Endometriosis Knowledgebase


A repository for genes associated with endometriosis

Search Result


Gene id 5156
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary

Gene Symbol PDGFRA   Gene   UCSC   Ensembl
Aliases CD140A, PDGFR-2, PDGFR2
Gene name platelet derived growth factor receptor alpha
Alternate names platelet-derived growth factor receptor alpha, CD140 antigen-like family member A, CD140a antigen, PDGF-R-alpha, alpha-type platelet-derived growth factor receptor, platelet-derived growth factor receptor 2, platelet-derived growth factor receptor, alpha polype,
Gene location 4q12 (54229096: 54298244)     Exons: 28     NC_000004.12
Gene summary(Entrez) This gene encodes 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 monomer determines whether the functional receptor is a homodimer or a heterodimer, composed of both platelet-derived growth factor receptor alpha and beta polypeptides. Studies suggest that this gene plays a role in organ development, wound healing, and tumor progression. Mutations in this gene have been associated with idiopathic hypereosinophilic syndrome, somatic and familial gastrointestinal stromal tumors, and a variety of other cancers. [provided by RefSeq, Mar 2012]
OMIM 173490

Protein Summary

Protein general information P16234  

Name: Platelet derived growth factor receptor alpha (PDGF R alpha) (PDGFR alpha) (EC 2.7.10.1) (Alpha platelet derived growth factor receptor) (Alpha type platelet derived growth factor receptor) (CD140 antigen like family member A) (CD140a antigen) (Platelet d

Length: 1089  Mass: 122,670

Tissue specificity: Detected in platelets (at protein level). Widely expressed. Detected in brain, fibroblasts, smooth muscle, heart, and embryo. Expressed in primary and metastatic colon tumors and in normal colon tissue. {ECO

Sequence MGTSHPAFLVLGCLLTGLSLILCQLSLPSILPNENEKVVQLNSSFSLRCFGESEVSWQYPMSEEESSDVEIRNEE
NNSGLFVTVLEVSSASAAHTGLYTCYYNHTQTEENELEGRHIYIYVPDPDVAFVPLGMTDYLVIVEDDDSAIIPC
RTTDPETPVTLHNSEGVVPASYDSRQGFNGTFTVGPYICEATVKGKKFQTIPFNVYALKATSELDLEMEALKTVY
KSGETIVVTCAVFNNEVVDLQWTYPGEVKGKGITMLEEIKVPSIKLVYTLTVPEATVKDSGDYECAARQATREVK
EMKKVTISVHEKGFIEIKPTFSQLEAVNLHEVKHFVVEVRAYPPPRISWLKNNLTLIENLTEITTDVEKIQEIRY
RSKLKLIRAKEEDSGHYTIVAQNEDAVKSYTFELLTQVPSSILDLVDDHHGSTGGQTVRCTAEGTPLPDIEWMIC
KDIKKCNNETSWTILANNVSNIITEIHSRDRSTVEGRVTFAKVEETIAVRCLAKNLLGAENRELKLVAPTLRSEL
TVAAAVLVLLVIVIISLIVLVVIWKQKPRYEIRWRVIESISPDGHEYIYVDPMQLPYDSRWEFPRDGLVLGRVLG
SGAFGKVVEGTAYGLSRSQPVMKVAVKMLKPTARSSEKQALMSELKIMTHLGPHLNIVNLLGACTKSGPIYIITE
YCFYGDLVNYLHKNRDSFLSHHPEKPKKELDIFGLNPADESTRSYVILSFENNGDYMDMKQADTTQYVPMLERKE
VSKYSDIQRSLYDRPASYKKKSMLDSEVKNLLSDDNSEGLTLLDLLSFTYQVARGMEFLASKNCVHRDLAARNVL
LAQGKIVKICDFGLARDIMHDSNYVSKGSTFLPVKWMAPESIFDNLYTTLSDVWSYGILLWEIFSLGGTPYPGMM
VDSTFYNKIKSGYRMAKPDHATSEVYEIMVKCWNSEPEKRPSFYHLSEIVENLLPGQYKKSYEKIHLDFLKSDHP
AVARMRVDSDNAYIGVTYKNEEDKLKDWEGGLDEQRLSADSGYIIPLPDIDPVPEEEDLGKRNRHSSQTSEESAI
ETGSSSSTFIKREDETIEDIDMMDDIGIDSSDLVEDSFL
Structural information
Protein Domains
Ig-like (24-113)
Ig-like (117-201)
Ig-like (202-306)
Ig-like (319-410)
Ig-like (414-517)
Protein (593-954)
Interpro:  IPR007110 IPR013783 IPR013098 IPR003599 IPR003598 IPR011009 IPR027290 IPR000719 IPR017441 IPR001245 IPR008266 IPR020635 IPR016243 IPR001824
Prosite:   PS50835 PS00107 PS50011 PS00109 PS00240

Pfam:  
PF07679 PF07714

PDB:  
1GQ5 5K5X
PDBsum:   1GQ5 5K5X

DIP:  
5736
MINT:   4529366
STRING:   ENSP00000257290;
Other Databases GeneCards:  PDGFRA;  Malacards:  PDGFRA

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000165 MAPK cascade
TAS biological_process
GO:0001553 luteinization
ISS biological_process
GO:0001775 cell activation
TAS biological_process
GO:0004672 protein kinase activity
IDA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IDA molecular_function
GO:0005018 platelet-derived growth f
actor alpha-receptor acti
vity
IDA molecular_function
GO:0005018 platelet-derived growth f
actor alpha-receptor acti
vity
IDA molecular_function
GO:0005018 platelet-derived growth f
actor alpha-receptor acti
vity
IMP molecular_function
GO:0005018 platelet-derived growth f
actor alpha-receptor acti
vity
IDA molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IDA molecular_function
GO:0005088 Ras guanyl-nucleotide exc
hange factor activity
TAS molecular_function
GO:0005161 platelet-derived growth f
actor receptor 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:0005524 ATP binding
IEA molecular_function
GO:0005634 nucleus
ISS cellular_component
GO:0005737 cytoplasm
ISS 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:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0007204 positive regulation of cy
tosolic calcium ion conce
ntration
IMP biological_process
GO:0008284 positive regulation of ce
ll proliferation
IMP biological_process
GO:0010544 negative regulation of pl
atelet activation
IDA biological_process
GO:0010863 positive regulation of ph
ospholipase C activity
IMP biological_process
GO:0014066 regulation of phosphatidy
linositol 3-kinase signal
ing
TAS biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
TAS biological_process
GO:0016020 membrane
IDA cellular_component
GO:0016032 viral process
IEA biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0030335 positive regulation of ce
ll migration
IMP biological_process
GO:0030335 positive regulation of ce
ll migration
IDA biological_process
GO:0031226 intrinsic component of pl
asma membrane
IDA cellular_component
GO:0034614 cellular response to reac
tive oxygen species
IDA biological_process
GO:0035790 platelet-derived growth f
actor receptor-alpha sign
aling pathway
IMP biological_process
GO:0038085 vascular endothelial grow
th factor binding
IPI molecular_function
GO:0038091 positive regulation of ce
ll proliferation by VEGF-
activated platelet derive
d growth factor receptor
signaling pathway
IDA biological_process
GO:0042060 wound healing
ISS biological_process
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0043234 protein complex
IDA cellular_component
GO:0043547 positive regulation of GT
Pase activity
IEA biological_process
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
IMP biological_process
GO:0045740 positive regulation of DN
A replication
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046854 phosphatidylinositol phos
phorylation
IEA biological_process
GO:0046934 phosphatidylinositol-4,5-
bisphosphate 3-kinase act
ivity
TAS molecular_function
GO:0048008 platelet-derived growth f
actor receptor signaling
pathway
IDA biological_process
GO:0048008 platelet-derived growth f
actor receptor signaling
pathway
IDA biological_process
GO:0048015 phosphatidylinositol-medi
ated signaling
IMP biological_process
GO:0048015 phosphatidylinositol-medi
ated signaling
TAS biological_process
GO:0048146 positive regulation of fi
broblast proliferation
IDA biological_process
GO:0048407 platelet-derived growth f
actor binding
IPI molecular_function
GO:0048407 platelet-derived growth f
actor binding
IPI molecular_function
GO:0048407 platelet-derived growth f
actor binding
IDA molecular_function
GO:0048407 platelet-derived growth f
actor binding
IDA molecular_function
GO:0048557 embryonic digestive tract
morphogenesis
ISS biological_process
GO:0048701 embryonic cranial skeleto
n morphogenesis
ISS biological_process
GO:0048704 embryonic skeletal system
morphogenesis
ISS biological_process
GO:0050920 regulation of chemotaxis
IMP biological_process
GO:0055003 cardiac myofibril assembl
y
ISS biological_process
GO:0060326 cell chemotaxis
IMP biological_process
GO:0061298 retina vasculature develo
pment in camera-type eye
ISS biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IMP biological_process
GO:0070527 platelet aggregation
IMP biological_process
GO:0072277 metanephric glomerular ca
pillary formation
ISS biological_process
GO:2000249 regulation of actin cytos
keleton reorganization
TAS biological_process
GO:2000739 regulation of mesenchymal
stem cell differentiatio
n
IMP biological_process
GO:0000165 MAPK cascade
TAS biological_process
GO:0000166 nucleotide binding
IEA molecular_function
GO:0001553 luteinization
ISS biological_process
GO:0001775 cell activation
TAS biological_process
GO:0004672 protein kinase activity
IEA molecular_function
GO:0004672 protein kinase activity
IDA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IEA molecular_function
GO:0004713 protein tyrosine kinase a
ctivity
IEA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IEA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IEA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IDA molecular_function
GO:0005018 platelet-derived growth f
actor alpha-receptor acti
vity
IEA molecular_function
GO:0005018 platelet-derived growth f
actor alpha-receptor acti
vity
IDA molecular_function
GO:0005018 platelet-derived growth f
actor alpha-receptor acti
vity
IDA molecular_function
GO:0005018 platelet-derived growth f
actor alpha-receptor acti
vity
IMP molecular_function
GO:0005018 platelet-derived growth f
actor alpha-receptor acti
vity
IDA molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IDA molecular_function
GO:0005088 Ras guanyl-nucleotide exc
hange factor activity
TAS molecular_function
GO:0005161 platelet-derived growth f
actor receptor 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:0005524 ATP binding
IEA molecular_function
GO:0005524 ATP binding
IEA molecular_function
GO:0005634 nucleus
ISS cellular_component
GO:0005737 cytoplasm
ISS cellular_component
GO:0005886 plasma membrane
IEA cellular_component
GO:0005886 plasma membrane
IEA 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:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0006468 protein phosphorylation
IEA biological_process
GO:0006935 chemotaxis
IEA biological_process
GO:0007169 transmembrane receptor pr
otein tyrosine kinase sig
naling pathway
IEA biological_process
GO:0007204 positive regulation of cy
tosolic calcium ion conce
ntration
IMP biological_process
GO:0007275 multicellular organism de
velopment
IEA biological_process
GO:0008284 positive regulation of ce
ll proliferation
IMP biological_process
GO:0010544 negative regulation of pl
atelet activation
IDA biological_process
GO:0010863 positive regulation of ph
ospholipase C activity
IMP biological_process
GO:0014066 regulation of phosphatidy
linositol 3-kinase signal
ing
TAS biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
TAS biological_process
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IEA cellular_component
GO:0016020 membrane
IDA cellular_component
GO:0016021 integral component of mem
brane
IEA cellular_component
GO:0016032 viral process
IEA biological_process
GO:0016301 kinase activity
IEA molecular_function
GO:0016310 phosphorylation
IEA biological_process
GO:0016740 transferase activity
IEA molecular_function
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0030335 positive regulation of ce
ll migration
IMP biological_process
GO:0030335 positive regulation of ce
ll migration
IDA biological_process
GO:0031226 intrinsic component of pl
asma membrane
IDA cellular_component
GO:0034614 cellular response to reac
tive oxygen species
IDA biological_process
GO:0035790 platelet-derived growth f
actor receptor-alpha sign
aling pathway
IMP biological_process
GO:0038085 vascular endothelial grow
th factor binding
IPI molecular_function
GO:0038091 positive regulation of ce
ll proliferation by VEGF-
activated platelet derive
d growth factor receptor
signaling pathway
IDA biological_process
GO:0042060 wound healing
ISS biological_process
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0043234 protein complex
IDA cellular_component
GO:0043547 positive regulation of GT
Pase activity
IEA biological_process
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
IMP biological_process
GO:0045740 positive regulation of DN
A replication
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046854 phosphatidylinositol phos
phorylation
IEA biological_process
GO:0046934 phosphatidylinositol-4,5-
bisphosphate 3-kinase act
ivity
TAS molecular_function
GO:0048008 platelet-derived growth f
actor receptor signaling
pathway
IEA biological_process
GO:0048008 platelet-derived growth f
actor receptor signaling
pathway
IDA biological_process
GO:0048008 platelet-derived growth f
actor receptor signaling
pathway
IDA biological_process
GO:0048015 phosphatidylinositol-medi
ated signaling
IMP biological_process
GO:0048015 phosphatidylinositol-medi
ated signaling
TAS biological_process
GO:0048146 positive regulation of fi
broblast proliferation
IDA biological_process
GO:0048407 platelet-derived growth f
actor binding
IPI molecular_function
GO:0048407 platelet-derived growth f
actor binding
IPI molecular_function
GO:0048407 platelet-derived growth f
actor binding
IDA molecular_function
GO:0048407 platelet-derived growth f
actor binding
IDA molecular_function
GO:0048557 embryonic digestive tract
morphogenesis
ISS biological_process
GO:0048701 embryonic cranial skeleto
n morphogenesis
ISS biological_process
GO:0048704 embryonic skeletal system
morphogenesis
ISS biological_process
GO:0050920 regulation of chemotaxis
IMP biological_process
GO:0055003 cardiac myofibril assembl
y
ISS biological_process
GO:0060326 cell chemotaxis
IMP biological_process
GO:0061298 retina vasculature develo
pment in camera-type eye
ISS biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IMP biological_process
GO:0070527 platelet aggregation
IMP biological_process
GO:0072277 metanephric glomerular ca
pillary formation
ISS biological_process
GO:2000249 regulation of actin cytos
keleton reorganization
TAS biological_process
GO:2000739 regulation of mesenchymal
stem cell differentiatio
n
IMP biological_process
GO:0000165 MAPK cascade
TAS biological_process
GO:0001553 luteinization
ISS biological_process
GO:0001775 cell activation
TAS biological_process
GO:0004672 protein kinase activity
IDA molecular_function
GO:0004714 transmembrane receptor pr
otein tyrosine kinase act
ivity
IDA molecular_function
GO:0005018 platelet-derived growth f
actor alpha-receptor acti
vity
IDA molecular_function
GO:0005018 platelet-derived growth f
actor alpha-receptor acti
vity
IDA molecular_function
GO:0005018 platelet-derived growth f
actor alpha-receptor acti
vity
IMP molecular_function
GO:0005018 platelet-derived growth f
actor alpha-receptor acti
vity
IDA molecular_function
GO:0005021 vascular endothelial grow
th factor-activated recep
tor activity
IDA molecular_function
GO:0005088 Ras guanyl-nucleotide exc
hange factor activity
TAS molecular_function
GO:0005161 platelet-derived growth f
actor receptor 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:0005634 nucleus
ISS cellular_component
GO:0005737 cytoplasm
ISS 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:0005887 integral component of pla
sma membrane
IDA cellular_component
GO:0007204 positive regulation of cy
tosolic calcium ion conce
ntration
IMP biological_process
GO:0008284 positive regulation of ce
ll proliferation
IMP biological_process
GO:0010544 negative regulation of pl
atelet activation
IDA biological_process
GO:0010863 positive regulation of ph
ospholipase C activity
IMP biological_process
GO:0014066 regulation of phosphatidy
linositol 3-kinase signal
ing
TAS biological_process
GO:0014068 positive regulation of ph
osphatidylinositol 3-kina
se signaling
TAS biological_process
GO:0016020 membrane
IDA cellular_component
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0018108 peptidyl-tyrosine phospho
rylation
IDA biological_process
GO:0030335 positive regulation of ce
ll migration
IMP biological_process
GO:0030335 positive regulation of ce
ll migration
IDA biological_process
GO:0031226 intrinsic component of pl
asma membrane
IDA cellular_component
GO:0034614 cellular response to reac
tive oxygen species
IDA biological_process
GO:0035790 platelet-derived growth f
actor receptor-alpha sign
aling pathway
IMP biological_process
GO:0038085 vascular endothelial grow
th factor binding
IPI molecular_function
GO:0038091 positive regulation of ce
ll proliferation by VEGF-
activated platelet derive
d growth factor receptor
signaling pathway
IDA biological_process
GO:0042060 wound healing
ISS biological_process
GO:0042803 protein homodimerization
activity
IDA molecular_function
GO:0043234 protein complex
IDA cellular_component
GO:0043552 positive regulation of ph
osphatidylinositol 3-kina
se activity
IMP biological_process
GO:0045740 positive regulation of DN
A replication
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046777 protein autophosphorylati
on
IDA biological_process
GO:0046934 phosphatidylinositol-4,5-
bisphosphate 3-kinase act
ivity
TAS molecular_function
GO:0048008 platelet-derived growth f
actor receptor signaling
pathway
IDA biological_process
GO:0048008 platelet-derived growth f
actor receptor signaling
pathway
IDA biological_process
GO:0048015 phosphatidylinositol-medi
ated signaling
IMP biological_process
GO:0048015 phosphatidylinositol-medi
ated signaling
TAS biological_process
GO:0048146 positive regulation of fi
broblast proliferation
IDA biological_process
GO:0048407 platelet-derived growth f
actor binding
IPI molecular_function
GO:0048407 platelet-derived growth f
actor binding
IPI molecular_function
GO:0048407 platelet-derived growth f
actor binding
IDA molecular_function
GO:0048407 platelet-derived growth f
actor binding
IDA molecular_function
GO:0048557 embryonic digestive tract
morphogenesis
ISS biological_process
GO:0048701 embryonic cranial skeleto
n morphogenesis
ISS biological_process
GO:0048704 embryonic skeletal system
morphogenesis
ISS biological_process
GO:0050920 regulation of chemotaxis
IMP biological_process
GO:0055003 cardiac myofibril assembl
y
ISS biological_process
GO:0060326 cell chemotaxis
IMP biological_process
GO:0061298 retina vasculature develo
pment in camera-type eye
ISS biological_process
GO:0070374 positive regulation of ER
K1 and ERK2 cascade
IMP biological_process
GO:0070527 platelet aggregation
IMP biological_process
GO:0072277 metanephric glomerular ca
pillary formation
ISS biological_process
GO:2000249 regulation of actin cytos
keleton reorganization
TAS biological_process
GO:2000739 regulation of mesenchymal
stem cell differentiatio
n
IMP biological_process

KEGG pathways

hsa05200  Pathways in cancer
hsa04151  PI3K-Akt signaling pathway
hsa04060  Cytokine-cytokine receptor interaction
hsa05206  MicroRNAs in cancer
hsa05166  HTLV-I infection
hsa04010  MAPK signaling pathway
hsa04015  Rap1 signaling pathway
hsa04014  Ras signaling pathway
hsa04510  Focal adhesion
hsa04810  Regulation of actin cytoskeleton
hsa04144  Endocytosis
hsa05215  Prostate cancer
hsa01521  EGFR tyrosine kinase inhibitor resistance
hsa04072  Phospholipase D signaling pathway
hsa05218  Melanoma
hsa05230  Central carbon metabolism in cancer
hsa04020  Calcium signaling pathway
hsa05231  Choline metabolism in cancer
hsa05214  Glioma
hsa04540  Gap junction

Diseases

Associated diseases References
Alzheimer's disease PMID: 19141999
Asthma PMID: 16804324
Astigmatism PMID: 22144915
Bipolar disorder PMID: 19416921
Cancer PMID: 16135486
Chronic eosinophilic leukemia KEGG: H01590
Gastrotintestinal stromal tumor KEGG: H01591
Glioma KEGG: H00042
Hypereosinophilic syndrome KEGG: H01599, OMIM: 173490
Neural tube defects PMID: 11175793
Ovarian endometriosis INFBASE16815388
Endometriosis INFBASE15299092
Ovarian endometriosis PMID: 16815388
Spinal dysraphism PMID: 19215021

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
15299092 Endometrio
sis


PDGFRA
PKC beta1
JAK1
Sprouty2
MKK7
COUP-TF2
PGE2EP
Show abstract
16815388 Endometrio
sis (ovari
an)


PDGFRA
PKCbeta1
JAK1
HSP90A
COUP-TF2
MOR
17betaHSD2
Sprouty2 and PGE(2)EP3
Show abstract