Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2986
Gene name Gene Name - the full gene name approved by the HGNC.	Guanylate cyclase 2F, retinal
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GUCY2F
Synonyms (NCBI Gene) Gene synonyms aliases	CYGF, GC-F, GUC2DL, GUC2F, RETGC-2, ROS-GC2
Chromosome Chromosome number	X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	Xq22.3-q23
Summary Summary of gene provided in NCBI Entrez Gene.	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 r

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001653	Function	Peptide receptor activity	IBA
GO:0004383	Function	Guanylate cyclase activity	IBA
GO:0004383	Function	Guanylate cyclase activity	IEA
GO:0004383	Function	Guanylate cyclase activity	TAS	7777544
GO:0004672	Function	Protein kinase activity	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005525	Function	GTP binding	IEA
GO:0005640	Component	Nuclear outer membrane	IEA
GO:0005640	Component	Nuclear outer membrane	TAS	7777544
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7777544
GO:0006182	Process	CGMP biosynthetic process	IBA
GO:0006182	Process	CGMP biosynthetic process	IEA
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	IBA
GO:0007168	Process	Receptor guanylyl cyclase signaling pathway	TAS	7777544
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	TAS	7777544
GO:0009190	Process	Cyclic nucleotide biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016849	Function	Phosphorus-oxygen lyase activity	IEA
GO:0019934	Process	CGMP-mediated signaling	IEA
GO:0022400	Process	Regulation of opsin-mediated signaling pathway	IEA
GO:0022400	Process	Regulation of opsin-mediated signaling pathway	TAS
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0038023	Function	Signaling receptor activity	TAS	7777544
GO:0042802	Function	Identical protein binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IEA
GO:0097381	Component	Photoreceptor disc membrane	IEA
GO:0097381	Component	Photoreceptor disc membrane	TAS
GO:0120200	Component	Rod photoreceptor outer segment	IEA
GO:0120200	Component	Rod photoreceptor outer segment	ISS

MIM	HGNC	e!Ensembl
300041	4691	ENSG00000101890

Protein

UniProt ID

P51841

Protein name

Retinal guanylyl cyclase 2 (RETGC-2) (EC 4.6.1.2) (Guanylate cyclase 2F, retinal) (Guanylate cyclase F) (GC-F) (Rod outer segment membrane guanylate cyclase 2) (ROS-GC2)

Protein function

Responsible for the synthesis of cyclic GMP (cGMP) in rods and cones of photoreceptors (PubMed:7777544). Plays an essential role in phototransduction, by mediating cGMP replenishment (By similarity). May also participate in the trafficking of me

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01094	ANF_receptor	71 → 415	Receptor family ligand binding region	Family
PF07714	PK_Tyr_Ser-Thr	583 → 809	Protein tyrosine and serine/threonine kinase	Domain
PF07701	HNOBA	814 → 869	Heme NO binding associated	Domain
PF00211	Guanylate_cyc	875 → 1062	Adenylate and Guanylate cyclase catalytic domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Retina. Localized exclusively in the outer nuclear layer and inner segments of the rod and cone photoreceptor cells. {ECO:0000269|PubMed:7777544}.

Sequence

MFLGLGRFSRLVLWFAAFRKLLGHHGLASAKFLWCLCLLSVMSLPQQVWTLPYKIGVVGP
WACDSLFSKALPEVAARLAIERINRDPSFDLSYSFEYVILNEDCQTSRALSSFISHHQMA
SGFIGPTNPGYCEAASLLGNSWDKGIFSWACVNYELDNKISYPTFSRTLPSPIRVLVTVM
KYFQWAHAGVISSDEDIWVHTANRVASALRSHGLPVGVVLTTGQDSQSMRKALQRIHQAD
RIRIIIMCMHSALIGGETQMHLLECAHDLKMTDGTYVFVPYDALLYSLPYKHTPYRVLRN
NPKLREAYDAVLTITVESQEKTFYQAFTEAAARGEIPEKLEFDQVSPLFGTIYNSIYFIA
QAMNNAMKENGQAGAASLVQHSRNMQFHGFNQLMRTDSNGNGISEYVILDTNLKEWELHS
TYTVDMEMELLRFGGTPIHFPGGRPPRADAKCWFAEGKICHGGIDPAFAMMVCLTLLIAL
LSINGFAYFIRRRINKIQLIKGPNRILLTLEDVTFINPHFGSKRGSRASVSFQITSEVQS
GRSPRLSFSSGSLTPATYENSNIAIYEGDWVWLKKFSLGDFGDLKSIKSRASDVFEMMKD
LRHENINPLLGFFYDSGMFAIVTEFCSRGSLEDILTNQDVKLDWMFKSSLLLDLIKGMKY
LHHREFVHGRLKSRNCVVDGRFVLKVTDYGFNDILEMLRLSEEESSMEELLWTAPELLRA
PRGSRLGSFAGDVYSFAIIMQEVMVRGTPFCMMDLPAQEIINRLKKPPPVYRPVVPPEHA
PPECLQLMKQCWAEAAEQRPTFDEIFNQFKTFNKGKKTNIIDSMLRMLEQYSSNLEDLIR
ERTEELEIEKQKTEKLLTQMLPPSVAESLKKGCTVEPEGFDLVTLYFSDIVGFTTISAMS
EPIEVVDLLNDLYTLFDAIIGSHDVYKVETIGDAYMVASGLPKRNGSRHAAEIANMSLDI
LSSVGTFKMRHMPEVPVRIRIGLHSGPVVAGVVGLTMPRYCLFGDTVNTASRMESTGLPY
RIHVSLSTVTILQNLSEGYEVELRGRTELKGKGTEETFWLIGKKGFMKPLPVPPPVDKDG
QVGHGLQPVEIAAFQRRKAERQLVRNKP

Sequence length

1108

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways Phototransduction		Inactivation, recovery and regulation of the phototransduction cascade

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Carcinoma	Basal cell carcinoma	N/A	N/A	GWAS

GUCY2F (guanylate cyclase 2F, retinal)