GUCY1A2

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

Basic information

Region (hg38): 11:106674018-107018476

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.

• Inborn genetic diseases (22 variants)
• not provided (1 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.

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					1	1
missense			22			22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	0	1

Variants in GUCY1A2

This is a list of pathogenic ClinVar variants found in the GUCY1A2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-106687718-C-T		not specified	Uncertain significance (Jan 31, 2022)
11-106687745-C-A		not specified	Uncertain significance (Dec 21, 2023)
11-106708543-G-C		not specified	Uncertain significance (Aug 12, 2021)
11-106708608-G-A		not specified	Uncertain significance (Feb 28, 2024)
11-106776446-G-T		not specified	Uncertain significance (Jan 06, 2023)
11-106776483-C-G		not specified	Uncertain significance (Jun 16, 2023)
11-106810252-C-G		not specified	Uncertain significance (Feb 12, 2024)
11-106939832-A-G			Benign (Feb 08, 2018)
11-106939879-G-A		not specified	Uncertain significance (Nov 08, 2022)
11-106939891-T-C		not specified	Uncertain significance (Aug 28, 2023)
11-106939924-A-G		not specified	Uncertain significance (May 04, 2022)
11-106939999-G-A		not specified	Uncertain significance (Jun 16, 2022)
11-106940011-T-C		not specified	Uncertain significance (Jul 31, 2023)
11-106940062-C-T		not specified	Uncertain significance (Jan 24, 2024)
11-106940110-C-T		not specified	Uncertain significance (May 11, 2022)
11-106978657-T-G		not specified	Uncertain significance (Mar 29, 2023)
11-106978674-G-C		not specified	Uncertain significance (Apr 06, 2023)
11-106978739-A-G		not specified	Uncertain significance (Mar 27, 2023)
11-106986078-T-A		not specified	Uncertain significance (Mar 24, 2023)
11-106986116-G-C		not specified	Uncertain significance (May 17, 2023)
11-106986124-G-A		not specified	Uncertain significance (Feb 05, 2024)
11-107017805-C-T		not specified	Uncertain significance (Jul 14, 2023)
11-107017827-TGGCCCCGGCAGTGGCAGCGGC-T			Uncertain significance (Feb 12, 2024)
11-107017857-C-A		not specified	Uncertain significance (Dec 19, 2022)
11-107017896-C-T		not specified	Uncertain significance (Feb 10, 2022)

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

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