Gene
lemd3
- ID
- ZDB-GENE-030131-490
- Name
- LEM domain containing 3
- Symbol
- lemd3 Nomenclature History
- Previous Names
-
- im:7158446
- si:dkey-6a5.6
- wu:fb34b12
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Predicted to have nucleic acid binding activity. Involved in cerebellum vasculature development. Predicted to localize to integral component of membrane and nuclear inner membrane. Used to study arteriovenous malformations of the brain. Human ortholog(s) of this gene implicated in Buschke-Ollendorff syndrome. Orthologous to human LEMD3 (LEM domain containing 3).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7158446 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Wang et al., 2018
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Buschke-Ollendorff syndrome | Alliance | Buschke-Ollendorff syndrome | 166700 |
| Buschke-Ollendorff syndrome | Alliance | Osteopoikilosis with or without melorheostosis | 166700 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| arteriovenous malformations of the brain | pku6Tg + MO2-lemd3 | standard conditions | Wang et al., 2018 |
| arteriovenous malformations of the brain | pku6Tg + MO1-lemd3 | standard conditions | Wang et al., 2018 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003887 | LEM domain |
| Domain | IPR018996 | Man1/Src1-like, C-terminal |
| Domain | IPR034394 | MAN1, RNA recognition motif |
| Family | IPR052277 | Inner Nuclear Membrane ESCRT-Associated Protein |
| Homologous_superfamily | IPR011015 | LEM/LEM-like domain superfamily |
| Homologous_superfamily | IPR012677 | Nucleotide-binding alpha-beta plait domain superfamily |
| Homologous_superfamily | IPR035979 | RNA-binding domain superfamily |
| Homologous_superfamily | IPR041885 | MAN1, winged-helix domain |
Domain Details Per Protein
| Protein | Length | Inner Nuclear Membrane ESCRT-Associated Protein | LEM domain | LEM/LEM-like domain superfamily | MAN1, RNA recognition motif | Man1/Src1-like, C-terminal | MAN1, winged-helix domain | Nucleotide-binding alpha-beta plait domain superfamily | RNA-binding domain superfamily |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q5TZH9
|
841 |
Interactions and Pathways
No data available
Plasmids
No data available