• Gene id: 2986

Gene Summary

• Gene Symbol: GUCY2F   Gene   UCSC   Ensembl
• Aliases: CYGF, GC-F, GUC2DL, GUC2F, RETGC-2, ROS-GC2
• Gene name: guanylate cyclase 2F, retinal
• Alternate names: retinal guanylyl cyclase 2, guanylate cyclase 2D-like, membrane (retina-specific), guanylate cyclase F, rod outer segment membrane guanylate cyclase 2,
• Gene location: Xq22.3-q23 (109482085: 109372060)     Exons: 22     NC_000023.11
• Gene summary(Entrez): 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
• OMIM: 300041

Protein Summary

• Protein general information: P51841  
  • 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)
  • Length: 1108  
  • Mass: 124850
  • Tissue specificity: Retina. Localized exclusively in the outer nuclear layer and inner segments of the rod and cone photoreceptor cells. {ECO
• Sequence:

  MFLGLGRFSRLVLWFAAFRKLLGHHGLASAKFLWCLCLLSVMSLPQQVWTLPYKIGVVGPWACDSLFSKALPEVA
  ARLAIERINRDPSFDLSYSFEYVILNEDCQTSRALSSFISHHQMASGFIGPTNPGYCEAASLLGNSWDKGIFSWA
  CVNYELDNKISYPTFSRTLPSPIRVLVTVMKYFQWAHAGVISSDEDIWVHTANRVASALRSHGLPVGVVLTTGQD
  SQSMRKALQRIHQADRIRIIIMCMHSALIGGETQMHLLECAHDLKMTDGTYVFVPYDALLYSLPYKHTPYRVLRN
  NPKLREAYDAVLTITVESQEKTFYQAFTEAAARGEIPEKLEFDQVSPLFGTIYNSIYFIAQAMNNAMKENGQAGA
  ASLVQHSRNMQFHGFNQLMRTDSNGNGISEYVILDTNLKEWELHSTYTVDMEMELLRFGGTPIHFPGGRPPRADA
  KCWFAEGKICHGGIDPAFAMMVCLTLLIALLSINGFAYFIRRRINKIQLIKGPNRILLTLEDVTFINPHFGSKRG
  SRASVSFQITSEVQSGRSPRLSFSSGSLTPATYENSNIAIYEGDWVWLKKFSLGDFGDLKSIKSRASDVFEMMKD
  LRHENINPLLGFFYDSGMFAIVTEFCSRGSLEDILTNQDVKLDWMFKSSLLLDLIKGMKYLHHREFVHGRLKSRN
  CVVDGRFVLKVTDYGFNDILEMLRLSEEESSMEELLWTAPELLRAPRGSRLGSFAGDVYSFAIIMQEVMVRGTPF
  CMMDLPAQEIINRLKKPPPVYRPVVPPEHAPPECLQLMKQCWAEAAEQRPTFDEIFNQFKTFNKGKKTNIIDSML
  RMLEQYSSNLEDLIRERTEELEIEKQKTEKLLTQMLPPSVAESLKKGCTVEPEGFDLVTLYFSDIVGFTTISAMS
  EPIEVVDLLNDLYTLFDAIIGSHDVYKVETIGDAYMVASGLPKRNGSRHAAEIANMSLDILSSVGTFKMRHMPEV
  PVRIRIGLHSGPVVAGVVGLTMPRYCLFGDTVNTASRMESTGLPYRIHVSLSTVTILQNLSEGYEVELRGRTELK
  GKGTEETFWLIGKKGFMKPLPVPPPVDKDGQVGHGLQPVEIAAFQRRKAERQLVRNKP

• Structural information:
  • Protein Domains: (532..81-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159-)
    (884..101-)
    (/note="Guanylate-cyclase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00099"-)
  • Interpro: IPR001054  IPR018297  IPR001828  IPR033484  IPR011645   IPR011009  IPR029787  IPR028082  IPR000719  IPR001245  
  • Prosite: PS00452 PS50125 PS50011
  • STRING: ENSP00000218006
• Other Databases: GeneCards:  GUCY2F  Malacards:  GUCY2F

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001653	peptide receptor activity	IBA	molecular function
GO:0004383	guanylate cyclase activity	IBA	molecular function
GO:0006182	cGMP biosynthetic process	IBA	biological process
GO:0007165	signal transduction	IBA	biological process
GO:0007168	receptor guanylyl cyclase signaling pathway	IBA	biological process
GO:0017046	peptide hormone binding	IBA	molecular function
GO:0005886	plasma membrane	IBA	cellular component
GO:0016941	natriuretic peptide receptor activity	IBA	molecular function
GO:0120200	rod photoreceptor outer segment	ISS	cellular component
GO:0004383	guanylate cyclase activity	IEA	molecular function
GO:0006182	cGMP biosynthetic process	IEA	biological process
GO:0004672	protein kinase activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0006468	protein phosphorylation	IEA	biological process
GO:0009190	cyclic nucleotide biosynthetic process	IEA	biological process
GO:0016849	phosphorus-oxygen lyase activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0050896	response to stimulus	IEA	biological process
GO:0006182	cGMP biosynthetic process	IEA	biological process
GO:0016829	lyase activity	IEA	molecular function
GO:0007601	visual perception	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0004383	guanylate cyclase activity	TAS	molecular function
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0005640	nuclear outer membrane	TAS	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0007168	receptor guanylyl cyclase signaling pathway	TAS	biological process
GO:0007601	visual perception	TAS	biological process
GO:0004383	guanylate cyclase activity	IEA	molecular function
GO:0022400	regulation of rhodopsin mediated signaling pathway	TAS	biological process
GO:0097381	photoreceptor disc membrane	TAS	cellular component
GO:0120200	rod photoreceptor outer segment	IEA	cellular component
GO:0019934	cGMP-mediated signaling	IEA	biological process
GO:0004383	guanylate cyclase activity	IEA	molecular function
GO:0050908	detection of light stimulus involved in visual perception	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0042802	identical protein binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa04744	Phototransduction

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)