Gene
pitpnm3
- ID
- ZDB-GENE-030131-9216
- Name
- PITPNM family member 3
- Symbol
- pitpnm3 Nomenclature History
- Previous Names
-
- fk08b02
- wu:fk08b02
- Type
- protein_coding_gene
- Location
- Chr: 15 Mapping Details/Browsers
- Description
- Predicted to have phospholipase activity. Involved in cerebellum vasculature development. Predicted to localize to cytoplasm. Used to study arteriovenous malformations of the brain. Human ortholog(s) of this gene implicated in cone-rod dystrophy 5. Orthologous to human PITPNM3 (PITPNM family member 3).
- 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
- 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 |
|---|---|---|---|
| cone-rod dystrophy 5 | Alliance | Cone-rod dystrophy 5 | 600977 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | DDHD domain | HAD-like superfamily | HAD superfamily | LNS2/PITP |
|---|---|---|---|---|---|
|
UniProtKB:E7F006
|
947 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pitpnm3-201
(1)
|
Ensembl | 4,859 nt | ||
| mRNA |
pitpnm3-202
(1)
|
Ensembl | 735 nt |
Interactions and Pathways
No data available
Plasmids
No data available