Gene
ptpn23b
- ID
- ZDB-GENE-060503-179
- Name
- protein tyrosine phosphatase, non-receptor type 23, b
- Symbol
- ptpn23b Nomenclature History
- Previous Names
-
- ptpn23
- si:dkeyp-114f9.2
- Type
- protein_coding_gene
- Location
- Chr: 19 Mapping Details/Browsers
- Description
- Predicted to be involved in early endosome to late endosome transport; endocytic recycling; and protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway. Predicted to act upstream of or within multivesicular body sorting pathway. Predicted to be active in endosome. Orthologous to human PTPN23 (protein tyrosine phosphatase non-receptor type 23).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from van Eekelen et al., 2010
- 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 |
---|---|---|---|
Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity | 618890 |
Domain, Family, and Site Summary
Domain Details Per Protein
Protein | Length | ALIX V-shaped domain | BRO1 domain | BRO1 domain superfamily |
---|---|---|---|---|
UniProtKB:A0A2R8QCR7
|
1229 | |||
UniProtKB:B7ZV28
|
1215 |
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
ptpn23b-201
(1)
|
Ensembl | 3,947 nt | ||
mRNA |
ptpn23b-202
(1)
|
Ensembl | 3,980 nt |
Interactions and Pathways
No data available
Plasmids
No data available