GUCY2F

Retinal guanylyl cyclase 2 also known as guanylate cyclase F (GUCY2F) is a protein that in humans is encoded by the GUCY2F gene.^[5]

GUCY2F
Identifiers
Aliases	GUCY2F, CYGF, GC-F, GUC2DL, GUC2F, RETGC-2, ROS-GC2, guanylate cyclase 2F, retinal
External IDs	OMIM: 300041; MGI: 105119; HomoloGene: 37491; GeneCards: GUCY2F; OMA:GUCY2F - orthologs
Gene location (Human) Chr. X chromosome (human)[1] Band Xq22.3-q23 Start 109,372,906 bp[1] End 109,482,086 bp[1]
Gene location (Mouse) Chr. X chromosome (mouse)[2] Band X F2|X 62.85 cM Start 140,864,156 bp[2] End 140,979,927 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in testicle right uterine tube olfactory zone of nasal mucosa endometrium canal of the cervix connective tissue adipose tissue body of uterus viscus abdomen Top expressed in layer of retina neural layer of retina ear vestibular labyrinth outer nuclear layer olfactory bulb diencephalon Hypothalamus Cortex of frontal lobe hippocampal formation More reference expression data BioGPS n/a
Gene ontology Molecular function protein kinase activity nucleotide binding protein homodimerization activity GTP binding lyase activity phosphorus-oxygen lyase activity ATP binding guanylate cyclase activity signaling receptor activity adenylate cyclase activity protein heterodimerization activity peptide receptor activity Cellular component integral component of membrane membrane integral component of plasma membrane photoreceptor disc membrane guanylate cyclase complex, soluble nuclear outer membrane plasma membrane Biological process intracellular signal transduction response to stimulus regulation of rhodopsin mediated signaling pathway cyclic nucleotide biosynthetic process detection of light stimulus involved in visual perception protein phosphorylation visual perception receptor guanylyl cyclase signaling pathway cGMP biosynthetic process cGMP-mediated signaling signal transduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 2986 245650 Ensembl ENSG00000101890 ENSMUSG00000042282 UniProt P51841 Q5SDA5 RefSeq (mRNA) NM_001522 NM_001007576 RefSeq (protein) NP_001513 NP_001007577 Location (UCSC) Chr X: 109.37 – 109.48 Mb Chr X: 140.86 – 140.98 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[5]

Clinical significance

Defects in this gene may be a cause of X-linked retinitis pigmentosa.^[5]