Property Summary

NCBI Gene PubMed Count 38
Grant Count 81
R01 Count 50
Funding $9,360,069.16
PubMed Score 54.82
PubTator Score 29.67

Knowledge Summary

Patent

No data available

Expression

Synonym

Gene

 GWAS Trait (1)

Gene RIF (27)

PMID Text
26683228 recurrent mutation in PLCB4 is associated with uveal melanoma.
26434682 Polymorphism of the PLCB4/B1 genes might be involved in the coronary artery aneurysm pathogenesis of Kawasaki disease.
24475116 Phospholipase C-beta1 and beta4 contribute to non-genetic cell-to-cell variability in histamine-induced calcium signals in HeLa cells.
24296361 This study demonistrated by Gene expression profile that PLCB4 upregulaion in fibroblasts of Huntington's disease patients.
23913798 Auriculocondylar syndrome is caused by PLCB4 mutations inherited not only in an autosomal dominant manner (catalytic domain missense mutations) but also inherited as autosomal recessive (complete loss of function).
23006664 PLCbeta4 is enriched at the plasma membrane.
22560091 The phenotypic variability of auriculocondylar syndrome suggests that mutations in this pathway, especially those affecting core signaling molecules such as PLCB4 and GNAI3, should be considered as potential candidates for other ear and jaw malformations.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20554694 Observational study of gene-disease association. (HuGE Navigator)
20398908 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MAKPYEFNWQKEVPSFLQEGAVFDRYEEESFVFEPNCLFKVDEFGFFLTWRSEGKEGQVLECSLINSIRS      1 - 70
GAIPKDPKILAALEAVGKSENDLEGRIVCVCSGTDLVNISFTYMVAENPEVTKQWVEGLRSIIHNFRANN     71 - 140
VSPMTCLKKHWMKLAFMTNTNGKIPVRSITRTFASGKTEKVIFQALKELGLPSGKNDEIEPTAFSYEKFY    141 - 210
ELTQKICPRTDIEDLFKKINGDKTDYLTVDQLVSFLNEHQRDPRLNEILFPFYDAKRAMQIIEMYEPDED    211 - 280
LKKKGLISSDGFCRYLMSDENAPVFLDRLELYQEMDHPLAHYFISSSHNTYLTGRQFGGKSSVEMYRQVL    281 - 350
LAGCRCVELDCWDGKGEDQEPIITHGKAMCTDILFKDVIQAIKETAFVTSEYPVILSFENHCSKYQQYKM    351 - 420
SKYCEDLFGDLLLKQALESHPLEPGRALPSPNDLKRKILIKNKRLKPEVEKKQLEALRSMMEAGESASPA    421 - 490
NILEDDNEEEIESADQEEEAHPEFKFGNELSADDLGHKEAVANSVKKGLVTVEDEQAWMASYKYVGATTN    491 - 560
IHPYLSTMINYAQPVKFQGFHVAEERNIHYNMSSFNESVGLGYLKTHAIEFVNYNKRQMSRIYPKGGRVD    561 - 630
SSNYMPQIFWNAGCQMVSLNYQTPDLAMQLNQGKFEYNGSCGYLLKPDFMRRPDRTFDPFSETPVDGVIA    631 - 700
ATCSVQVISGQFLSDKKIGTYVEVDMYGLPTDTIRKEFRTRMVMNNGLNPVYNEESFVFRKVILPDLAVL    701 - 770
RIAVYDDNNKLIGQRILPLDGLQAGYRHISLRNEGNKPLSLPTIFCNIVLKTYVPDGFGDIVDALSDPKK    771 - 840
FLSITEKRADQMRAMGIETSDIADVPSDTSKNDKKGKANTAKANVTPQSSSELRPTTTAALASGVEAKKG    841 - 910
IELIPQVRIEDLKQMKAYLKHLKKQQKELNSLKKKHAKEHSTMQKLHCTQVDKIVAQYDKEKSTHEKILE    911 - 980
KAMKKKGGSNCLEMKKETEIKIQTLTSDHKSKVKEIVAQHTKEWSEMINTHSAEEQEIRDLHLSQQCELL    981 - 1050
KKLLINAHEQQTQQLKLSHDRESKEMRAHQAKISMENSKAISQDKSIKNKAERERRVRELNSSNTKKFLE   1051 - 1120
ERKRLAMKQSKEMDQLKKVQLEHLEFLEKQNEQAKEMQQMVKLEAEMDRRPATVV                  1121 - 1175
//

Text Mined References (40)

PMID Year Title
26683228 2016 Deep sequencing of uveal melanoma identifies a recurrent mutation in PLCB4.
26434682 2015 Genetic variants in PLCB4/PLCB1 as susceptibility loci for coronary artery aneurysm formation in Kawasaki disease in Han Chinese in Taiwan.
25416956 2014 A proteome-scale map of the human interactome network.
24475116 2014 Phospholipase C-?1 and ?4 contribute to non-genetic cell-to-cell variability in histamine-induced calcium signals in HeLa cells.
24296361 2014 Gene expression profile in fibroblasts of Huntington's disease patients and controls.
23913798 2013 Further characterization of atypical features in auriculocondylar syndrome caused by recessive PLCB4 mutations.
23006664 2013 PLC? isoforms differ in their subcellular location and their CT-domain dependent interaction with G?q.
22560091 2012 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
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