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 enable procollagen-proline 4-dioxygenase activity. Predicted to be involved in peptidyl-proline hydroxylation to 4-hydroxy-L-proline. Predicted to be located in endoplasmic reticulum lumen. Predicted to be active in endoplasmic reticulum. Is expressed in several structures, including axis; heart rudiment; margin; notochord; and tail bud. Human ortholog(s) of this gene implicated in myopia. Orthologous to human P4HA2 (prolyl 4-hydroxylase subunit alpha 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
6 figures from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With p4ha2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Myopia 25, autosomal dominant 617238
Associated With p4ha2 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR005123 Oxoglutarate/iron-dependent dioxygenase
Domain IPR006620 Prolyl 4-hydroxylase, alpha subunit
Domain IPR013026 Tetratricopeptide repeat-containing domain
Domain IPR013547 Prolyl 4-hydroxylase alpha-subunit, N-terminal
Homologous_superfamily IPR011990 Tetratricopeptide-like helical domain superfamily
Repeat IPR019734 Tetratricopeptide repeat
Domain Details Per Protein
Protein Length Oxoglutarate/iron-dependent dioxygenase Prolyl 4-hydroxylase, alpha subunit Prolyl 4-hydroxylase alpha-subunit, N-terminal Tetratricopeptide-like helical domain superfamily Tetratricopeptide repeat Tetratricopeptide repeat-containing domain
UniProtKB:F1QCU6 408
UniProtKB:Q7T2W8 158
UniProtKB:A0A286Y8C8 536
UniProtKB:Q6DG45 514
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations