GUCY2F

guanylate cyclase 2F, retinal, the group of Transmembrane guanylate cyclases

Basic information

Region (hg38): X:109372906-109482086

Links

ENSG00000101890 ∙ NCBI:2986 ∙ OMIM:300041 ∙ HGNC:4691 ∙ Uniprot:P51841 ∙ 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 GUCY2F gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GUCY2F 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				3	1	4
missense			56	3	4	63
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	56	6	5

Variants in GUCY2F

This is a list of pathogenic ClinVar variants found in the GUCY2F region.

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

Position	Type	Phenotype	Significance	ClinVar
X-109375930-G-A		not specified	Uncertain significance (Mar 03, 2025)
X-109375978-C-A		not specified	Uncertain significance (Jul 02, 2024)
X-109376080-C-T		not specified	Uncertain significance (Aug 10, 2021)
X-109376083-C-G		not specified	Uncertain significance (Jan 07, 2025)
X-109376127-T-C		not specified	Uncertain significance (Jun 24, 2022)
X-109376145-A-C		not specified	Uncertain significance (Jul 16, 2024)
X-109382137-C-G		not specified	Uncertain significance (Apr 22, 2022)
X-109385274-C-A		not specified	Uncertain significance (Feb 13, 2024)
X-109385279-G-A		not specified	Uncertain significance (Jul 27, 2024)
X-109388491-G-A		not specified	Uncertain significance (Oct 27, 2022)
X-109388528-G-T		not specified	Uncertain significance (Mar 21, 2023)
X-109388529-C-T		not specified	Uncertain significance (Jan 16, 2025)
X-109388560-C-T		not specified	Uncertain significance (Nov 14, 2024)
X-109388601-C-A		not specified	Uncertain significance (Jun 26, 2024)
X-109388626-C-T		not specified	Uncertain significance (Feb 22, 2023)
X-109391951-G-A			Likely benign (Mar 01, 2023)
X-109392020-A-C		not specified	Uncertain significance (Nov 09, 2022)
X-109392035-T-C			Uncertain significance (Jun 07, 2018)
X-109392045-C-G		not specified	Uncertain significance (May 31, 2023)
X-109392087-G-C		not specified	Uncertain significance (Oct 05, 2023)
X-109392891-C-T			Uncertain significance (-)
X-109392922-G-A		not specified	Uncertain significance (Jan 19, 2024)
X-109392925-T-G		not specified	Uncertain significance (Jan 04, 2024)
X-109392955-C-T		not specified	Uncertain significance (Mar 07, 2023)
X-109392956-G-A		not specified	Uncertain significance (Feb 07, 2025)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GUCY2F	protein_coding	protein_coding	ENST00000218006	18	109167

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.06e-13	0.694	125627	43	76	125746	0.000473

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.205	427	415	1.03	0.0000302	7258
Missense in Polyphen		134	132.94	1.008		2668
Synonymous	-1.73	178	151	1.18	0.0000108	2175
Loss of Function	1.71	26	37.3	0.697	0.00000301	613

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00140	0.00122
Ashkenazi Jewish	0.00	0.00
East Asian	0.000655	0.000489
Finnish	0.000690	0.000508
European (Non-Finnish)	0.000818	0.000571
Middle Eastern	0.000655	0.000489
South Asian	0.000426	0.000261
Other	0.000223	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probably plays a specific functional role in the rods and/or cones of photoreceptors. It may be the enzyme involved in the resynthesis of cGMP required for recovery of the dark state after phototransduction.
• Pathway: Purine metabolism - Homo sapiens (human);Phototransduction - Homo sapiens (human);Signaling by GPCR;Signal Transduction;Purine metabolism;actions of nitric oxide in the heart;Purine nucleotides nucleosides metabolism;Visual signal transduction: Rods;G alpha (i) signalling events;Inactivation, recovery and regulation of the phototransduction cascade;The phototransduction cascade;Visual phototransduction;GPCR downstream signalling;Visual signal transduction: Cones (Consensus)

Recessive Scores

• pRec: 0.169

Intolerance Scores

• loftool: 0.291
• rvis_EVS: 1.56
• rvis_percentile_EVS: 95.67

Haploinsufficiency Scores

• pHI: 0.181
• hipred: Y
• hipred_score: 0.638

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.477

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gucy2f
• Phenotype: 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); vision/eye phenotype

Gene ontology

• Biological process: cGMP biosynthetic process;protein phosphorylation;signal transduction;receptor guanylyl cyclase signaling pathway;visual perception;cGMP-mediated signaling;regulation of rhodopsin mediated signaling pathway;detection of light stimulus involved in visual perception
• Cellular component: nuclear outer membrane;plasma membrane;integral component of plasma membrane;photoreceptor disc membrane
• Molecular function: peptide receptor activity;guanylate cyclase activity;protein kinase activity;ATP binding;GTP binding;signaling receptor activity;protein homodimerization activity;protein heterodimerization activity