Gene
megf8
- ID
- ZDB-GENE-090730-1
- Name
- multiple EGF-like-domains 8
- Symbol
- megf8 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Description
- Predicted to have GTP binding activity; GTPase activity; and calcium ion binding activity. Involved in determination of left/right symmetry; gastrulation; and left/right pattern formation. Predicted to localize to integral component of membrane. Used to study Carpenter syndrome. Human ortholog(s) of this gene implicated in Carpenter syndrome. Orthologous to human MEGF8 (multiple EGF like domains 8).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
Carpenter syndrome | Alliance | Carpenter syndrome 2 | 614976 |
Human Disease | Fish | Conditions | Citations |
---|---|---|---|
Carpenter syndrome | WT + MO2-megf8 | standard conditions | Twigg et al., 2012 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR018097 | EGF-like calcium-binding, conserved site |
Domain | IPR000742 | EGF-like domain |
Domain | IPR000859 | CUB domain |
Domain | IPR001881 | EGF-like calcium-binding domain |
Domain | IPR002049 | Laminin-type EGF domain |
Domain | IPR016201 | PSI domain |
Domain | IPR024731 | EGF domain |
Domain | IPR049883 | NOTCH1 EGF-like calcium-binding domain |
Homologous_superfamily | IPR009030 | Growth factor receptor cysteine-rich domain superfamily |
Homologous_superfamily | IPR011043 | Galactose oxidase/kelch, beta-propeller |
Homologous_superfamily | IPR015915 | Kelch-type beta propeller |
Homologous_superfamily | IPR035914 | Spermadhesin, CUB domain superfamily |
PTM | IPR000152 | EGF-type aspartate/asparagine hydroxylation site |
Repeat | IPR002165 | Plexin repeat |
Repeat | IPR006652 | Kelch repeat type 1 |
Domain Details Per Protein
Protein | Length | CUB domain | EGF domain | EGF-like calcium-binding, conserved site | EGF-like calcium-binding domain | EGF-like domain | EGF-type aspartate/asparagine hydroxylation site | Galactose oxidase/kelch, beta-propeller | Growth factor receptor cysteine-rich domain superfamily | Kelch repeat type 1 | Kelch-type beta propeller | Laminin-type EGF domain | NOTCH1 EGF-like calcium-binding domain | Plexin repeat | PSI domain | Spermadhesin, CUB domain superfamily |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProtKB:F1QBZ9
|
2870 |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance