PLCB4
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Summary
PLCB4 (phospholipase C beta 4, HGNC:9059) is a protein-coding gene on chromosome 20p12.3-p12.2, encoding 1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 (Q15147). Activated phosphatidylinositol-specific phospholipase C enzymes catalyze the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) involved in G-protein coupled receptor signaling pathways.
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.
Source: NCBI Gene 5332 — RefSeq curated summary.
At a glance
- Gene–disease (curated): auriculocondylar syndrome 2 (Definitive, ClinGen) — +2 more curated relationships
- GWAS associations: 7
- Clinical variants (ClinVar): 387 total — 16 pathogenic, 11 likely-pathogenic
- Phenotypes (HPO): 66
- MANE Select transcript:
NM_001377142
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9059 |
| Approved symbol | PLCB4 |
| Name | phospholipase C beta 4 |
| Location | 20p12.3-p12.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000101333 |
| Ensembl biotype | protein_coding |
| OMIM | 600810 |
| Entrez | 5332 |
Gene structure
Transcript identifiers
Ensembl transcripts: 71 — 49 protein_coding, 9 retained_intron, 8 nonsense_mediated_decay, 5 protein_coding_CDS_not_defined
ENST00000278655, ENST00000378473, ENST00000378493, ENST00000378501, ENST00000407043, ENST00000414679, ENST00000416836, ENST00000437503, ENST00000441846, ENST00000464199, ENST00000473151, ENST00000482123, ENST00000492632, ENST00000684997, ENST00000685110, ENST00000685148, ENST00000685298, ENST00000685310, ENST00000685446, ENST00000685482, ENST00000685568, ENST00000685823, ENST00000685859, ENST00000686117, ENST00000686163, ENST00000686253, ENST00000686313, ENST00000686532, ENST00000686584, ENST00000686789, ENST00000686871, ENST00000686893, ENST00000686976, ENST00000687147, ENST00000687299, ENST00000687446, ENST00000687765, ENST00000688049, ENST00000688325, ENST00000688465, ENST00000688656, ENST00000688837, ENST00000689010, ENST00000689392, ENST00000689588, ENST00000689910, ENST00000689976, ENST00000690729, ENST00000690960, ENST00000691007, ENST00000691048, ENST00000691112, ENST00000692085, ENST00000692395, ENST00000693005, ENST00000693090, ENST00000693160, ENST00000693492, ENST00000693502, ENST00000693544, ENST00000693752, ENST00000920652, ENST00000920653, ENST00000920654, ENST00000946817, ENST00000946818, ENST00000946819, ENST00000946820, ENST00000946821, ENST00000946822, ENST00000946823
RefSeq mRNA: 8 — MANE Select: NM_001377142
NM_000933, NM_001172646, NM_001377134, NM_001377135, NM_001377136, NM_001377142, NM_001377143, NM_182797
CCDS: CCDS13104, CCDS13105, CCDS54447, CCDS93005
Canonical transcript exons
ENST00000378473 — 40 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001357789 | 9217390 | 9217452 |
| ENSE00001682909 | 9069087 | 9069206 |
| ENSE00001741784 | 9096287 | 9096342 |
| ENSE00003461608 | 9453347 | 9453462 |
| ENSE00003463323 | 9393588 | 9393678 |
| ENSE00003468763 | 9411037 | 9411088 |
| ENSE00003468971 | 9407917 | 9408058 |
| ENSE00003481247 | 9338008 | 9338067 |
| ENSE00003487058 | 9473279 | 9473365 |
| ENSE00003488967 | 9444178 | 9444243 |
| ENSE00003494218 | 9457414 | 9457489 |
| ENSE00003497558 | 9307800 | 9307898 |
| ENSE00003503832 | 9423748 | 9423952 |
| ENSE00003507077 | 9435560 | 9435648 |
| ENSE00003507933 | 9421297 | 9421461 |
| ENSE00003522644 | 9373047 | 9373104 |
| ENSE00003523380 | 9365461 | 9365514 |
| ENSE00003525699 | 9476717 | 9476753 |
| ENSE00003526265 | 9371214 | 9371295 |
| ENSE00003553442 | 9337126 | 9337206 |
| ENSE00003561687 | 9390531 | 9390615 |
| ENSE00003565542 | 9395523 | 9395618 |
| ENSE00003568651 | 9380054 | 9380162 |
| ENSE00003580943 | 9468571 | 9468672 |
| ENSE00003582948 | 9409057 | 9409181 |
| ENSE00003588375 | 9372303 | 9372403 |
| ENSE00003598957 | 9338894 | 9339037 |
| ENSE00003609650 | 9405313 | 9405348 |
| ENSE00003621309 | 9437002 | 9437152 |
| ENSE00003630301 | 9459635 | 9459810 |
| ENSE00003631620 | 9401490 | 9401590 |
| ENSE00003639797 | 9443981 | 9444030 |
| ENSE00003640552 | 9472790 | 9472847 |
| ENSE00003642199 | 9408633 | 9408717 |
| ENSE00003649758 | 9387463 | 9387556 |
| ENSE00003654783 | 9362896 | 9362975 |
| ENSE00003655280 | 9389879 | 9389958 |
| ENSE00003655995 | 9384201 | 9384411 |
| ENSE00003670085 | 9419807 | 9419909 |
| ENSE00003906295 | 9478921 | 9480808 |
Expression profiles
Bgee: expression breadth ubiquitous, 273 present calls, max score 97.37.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 18.7461 / max 1049.4137, expressed in 1128 samples.
FANTOM5 promoters (20 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 183442 | 5.2154 | 996 |
| 183444 | 4.0258 | 434 |
| 183443 | 2.8306 | 407 |
| 183445 | 1.7690 | 311 |
| 183447 | 1.3677 | 398 |
| 183439 | 1.3170 | 582 |
| 183441 | 0.8541 | 389 |
| 183446 | 0.3953 | 184 |
| 183440 | 0.3345 | 218 |
| 183475 | 0.2825 | 111 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| parotid gland | UBERON:0001831 | 97.37 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.18 | gold quality |
| sural nerve | UBERON:0015488 | 95.30 | gold quality |
| bronchial epithelial cell | CL:0002328 | 92.78 | gold quality |
| cerebellar cortex | UBERON:0002129 | 92.10 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 92.04 | gold quality |
| cerebellum | UBERON:0002037 | 91.83 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 91.78 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 91.61 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 91.10 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 90.80 | gold quality |
| colonic mucosa | UBERON:0000317 | 90.79 | gold quality |
| bronchus | UBERON:0002185 | 90.38 | gold quality |
| blood vessel layer | UBERON:0004797 | 90.14 | gold quality |
| cerebellar vermis | UBERON:0004720 | 89.65 | gold quality |
| colonic epithelium | UBERON:0000397 | 89.07 | gold quality |
| pigmented layer of retina | UBERON:0001782 | 88.68 | gold quality |
| retina | UBERON:0000966 | 88.65 | gold quality |
| pons | UBERON:0000988 | 88.41 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 88.06 | gold quality |
| corpus epididymis | UBERON:0004359 | 87.52 | gold quality |
| rectum | UBERON:0001052 | 87.32 | gold quality |
| urethra | UBERON:0000057 | 87.10 | gold quality |
| right uterine tube | UBERON:0001302 | 87.01 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 86.73 | gold quality |
| caput epididymis | UBERON:0004358 | 86.60 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 86.57 | gold quality |
| nasal cavity mucosa | UBERON:0001826 | 86.51 | gold quality |
| buccal mucosa cell | CL:0002336 | 86.33 | gold quality |
| mucosa of stomach | UBERON:0001199 | 85.91 | gold quality |
Single-cell (SCXA)
Detected in 12 experiment(s), a significant marker in 11.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-7316 | yes | 702.22 |
| E-MTAB-8410 | yes | 358.79 |
| E-MTAB-10287 | yes | 66.73 |
| E-MTAB-6701 | yes | 30.75 |
| E-GEOD-137537 | yes | 16.30 |
| E-ANND-3 | yes | 16.14 |
| E-HCAD-25 | yes | 11.84 |
| E-GEOD-81547 | yes | 11.74 |
| E-ENAD-27 | yes | 10.26 |
| E-HCAD-35 | yes | 9.72 |
| E-GEOD-83139 | yes | 8.76 |
| E-MTAB-10290 | no | 209.96 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): CTCF, PAX6, RORA
miRNA regulators (miRDB)
118 targeting PLCB4, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-3924 | 100.00 | 72.09 | 2394 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-4789-3P | 99.99 | 70.75 | 2484 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-371A-3P | 99.99 | 66.77 | 91 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-3692-3P | 99.98 | 70.27 | 2139 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-548AN | 99.97 | 70.91 | 2817 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-557 | 99.96 | 70.01 | 1640 |
| HSA-MIR-1468-3P | 99.96 | 72.74 | 3797 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-96-5P | 99.95 | 72.80 | 2140 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
Literature-anchored findings (GeneRIF, showing 19)
- Presence of PLCbeta(4) in the heart and in HL-1 cardiomyocytes showing a different species-dependent pattern of expression of the PLCbeta((1-4)) transcripts. (PMID:19856080)
- The significant contribution of PSMD3-CSF3 and PLCB4 loci to the regulation of neutrophil count, is demonstrated. (PMID:20172861)
- 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. (PMID:22560091)
- PLCbeta4 is enriched at the plasma membrane. (PMID:23006664)
- 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). (PMID:23913798)
- This study demonistrated by Gene expression profile that PLCB4 upregulaion in fibroblasts of Huntington’s disease patients. (PMID:24296361)
- Phospholipase C-beta1 and beta4 contribute to non-genetic cell-to-cell variability in histamine-induced calcium signals in HeLa cells. (PMID:24475116)
- Polymorphism of the PLCB4/B1 genes might be involved in the coronary artery aneurysm pathogenesis of Kawasaki disease. (PMID:26434682)
- Dysregulation of primary PLC signaling is linked to several brain disorders including epilepsy, schizophrenia, bipolar disorder, Huntington’s disease, depression and Alzheimer’s disease. (Review) (PMID:26639088)
- recurrent mutation in PLCB4 is associated with uveal melanoma. (PMID:26683228)
- Our observations of this case further delineate the phenotype of ACS associated with autosomal recessive PLCB4 loss-of-function mutations, underscoring gastrointestinal dysfunction and severe sleep-related breathing abnormalities as additional features when compared to patients with heterozygous mutations with a presumed dominant negative effect. (PMID:27007857)
- PLCB4 copy gain and PLCB4 overexpression is associated with gastrointestinal stromal tumors. (PMID:28212550)
- Novel pathogenic variants in PLCB4 have been found in two of three index patients with typical Auriculocondylar syndrome. (PMID:28328130)
- Mutations of GNAQ, GNA11, SF3B1, EIF1AX, PLCB4 and CYSLTR in Uveal Melanoma in Chinese Patients. (PMID:31614358)
- A familial PLCB4 mutation causing auriculocondylar syndrome 2 with variable severity. (PMID:32201334)
- The Polymorphism at PLCB4 Promoter (rs6086746) Changes the Binding Affinity of RUNX2 and Affects Osteoporosis Susceptibility: An Analysis of Bioinformatics-Based Case-Control Study and Functional Validation. (PMID:34899595)
- Uveal melanoma-associated mutations in PLCbeta4 are constitutively activating and promote melanocyte proliferation and tumorigenesis. (PMID:34905385)
- Auriculocondylar syndrome 2 results from the dominant-negative action of PLCB4 variants. (PMID:35284927)
- Interaction between MARK3 (rs11623869), PLCB4 (rs6086746) and GEMIN2 (rs2277458) variants with bone mineral density and serum 25-hidroxivitamin D levels in Mexican Mestizo women. (PMID:38715801)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | PLCB4 | ENSDARG00000100786 |
| mus_musculus | Plcb4 | ENSMUSG00000039943 |
| rattus_norvegicus | Plcb4 | ENSRNOG00000033119 |
| drosophila_melanogaster | norpA | FBGN0262738 |
| caenorhabditis_elegans | WBGENE00001177 |
Paralogs (14): PLCH1 (ENSG00000114805), PLCD4 (ENSG00000115556), PLCL1 (ENSG00000115896), PLCG1 (ENSG00000124181), PLCB2 (ENSG00000137841), PLCE1 (ENSG00000138193), PLCZ1 (ENSG00000139151), PLCH2 (ENSG00000149527), PLCB3 (ENSG00000149782), PLCL2 (ENSG00000154822), PLCD3 (ENSG00000161714), PLCB1 (ENSG00000182621), PLCD1 (ENSG00000187091), PLCG2 (ENSG00000197943)
Protein
Protein identifiers
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4 — Q15147 (reviewed: Q15147)
Alternative names: Phosphoinositide phospholipase C-beta-4, Phospholipase C-beta-4
All UniProt accessions (28): Q15147, A0A7P0MRI8, A0A8I5KPD4, A0A8I5KPQ9, A0A8I5KQ87, A0A8I5KQF5, A0A8I5KQI1, A0A8I5KQZ0, A0A8I5KR92, A0A8I5KRA0, A0A8I5KRK2, A0A8I5KRP3, A0A8I5KS50, A0A8I5KVM8, A0A8I5KW09, A0A8I5KWR8, A0A8I5KX58, A0A8I5KX82, A0A8I5KXD7, A0A8I5KXT9, A0A8I5KXW3, A0A8I5KYY7, A0A8I5QJ53, A0A8I5QJE7, A0A8I5QL35, A0A8J8Z831, B1AJW1, B1AJW3
UniProt curated annotations — full annotation on UniProt →
Function. Activated phosphatidylinositol-specific phospholipase C enzymes catalyze the production of the second messenger molecules diacylglycerol (DAG) and inositol 1,4,5-trisphosphate (IP3) involved in G-protein coupled receptor signaling pathways. PLCB4 is a direct effector of the endothelin receptor signaling pathway that plays an essential role in lower jaw and middle ear structures development.
Subcellular location. Cell membrane.
Tissue specificity. Preferentially expressed in the retina.
Disease relevance. Auriculocondylar syndrome 2A (ARCND2A) [MIM:614669] An autosomal dominant form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. The disease is caused by variants affecting the gene represented in this entry. Auriculocondylar syndrome 2B (ARCND2B) [MIM:620458] An autosomal recessive form of auriculocondylar syndrome, a craniofacial malformation syndrome characterized by variable mandibular anomalies, including mild to severe micrognathia, temporomandibular joint ankylosis, cleft palate, and a characteristic ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark (question-mark ear). Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. Glossoptosis, masticatory abnormalities, orthodontic problems, and malocclusion occur in a majority of affected subjects. The disease is caused by variants affecting the gene represented in this entry.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q15147-1 | 2 | yes |
| Q15147-2 | 1 | |
| Q15147-4 | 3 | |
| Q15147-5 | 4 |
RefSeq proteins (8): NP_000924, NP_001166117, NP_001364063, NP_001364064, NP_001364065, NP_001364071, NP_001364072, NP_877949 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000008 | C2_dom | Domain |
| IPR000909 | PLipase_C_PInositol-sp_X_dom | Domain |
| IPR001192 | PI-PLC_fam | Family |
| IPR001711 | PLipase_C_Pinositol-sp_Y | Domain |
| IPR011992 | EF-hand-dom_pair | Homologous_superfamily |
| IPR014815 | PLC-beta_C | Domain |
| IPR016280 | PLC-beta | Family |
| IPR017946 | PLC-like_Pdiesterase_TIM-brl | Homologous_superfamily |
| IPR035892 | C2_domain_sf | Homologous_superfamily |
| IPR037862 | PLC-beta_PH | Domain |
| IPR042531 | PLC-beta_C_sf | Homologous_superfamily |
| IPR053945 | PLCB1-4-like_EFh | Domain |
Pfam: PF00168, PF00387, PF00388, PF08703, PF17787, PF22631
Enzyme classification (BRENDA):
- EC 3.1.4.11 — phosphoinositide phospholipase C (BRENDA: 69 organisms, 175 substrates, 159 inhibitors, 27 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
5 substrates with measured Km, best-characterized 5. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| 1-PHOSPHATIDYL-1D-MYO-INOSITOL 4,5-BISPHOSPHATE | 0.006–0.45 | 8 |
| PHOSPHATIDYLINOSITOL | 0.012–100 | 7 |
| 1-PHOSPHATIDYL-1D-MYO-INOSITOL | 0.058–18.7 | 6 |
| PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE | 0.031–0.182 | 3 |
| PHOSPHATIDYLINOSITOL 4-PHOSPHATE | 0.031 | 1 |
Catalyzed reactions (Rhea), 2 shown:
- a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = 1D-myo-inositol 1,4,5-trisphosphate + a 1,2-diacyl-sn-glycerol + H(+) (RHEA:33179)
- a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + H2O = 1D-myo-inositol 1-phosphate + a 1,2-diacyl-sn-glycerol + H(+) (RHEA:43484)
UniProt features (40 total): sequence variant 15, sequence conflict 5, compositionally biased region 4, splice variant 4, domain 3, region of interest 3, active site 2, modified residue 2, initiator methionine 1, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q15147-F1 | 86.03 | 0.65 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 328; 375
Post-translational modifications (2): 2, 886
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-112043 | PLC beta mediated events |
| R-HSA-1855204 | Synthesis of IP3 and IP4 in the cytosol |
| R-HSA-416476 | G alpha (q) signalling events |
MSigDB gene sets: 407 (showing top):
GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, BROWNE_HCMV_INFECTION_6HR_DN, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, DACOSTA_UV_RESPONSE_VIA_ERCC3_XPCS_DN, SASAI_TARGETS_OF_CXCR6_AND_PTCH1_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GGGCATT_MIR365, DAWSON_METHYLATED_IN_LYMPHOMA_TCL1, GOBP_MAINTENANCE_OF_LOCATION, ROZANOV_MMP14_TARGETS_UP, KEGG_HUNTINGTONS_DISEASE, GOBP_GLYCEROPHOSPHOLIPID_METABOLIC_PROCESS
GO Biological Process (10): G protein-coupled receptor signaling pathway (GO:0007186), lipid catabolic process (GO:0016042), phosphatidylinositol metabolic process (GO:0046488), phosphatidylinositol-mediated signaling (GO:0048015), release of sequestered calcium ion into cytosol (GO:0051209), phospholipase C-activating endothelin receptor signaling pathway (GO:0160135), lipid metabolic process (GO:0006629), signal transduction (GO:0007165), intracellular signal transduction (GO:0035556), modulation of chemical synaptic transmission (GO:0050804)
GO Molecular Function (8): phosphatidylinositol-4,5-bisphosphate phospholipase C activity (GO:0004435), C-type glycerophospholipase activity (GO:0004629), calcium ion binding (GO:0005509), phosphatidylinositol phospholipase C activity (GO:0120548), protein binding (GO:0005515), phosphoric diester hydrolase activity (GO:0008081), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)
GO Cellular Component (11): cytosol (GO:0005829), plasma membrane (GO:0005886), nucleus (GO:0005634), smooth endoplasmic reticulum (GO:0005790), endomembrane system (GO:0012505), postsynaptic density (GO:0014069), membrane (GO:0016020), dendrite (GO:0030425), parallel fiber to Purkinje cell synapse (GO:0098688), postsynapse (GO:0098794), glutamatergic synapse (GO:0098978)
Reactome top-level categories
Rollup of top-3 pathways:
| Category | Pathways |
|---|---|
| G-protein mediated events | 1 |
| Inositol phosphate metabolism | 1 |
| GPCR downstream signalling | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| signal transduction | 2 |
| C-type glycerophospholipase activity | 2 |
| synapse | 2 |
| G protein-coupled receptor activity | 1 |
| lipid metabolic process | 1 |
| catabolic process | 1 |
| phosphorus metabolic process | 1 |
| intracellular signal transduction | 1 |
| intercellular transport | 1 |
| calcium ion transmembrane import into cytosol | 1 |
| phospholipase C-activating G protein-coupled receptor signaling pathway | 1 |
| endothelin receptor signaling pathway | 1 |
| primary metabolic process | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| intracellular anatomical structure | 1 |
| chemical synaptic transmission | 1 |
| regulation of trans-synaptic signaling | 1 |
| glycerophospholipase activity | 1 |
| phosphoric diester hydrolase activity | 1 |
| metal ion binding | 1 |
| binding | 1 |
| phosphoric ester hydrolase activity | 1 |
| catalytic activity | 1 |
| cation binding | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| intracellular membrane-bounded organelle | 1 |
| endoplasmic reticulum | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
| asymmetric synapse | 1 |
| postsynaptic specialization | 1 |
| neuron projection | 1 |
| dendritic tree | 1 |
Protein interactions and networks
STRING
1440 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PLCB4 | GNA11 | P29992 | 736 |
| PLCB4 | GNAQ | P50148 | 736 |
| PLCB4 | CYSLTR2 | Q9NS75 | 721 |
| PLCB4 | EIF1AX | P47813 | 671 |
| PLCB4 | OPN4 | Q9UHM6 | 540 |
| PLCB4 | GNAI3 | P08754 | 514 |
| PLCB4 | GRM1 | Q13255 | 511 |
| PLCB4 | TRPC6 | Q9Y210 | 492 |
| PLCB4 | PLCB3 | Q01970 | 475 |
| PLCB4 | ITPR1 | Q14643 | 460 |
| PLCB4 | ADCY5 | O95622 | 454 |
| PLCB4 | GNA14 | O95837 | 452 |
| PLCB4 | BAP1 | Q92560 | 445 |
| PLCB4 | PRKCG | P05129 | 440 |
| PLCB4 | ZNF37A | P17032 | 429 |
IntAct
116 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PLCB4 | REL | psi-mi:“MI:0915”(physical association) | 0.560 |
| REL | PLCB4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLCB4 | MEOX2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLCB4 | PDZD7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LNX2 | PLCB4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | SNTB1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | MAGI3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | ARHGEF11 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | ARHGEF12 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | MAST1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAGI2 | PLCB4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | PATJ | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | DLG1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | DLG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | DLG2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | HTRA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | GORASP2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | NOS1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | SCRIB | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | SNTA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | PDZRN3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | GORASP1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| GOPC | PLCB4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| FRMPD2 | PLCB4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| PLCB4 | LNX1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TAMALIN | PLCB4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (39): REL (Two-hybrid), PLCB4 (Two-hybrid), PLCB4 (Affinity Capture-RNA), PLCB4 (Synthetic Lethality), MEOX2 (Two-hybrid), PLCB4 (Affinity Capture-MS), PLCB4 (Proximity Label-MS), PLCB4 (Proximity Label-MS), PLCB4 (Affinity Capture-MS), PLCB4 (Affinity Capture-MS), PLCB4 (Affinity Capture-MS), PLCB4 (Affinity Capture-MS), PLCB4 (Affinity Capture-MS), PLCB4 (Affinity Capture-MS), PLCB4 (Affinity Capture-MS)
ESM2 similar proteins: A0A075QQ08, A0A1D8EJF9, A0A1U8F5V2, A0A1U8GR65, A0A2J6L8Y7, A0A3Q7FGP1, A0A3Q7I7R4, A0A445AGS0, A0A7U2QYM2, A7KWF8, C6ZJZ3, C7SG33, D3UW26, K0P2S0, M1J8U6, M1JJT8, O23252, O60573, O77210, O81481, O81482, P0DXI0, P0DXI5, P10687, P10894, P29557, P48599, P48600, P48722, P97789, Q03389, Q0GRC4, Q15147, Q28GH3, Q3UTA9, Q4QXS7, Q4VQY1, Q4VQY3, Q5GFD8, Q642Q1
Diamond homologs: A2AP18, A3KGF7, A5D6R3, G5EBH0, G5EFI8, O75038, O89040, P10687, P10688, P10894, P10895, P21671, P25455, P51178, P51432, Q00722, Q01970, Q07722, Q15111, Q15147, Q1RML2, Q2VRL0, Q32NH8, Q3USB7, Q4KWH5, Q4KWH8, Q4R6L3, Q5FX52, Q5RET0, Q62688, Q62711, Q6NMA7, Q7YRU3, Q86YW0, Q8K2J0, Q8K394, Q8K3R3, Q8K4D7, Q8K4S1, Q8L706
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 77 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Ras activation upon Ca2+ influx through NMDA receptor | 6 | 64.6× | 2e-08 |
| Unblocking of NMDA receptors, glutamate binding and activation | 6 | 61.6× | 2e-08 |
| Negative regulation of NMDA receptor-mediated neuronal transmission | 6 | 61.6× | 2e-08 |
| Long-term potentiation | 6 | 53.9× | 3e-08 |
| Assembly and cell surface presentation of NMDA receptors | 11 | 52.7× | 8e-15 |
| Dopamine Neurotransmitter Release Cycle | 5 | 46.8× | 2e-06 |
| Neurexins and neuroligins | 12 | 44.6× | 5e-15 |
| Protein-protein interactions at synapses | 7 | 35.1× | 3e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 10 | 76.5× | 2e-14 |
| receptor clustering | 7 | 57.5× | 7e-09 |
| protein localization to synapse | 5 | 50.4× | 3e-06 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 7 | 45.6× | 3e-08 |
| protein-containing complex assembly | 9 | 13.5× | 2e-06 |
| cell-cell adhesion | 10 | 13.4× | 4e-07 |
| chemical synaptic transmission | 8 | 8.1× | 3e-04 |
| nervous system development | 8 | 4.8× | 6e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
387 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 16 |
| Likely pathogenic | 11 |
| Uncertain significance | 182 |
| Likely benign | 36 |
| Benign | 90 |
Top pathogenic / likely-pathogenic (27)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1706453 | NM_001377142.1(PLCB4):c.2814+1G>C | Pathogenic |
| 209128 | NM_001377142.1(PLCB4):c.986A>C (p.Asn329Thr) | Pathogenic |
| 2875083 | NM_001377142.1(PLCB4):c.3031_3032del (p.Glu1011fs) | Pathogenic |
| 31637 | NM_001377142.1(PLCB4):c.1904A>G (p.Tyr635Cys) | Pathogenic |
| 31638 | NM_001377142.1(PLCB4):c.986A>G (p.Asn329Ser) | Pathogenic |
| 31639 | NM_001377142.1(PLCB4):c.1898G>A (p.Arg633His) | Pathogenic |
| 31640 | NM_001377142.1(PLCB4):c.1897C>T (p.Arg633Cys) | Pathogenic |
| 31641 | NM_001377142.1(PLCB4):c.1984A>C (p.Asn662His) | Pathogenic |
| 3248283 | NC_000020.10:g.(?7812350)(10654278_?)del | Pathogenic |
| 4082118 | NM_001377142.1(PLCB4):c.1918del (p.Arg640fs) | Pathogenic |
| 633597 | NM_001377142.1(PLCB4):c.1924G>T (p.Asp642Tyr) | Pathogenic |
| 64692 | NM_001377142.1(PLCB4):c.1898G>T (p.Arg633Leu) | Pathogenic |
| 64693 | NM_001377142.1(PLCB4):c.1073A>T (p.Glu358Val) | Pathogenic |
| 64694 | NM_001377142.1(PLCB4):c.1078G>A (p.Asp360Asn) | Pathogenic |
| 64695 | NM_001377142.1(PLCB4):c.1079A>T (p.Asp360Val) | Pathogenic |
| 64696 | NM_001377142.1(PLCB4):c.1648-279_2051+1546del | Pathogenic |
| 1030923 | NM_001377142.1(PLCB4):c.1124A>G (p.His375Arg) | Likely pathogenic |
| 1067926 | NM_001377142.1(PLCB4):c.3409-1G>T | Likely pathogenic |
| 2432743 | NM_001377142.1(PLCB4):c.815_821del (p.Ile272fs) | Likely pathogenic |
| 3342734 | NM_001377142.1(PLCB4):c.21del (p.Phe7fs) | Likely pathogenic |
| 3382174 | NM_001377142.1(PLCB4):c.1057G>A (p.Gly353Ser) | Likely pathogenic |
| 3767226 | NM_001377142.1(PLCB4):c.1656dup (p.Thr553fs) | Likely pathogenic |
| 3769206 | NC_000020.10:g.(9319685_9343542)_(9346162_9351860)dup | Likely pathogenic |
| 3777145 | NM_001377142.1(PLCB4):c.1732T>C (p.Ser578Pro) | Likely pathogenic |
| 382944 | NM_001377142.1(PLCB4):c.453G>T (p.Trp151Cys) | Likely pathogenic |
| 4294389 | NM_001377142.1(PLCB4):c.1080C>G (p.Asp360Glu) | Likely pathogenic |
| 451364 | NM_001377142.1(PLCB4):c.1925A>T (p.Asp642Val) | Likely pathogenic |
SpliceAI
5729 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:9307895:GGAG:G | donor_gain | 1.0000 |
| 20:9307896:GAGG:G | donor_gain | 1.0000 |
| 20:9307897:AGGT:A | donor_loss | 1.0000 |
| 20:9307898:GGT:G | donor_loss | 1.0000 |
| 20:9307899:G:T | donor_loss | 1.0000 |
| 20:9307900:T:G | donor_loss | 1.0000 |
| 20:9338063:CAAAG:C | donor_loss | 1.0000 |
| 20:9338064:AAAGG:A | donor_loss | 1.0000 |
| 20:9338066:AG:A | donor_loss | 1.0000 |
| 20:9338067:GG:G | donor_loss | 1.0000 |
| 20:9338068:G:A | donor_loss | 1.0000 |
| 20:9338069:T:G | donor_loss | 1.0000 |
| 20:9338877:T:TA | acceptor_gain | 1.0000 |
| 20:9338879:T:TA | acceptor_gain | 1.0000 |
| 20:9338882:A:AG | acceptor_gain | 1.0000 |
| 20:9338883:C:G | acceptor_gain | 1.0000 |
| 20:9338890:ACAG:A | acceptor_gain | 1.0000 |
| 20:9338891:C:G | acceptor_gain | 1.0000 |
| 20:9338892:A:AG | acceptor_gain | 1.0000 |
| 20:9338892:AG:A | acceptor_gain | 1.0000 |
| 20:9338892:AGG:A | acceptor_loss | 1.0000 |
| 20:9338893:G:GT | acceptor_gain | 1.0000 |
| 20:9338893:GG:G | acceptor_gain | 1.0000 |
| 20:9338893:GGAT:G | acceptor_gain | 1.0000 |
| 20:9338893:GGATC:G | acceptor_gain | 1.0000 |
| 20:9339026:G:GT | donor_gain | 1.0000 |
| 20:9339033:CTAAG:C | donor_loss | 1.0000 |
| 20:9339035:AAG:A | donor_loss | 1.0000 |
| 20:9339036:AG:A | donor_loss | 1.0000 |
| 20:9339038:GTA:G | donor_loss | 1.0000 |
AlphaMissense
8070 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:9365508:T:A | V166D | 1.000 |
| 20:9371267:T:C | L186P | 1.000 |
| 20:9372352:T:C | L212P | 1.000 |
| 20:9380061:G:C | R251P | 1.000 |
| 20:9384234:T:C | L296P | 1.000 |
| 20:9384239:T:C | S298P | 1.000 |
| 20:9384324:C:T | S326F | 1.000 |
| 20:9384327:C:T | S327F | 1.000 |
| 20:9384329:C:G | H328D | 1.000 |
| 20:9384329:C:T | H328Y | 1.000 |
| 20:9384330:A:G | H328R | 1.000 |
| 20:9384330:A:T | H328L | 1.000 |
| 20:9384331:T:A | H328Q | 1.000 |
| 20:9384331:T:G | H328Q | 1.000 |
| 20:9384334:C:A | N329K | 1.000 |
| 20:9384334:C:G | N329K | 1.000 |
| 20:9384338:T:C | Y331H | 1.000 |
| 20:9384338:T:G | Y331D | 1.000 |
| 20:9384342:T:A | L332H | 1.000 |
| 20:9384342:T:C | L332P | 1.000 |
| 20:9384355:G:C | Q336H | 1.000 |
| 20:9384355:G:T | Q336H | 1.000 |
| 20:9384357:T:C | F337S | 1.000 |
| 20:9384369:C:T | S341F | 1.000 |
| 20:9387464:T:C | C356R | 1.000 |
| 20:9387466:T:G | C356W | 1.000 |
| 20:9387468:T:A | V357D | 1.000 |
| 20:9387470:G:A | E358K | 1.000 |
| 20:9387471:A:T | E358V | 1.000 |
| 20:9387472:A:C | E358D | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000004620 (20:9342218 C>G), RS1000025087 (20:9156682 A>G), RS1000033742 (20:9470765 G>A,T), RS1000045426 (20:9258335 C>A), RS1000048714 (20:9429418 A>G), RS1000051425 (20:9478452 C>T), RS1000058443 (20:9432402 A>G), RS1000061228 (20:9334004 G>A), RS1000070565 (20:9113235 A>C), RS1000071617 (20:9468817 A>C,G), RS1000074388 (20:9069546 T>C), RS1000083722 (20:9107126 T>G), RS1000084628 (20:9245613 C>T), RS1000087870 (20:9383016 G>A), RS1000091908 (20:9334273 T>C)
Disease associations
OMIM: gene MIM:600810 | disease phenotypes: MIM:614669, MIM:602483, MIM:613722, MIM:118450, MIM:620458, MIM:143890, MIM:215045, MIM:155720
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| auriculocondylar syndrome 2 | Strong | Autosomal dominant |
| auriculocondylar syndrome 2B | Strong | Autosomal recessive |
| auriculocondylar syndrome | Supportive | Autosomal dominant |
ClinGen Gene-Disease Validity (2)
Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.
| Disease | Classification | Inheritance |
|---|---|---|
| auriculocondylar syndrome 2 | Definitive | AD |
| auriculocondylar syndrome 2 | Definitive | AR |
Mondo (11): auriculocondylar syndrome 2 (MONDO:0013845), prostate cancer (MONDO:0008315), long QT syndrome (MONDO:0002442), auriculocondylar syndrome 1 (MONDO:0011234), auriculocondylar syndrome (MONDO:0000107), developmental and epileptic encephalopathy, 12 (MONDO:0013389), Alagille syndrome due to a JAG1 point mutation (MONDO:0016862), auriculocondylar syndrome 2B (MONDO:0957544), familial hypercholesterolemia (MONDO:0005439), chondrodysplasia Blomstrand type (MONDO:0008970), uveal melanoma (MONDO:0006486)
Orphanet (6): Auriculocondylar syndrome (Orphanet:137888), Familial prostate cancer (Orphanet:1331), Alagille syndrome due to a JAG1 point mutation (Orphanet:261619), Alagille syndrome (Orphanet:52), Blomstrand lethal chondrodysplasia (Orphanet:50945), Uveal melanoma (Orphanet:39044)
HPO phenotypes
66 total (30 of 66 shown, HPO-id order):
| HPO | Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000040 | Long penis |
| HP:0000160 | Narrow mouth |
| HP:0000162 | Glossoptosis |
| HP:0000171 | Microglossia |
| HP:0000175 | Cleft palate |
| HP:0000183 | Tongue muscle weakness |
| HP:0000193 | Bifid uvula |
| HP:0000256 | Macrocephaly |
| HP:0000293 | Full cheeks |
| HP:0000311 | Round face |
| HP:0000324 | Facial asymmetry |
| HP:0000341 | Narrow forehead |
| HP:0000347 | Micrognathia |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000365 | Hearing impairment |
| HP:0000369 | Low-set ears |
| HP:0000377 | Abnormal pinna morphology |
| HP:0000384 | Preauricular skin tag |
| HP:0000402 | Stenosis of the external auditory canal |
| HP:0000506 | Telecanthus |
| HP:0000508 | Ptosis |
| HP:0000664 | Synophrys |
| HP:0000678 | Dental crowding |
| HP:0000689 | Dental malocclusion |
| HP:0000729 | Autistic behavior |
| HP:0001140 | Limbal dermoid |
| HP:0001252 | Hypotonia |
| HP:0001263 | Global developmental delay |
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000600_1 | Neutrophil count | 3.000000e-10 |
| GCST003518_23 | Daytime sleep phenotypes | 6.000000e-07 |
| GCST005023_39 | Initial pursuit acceleration | 4.000000e-07 |
| GCST005026_13 | Initial pursuit acceleration in psychotic disorders | 9.000000e-08 |
| GCST009391_1517 | Metabolite levels | 9.000000e-06 |
| GCST009391_262 | Metabolite levels | 8.000000e-06 |
| GCST010574_9 | Evening vs. morning chronotype (self-assessed) | 6.000000e-06 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004833 | neutrophil count |
| EFO:0007828 | daytime rest measurement |
| EFO:0008434 | initial pursuit acceleration |
| EFO:0010417 | triacylglycerol 52:5 measurement |
| EFO:0010426 | triacylglycerol 54:8 measurement |
| EFO:0008328 | chronotype measurement |
MeSH disease descriptors (4)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008133 | Long QT Syndrome | C14.280.067.565; C14.280.123.625; C16.131.240.400.715; C23.550.073.547 |
| D011471 | Prostatic Neoplasms | C04.588.945.440.770; C12.100.500.260.750; C12.100.500.565.625; C12.200.294.260.750; C12.200.294.565.625; C12.200.758.409.750; C12.900.619.750 |
| C538270 | Auriculo-condylar syndrome (supp.) | |
| C537914 | Chondrodysplasia, blomstrand type (supp.) |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: enzyme — Phosphoinositide-specific phospholipase C
CTD chemical–gene interactions
52 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases methylation, increases expression | 4 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases expression | 3 |
| Tobacco Smoke Pollution | affects expression, decreases expression | 3 |
| trichostatin A | affects expression, increases expression | 2 |
| perfluorooctane sulfonic acid | decreases expression, affects expression, affects cotreatment | 2 |
| Nickel | decreases expression | 2 |
| Particulate Matter | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| ammonium 2,3,3,3-tetrafluoro-2-(heptafluoropropoxy)-propanoate | affects cotreatment, affects expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| methylselenic acid | increases expression | 1 |
| arsenite | affects binding, decreases reaction | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | decreases expression | 1 |
| perfluorooctanoic acid | affects cotreatment, affects expression | 1 |
| zinc chromate | decreases expression, increases abundance | 1 |
| aflatoxin B2 | increases methylation | 1 |
| diallyl trisulfide | increases expression | 1 |
| sphingosine 1-phosphate | decreases reaction, increases expression | 1 |
| chromium hexavalent ion | decreases expression, increases abundance | 1 |
| 2,2’,4,4’,5-brominated diphenyl ether | decreases expression | 1 |
| abrine | increases expression | 1 |
| Grape Seed Proanthocyanidins | affects cotreatment, increases expression | 1 |
| perfluorobutanesulfonic acid | affects expression, affects cotreatment | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| Fingolimod Hydrochloride | decreases reaction, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E0L7 | Ubigene HeLa PLCB4 KO | Cancer cell line | Female |
| CVCL_TE24 | HAP1 PLCB4 (-) 1 | Cancer cell line | Male |
| CVCL_TE25 | HAP1 PLCB4 (-) 2 | Cancer cell line | Male |
Clinical trials (associated diseases)
300 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00029224 | PHASE4 | COMPLETED | Treatment With Zoledronic Acid in Patients With Breast Cancer, Multiple Myeloma, and Prostate Cancer With Cancer Related Bone Lesions |
| NCT00035997 | PHASE4 | COMPLETED | Open-label Trial on the Effect of I.V. Zoledronic Acid 4 mg on Bone Density in Hormone Sensitive Prostate Cancer Patients With Bone Metastasis |
| NCT00063609 | PHASE4 | COMPLETED | The Effect of Zoledronic Acid on Bone Loss in Prostate Cancer Patients Undergoing Androgen Deprivation Therapy |
| NCT00103623 | PHASE4 | SUSPENDED | The Plenaxis® Experience Study |
| NCT00106392 | PHASE4 | COMPLETED | A Safety and Efficacy Study of Prograf in the Prevention of Erectile Dysfunction After Radical Prostatectomy |
| NCT00185029 | PHASE4 | UNKNOWN | MR-Lymphography and Lymph Node Staging in Prostate Cancer |
| NCT00199485 | PHASE4 | COMPLETED | Angelica Sinensis for the Treatment of Hot Flashes in Men Undergoing LHRH Therapy for Prostate Cancer |
| NCT00219219 | PHASE4 | COMPLETED | Zoledronic Acid in the Prevention of Skeletal-related Events in Hormone Refractory and Hormone-sensitive Prostate Cancer Patients With Bone Metastases |
| NCT00219271 | PHASE4 | COMPLETED | Effect Of Zoledronic Acid On Circulating And Bone Marrow-Residing Prostate Cancer Cells In Patients With Clinically Localized Prostate Cancer |
| NCT00237146 | PHASE4 | COMPLETED | Study to Evaluate Zoledronic Acid on Quality of Life and Skeletal-related Events as Adjuvant Treatment in Patients With Hormone-naïve Prostate Cancer and Bone Metastasis Who Have Undergone Orchiectomy |
| NCT00242554 | PHASE4 | COMPLETED | Open-label Phase IV Clinical Trial to Evaluate the Safety and Tolerability of Zoledronic Acid in Patients With Prostate Cancer and Bone Metastases |
| NCT00280098 | PHASE4 | COMPLETED | Docetaxel in the Treatment of Hormone Refractory Prostate Cancer |
| NCT00293696 | PHASE4 | COMPLETED | Casodex/Zoladex Biomarkers in Localised Prostate Cancer |
| NCT00334139 | PHASE4 | COMPLETED | Effect of Zoledronic Acid on Bone Metabolism in Patients With Bone Metastasis and Prostate or Breast Cancer |
| NCT00375765 | PHASE4 | COMPLETED | Effects On Dihydrotestosterone Regulated Gene Expression In Benign Prostatic Hyperplasia Or Prostate Cancer |
| NCT00391690 | PHASE4 | COMPLETED | Evaluation of Bone Markers as Diagnostic Tools for Early Detection of Bone Metastases in Patients With High Risk Prostate Cancer |
| NCT00422708 | PHASE4 | COMPLETED | Local Anesthesia for Prostate Biopsy |
| NCT00526331 | PHASE4 | COMPLETED | Evaluation of Arterial Pressure Based Cardiac Output for Goal-Directed Perioperative Therapy |
| NCT00590213 | PHASE4 | COMPLETED | Compare the Value of Prophylactic Versus Therapeutic Breast Radiotherapy in CASODEX |
| NCT00629330 | PHASE4 | TERMINATED | Dissemination of Prostate Cancer Screening to PCP’s in African American Communities |
| NCT00771966 | PHASE4 | COMPLETED | Radical Prostatectomy and Perioperative Fluid Therapy |
| NCT00805701 | PHASE4 | COMPLETED | Study Assessing The Efficacy And Safety Of Avodart (Dutasteride) At Improving Urinary Symptoms In Men With Prostate Cancer Who Are Undergoing Seed Implantation |
| NCT00859027 | PHASE4 | COMPLETED | Effect Of Risedronate On Bone Mass In Older Men Receiving Neoadjuvant Therapy For Prostate Cancer |
| NCT00906269 | PHASE4 | UNKNOWN | Can Hyperbaric Oxygen Improve Erectile Function Following Surgery for Prostate Cancer |
| NCT00953277 | PHASE4 | COMPLETED | Study of Nerve Reconstruction Using AVANCE in Subjects Who Undergo Robotic Assisted Prostatectomy for Treatment of Prostate Cancer |
| NCT00982800 | PHASE4 | COMPLETED | Does Postoperative Gabapentin Reduce Pain, Opioid Consumption and Anxiety and Have a Positive Effect on Health Related Quality of Life After Radical Prostatectomy? |
| NCT01083199 | PHASE4 | COMPLETED | Global Performance Evaluation of the AMS CONTINUUM™ Device |
| NCT01136226 | PHASE4 | COMPLETED | Evaluate Recovery of Testosterone for Patients Using Eligard |
| NCT01161563 | PHASE4 | COMPLETED | Randomized Crossover Trial to Assess the Tolerability of Gonadotropin Releasing Hormone (GnRH) Analogue Administration |
| NCT01230905 | PHASE4 | COMPLETED | Study to Monitor the Effects of Androgen Suppression Treatment on the Heart |
| NCT01296672 | PHASE4 | COMPLETED | 3 Month Finasteride Challenge Test Can Significantly Improve the Performance of Screening for Prostate Cancer |
| NCT01365143 | PHASE4 | TERMINATED | Prospective Randomized Trial Comparing Robotic Versus Open Radical Prostatectomy |
| NCT01379742 | PHASE4 | UNKNOWN | Comparison of Between ThinSeed™ and OncoSeed™ for Permanent Prostate Brachytherapy |
| NCT01486563 | PHASE4 | COMPLETED | Hydroxyethyl Starch and Renal Function After Radical Prostatectomy |
| NCT01511874 | PHASE4 | COMPLETED | Efficacy and Safety Study of ELIGARD 22.5mg With Prostate Cancer |
| NCT01512472 | PHASE4 | TERMINATED | Firmagon (Degarelix) Intermittent Therapy |
| NCT01547416 | PHASE4 | COMPLETED | The Effect of Combined General/Epidural Anesthesia Versus General Anesthesia on Diaphragmatic Function |
| NCT01571544 | PHASE4 | COMPLETED | The Use of Thermal Suits as Preventing Hypothermia During Surgery |
| NCT01581749 | PHASE4 | UNKNOWN | Evaluation of Truebeam for Low-Intermediate Risk Prostate Cancer |
| NCT01649635 | PHASE4 | COMPLETED | Study of Cabazitaxel Combined With Prednisone and Prophylaxis of Neutropenia Complications in the Treatment of Patients With Metastatic Castration-resistant Prostate Cancer |
Related Atlas pages
- Associated diseases: auriculocondylar syndrome 2, auriculocondylar syndrome, auriculocondylar syndrome 2B
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Alagille syndrome due to a JAG1 point mutation, auriculocondylar syndrome, auriculocondylar syndrome 1, auriculocondylar syndrome 2, auriculocondylar syndrome 2B, chondrodysplasia Blomstrand type, developmental and epileptic encephalopathy, 12, familial hypercholesterolemia, uveal melanoma