GUCY1A2

guanylate cyclase 1 soluble subunit alpha 2, the group of Soluble guanylate cyclases

Basic information

Region (hg38): 11:106674019-107018476

Previous symbols: [ "GUC1A2" ]

Links

ENSG00000152402

∙ NCBI:2977 ∙ OMIM:601244 ∙ HGNC:4684 ∙ Uniprot:P33402 ∙ 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 GUCY1A2 gene.

not_specified (70 variants)
not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GUCY1A2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000855.3. Only rare variants are included in the table.

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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous					1 clinvar	1
missense			70 clinvar			70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	70	0	1

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GUCY1A2	protein_coding	protein_coding	ENST00000282249	9	344513

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.314	0.686	125734	0	12	125746	0.0000477

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.36	262	394	0.666	0.0000198	4981
Missense in Polyphen		50	140.09	0.35693		1702
Synonymous	0.179	146	149	0.981	0.00000765	1503
Loss of Function	3.93	7	30.3	0.231	0.00000186	357

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000921	0.0000905
Ashkenazi Jewish	0.0000995	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000751	0.0000703
Middle Eastern	0.0000544	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Has guanylyl cyclase on binding to the beta-1 subunit.;
Pathway: Platelet activation - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);Long-term depression - Homo sapiens (human);Gap junction - Homo sapiens (human);Circadian entrainment - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Renin secretion - Homo sapiens (human);Salivary secretion - Homo sapiens (human);Purine metabolism - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Purine Nucleoside Phosphorylase Deficiency;Mercaptopurine Action Pathway;Azathioprine Action Pathway;Xanthine Dehydrogenase Deficiency (Xanthinuria);Adenylosuccinate Lyase Deficiency;AICA-Ribosiduria;Thioguanine Action Pathway;Adenine phosphoribosyltransferase deficiency (APRT);Mitochondrial DNA depletion syndrome;Myoadenylate deaminase deficiency;Purine Metabolism;Molybdenum Cofactor Deficiency;Adenosine Deaminase Deficiency;Gout or Kelley-Seegmiller Syndrome;Lesch-Nyhan Syndrome (LNS);Xanthinuria type I;Xanthinuria type II;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)

Recessive Scores

pRec: 0.135

Intolerance Scores

loftool: 0.0879
rvis_EVS: -1.05
rvis_percentile_EVS: 7.66

Haploinsufficiency Scores

pHI: 0.330
hipred: Y
hipred_score: 0.746
ghis: 0.552

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.766

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Gucy1a2
Phenotype

Gene ontology

Biological process: cGMP biosynthetic process;signal transduction;positive regulation of nitric oxide mediated signal transduction;intracellular signal transduction
Cellular component: cytoplasm
Molecular function: guanylate cyclase activity;protein binding;GTP binding;heme binding