PLCB4
1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-4
Also known as: PLCB4_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q15147
- Gene
- PLCB4
- Ensembl
- ENSG00000101333
- Chromosome
- 20
- Canonical length
- 1175 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
OverviewNCBI Gene
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]
Canonical amino-acid sequenceUniProt
1175 residues, UniProt reviewed canonical sequence.
>Q15147|PLCB4
1 MAKPYEFNWQ KEVPSFLQEG AVFDRYEEES FVFEPNCLFK VDEFGFFLTW RSEGKEGQVL
61 ECSLINSIRS GAIPKDPKIL AALEAVGKSE NDLEGRIVCV CSGTDLVNIS FTYMVAENPE
121 VTKQWVEGLR SIIHNFRANN VSPMTCLKKH WMKLAFMTNT NGKIPVRSIT RTFASGKTEK
181 VIFQALKELG LPSGKNDEIE PTAFSYEKFY ELTQKICPRT DIEDLFKKIN GDKTDYLTVD
241 QLVSFLNEHQ RDPRLNEILF PFYDAKRAMQ IIEMYEPDED LKKKGLISSD GFCRYLMSDE
301 NAPVFLDRLE LYQEMDHPLA HYFISSSHNT YLTGRQFGGK SSVEMYRQVL LAGCRCVELD
361 CWDGKGEDQE PIITHGKAMC TDILFKDVIQ AIKETAFVTS EYPVILSFEN HCSKYQQYKM
421 SKYCEDLFGD LLLKQALESH PLEPGRALPS PNDLKRKILI KNKRLKPEVE KKQLEALRSM
481 MEAGESASPA NILEDDNEEE IESADQEEEA HPEFKFGNEL SADDLGHKEA VANSVKKGLV
541 TVEDEQAWMA SYKYVGATTN IHPYLSTMIN YAQPVKFQGF HVAEERNIHY NMSSFNESVG
601 LGYLKTHAIE FVNYNKRQMS RIYPKGGRVD SSNYMPQIFW NAGCQMVSLN YQTPDLAMQL
661 NQGKFEYNGS CGYLLKPDFM RRPDRTFDPF SETPVDGVIA ATCSVQVISG QFLSDKKIGT
721 YVEVDMYGLP TDTIRKEFRT RMVMNNGLNP VYNEESFVFR KVILPDLAVL RIAVYDDNNK
781 LIGQRILPLD GLQAGYRHIS LRNEGNKPLS LPTIFCNIVL KTYVPDGFGD IVDALSDPKK
841 FLSITEKRAD QMRAMGIETS DIADVPSDTS KNDKKGKANT AKANVTPQSS SELRPTTTAA
901 LASGVEAKKG IELIPQVRIE DLKQMKAYLK HLKKQQKELN SLKKKHAKEH STMQKLHCTQ
961 VDKIVAQYDK EKSTHEKILE KAMKKKGGSN CLEMKKETEI KIQTLTSDHK SKVKEIVAQH
1021 TKEWSEMINT HSAEEQEIRD LHLSQQCELL KKLLINAHEQ QTQQLKLSHD RESKEMRAHQ
1081 AKISMENSKA ISQDKSIKNK AERERRVREL NSSNTKKFLE ERKRLAMKQS KEMDQLKKVQ
1141 LEHLEFLEKQ NEQAKEMQQM VKLEAEMDRR PATVVLocalizationUniProt · AlphaFold · HPA
Whether an antibody against PLCB4 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.3
- Highest tissue expression
- 48 nTPM
Expression across tissuesHPA
Tissue
- salivary gland: 48 nTPM
- thyroid gland: 27 nTPM
- epididymis: 19 nTPM
- colon: 17 nTPM
- heart muscle: 15 nTPM
- retina: 14 nTPM
Single-cell type
- choroid plexus epithelial cells: 1,249 nCPM
- retinal horizontal cells: 1,170 nCPM
- salivary acinar cells: 1,051 nCPM
- pituitary stem cells: 700 nCPM
- thyrotrophs: 684 nCPM
- retinal bipolar cells: 674 nCPM
Immune cell
- plasmacytoid DC: 2 nTPM
- basophil: 1.8 nTPM
- total PBMC: 0.5 nTPM
- classical monocyte: 0.4 nTPM
- myeloid DC: 0.3 nTPM
- eosinophil: 0.2 nTPM
Brain region
- cerebellum: 64 nTPM
- choroid plexus: 43 nTPM
- thalamus: 36 nTPM
- midbrain: 30 nTPM
- medulla oblongata: 25 nTPM
- hypothalamus: 23 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about PLCB4.
Disease | AllUniProt
Conditions PLCB4 is implicated in, by any mechanism.
- Auriculocondylar syndrome 2A (ARCND2A) MIM:614669
- Auriculocondylar syndrome 2B (ARCND2B) MIM:620458
Disease | GeneticClinVar
26 pathogenic / likely-pathogenic of 382 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Auriculocondylar syndrome 2
- Auriculocondylar syndrome 1
- Inborn genetic diseases
- Auriculocondylar syndrome 2B
- Auriculocondylar syndrome
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.45
- gnomAD pLI
- 0
- gnomAD missense Z
- 3.57
- DepMap mean gene effect
- 0
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- G protein-coupled receptor signaling pathway
- lipid catabolic process
- phosphatidylinositol metabolic process
- phosphatidylinositol-mediated signaling
- release of sequestered calcium ion into cytosol
- phospholipase C-activating endothelin receptor signaling pathway
Molecular functions
- calcium ion binding
- phosphatidylinositol phospholipase C activity
- phosphatidylinositol-4,5-bisphosphate phospholipase C activity
- phospholipase C activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- C2 domain
- Phosphatidylinositol-specific phospholipase C, X domain
- Phosphoinositide phospholipase C family
- Phospholipase C, phosphatidylinositol-specific, Y domain
- EF-hand domain pair
- Phospholipase C-beta, C-terminal domain
- Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase beta
- PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily
- C2 domain superfamily
- PLC-beta, PH domain
- Phospholipase C-beta, C-terminal domain superfamily
- Phosphoinositide phospholipase C beta 1-4-like, EF-hand domain
- C2 domain
- Phosphatidylinositol-specific phospholipase C, Y domain
- Phosphatidylinositol-specific phospholipase C, X domain
- PLC-beta C terminal
- PH domain
- Phosphoinositide phospholipase C beta1-4-like EF-hand domain
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads PLCB4 as an antibody target. Whether an autoantibody or antibody against PLCB4 could matter depends on whether native PLCB4 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
PLCB4 is annotated at the cell surface, where native PLCB4 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label PLCB4 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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