GUCY1B2
pseudoguanylate cyclase 1 soluble subunit beta 2 (pseudogene), the group of Soluble guanylate cyclases
Gene summary
Predicted to enable guanylate cyclase activity. Predicted to be involved in response to oxygen levels. Predicted to be located in cytosol. Predicted to be part of guanylate cyclase complex, soluble. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
GenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to GUCY1B2 variants in ClinVar
No annotated ClinVar phenotypes.
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 | 0 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| No transcripts match your selected source or search query. | ||||
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Endothelin Pathways
- NO-cGMP-PKG mediated Neuroprotection
- Phosphodiesterases in neuronal function
- ion channels and their functional role in vascular endothelium
- Purine metabolism
Biological Process
- cGMP biosynthetic process
- cGMP-mediated signaling
Molecular Function
- guanylate cyclase activity
- GTP binding
- heme binding
- metal ion binding
Cellular Component
- cytoplasm
dbNSFP Gene Annotations
Source: