Gene: PLCB4

Alternate names for this Gene: ARCND2|PI-PLC

Gene Summary: The protein encoded by this gene catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate. This reaction uses calcium as a cofactor and plays an important role in the intracellular transduction of many extracellular signals in the retina. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 20

Location in Chromosome : 20p12.3-p12.2

Description of this Gene: phospholipase C beta 4

Type of Gene: protein-coding

rs387907179 in PLCB4 gene and AURICULOCONDYLAR SYNDROME 2 PMID 22560091 2012 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

PMID 23315542 2013 Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

rs387907179 in PLCB4 gene and Auriculocondylar syndrome 1 PMID 22560091 2012 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

rs2299682 in PLCB4 gene and Bipolar Disorder PMID 29064472 2017 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study.

rs2327129 in PLCB4 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs397514481 in PLCB4 gene and Dysmorphic features PMID 18314001 2008 Question mark ears and post-auricular tags.

PMID 22560091 2012 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

PMID 16114046 2005 Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.

PMID 23315542 2013 Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

PMID 28328130 2017 Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

PMID 27007857 2016 Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

rs397514481 in PLCB4 gene and Multiple congenital anomalies PMID 23315542 2013 Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

PMID 28328130 2017 Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

PMID 22560091 2012 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

PMID 27007857 2016 Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

PMID 18314001 2008 Question mark ears and post-auricular tags.

PMID 16114046 2005 Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.

rs397514481 in PLCB4 gene and Muscle hypotonia PMID 23315542 2013 Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.

PMID 18314001 2008 Question mark ears and post-auricular tags.

PMID 27007857 2016 Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.

PMID 16114046 2005 Auriculo-condylar syndrome is associated with highly variable ear and mandibular defects in multiple kindreds.

PMID 28328130 2017 Targeted molecular investigation in patients within the clinical spectrum of Auriculocondylar syndrome.

PMID 22560091 2012 A human homeotic transformation resulting from mutations in PLCB4 and GNAI3 causes auriculocondylar syndrome.

rs2072910 in PLCB4 gene and Neutrophil count (procedure) PMID 20172861 2010 The subjects who were homozygous for 'neutrophil-increasing alleles' in both of the SNPs (T alleles for rs4794822 and rs2072910) had 1.17-fold (95% confidence interval: 1.10-1.24) higher neutrophil count when compared with the subjects homozygous for 'neutrophil-decreasing alleles' (C alleles for rs4794822 and rs2072910).

rs2299682 in PLCB4 gene and Schizoaffective Disorder PMID 29064472 2017 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study.

rs2299682 in PLCB4 gene and Schizophrenia PMID 29064472 2017 Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study.