Gene
p4ha2
- ID
- ZDB-GENE-030827-1
- Name
- procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide 2
- Symbol
- p4ha2 Nomenclature History
- Previous Names
-
- prolyl 4-hydroxylase A (1)
- zgc:91948
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to contribute to procollagen-proline 4-dioxygenase activity. Predicted to be involved in peptidyl-proline hydroxylation to 4-hydroxy-L-proline. Predicted to localize to endoplasmic reticulum. Human ortholog(s) of this gene implicated in myopia. Is expressed in several structures, including axis; heart rudiment; margin; notochord; and tail bud. Orthologous to human P4HA2 (prolyl 4-hydroxylase subunit alpha 2).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:91948 (18 images)
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 |
---|---|---|---|
Myopia 25, autosomal dominant | 617238 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Domain | IPR005123 | Oxoglutarate/iron-dependent dioxygenase domain |
Domain | IPR006620 | Prolyl 4-hydroxylase, alpha subunit |
Domain | IPR013547 | Prolyl 4-hydroxylase alpha-subunit, N-terminal |
Domain | IPR044862 | Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain |
Family | IPR045054 | Prolyl 4-hydroxylase |
Homologous_superfamily | IPR011990 | Tetratricopeptide-like helical domain superfamily |
Repeat | IPR019734 | Tetratricopeptide repeat |
Domain Details Per Protein
Protein | Length | Oxoglutarate/iron-dependent dioxygenase domain | Prolyl 4-hydroxylase | Prolyl 4-hydroxylase, alpha subunit | Prolyl 4-hydroxylase alpha subunit, Fe(2+) 2OG dioxygenase domain | Prolyl 4-hydroxylase alpha-subunit, N-terminal | Tetratricopeptide-like helical domain superfamily | Tetratricopeptide repeat |
---|---|---|---|---|---|---|---|---|
UniProtKB:A0A286Y8C8
|
536 | |||||||
UniProtKB:A0A8M2BL82
|
542 | |||||||
UniProtKB:Q6DG45
|
514 | |||||||
UniProtKB:A0A8M3ALV0
|
520 | |||||||
UniProtKB:A0A8M2BL71
|
534 | |||||||
UniProtKB:A0A8M3AX68
|
540 |
Interactions and Pathways
No data available
Plasmids
No data available