GUCY1A2

Chr 11

guanylate cyclase 1 soluble subunit alpha 2

Also known as: GC-SA2, GUC1A2

NCBI Gene: 2977 ENSG00000152402 UniProt: P33402 OMIM: 601244

Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in GUCY1A2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

899 rare PASS variants

Rare truncating (LoF)

1 in 2,100

81 rare PASS variants

Rare synonymous (reference)

1 in 120

414 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for GUCY1A2. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 120	1 in 1,900
South Asian	~43k	1 in 93	1 in 3,600
Remaining (unassigned)	~30k	1 in 82	1 in 4,900
European (Finnish)	~27k	1 in 200	≈ 1 in 8,600
Admixed American	~22k	1 in 74	1 in 720
African / African American	~21k	1 in 73	1 in 2,900
East Asian	~20k	1 in 84	1 in 3,300
Ashkenazi Jewish	~13k	1 in 270	≈ 1 in 5,900
Middle Eastern	~2,884	1 in 110	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.