ZFIN is now using GRCz12tu for Genomic Data
Gene
plcb3
- ID
- ZDB-GENE-030616-594
- Name
- phospholipase C, beta 3 (phosphatidylinositol-specific)
- Symbol
- plcb3 Nomenclature History
- Previous Names
-
- she
- si:ch211-188c22.1
- si:zc188c22.1
- wu:fl04b08
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable calmodulin binding activity and phosphatidylinositol phospholipase C activity. Acts upstream of or within negative regulation of calcium ion import; negative regulation of vascular permeability; and skeletal system development. Predicted to be active in cytoplasm. Is expressed in several structures, including epidermis; nervous system; otic vesicle; pharyngeal arch; and pronephric duct. Human ortholog(s) of this gene implicated in spondylometaphyseal dysplasia with corneal dystrophy. Orthologous to human PLCB3 (phospholipase C beta 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 5 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7154492 (22 images)
Wild Type Expression Summary
- All Phenotype Data
- 15 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| spondylometaphyseal dysplasia with corneal dystrophy | Alliance | Spondylometaphyseal dysplasia with corneal dystrophy | 618961 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR000008 | C2 domain |
| Domain | IPR000909 | Phosphatidylinositol-specific phospholipase C, X domain |
| Domain | IPR001711 | Phospholipase C, phosphatidylinositol-specific, Y domain |
| Domain | IPR014815 | Phospholipase C-beta, C-terminal domain |
| Domain | IPR037862 | PLC-beta, PH domain |
| Domain | IPR053945 | Phosphoinositide phospholipase C beta 1-4-like, EF-hand domain |
| Family | IPR001192 | Phosphoinositide phospholipase C family |
| Family | IPR016280 | Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase beta |
| Homologous_superfamily | IPR011992 | EF-hand domain pair |
| Homologous_superfamily | IPR017946 | PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily |
| Homologous_superfamily | IPR035892 | C2 domain superfamily |
| Homologous_superfamily | IPR042531 | Phospholipase C-beta, C-terminal domain superfamily |
Domain Details Per Protein
| Protein | Additional Resources | Length | C2 domain | C2 domain superfamily | EF-hand domain pair | Phosphatidylinositol-4, 5-bisphosphate phosphodiesterase beta | Phosphatidylinositol-specific phospholipase C, X domain | Phosphoinositide phospholipase C beta 1-4-like, EF-hand domain | Phosphoinositide phospholipase C family | Phospholipase C-beta, C-terminal domain | Phospholipase C-beta, C-terminal domain superfamily | Phospholipase C, phosphatidylinositol-specific, Y domain | PLC-beta, PH domain | PLC-like phosphodiesterase, TIM beta/alpha-barrel domain superfamily |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| UniProtKB:A2TJ25 | InterPro | 1244 | ||||||||||||
| UniProtKB:A0A0R4IVA6 | InterPro | 1245 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers