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.

• not_specified (92 variants)
• not_provided (14 variants)

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. These statistics are base on transcript: NM_000001522.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			11	4	1	16
missense			113	4	4	121
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			7			7
Total	0	0	132	8	5

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
		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

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

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