Gene

gch2

ID

ZDB-GENE-001205-3

Name

GTP cyclohydrolase 2

Symbol

gch2 Nomenclature History

Previous Names

gch
camembert (1)
fb51g02
gch1b (1)
unm_vc44
wu:fb51g02 (1)

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. Predicted to be involved in tetrahydrobiopterin biosynthetic process. Predicted to localize to cytoplasm. Human ortholog(s) of this gene implicated in bipolar disorder; dystonia; and dystonia 5. Is expressed in head; neural crest; pigment cell; trunk; and xanthoblast. Orthologous to human GCH1 (GTP cyclohydrolase 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

23 figures from 18 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

eu499 (9 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 3 figures from Lister, 2019
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With gch2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
BH4-deficient hyperphenylalaninemia B	Alliance	Hyperphenylalaninemia, BH4-deficient, B	233910
dystonia 5	Alliance	Dystonia, DOPA-responsive	128230
dystonia, DOPA-responsive	Alliance	Dystonia, DOPA-responsive	128230

Associated With gch2 Via Experimental Models

No data available

Gene Ontology

Protein Domains

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