Gene
pdzd8
- ID
- ZDB-GENE-110310-2
- Name
- PDZ domain containing 8
- Symbol
- pdzd8 Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 17 Mapping Details/Browsers
- Description
- Predicted to enable lipid binding activity. Predicted to be involved in mitochondrial calcium ion homeostasis and mitochondrion-endoplasmic reticulum membrane tethering. Predicted to act upstream of or within intracellular signal transduction and lipid transport. Predicted to be active in mitochondria-associated endoplasmic reticulum membrane. Orthologous to human PDZD8 (PDZ domain containing 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
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Intellectual developmental disorder with autism and dysmorphic facies | 620021 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR001478 | PDZ domain |
| Domain | IPR002219 | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain |
| Domain | IPR019411 | MMM1 domain |
| Domain | IPR031468 | Synaptotagmin-like mitochondrial-lipid-binding domain |
| Domain | IPR041489 | PDZ domain 6 |
| Family | IPR039275 | PDZ domain-containing protein 8 |
| Homologous_superfamily | IPR036034 | PDZ superfamily |
| Homologous_superfamily | IPR046349 | C1-like domain superfamily |
Domain Details Per Protein
| Protein | Length | C1-like domain superfamily | MMM1 domain | PDZ domain | PDZ domain 6 | PDZ domain-containing protein 8 | PDZ superfamily | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | Synaptotagmin-like mitochondrial-lipid-binding domain |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:E7F7C3
|
1180 | ||||||||
|
UniProtKB:A0A8M9Q6M1
|
1180 |
Interactions and Pathways
No data available
Plasmids
No data available