGNC:8799 ENTREZGENE
Human Proteome Map PDGFA Human Proteome Map
InterPro Cystine-knot_cytokine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PD_growth_factor_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDGF/VEGF_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDGF_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5154 UniProtKB/Swiss-Prot
NCBI Gene 5154 ENTREZGENE
OMIM 173430 OMIM
Pfam PDGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDGF_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33144 PharmGKB
PROSITE PDGF_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDGF_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART PDGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF57501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R7Z9_HUMAN UniProtKB/TrEMBL
  A0A0A0MSC4_HUMAN UniProtKB/TrEMBL
  H7BYW6_HUMAN UniProtKB/TrEMBL
  P04085 ENTREZGENE, UniProtKB/Swiss-Prot
  Q32M96_HUMAN UniProtKB/TrEMBL
  Q9UGN0_HUMAN UniProtKB/TrEMBL
UniProt Secondary B5BU73 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 PDGFA  platelet derived growth factor subunit A  PDGFA  platelet-derived growth factor alpha polypeptide  Symbol and/or name change 5135510 APPROVED