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 COPII-coated ER to Golgi transport vesicle. 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 | 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 | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
pitpnm3-201
(1)
|
Havana | 4859 nt | |
mRNA |
pitpnm3-202
(1)
|
Ensembl | 735 nt |
Interactions and Pathways
No data available
Plasmids
No data available