Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5155
Gene name	Platelet derived growth factor subunit B
Gene symbol	PDGFB
Synonyms (NCBI Gene)	IBGC5PDGF-2PDGF2SISSSVc-sis
Chromosome	22
Chromosome location	22q13.1
Summary	This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor sub

Show/Hide all (7)

SNP ID	Visualize variation	Clinical significance	Consequence
rs397515631	G>A	Pathogenic	Stop gained, coding sequence variant
rs397515632	A>G	Pathogenic	Missense variant, coding sequence variant
rs397515633	G>A	Pathogenic	Stop gained, coding sequence variant
rs398122398	C>G	Pathogenic	Terminator codon variant, stop lost
rs398122399	C>T	Pathogenic	Initiator codon variant, missense variant, genic upstream transcript variant
rs1057520576	A>C	Pathogenic	Genic upstream transcript variant, initiator codon variant, missense variant
rs1601596820	C>G	Likely-pathogenic	Splice acceptor variant

193

Show/Hide all (193)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005548	hsa-miR-146b-3p	ELISAImmunoblotMicroarrayqRT-PCR	21266476
MIRT029444	hsa-miR-26b-5p	Microarray	19088304
MIRT053627	hsa-let-7f-5p	Microarray	22942087
MIRT438914	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCR	23354167
MIRT438914	hsa-miR-29b-3p	Luciferase reporter assayqRT-PCR	23354167
MIRT492785	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT492786	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT492784	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT492783	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT492782	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT492781	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT492780	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT492779	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT492778	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT492777	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT492776	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT492775	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT492774	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT492773	hsa-miR-3179	PAR-CLIP	23592263
MIRT492772	hsa-miR-4533	PAR-CLIP	23592263
MIRT492771	hsa-miR-3202	PAR-CLIP	23592263
MIRT492770	hsa-miR-3153	PAR-CLIP	23592263
MIRT492768	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT492769	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT492767	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT492766	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT492765	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT492764	hsa-miR-6079	PAR-CLIP	23592263
MIRT053627	hsa-let-7f-5p	PAR-CLIP	27292025
MIRT737152	hsa-miR-363-5p	PAR-CLIP	27292025
MIRT736680	hsa-miR-432-5p	Luciferase reporter assayWestern blottingqRT-PCR	33846539
MIRT737152	hsa-miR-363-5p	RNA-seqqRT-PCR	34058065
MIRT492785	hsa-miR-93-5p	PAR-CLIP	23592263
MIRT492786	hsa-miR-20a-5p	PAR-CLIP	23592263
MIRT492784	hsa-miR-20b-5p	PAR-CLIP	23592263
MIRT492783	hsa-miR-106b-5p	PAR-CLIP	23592263
MIRT492782	hsa-miR-17-5p	PAR-CLIP	23592263
MIRT492781	hsa-miR-106a-5p	PAR-CLIP	23592263
MIRT492780	hsa-miR-519d-3p	PAR-CLIP	23592263
MIRT492779	hsa-miR-526b-3p	PAR-CLIP	23592263
MIRT492778	hsa-miR-519a-3p	PAR-CLIP	23592263
MIRT492777	hsa-miR-519b-3p	PAR-CLIP	23592263
MIRT492776	hsa-miR-519c-3p	PAR-CLIP	23592263
MIRT492775	hsa-miR-4716-3p	PAR-CLIP	23592263
MIRT492774	hsa-miR-6794-5p	PAR-CLIP	23592263
MIRT492773	hsa-miR-3179	PAR-CLIP	23592263
MIRT492772	hsa-miR-4533	PAR-CLIP	23592263
MIRT492771	hsa-miR-3202	PAR-CLIP	23592263
MIRT492770	hsa-miR-3153	PAR-CLIP	23592263
MIRT492768	hsa-miR-6733-5p	PAR-CLIP	23592263
MIRT492769	hsa-miR-6739-5p	PAR-CLIP	23592263
MIRT492767	hsa-miR-4747-5p	PAR-CLIP	23592263
MIRT492766	hsa-miR-5196-5p	PAR-CLIP	23592263
MIRT492765	hsa-miR-625-5p	PAR-CLIP	23592263
MIRT492764	hsa-miR-6079	PAR-CLIP	23592263
MIRT1221160	hsa-miR-1915	CLIP-seq
MIRT1221161	hsa-miR-193a-5p	CLIP-seq
MIRT1221162	hsa-miR-2110	CLIP-seq
MIRT1221163	hsa-miR-3150a-3p	CLIP-seq
MIRT1221164	hsa-miR-4252	CLIP-seq
MIRT1221165	hsa-miR-4270	CLIP-seq
MIRT1221166	hsa-miR-4441	CLIP-seq
MIRT1221167	hsa-miR-4450	CLIP-seq
MIRT1221168	hsa-miR-4733-3p	CLIP-seq
MIRT1221169	hsa-miR-4786-3p	CLIP-seq
MIRT1221170	hsa-miR-635	CLIP-seq
MIRT1221171	hsa-let-7a	CLIP-seq
MIRT1221172	hsa-let-7b	CLIP-seq
MIRT1221173	hsa-let-7c	CLIP-seq
MIRT1221174	hsa-let-7d	CLIP-seq
MIRT1221175	hsa-let-7e	CLIP-seq
MIRT1221176	hsa-let-7f	CLIP-seq
MIRT1221177	hsa-let-7g	CLIP-seq
MIRT1221178	hsa-let-7i	CLIP-seq
MIRT1221179	hsa-miR-1287	CLIP-seq
MIRT1221180	hsa-miR-143	CLIP-seq
MIRT1221181	hsa-miR-1909	CLIP-seq
MIRT1221182	hsa-miR-2467-3p	CLIP-seq
MIRT1221183	hsa-miR-3135b	CLIP-seq
MIRT1221184	hsa-miR-3138	CLIP-seq
MIRT1221185	hsa-miR-3607-5p	CLIP-seq
MIRT1221186	hsa-miR-3685	CLIP-seq
MIRT1221187	hsa-miR-384	CLIP-seq
MIRT1221188	hsa-miR-3913-5p	CLIP-seq
MIRT1221189	hsa-miR-3914	CLIP-seq
MIRT1221190	hsa-miR-3927	CLIP-seq
MIRT1221191	hsa-miR-4266	CLIP-seq
MIRT1221192	hsa-miR-4436b-3p	CLIP-seq
MIRT1221193	hsa-miR-4468	CLIP-seq
MIRT1221194	hsa-miR-4487	CLIP-seq
MIRT1221195	hsa-miR-4491	CLIP-seq
MIRT1221196	hsa-miR-4519	CLIP-seq
MIRT1221197	hsa-miR-4520a-3p	CLIP-seq
MIRT1221198	hsa-miR-4657	CLIP-seq
MIRT1221199	hsa-miR-4668-5p	CLIP-seq
MIRT1221200	hsa-miR-4694-3p	CLIP-seq
MIRT1221201	hsa-miR-4695-5p	CLIP-seq
MIRT1221202	hsa-miR-4779	CLIP-seq
MIRT1221203	hsa-miR-4800-5p	CLIP-seq
MIRT1221204	hsa-miR-4802-5p	CLIP-seq
MIRT1221205	hsa-miR-488	CLIP-seq
MIRT1221206	hsa-miR-619	CLIP-seq
MIRT1221207	hsa-miR-765	CLIP-seq
MIRT1221208	hsa-miR-98	CLIP-seq
MIRT1552167	hsa-miR-1270	CLIP-seq
MIRT1552168	hsa-miR-150	CLIP-seq
MIRT1221160	hsa-miR-1915	CLIP-seq
MIRT1552169	hsa-miR-4287	CLIP-seq
MIRT1552170	hsa-miR-432	CLIP-seq
MIRT1552171	hsa-miR-4531	CLIP-seq
MIRT1552172	hsa-miR-4685-3p	CLIP-seq
MIRT1552173	hsa-miR-4713-5p	CLIP-seq
MIRT1552174	hsa-miR-4726-3p	CLIP-seq
MIRT1552175	hsa-miR-4780	CLIP-seq
MIRT1552176	hsa-miR-532-3p	CLIP-seq
MIRT1552177	hsa-miR-620	CLIP-seq
MIRT1552178	hsa-miR-623	CLIP-seq
MIRT1552179	hsa-miR-769-5p	CLIP-seq
MIRT2063814	hsa-miR-1275	CLIP-seq
MIRT1221181	hsa-miR-1909	CLIP-seq
MIRT2063815	hsa-miR-29a	CLIP-seq
MIRT2063816	hsa-miR-29b	CLIP-seq
MIRT2063817	hsa-miR-29c	CLIP-seq
MIRT2063818	hsa-miR-4269	CLIP-seq
MIRT2063819	hsa-miR-4271	CLIP-seq
MIRT2063820	hsa-miR-4447	CLIP-seq
MIRT2063821	hsa-miR-4472	CLIP-seq
MIRT2063822	hsa-miR-4514	CLIP-seq
MIRT2063823	hsa-miR-4525	CLIP-seq
MIRT2063824	hsa-miR-4651	CLIP-seq
MIRT2063825	hsa-miR-4665-5p	CLIP-seq
MIRT2063826	hsa-miR-4692	CLIP-seq
MIRT2063827	hsa-miR-4723-5p	CLIP-seq
MIRT2063828	hsa-miR-4725-3p	CLIP-seq
MIRT2063829	hsa-miR-4742-5p	CLIP-seq
MIRT2063830	hsa-miR-608	CLIP-seq
MIRT1552178	hsa-miR-623	CLIP-seq
MIRT2063831	hsa-miR-625	CLIP-seq
MIRT2063832	hsa-miR-764	CLIP-seq
MIRT2063833	hsa-miR-767-5p	CLIP-seq
MIRT2063834	hsa-miR-140-3p	CLIP-seq
MIRT2063835	hsa-miR-3145-5p	CLIP-seq
MIRT2063836	hsa-miR-338-5p	CLIP-seq
MIRT2063818	hsa-miR-4269	CLIP-seq
MIRT2063819	hsa-miR-4271	CLIP-seq
MIRT2063822	hsa-miR-4514	CLIP-seq
MIRT2063826	hsa-miR-4692	CLIP-seq
MIRT2063828	hsa-miR-4725-3p	CLIP-seq
MIRT2063829	hsa-miR-4742-5p	CLIP-seq
MIRT2063837	hsa-miR-656	CLIP-seq
MIRT2292305	hsa-miR-1207-5p	CLIP-seq
MIRT1221181	hsa-miR-1909	CLIP-seq
MIRT1221164	hsa-miR-4252	CLIP-seq
MIRT2063819	hsa-miR-4271	CLIP-seq
MIRT2292306	hsa-miR-4459	CLIP-seq
MIRT1221201	hsa-miR-4695-5p	CLIP-seq
MIRT2292307	hsa-miR-4722-5p	CLIP-seq
MIRT2063828	hsa-miR-4725-3p	CLIP-seq
MIRT2292308	hsa-miR-4736	CLIP-seq
MIRT2292309	hsa-miR-4763-3p	CLIP-seq
MIRT1221169	hsa-miR-4786-3p	CLIP-seq
MIRT1552178	hsa-miR-623	CLIP-seq
MIRT2063832	hsa-miR-764	CLIP-seq
MIRT2292310	hsa-miR-139-5p	CLIP-seq
MIRT2292311	hsa-miR-3120-3p	CLIP-seq
MIRT2063818	hsa-miR-4269	CLIP-seq
MIRT2063819	hsa-miR-4271	CLIP-seq
MIRT2063822	hsa-miR-4514	CLIP-seq
MIRT2063826	hsa-miR-4692	CLIP-seq
MIRT2063828	hsa-miR-4725-3p	CLIP-seq
MIRT2063829	hsa-miR-4742-5p	CLIP-seq
MIRT2292312	hsa-miR-545	CLIP-seq
MIRT2292313	hsa-miR-622	CLIP-seq
MIRT2590053	hsa-miR-19a	CLIP-seq
MIRT2590054	hsa-miR-19b	CLIP-seq
MIRT1221162	hsa-miR-2110	CLIP-seq
MIRT2063819	hsa-miR-4271	CLIP-seq
MIRT2590055	hsa-miR-4426	CLIP-seq
MIRT2590056	hsa-miR-4647	CLIP-seq
MIRT2590057	hsa-miR-4662b	CLIP-seq
MIRT2063828	hsa-miR-4725-3p	CLIP-seq
MIRT2590058	hsa-miR-595	CLIP-seq
MIRT2590059	hsa-miR-648	CLIP-seq
MIRT2590053	hsa-miR-19a	CLIP-seq
MIRT2590054	hsa-miR-19b	CLIP-seq
MIRT1221162	hsa-miR-2110	CLIP-seq
MIRT2063819	hsa-miR-4271	CLIP-seq
MIRT2590055	hsa-miR-4426	CLIP-seq
MIRT2590056	hsa-miR-4647	CLIP-seq
MIRT2590057	hsa-miR-4662b	CLIP-seq
MIRT2063828	hsa-miR-4725-3p	CLIP-seq
MIRT2590058	hsa-miR-595	CLIP-seq
MIRT2590059	hsa-miR-648	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
EGR1	Activation	16092976
ELK1	Unknown	9690620
FOXO1	Unknown	19244250
SP1	Unknown	22415074

105

Show/Hide all (105)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	TAS
GO:0001525	Process	Angiogenesis	IBA
GO:0001892	Process	Embryonic placenta development	ISS
GO:0001938	Process	Positive regulation of endothelial cell proliferation	IDA	9685360
GO:0002548	Process	Monocyte chemotaxis	IDA	17991872
GO:0003104	Process	Positive regulation of glomerular filtration	ISS
GO:0005161	Function	Platelet-derived growth factor receptor binding	EXP	20534510
GO:0005161	Function	Platelet-derived growth factor receptor binding	IBA
GO:0005161	Function	Platelet-derived growth factor receptor binding	IDA	2439522, 2836953
GO:0005161	Function	Platelet-derived growth factor receptor binding	IPI	2536956
GO:0005161	Function	Platelet-derived growth factor receptor binding	NAS	1661670
GO:0005515	Function	Protein binding	IPI	2536956, 7679113, 10806482, 11297552, 12070119, 17981115, 20534510, 32296183
GO:0005518	Function	Collagen binding	IDA	8900172
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	1661670
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IBA
GO:0005737	Component	Cytoplasm	ISS
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	TAS
GO:0006468	Process	Protein phosphorylation	IDA	17942966
GO:0007169	Process	Cell surface receptor protein tyrosine kinase signaling pathway	IEA
GO:0007507	Process	Heart development	ISS
GO:0008083	Function	Growth factor activity	IDA	12070119
GO:0008083	Function	Growth factor activity	IEA
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008284	Process	Positive regulation of cell population proliferation	IDA	2439522, 2836953, 7073684, 16530387
GO:0009611	Process	Response to wounding	IDA	2538439
GO:0009611	Process	Response to wounding	NAS	1661670
GO:0009986	Component	Cell surface	IDA	291037, 2538439, 2836953, 9685360
GO:0010467	Process	Gene expression	IDA	16530387
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010512	Process	Negative regulation of phosphatidylinositol biosynthetic process	IDA	2538439
GO:0010544	Process	Negative regulation of platelet activation	IDA	2538439
GO:0010557	Process	Positive regulation of macromolecule biosynthetic process	IEA
GO:0010628	Process	Positive regulation of gene expression	IDA	23554459
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	IDA	16530387, 23554459, 25089138
GO:0010811	Process	Positive regulation of cell-substrate adhesion	IDA	19126672
GO:0014805	Process	Smooth muscle adaptation	NAS	16477012
GO:0014911	Process	Positive regulation of smooth muscle cell migration	IDA	9409235
GO:0014911	Process	Positive regulation of smooth muscle cell migration	IEA
GO:0016020	Component	Membrane	IEA
GO:0016176	Function	Superoxide-generating NADPH oxidase activator activity	IDA	17942966
GO:0016323	Component	Basolateral plasma membrane	ISS
GO:0018108	Process	Peptidyl-tyrosine phosphorylation	IDA	10734101
GO:0030097	Process	Hemopoiesis	IMP	11264163
GO:0030335	Process	Positive regulation of cell migration	IBA
GO:0030335	Process	Positive regulation of cell migration	IDA	11788434, 21245381
GO:0031012	Component	Extracellular matrix	HDA	23979707
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031954	Process	Positive regulation of protein autophosphorylation	IDA	12070119
GO:0035556	Process	Intracellular signal transduction	IMP	24008408
GO:0035655	Process	Interleukin-18-mediated signaling pathway	IDA	21321938
GO:0035793	Process	Positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway	IDA	19019919
GO:0036120	Process	Cellular response to platelet-derived growth factor stimulus	IDA	9685360
GO:0036120	Process	Cellular response to platelet-derived growth factor stimulus	ISS
GO:0038001	Process	Paracrine signaling	ISS
GO:0042056	Function	Chemoattractant activity	IDA	21245381
GO:0042802	Function	Identical protein binding	IPI	1396586, 7679113, 23139410
GO:0042803	Function	Protein homodimerization activity	IDA	2836953
GO:0043406	Process	Positive regulation of MAP kinase activity	IDA	11788434, 17942966
GO:0043410	Process	Positive regulation of MAPK cascade	IDA	9685360
GO:0043410	Process	Positive regulation of MAPK cascade	IMP	11788434
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IDA	9685360
GO:0045840	Process	Positive regulation of mitotic nuclear division	IDA	10644978, 10734101, 17942966
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	25089138
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17324121
GO:0046982	Function	Protein heterodimerization activity	IPI	7073684
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IBA
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	IDA	2439522, 2536956, 2836953, 9685360, 16477012, 16530387, 19088079, 21245381, 23554459
GO:0048008	Process	Platelet-derived growth factor receptor signaling pathway	NAS	7679113
GO:0048018	Function	Receptor ligand activity	IEA
GO:0048146	Process	Positive regulation of fibroblast proliferation	IDA	2439522, 10644978, 17324121
GO:0048407	Function	Platelet-derived growth factor binding	IPI	7073684
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IDA	21321938
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IEA
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	ISS
GO:0050918	Process	Positive chemotaxis	IEA
GO:0050921	Process	Positive regulation of chemotaxis	IDA	9409235, 19019919
GO:0051239	Process	Regulation of multicellular organismal process	IEA
GO:0051781	Process	Positive regulation of cell division	IEA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IBA
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IDA	10734101, 11788434, 16477012, 16530387, 17942966, 19126672
GO:0060326	Process	Cell chemotaxis	IDA	16014047, 17991872, 21245381
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IBA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	11788434, 16530387, 17942966
GO:0071363	Process	Cellular response to growth factor stimulus	IDA	21245381
GO:0071506	Process	Cellular response to mycophenolic acid	ISS
GO:0072126	Process	Positive regulation of glomerular mesangial cell proliferation	IDA	11788434, 16014047
GO:0072255	Process	Metanephric glomerular mesangial cell development	ISS
GO:0072593	Process	Reactive oxygen species metabolic process	IMP	17942966
GO:0090280	Process	Positive regulation of calcium ion import	IDA	19019919
GO:1900127	Process	Positive regulation of hyaluronan biosynthetic process	IDA	17324121
GO:1902533	Process	Positive regulation of intracellular signal transduction	IEA
GO:1902894	Process	Negative regulation of miRNA transcription	IDA	26493107
GO:1902895	Process	Positive regulation of miRNA transcription	IDA	19088079
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IDA	12070119, 19088079, 23554459
GO:1904754	Process	Positive regulation of vascular associated smooth muscle cell migration	IDA	12070119, 19088079, 23554459
GO:1905064	Process	Negative regulation of vascular associated smooth muscle cell differentiation	IDA	19088079
GO:1905176	Process	Positive regulation of vascular associated smooth muscle cell dedifferentiation	IDA	19088079
GO:1990265	Component	Platelet-derived growth factor complex	IPI	7679113
GO:2000379	Process	Positive regulation of reactive oxygen species metabolic process	IDA	19019919
GO:2000573	Process	Positive regulation of DNA biosynthetic process	IDA	10644978, 10734101, 11788434, 12070119, 17942966, 19019919
GO:2000591	Process	Positive regulation of metanephric mesenchymal cell migration	IDA	10734101

MIM	HGNC	e!Ensembl
190040	8800	ENSG00000100311

P01127

Protein name

Platelet-derived growth factor subunit B (PDGF subunit B) (PDGF-2) (Platelet-derived growth factor B chain) (Platelet-derived growth factor beta polypeptide) (Proto-oncogene c-Sis) (Becaplermin)

Protein function

Growth factor that plays an essential role in the regulation of embryonic development, cell proliferation, cell migration, survival and chemotaxis. Potent mitogen for cells of mesenchymal origin (PubMed:26599395). Required for normal proliferati

PDB

1PDG , 3MJG , 4HQU , 4HQX , 4QCI , 6T9E

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04692	PDGF_N	21 → 93	Platelet-derived growth factor, N terminal region	Family
PF00341	PDGF	97 → 180	PDGF/VEGF domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed at high levels in the heart, brain (sustantia nigra), placenta and fetal kidney. Expressed at moderate levels in the brain (hippocampus), skeletal muscle, kidney and lung. {ECO:0000269|PubMed:11331882}.

Sequence

MNRCWALFLSLCCYLRLVSAEGDPIPEELYEMLSDHSIRSFDDLQRLLHGDPGEEDGAEL
DLNMTRSHSGGELESLARGRRSLGSLTIAEPAMIAECKTRTEVFEISRRLIDRTNANFLV
WPPCVEVQRCSGCCNNRNVQCRPTQVQLRPVQVRKIEIVRKKPIFKKATVTLEDHLACKC
ETVAAARPVTRSPGGSQEQRAKTPQTRVTIRTVRVRRPPKGKHRKFKHTHDKTALKETLG
A

Sequence length

241

Interactions

View interactions

	KEGG		Reactome
	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway Calcium signaling pathway Phospholipase D signaling pathway PI3K-Akt signaling pathway Focal adhesion Gap junction JAK-STAT signaling pathway Regulation of actin cytoskeleton Kaposi sarcoma-associated herpesvirus infection Pathways in cancer MicroRNAs in cancer Renal cell carcinoma Glioma Prostate cancer Melanoma Choline metabolism in cancer Fluid shear stress and atherosclerosis		Platelet degranulation PIP3 activates AKT signaling Downstream signal transduction Signaling by PDGF Constitutive Signaling by Aberrant PI3K in Cancer Non-integrin membrane-ECM interactions RAF/MAP kinase cascade PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Basal ganglia calcification, idiopathic, 5	Likely pathogenic; Pathogenic	rs1390541592, rs1372805291, rs397515631, rs397515632, rs398122398, rs397515633, rs398122399, rs1932632616	RCV003741129 RCV003741130 RCV000066212 RCV000066214 RCV000066216 RCV000066218 RCV000066220 RCV001253677
Meningioma	Pathogenic	rs2517756784	RCV000013429
PDGFB-related disorder	Pathogenic	rs397515633	RCV004730870

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cholangiocarcinoma	Likely benign	rs36091905	RCV005919227
Colon adenocarcinoma	Uncertain significance	rs376638696	RCV005927000
Dermatofibrosarcoma protuberans	Benign; Likely benign	rs146468845, rs114786489, rs17303681	RCV000625214 RCV000625215 RCV000625216
Familial cancer of breast	Likely benign	rs36091905	RCV005919224
Familial meningioma	Conflicting classifications of pathogenicity; Uncertain significance	rs371825684, rs1932148548	RCV005397327 RCV001195858
Gastric cancer	Likely benign	rs36091905	RCV005919226
Hereditary breast ovarian cancer syndrome	Uncertain significance	rs938487402	RCV001374552
Idiopathic basal ganglia calcification 1	Conflicting classifications of pathogenicity; Uncertain significance	rs371825684, rs116555717	RCV005397327 RCV005420448
Sarcoma	Likely benign	rs36091905	RCV005919225

Show/Hide Text Mining Associations (134)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	24299561
Adenocarcinoma Clear Cell	Associate	18084257
Adenocarcinoma of Lung	Associate	34301211
Antiphospholipid Syndrome	Associate	34489952
Astrocytoma	Associate	2164040
Atherosclerosis	Associate	1906887, 3282240, 38175715
Atherosclerosis	Stimulate	2434949
Blood Platelet Disorders	Associate	26367242
Brain Diseases	Associate	16731589
Brain Neoplasms	Associate	33568653
Breast Neoplasms	Associate	23012449, 23912956, 35793004
Bronchiolitis Obliterans Syndrome	Associate	9636965
Bursitis	Stimulate	32270543
Carcinogenesis	Associate	22376240
Carcinoma Hepatocellular	Associate	27821810
Carcinoma Merkel Cell	Associate	18408656
Carcinoma Non Small Cell Lung	Associate	19628565
Carcinoma Pancreatic Ductal	Associate	32923157
Carcinoma Renal Cell	Associate	25550804, 26215891, 37047421, 8855223
Carcinoma Small Cell	Associate	35662501
Carcinoma Squamous Cell	Associate	24299561
Celiac Disease	Associate	25327457
Cerebellar Ataxia	Associate	37584462
Cerebellar Ataxia Deafness and Narcolepsy	Associate	37584462
Cerebral Hemorrhage	Associate	38156729
Cerebral Small Vessel Diseases	Associate	38156729
Cholangiocarcinoma	Associate	21492330
Cicatrix	Associate	31964744
Cognition Disorders	Associate	29955172
Colonic Neoplasms	Associate	8238254
Coronary Artery Disease	Associate	27835972
Coronary Disease	Associate	36059119
Crohn Disease	Associate	25578979
Cystadenofibroma	Associate	18084257
Cystic Fibrosis	Associate	20717068
Dementia	Associate	37584462
Dermatofibrosarcoma	Associate	11272901, 14633610, 16040406, 16126884, 16731589, 16980946, 17431412, 20439456, 22153773, 22523339, 23199263, 23614918, 23922791, 25081750, 25683993 View all (12 more)
Desmoplastic Small Round Cell Tumor	Associate	22403002
Diabetes Gestational	Stimulate	20144210
Dissection Thoracic Aorta	Stimulate	29685513
Down Syndrome	Associate	2955817
Endometriosis	Associate	18084257
Esophageal Squamous Cell Carcinoma	Associate	36290884
Fahr's disease	Associate	24518837, 24796542, 25211641, 28935882, 29578123, 29955172, 30952898, 33714066, 33793087, 36206226, 36862146, 38156729, 38433263
Fibrosarcoma	Associate	30877273
Fibrosis	Associate	31964744
Frasier Syndrome	Associate	11272901
Fuchs' Endothelial Dystrophy	Associate	31847785
Gait Disorders Neurologic	Associate	25211641
Gallbladder Neoplasms	Associate	26320430, 38554345
Gallstones	Associate	26320430
Gastrointestinal Stromal Tumors	Associate	25987131
Gastrointestinal Stromal Tumors	Inhibit	33524869
Gastroparesis	Associate	29052298
Giant Cell Arteritis	Associate	40084998
Glioblastoma	Associate	34875133
Glioma	Associate	1653246, 16760646, 17292826, 28534507, 34562087
Glioma	Stimulate	25478951
Gliosarcoma	Associate	16731589
Glycosuria Renal	Associate	8579107
Headache	Associate	36206226
Hemangiosarcoma	Associate	33762682
Histiocytoma Malignant Fibrous	Associate	16731589
Hyperplasia	Associate	26320430, 40084998
Hypoxia	Associate	34637697, 35793004
Hypoxia	Stimulate	36484652
Idiopathic basal ganglia calcification childhood onset	Associate	25292412
Idiopathic Noncirrhotic Portal Hypertension	Inhibit	23620752
Idiopathic Pulmonary Fibrosis	Associate	2170444
Idiopathic Pulmonary Fibrosis	Stimulate	2347924
Inflammation	Associate	11780721, 26320430, 37995775, 40084286
Inflammatory Bowel Diseases	Associate	25327457
Ischemia	Associate	38156729
Ischemic Attack Transient	Associate	38156729
Keratoconus	Inhibit	38064228
Kidney Diseases	Associate	12427131
Laryngitis	Associate	24518837
Leukemia Megakaryoblastic Acute	Associate	2955817
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	3456250
Leukemia Myeloid	Associate	3529084
Leukemia Myelomonocytic Chronic	Associate	3456250
Leukoencephalopathies	Associate	38156729
Liver Cirrhosis Biliary	Associate	25327457, 25690649
Lung Diseases Interstitial	Associate	3722386
Lung Neoplasms	Associate	21729646, 26517240, 28204826
Lymphatic Metastasis	Associate	19628565, 23012449, 32235327
Lymphoma	Associate	1829952
Malignant mesenchymal tumor	Associate	7961814
Mannose Binding Protein Deficiency	Inhibit	26745156
Medulloblastoma	Associate	7685850
Melanoma	Associate	33762682
Meningioma	Associate	2212004, 29858948
Mental Disorders	Associate	25211641, 29955172, 36862146, 38156729
Mesothelioma Malignant	Associate	8988239
Migraine Disorders	Stimulate	35546551
Mouth Diseases	Associate	31314805
Movement Disorders	Associate	38156729
Myocardial Infarction	Associate	38175715
Neoplasm Metastasis	Associate	19628565, 25690670, 28977029, 34830178
Neoplasms	Associate	11160902, 12960151, 16040406, 17227125, 17431412, 1829952, 18758297, 19628565, 21118571, 2164040, 2212004, 22403002, 24194900, 25740390, 26215891 View all (18 more)
Neoplasms	Stimulate	17071599, 22376240
Neuroblastoma	Associate	8376577
Non alcoholic Fatty Liver Disease	Associate	34706243
Osteosarcoma	Associate	3456904, 3460062, 8662647
Ovarian Diseases	Associate	28397199
Ovarian Neoplasms	Associate	28397199, 33921111
Pancreatic Neoplasms	Associate	22403002
Pancreatitis	Associate	16680157
Parkinson Disease Secondary	Associate	29955172
Plaque Atherosclerotic	Associate	3282240, 8099470
Pneumonia	Stimulate	11179307
Pneumonia	Associate	3722386
Prostate cancer familial	Associate	29095436
Prostate Cancer Hereditary 7	Associate	25131421
Pulmonary Arterial Hypertension	Associate	30543306
Radiation Injuries	Associate	24512807
Retinopathy of Prematurity	Associate	40084286
Sarcoidosis Pulmonary	Associate	2341565
Sarcoma	Associate	16731589, 29104083, 30877273, 33762682, 35238118, 36928336
Sarcoma Kaposi	Associate	1323124, 8952524
Severe combined immunodeficiency due to adenosine deaminase deficiency	Associate	22153773
Spondylitis Ankylosing	Associate	37798786
Squamous Cell Carcinoma of Head and Neck	Associate	39375732
Stomach Neoplasms	Associate	21118571, 28423550, 38106450
Stomach Ulcer	Associate	23620752
Stroke	Associate	38156729
Thrombocythemia Essential	Associate	15682418
Thrombocytopenia	Associate	23620752
Uterine Cervical Neoplasms	Associate	25311137
Uterine Neoplasms	Associate	30877273
Varicose Ulcer	Inhibit	19638959
Venous Malformations Multiple Cutaneous and Mucosal	Associate	23633549, 32867785
Venous Thromboembolism	Stimulate	27742707
Wounds and Injuries	Associate	8697155

PDGFB (platelet derived growth factor subunit B)