GUCY2F

Chr X

guanylate cyclase 2F, retinal

Also known as: CYGF, GC-F, GUC2DL, GUC2F, RETGC-2, ROS-GC2

The protein encoded by this gene is a guanylyl cyclase found predominantly in photoreceptors in the retina. The encoded protein is thought to be involved in resynthesis of cGMP after light activation of the visual signal transduction cascade, allowing a return to the dark state. This protein is a single-pass type I membrane protein. Defects in this gene may be a cause of X-linked retinitis pigmentosa. [provided by RefSeq, Dec 2008]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
0.97
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.97LOEUF
pLI 0.000
Z-score 1.71
OE 0.70 (0.510.97)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.21Z-score
OE missense 1.03 (0.951.11)
427 obs / 415.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.70 (0.510.97)
00.351.4
Missense OE?1.03 (0.951.11)
00.61.4
Synonymous OE?1.18
01.21.6
LoF obs/exp: 26 / 37.3Missense obs/exp: 427 / 415.2Syn Z: -1.73

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

GUCY2F · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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