• Gene id: 5159

Gene Summary

• Gene Symbol: PDGFRB   Gene   UCSC   Ensembl
• Aliases: CD140B, IBGC4, IMF1, JTK12, KOGS, PDGFR, PDGFR-1, PDGFR1, PENTT
• Gene name: platelet derived growth factor receptor beta
• Alternate names: platelet-derived growth factor receptor beta, Activated tyrosine kinase PDGFRB, CD140 antigen-like family member B, NDEL1-PDGFRB, PDGF-R-beta, PDGFR-beta, beta-type platelet-derived growth factor receptor, platelet-derived growth factor receptor 1, platelet-deriv,
• Gene location: 5q32 (150155844: 150113838)     Exons: 24     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is a cell surface tyrosine kinase receptor for members of the platelet-derived growth factor family. These growth factors are mitogens for cells of mesenchymal origin. The identity of the growth factor bound to a receptor
• OMIM: 616670

Protein Summary

• Protein general information: P09619  
  • Name: Platelet derived growth factor receptor beta (PDGF R beta) (PDGFR beta) (EC 2.7.10.1) (Beta platelet derived growth factor receptor) (Beta type platelet derived growth factor receptor) (CD140 antigen like family member B) (Platelet derived growth factor r
  • Length: 1106  
  • Mass: 123968
• Sequence:

  MRLPGAMPALALKGELLLLSLLLLLEPQISQGLVVTPPGPELVLNVSSTFVLTCSGSAPVVWERMSQEPPQEMAK
  AQDGTFSSVLTLTNLTGLDTGEYFCTHNDSRGLETDERKRLYIFVPDPTVGFLPNDAEELFIFLTEITEITIPCR
  VTDPQLVVTLHEKKGDVALPVPYDHQRGFSGIFEDRSYICKTTIGDREVDSDAYYVYRLQVSSINVSVNAVQTVV
  RQGENITLMCIVIGNEVVNFEWTYPRKESGRLVEPVTDFLLDMPYHIRSILHIPSAELEDSGTYTCNVTESVNDH
  QDEKAINITVVESGYVRLLGEVGTLQFAELHRSRTLQVVFEAYPPPTVLWFKDNRTLGDSSAGEIALSTRNVSET
  RYVSELTLVRVKVAEAGHYTMRAFHEDAEVQLSFQLQINVPVRVLELSESHPDSGEQTVRCRGRGMPQPNIIWSA
  CRDLKRCPRELPPTLLGNSSEEESQLETNVTYWEEEQEFEVVSTLRLQHVDRPLSVRCTLRNAVGQDTQEVIVVP
  HSLPFKVVVISAILALVVLTIISLIILIMLWQKKPRYEIRWKVIESVSSDGHEYIYVDPMQLPYDSTWELPRDQL
  VLGRTLGSGAFGQVVEATAHGLSHSQATMKVAVKMLKSTARSSEKQALMSELKIMSHLGPHLNVVNLLGACTKGG
  PIYIITEYCRYGDLVDYLHRNKHTFLQHHSDKRRPPSAELYSNALPVGLPLPSHVSLTGESDGGYMDMSKDESVD
  YVPMLDMKGDVKYADIESSNYMAPYDNYVPSAPERTCRATLINESPVLSYMDLVGFSYQVANGMEFLASKNCVHR
  DLAARNVLICEGKLVKICDFGLARDIMRDSNYISKGSTFLPLKWMAPESIFNSLYTTLSDVWSFGILLWEIFTLG
  GTPYPELPMNEQFYNAIKRGYRMAQPAHASDEIYEIMQKCWEEKFEIRPPFSQLVLLLERLLGEGYKKKYQQVDE
  EFLRSDHPAILRSQARLPGFHGLRSPLDTSSVLYTAVQPNEGDNDYIIPLPDPKPEVADEGPLEGSPSLASSTLN
  EVNTSSTISCDSPLEPQDEPEPEPQLELQVEPEPELEQLPDSGCPAPRAEAEDSFL

• Structural information:
  • Protein Domains: (33..12-)
    1 (/note="Ig-like-C2-type)
    (129..21-)
    2 (/note="Ig-like-C2-type)
    (214..30-)
    3 (/note="Ig-like-C2-type)
    (331..40-)
    4 (/note="Ig-like-C2-type)
    (416..52-)
    5 (/note="Ig-like-C2-type)
    (600..96-)
    (/note="Protei-)
  • Interpro: IPR007110  IPR036179  IPR013783  IPR013098  IPR003599   IPR003598  IPR013151  IPR011009  IPR027288  IPR000719  IPR017441  IPR001245  IPR008266  IPR020635  IPR001824  
  • Prosite: PS50835 PS00107 PS50011 PS00109 PS00240
  • PDB: 1GQ5 1H9O 1LWP 1SHA 2IUI 2L6W 2PLD 2PLE 3MJG
  • PDBsum: 1GQ5 1H9O 1LWP 1SHA 2IUI 2L6W 2PLD 2PLE 3MJG
  • DIP: 558
  • STRING: ENSP00000261799
• Other Databases: GeneCards:  PDGFRB  Malacards:  PDGFRB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IBA	molecular function
GO:0005017	platelet-derived growth factor-activated receptor activity	IBA	molecular function
GO:0033674	positive regulation of kinase activity	IBA	biological process
GO:0043235	receptor complex	IBA	cellular component
GO:0002244	hematopoietic progenitor cell differentiation	IBA	biological process
GO:0005019	platelet-derived growth factor beta-receptor activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IBA	biological process
GO:0007275	multicellular organism development	IBA	biological process
GO:0014911	positive regulation of smooth muscle cell migration	IBA	biological process
GO:0019838	growth factor binding	IBA	molecular function
GO:0048407	platelet-derived growth factor binding	IBA	molecular function
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0043552	positive regulation of phosphatidylinositol 3-kinase activity	IDA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0010863	positive regulation of phospholipase C activity	IDA	biological process
GO:0004713	protein tyrosine kinase activity	IDA	molecular function
GO:0060326	cell chemotaxis	IDA	biological process
GO:0048407	platelet-derived growth factor binding	IDA	molecular function
GO:0048407	platelet-derived growth factor binding	IDA	molecular function
GO:0048008	platelet-derived growth factor receptor signaling pathway	IDA	biological process
GO:0032516	positive regulation of phosphoprotein phosphatase activity	IDA	biological process
GO:0031226	intrinsic component of plasma membrane	IDA	cellular component
GO:0005019	platelet-derived growth factor beta-receptor activity	IDA	molecular function
GO:0005019	platelet-derived growth factor beta-receptor activity	IDA	molecular function
GO:0060981	cell migration involved in coronary angiogenesis	ISS	biological process
GO:0046488	phosphatidylinositol metabolic process	IMP	biological process
GO:0016477	cell migration	IMP	biological process
GO:0008284	positive regulation of cell population proliferation	IMP	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IMP	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IMP	biological process
GO:0048015	phosphatidylinositol-mediated signaling	IMP	biological process
GO:0035791	platelet-derived growth factor receptor-beta signaling pathway	IMP	biological process
GO:0035441	cell migration involved in vasculogenesis	ISS	biological process
GO:0014911	positive regulation of smooth muscle cell migration	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005102	signaling receptor binding	IPI	molecular function
GO:0005019	platelet-derived growth factor beta-receptor activity	IMP	molecular function
GO:0035791	platelet-derived growth factor receptor-beta signaling pathway	IMP	biological process
GO:0005019	platelet-derived growth factor beta-receptor activity	IMP	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005019	platelet-derived growth factor beta-receptor activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0007169	transmembrane receptor protein tyrosine kinase signaling pathway	IEA	biological process
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA	biological process
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0005764	lysosome	IEA	cellular component
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0006935	chemotaxis	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016310	phosphorylation	IEA	biological process
GO:0005017	platelet-derived growth factor-activated receptor activity	TAS	molecular function
GO:0004992	platelet activating factor receptor activity	TAS	molecular function
GO:0004714	transmembrane receptor protein tyrosine kinase activity	IEA	molecular function
GO:0000165	MAPK cascade	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0051897	positive regulation of protein kinase B signaling	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097178	ruffle assembly	IEA	biological process
GO:0090280	positive regulation of calcium ion import	IEA	biological process
GO:0072262	metanephric glomerular mesangial cell proliferation involved in metanephros development	IEA	biological process
GO:0071670	smooth muscle cell chemotaxis	IEA	biological process
GO:0060981	cell migration involved in coronary angiogenesis	IEA	biological process
GO:0055003	cardiac myofibril assembly	IEA	biological process
GO:0050921	positive regulation of chemotaxis	IEA	biological process
GO:0048745	smooth muscle tissue development	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0046777	protein autophosphorylation	IEA	biological process
GO:0043406	positive regulation of MAP kinase activity	IEA	biological process
GO:0030325	adrenal gland development	IEA	biological process
GO:0018108	peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0016301	kinase activity	IEA	molecular function
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0006807	nitrogen compound metabolic process	IEA	biological process
GO:0005017	platelet-derived growth factor-activated receptor activity	IEA	molecular function
GO:0001822	kidney development	IEA	biological process
GO:0001726	ruffle	IEA	cellular component
GO:2000491	positive regulation of hepatic stellate cell activation	IEA	biological process
GO:0072284	metanephric S-shaped body morphogenesis	IEA	biological process
GO:0072278	metanephric comma-shaped body morphogenesis	IEA	biological process
GO:0060437	lung growth	IEA	biological process
GO:0043627	response to estrogen	IEA	biological process
GO:0043548	phosphatidylinositol 3-kinase binding	IEA	molecular function
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0042060	wound healing	IEA	biological process
GO:0035789	metanephric mesenchymal cell migration	IEA	biological process
GO:0033993	response to lipid	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0014070	response to organic cyclic compound	IEA	biological process
GO:0009636	response to toxic substance	IEA	biological process
GO:0008284	positive regulation of cell population proliferation	IEA	biological process
GO:0007568	aging	IEA	biological process
GO:0005017	platelet-derived growth factor-activated receptor activity	IEA	molecular function
GO:0004713	protein tyrosine kinase activity	IEA	molecular function
GO:2000573	positive regulation of DNA biosynthetic process	IEA	biological process
GO:2000379	positive regulation of reactive oxygen species metabolic process	IEA	biological process
GO:0106096	response to ceramide	IEA	biological process
GO:0072277	metanephric glomerular capillary formation	IEA	biological process
GO:0072223	metanephric glomerular mesangium development	IEA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IEA	biological process
GO:0070301	cellular response to hydrogen peroxide	IEA	biological process
GO:0061298	retina vasculature development in camera-type eye	IEA	biological process
GO:0050730	regulation of peptidyl-tyrosine phosphorylation	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0048008	platelet-derived growth factor receptor signaling pathway	IEA	biological process
GO:0045840	positive regulation of mitotic nuclear division	IEA	biological process
GO:0035909	aorta morphogenesis	IEA	biological process
GO:0035793	positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway	IEA	biological process
GO:0035441	cell migration involved in vasculogenesis	IEA	biological process
GO:0032956	regulation of actin cytoskeleton organization	IEA	biological process
GO:0014911	positive regulation of smooth muscle cell migration	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005102	signaling receptor binding	IEA	molecular function
GO:0001894	tissue homeostasis	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001568	blood vessel development	IEA	biological process
GO:0072275	metanephric glomerulus morphogenesis	IEA	biological process
GO:0072075	metanephric mesenchyme development	IEA	biological process
GO:0055093	response to hyperoxia	IEA	biological process
GO:0048839	inner ear development	IEA	biological process
GO:0048146	positive regulation of fibroblast proliferation	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0042542	response to hydrogen peroxide	IEA	biological process
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0035025	positive regulation of Rho protein signal transduction	IEA	biological process
GO:0034405	response to fluid shear stress	IEA	biological process
GO:0032967	positive regulation of collagen biosynthetic process	IEA	biological process
GO:0032526	response to retinoic acid	IEA	biological process
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0009986	cell surface	IEA	cellular component
GO:0008584	male gonad development	IEA	biological process
GO:0006024	glycosaminoglycan biosynthetic process	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005161	platelet-derived growth factor receptor binding	IPI	molecular function
GO:0038085	vascular endothelial growth factor binding	IPI	molecular function
GO:0005019	platelet-derived growth factor beta-receptor activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048407	platelet-derived growth factor binding	IPI	molecular function
GO:0018108	peptidyl-tyrosine phosphorylation	IDA	biological process
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0038091	positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway	IDA	biological process
GO:0046777	protein autophosphorylation	IDA	biological process
GO:0019899	enzyme binding	IPI	molecular function
GO:0071670	smooth muscle cell chemotaxis	ISS	biological process
GO:0016020	membrane	IDA	cellular component
GO:0048008	platelet-derived growth factor receptor signaling pathway	IDA	biological process
GO:0060326	cell chemotaxis	IDA	biological process
GO:0014911	positive regulation of smooth muscle cell migration	ISS	biological process
GO:0032956	regulation of actin cytoskeleton organization	ISS	biological process
GO:0035909	aorta morphogenesis	ISS	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0043202	lysosomal lumen	IEA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0036120	cellular response to platelet-derived growth factor stimulus	IEA	biological process
GO:0036120	cellular response to platelet-derived growth factor stimulus	IEA	biological process
GO:0036120	cellular response to platelet-derived growth factor stimulus	IEA	biological process
GO:0036120	cellular response to platelet-derived growth factor stimulus	IEA	biological process
GO:0007165	signal transduction	IDA	biological process
GO:0005925	focal adhesion	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0090280	positive regulation of calcium ion import	ISS	biological process
GO:0043406	positive regulation of MAP kinase activity	ISS	biological process
GO:0014068	positive regulation of phosphatidylinositol 3-kinase signaling	ISS	biological process
GO:2000573	positive regulation of DNA biosynthetic process	ISS	biological process
GO:2000379	positive regulation of reactive oxygen species metabolic process	ISS	biological process
GO:0072277	metanephric glomerular capillary formation	ISS	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	ISS	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	ISS	biological process
GO:0045840	positive regulation of mitotic nuclear division	ISS	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0016324	apical plasma membrane	ISS	cellular component
GO:0014911	positive regulation of smooth muscle cell migration	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0072262	metanephric glomerular mesangial cell proliferation involved in metanephros development	ISS	biological process
GO:0055003	cardiac myofibril assembly	ISS	biological process
GO:0050921	positive regulation of chemotaxis	ISS	biological process
GO:0061298	retina vasculature development in camera-type eye	ISS	biological process
GO:0035793	positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway	ISS	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa04151	PI3K-Akt signaling pathway
hsa05165	Human papillomavirus infection
hsa04010	MAPK signaling pathway
hsa05206	MicroRNAs in cancer
hsa04014	Ras signaling pathway
hsa04810	Regulation of actin cytoskeleton
hsa04015	Rap1 signaling pathway
hsa04020	Calcium signaling pathway
hsa04510	Focal adhesion
hsa04072	Phospholipase D signaling pathway
hsa04630	JAK-STAT signaling pathway
hsa05231	Choline metabolism in cancer
hsa04540	Gap junction
hsa05215	Prostate cancer
hsa05214	Glioma
hsa01521	EGFR tyrosine kinase inhibitor resistance
hsa05218	Melanoma
hsa05230	Central carbon metabolism in cancer

Diseases

Associated diseases	References
Glioma	KEGG:H00042
Familial idiopathic basal ganglia calcification	KEGG:H01574
Infantile myofibromatosis	KEGG:H01910
Glioma	KEGG:H00042
Familial idiopathic basal ganglia calcification	KEGG:H01574
Infantile myofibromatosis	KEGG:H01910
Kuhnt-Junius degeneration	PMID:22773904
Breast cancer	PMID:17390053
Myeloproliferative neoplasm	PMID:12181402
Leydig cell tumor	PMID:11994382
Glioblastoma multiforme	PMID:24566984
Breast carcinoma	PMID:16741576
choriocarcinoma	PMID:8504434
renal cell carcinoma	PMID:16865223
renal cell carcinoma	PMID:15994946
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq