PLCB4 Chromosome 20
Phospholipase C beta 4
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What This Gene Does
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. [provided by RefSeq, Feb 2010]
Gene Info
Gene Group
"Phospholipases|C2 domain containing phospholipases"
Locus Type
gene with protein product
Location
20p12.3-p12.2
Ensembl
ENSG00000101333
Associated Conditions (7)
Auriculocondylar syndrome 2
Inborn genetic diseases
Auriculocondylar syndrome 1
Auriculocondylar syndrome
Uveal melanoma
Ocular melanocytosis
Abnormal facial shape
Key Variants
RS140050954
Conflicting classifications of pathogenicity
Auriculocondylar syndrome 2, Inborn genetic diseases, Auriculocondylar syndrome 2
Health Risk
RS143225778
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS147655952
Conflicting classifications of pathogenicity
Auriculocondylar syndrome 2, Inborn genetic diseases, Auriculocondylar syndrome 2
Health Risk
RS202045972
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2515491013
Conflicting classifications of pathogenicity
Auriculocondylar syndrome 2, Auriculocondylar syndrome 2
Health Risk
RS369233949
Conflicting classifications of pathogenicity
Auriculocondylar syndrome 2, Inborn genetic diseases, Auriculocondylar syndrome 2
Health Risk
RS530479821
Conflicting classifications of pathogenicity
Auriculocondylar syndrome 2, Inborn genetic diseases, Auriculocondylar syndrome 2
Health Risk
RS537756121
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS779018136
Conflicting classifications of pathogenicity
Auriculocondylar syndrome 2, Inborn genetic diseases, Auriculocondylar syndrome 2
Health Risk
RS1057521489
Likely pathogenic
Health Risk
RS1224639550
Likely pathogenic
Health Risk
RS1555839474
Likely pathogenic
Health Risk
All Variants (25)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS140050954 | Health Risk | Conflicting classifications of pathogenicity | Auriculocondylar syndrome 2, Inborn genetic diseases, Auriculocondylar syndrome 2 |
| RS143225778 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS147655952 | Health Risk | Conflicting classifications of pathogenicity | Auriculocondylar syndrome 2, Inborn genetic diseases, Auriculocondylar syndrome 2 |
| RS202045972 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2515491013 | Health Risk | Conflicting classifications of pathogenicity | Auriculocondylar syndrome 2, Auriculocondylar syndrome 2 |
| RS369233949 | Health Risk | Conflicting classifications of pathogenicity | Auriculocondylar syndrome 2, Inborn genetic diseases, Auriculocondylar syndrome 2 |
| RS530479821 | Health Risk | Conflicting classifications of pathogenicity | Auriculocondylar syndrome 2, Inborn genetic diseases, Auriculocondylar syndrome 2 |
| RS537756121 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS779018136 | Health Risk | Conflicting classifications of pathogenicity | Auriculocondylar syndrome 2, Inborn genetic diseases, Auriculocondylar syndrome 2 |
| RS1057521489 | Health Risk | Likely pathogenic | — |
| RS1224639550 | Health Risk | Likely pathogenic | — |
| RS1555839474 | Health Risk | Likely pathogenic | — |
| RS2037778050 | Health Risk | Likely pathogenic | Auriculocondylar syndrome 2, Auriculocondylar syndrome 2 |
| RS2515454786 | Health Risk | Likely pathogenic | — |
| RS2516002006 | Health Risk | Pathogenic | Auriculocondylar syndrome 2, Auriculocondylar syndrome 2 |
| RS387907179 | Health Risk | Pathogenic | Auriculocondylar syndrome 2, Auriculocondylar syndrome 1, Auriculocondylar syndrome 2 |
| RS397514480 | Health Risk | Pathogenic | Auriculocondylar syndrome 2, Auriculocondylar syndrome 1, Auriculocondylar syndrome 2 |
| RS397514481 | Health Risk | Pathogenic | Auriculocondylar syndrome 2, Auriculocondylar syndrome 1, Inborn genetic diseases |
| RS397514482 | Health Risk | Pathogenic | Auriculocondylar syndrome 2, Auriculocondylar syndrome 1, Auriculocondylar syndrome 2 |
| RS397514483 | Health Risk | Pathogenic | Auriculocondylar syndrome 2, Auriculocondylar syndrome 1, Auriculocondylar syndrome 2 |
| RS397514769 | Health Risk | Pathogenic | Auriculocondylar syndrome 2, Auriculocondylar syndrome 2 |
| RS397514770 | Health Risk | Pathogenic | Auriculocondylar syndrome 2, Auriculocondylar syndrome 2 |
| RS397514771 | Health Risk | Pathogenic | Auriculocondylar syndrome 2, Auriculocondylar syndrome 2 |
| RS758685931 | Health Risk | Pathogenic | — |
| RS1568763104 | Health Risk | Pathogenic/Likely pathogenic | Uveal melanoma, Ocular melanocytosis, Auriculocondylar syndrome 2 |