Gene
gch2
- ID
- ZDB-GENE-001205-3
- Name
- GTP cyclohydrolase 2
- Symbol
- gch2 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Predicted to have GTP binding activity; GTP cyclohydrolase I activity; and zinc ion binding activity. Involved in xanthophore differentiation. Predicted to localize to cytoplasm. Is expressed in head; neural crest; pigment cell; trunk; and xanthoblast. Human ortholog(s) of this gene implicated in bipolar disorder; dystonia; and dystonia 5. Orthologous to human GCH1 (GTP cyclohydrolase 1).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 24 figures from 19 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- eu499 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- 3 figures from Lister, 2019
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
BH4-deficient hyperphenylalaninemia B | Alliance | Hyperphenylalaninemia, BH4-deficient, B | 233910 |
dopa-responsive dystonia | Alliance | Dystonia, DOPA-responsive | 128230 |
Domain, Family, and Site Summary
Type | InterPro ID | Name |
---|---|---|
Conserved_site | IPR018234 | GTP cyclohydrolase I, conserved site |
Domain | IPR020602 | GTP cyclohydrolase I domain |
Family | IPR001474 | GTP cyclohydrolase I |
Homologous_superfamily | IPR043133 | GTP cyclohydrolase I, C-terminal/NADPH-dependent 7-cyano-7-deazaguanine reductase |
Homologous_superfamily | IPR043134 | GTP cyclohydrolase I, N-terminal domain |
Domain Details Per Protein
Protein | Length | GTP cyclohydrolase I | GTP cyclohydrolase I, conserved site | GTP cyclohydrolase I, C-terminal/NADPH-dependent 7-cyano-7-deazaguanine reductase | GTP cyclohydrolase I domain | GTP cyclohydrolase I, N-terminal domain |
---|---|---|---|---|---|---|
UniProtKB:Q6IQV5
|
240 |
Interactions and Pathways
No data available
Plasmids
No data available