GUCY1B2

guanylate cyclase 1 soluble subunit beta 2 (pseudogene), the group of Soluble guanylate cyclases

Basic information

Region (hg38): 13:51006991-51062894

Links

ENSG00000123201

∙ NCBI:2974 ∙ OMIM:603695 ∙ HGNC:4686 ∙ Uniprot:O75343 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GUCY1B2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GUCY1B2 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Pathway: Endothelin Pathways;NO-cGMP-PKG mediated Neuroprotection;Phosphodiesterases in neuronal function;ion channels and their functional role in vascular endothelium;Purine metabolism;actions of nitric oxide in the heart;Purine nucleotides nucleosides metabolism;Hemostasis;Nitric oxide stimulates guanylate cyclase;Platelet homeostasis (Consensus)

Haploinsufficiency Scores

pHI: 0.136
hipred
hipred_score
ghis

Mouse Genome Informatics

Gene name: Gucy1b2
Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); taste/olfaction phenotype; homeostasis/metabolism phenotype;

Gene ontology

Biological process: cGMP biosynthetic process;cGMP-mediated signaling
Cellular component: cytoplasm
Molecular function: guanylate cyclase activity;GTP binding;heme binding;metal ion binding