• Gene id: 2977

Gene Summary

• Gene Symbol: GUCY1A2   Gene   UCSC   Ensembl
• Aliases: GC-SA2, GUC1A2
• Gene name: guanylate cyclase 1 soluble subunit alpha 2
• Alternate names: guanylate cyclase soluble subunit alpha-2, GCS-alpha-2, guanylate cyclase 1, soluble, alpha 2,
• Gene location: 11q22.3 (107018475: 106674018)     Exons: 1     NC_000011.10
• Gene summary(Entrez): Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylat
• OMIM: 601244

Protein Summary

• Protein general information: P33402  
  • Name: Guanylate cyclase soluble subunit alpha 2 (GCS alpha 2) (EC 4.6.1.2)
  • Length: 732  
  • Mass: 81750
  • Tissue specificity: Isoform 1 is expressed in fetal brain, liver, colon, endothelium and testis. Isoform 2 is expressed only in liver, colon and endothelium.
• Sequence:

  MSRRKISSESFSSLGSDYLETSPEEEGECPLSRLCWNGSRSPPGPLEPSPAAAAAAAAPAPTPAASAAAAAATAG
  ARRVQRRRRVNLDSLGESISRLTAPSPQTIQQTLKRTLQYYEHQVIGYRDAEKNFHNISNRCSYADHSNKEEIED
  VSGILQCTANILGLKFEEIQKRFGEEFFNICFHENERVLRAVGGTLQDFFNGFDALLEHIRTSFGKQATLESPSF
  LCKELPEGTLMLHYFHPHHIVGFAMLGMIKAAGKKIYRLDVEVEQVANEKLCSDVSNPGNCSCLTFLIKECENTN
  IMKNLPQGTSQVPADLRISINTFCRAFPFHLMFDPSMSVLQLGEGLRKQLRCDTHKVLKFEDCFEIVSPKVNATF
  ERVLLRLSTPFVIRTKPEASGSENKDKVMEVKGQMIHVPESNSILFLGSPCVDKLDELMGRGLHLSDIPIHDATR
  DVILVGEQAKAQDGLKKRMDKLKATLERTHQALEEEKKKTVDLLYSIFPGDVAQQLWQGQQVQARKFDDVTMLFS
  DIVGFTAICAQCTPMQVISMLNELYTRFDHQCGFLDIYKVETIGDAYCVAAGLHRKSLCHAKPIALMALKMMELS
  EEVLTPDGRPIQMRIGIHSGSVLAGVVGVRMPRYCLFGNNVTLASKFESGSHPRRINVSPTTYQLLKREESFTFI
  PRSREELPDNFPKEIPGICYFLEVRTGPKPPKPSLSSSRIKKVSYNIGTMFLRETSL

• Structural information:
  • Protein Domains: (521..64-)
    (/note="Guanylate-cyclase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00099"-)
  • Interpro: IPR001054  IPR018297  IPR038158  IPR011644  IPR011645   IPR042463  IPR024096  IPR029787  
  • Prosite: PS00452 PS50125
  • STRING: ENSP00000282249
• Other Databases: GeneCards:  GUCY1A2  Malacards:  GUCY1A2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004383	guanylate cyclase activity	IEA	molecular function
GO:0006182	cGMP biosynthetic process	IEA	biological process
GO:0020037	heme binding	IEA	molecular function
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:0006182	cGMP biosynthetic process	IEA	biological process
GO:0005525	GTP binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0004383	guanylate cyclase activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0004383	guanylate cyclase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0004383	guanylate cyclase activity	IEA	molecular function
GO:0010750	positive regulation of nitric oxide mediated signal transduction	IEA	biological process
GO:0044877	protein-containing complex binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa04022	cGMP-PKG signaling pathway
hsa00230	Purine metabolism
hsa04921	Oxytocin signaling pathway
hsa04270	Vascular smooth muscle contraction
hsa04611	Platelet activation
hsa04713	Circadian entrainment
hsa04970	Salivary secretion
hsa04540	Gap junction
hsa04924	Renin secretion
hsa04730	Long-term depression

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq