Gene
dlg4b
- ID
- ZDB-GENE-040628-3
- Name
- discs, large homolog 4b (Drosophila)
- Symbol
- dlg4b Nomenclature History
- Previous Names
-
- dlg4
- PSD95/SAP90 (1)
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Exhibits protein heterodimerization activity. Predicted to be involved in several processes, including chemical synaptic transmission; receptor clustering; and receptor localization to synapse. Localizes to synapse. Predicted to colocalize with ionotropic glutamate receptor complex. Human ortholog(s) of this gene implicated in autosomal dominant non-syndromic intellectual disability. Is expressed in nervous system and neural tube. Orthologous to human DLG4 (discs large MAGUK scaffold protein 4).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 4 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from America et al., 2022
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Intellectual developmental disorder, autosomal dominant 62 | 618793 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Conserved_site | IPR020590 | Guanylate kinase, conserved site |
| Domain | IPR001452 | SH3 domain |
| Domain | IPR001478 | PDZ domain |
| Domain | IPR004172 | L27 domain |
| Domain | IPR008144 | Guanylate kinase-like domain |
| Domain | IPR008145 | Guanylate kinase/L-type calcium channel beta subunit |
| Domain | IPR015143 | L27-1 |
| Domain | IPR019583 | Disks large homolog 1-4, PDZ-associated domain |
| Domain | IPR019590 | Disks large homologue 1, N-terminal PEST domain |
| Family | IPR016313 | Disks large 1-like |
| Family | IPR050614 | Synaptic Scaffolding LAP/MAGUK Families |
| Homologous_superfamily | IPR027417 | P-loop containing nucleoside triphosphate hydrolase |
| Homologous_superfamily | IPR036028 | SH3-like domain superfamily |
| Homologous_superfamily | IPR036034 | PDZ superfamily |
| Homologous_superfamily | IPR036892 | L27 domain superfamily |
Domain Details Per Protein
| Protein | Length | Disks large 1-like | Disks large homolog 1-4, PDZ-associated domain | Disks large homologue 1, N-terminal PEST domain | Guanylate kinase, conserved site | Guanylate kinase-like domain | Guanylate kinase/L-type calcium channel beta subunit | L27-1 | L27 domain | L27 domain superfamily | PDZ domain | PDZ superfamily | P-loop containing nucleoside triphosphate hydrolase | SH3 domain | SH3-like domain superfamily | Synaptic Scaffolding LAP/MAGUK Families |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q6R005
|
801 |
Interactions and Pathways
No data available
Plasmids
No data available