• Gene id: 3000

Gene Summary

• Gene Symbol: GUCY2D   Gene   UCSC   Ensembl
• Aliases: CACD1, CG-E, CORD5, CORD6, CSNB1I, CYGD, GUC1A4, GUC2D, LCA, LCA1, RCD2, RETGC-1, ROS-GC1, ROSGC, retGC
• Gene name: guanylate cyclase 2D, retinal
• Alternate names: retinal guanylyl cyclase 1, ROS-GC, cone rod dystrophy 6, guanylate cyclase 2D, membrane (retina-specific), retinal guanylate cyclase 1, rod outer segment membrane guanylate cyclase,
• Gene location: 17p13.1 (8002614: 8020341)     Exons: 20     NC_000017.11
• Gene summary(Entrez): This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain,
• OMIM: 609679

Protein Summary

• Protein general information: Q02846  
  • Name: Retinal guanylyl cyclase 1 (RETGC 1) (EC 4.6.1.2) (CG E) (Guanylate cyclase 2D, retinal) (Rod outer segment membrane guanylate cyclase) (ROS GC)
  • Length: 1103  
  • Mass: 120059
  • Tissue specificity: Retina. {ECO
• Sequence:

  MTACARRAGGLPDPGLCGPAWWAPSLPRLPRALPRLPLLLLLLLLQPPALSAVFTVGVLGPWACDPIFSRARPDL
  AARLAAARLNRDPGLAGGPRFEVALLPEPCRTPGSLGAVSSALARVSGLVGPVNPAACRPAELLAEEAGIALVPW
  GCPWTQAEGTTAPAVTPAADALYALLRAFGWARVALVTAPQDLWVEAGRSLSTALRARGLPVASVTSMEPLDLSG
  AREALRKVRDGPRVTAVIMVMHSVLLGGEEQRYLLEAAEELGLTDGSLVFLPFDTIHYALSPGPEALAALANSSQ
  LRRAHDAVLTLTRHCPSEGSVLDSLRRAQERRELPSDLNLQQVSPLFGTIYDAVFLLARGVAEARAAAGGRWVSG
  AAVARHIRDAQVPGFCGDLGGDEEPPFVLLDTDAAGDRLFATYMLDPARGSFLSAGTRMHFPRGGSAPGPDPSCW
  FDPNNICGGGLEPGLVFLGFLLVVGMGLAGAFLAHYVRHRLLHMQMVSGPNKIILTVDDITFLHPHGGTSRKVAQ
  GSRSSLGARSMSDIRSGPSQHLDSPNIGVYEGDRVWLKKFPGDQHIAIRPATKTAFSKLQELRHENVALYLGLFL
  ARGAEGPAALWEGNLAVVSEHCTRGSLQDLLAQREIKLDWMFKSSLLLDLIKGIRYLHHRGVAHGRLKSRNCIVD
  GRFVLKITDHGHGRLLEAQKVLPEPPRAEDQLWTAPELLRDPALERRGTLAGDVFSLAIIMQEVVCRSAPYAMLE
  LTPEEVVQRVRSPPPLCRPLVSMDQAPVECILLMKQCWAEQPELRPSMDHTFDLFKNINKGRKTNIIDSMLRMLE
  QYSSNLEDLIRERTEELELEKQKTDRLLTQMLPPSVAEALKTGTPVEPEYFEQVTLYFSDIVGFTTISAMSEPIE
  VVDLLNDLYTLFDAIIGSHDVYKVETIGDAYMVASGLPQRNGQRHAAEIANMSLDILSAVGTFRMRHMPEVPVRI
  RIGLHSGPCVAGVVGLTMPRYCLFGDTVNTASRMESTGLPYRIHVNLSTVGILRALDSGYQVELRGRTELKGKGA
  EDTFWLVGRRGFNKPIPKPPDLQPGSSNHGISLQEIPPERRRKLEKARPGQFS

• Structural information:
  • Protein Domains: (525..80-)
    (/note="Protein-kinase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00159-)
    (880..101-)
    (/note="Guanylate-cyclase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00099"-)
  • Interpro: IPR001054  IPR018297  IPR001828  IPR011645  IPR011009   IPR029787  IPR028082  IPR000719  IPR001245  
  • Prosite: PS00452 PS50125 PS50011
  • PDB: 1AWL
  • PDBsum: 1AWL
  • STRING: ENSP00000254854
• Other Databases: GeneCards:  GUCY2D  Malacards:  GUCY2D

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:0004383	guanylate cyclase activity	IDA	molecular function
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0004383	guanylate cyclase activity	IDA	molecular function
GO:0001750	photoreceptor outer segment	IDA	cellular component
GO:0042803	protein homodimerization activity	ISS	molecular function
GO:0005886	plasma membrane	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:0016829	lyase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0006182	cGMP biosynthetic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016021	integral component of 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:0005515	protein binding	IPI	molecular function
GO:0006182	cGMP biosynthetic process	IEA	biological process
GO:0004383	guanylate cyclase activity	IEA	molecular function
GO:0042622	photoreceptor outer segment membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00230	Purine metabolism
hsa04740	Olfactory transduction
hsa04744	Phototransduction
P06959	CCKR signaling map

Diseases

Associated diseases	References
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Leber congenital amaurosis	KEGG:H00837
Central areolar choroidal dystrophy	KEGG:H01768
Cone-rod dystrophy and cone dystrophy	KEGG:H00481
Leber congenital amaurosis	KEGG:H00837
Central areolar choroidal dystrophy	KEGG:H01768
Retinitis pigmentosa	PMID:11565546
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881