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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2977
Gene name	Guanylate cyclase 1 soluble subunit alpha 2
Gene symbol	GUCY1A2
Synonyms (NCBI Gene)	GC-SA2GUC1A2
Chromosome	11
Chromosome location	11q22.3
Summary	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

Show/Hide all (29)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017344	hsa-miR-335-5p	Microarray	18185580
MIRT497100	hsa-miR-330-3p	PAR-CLIP	22291592
MIRT497099	hsa-miR-3614-5p	PAR-CLIP	22291592
MIRT497098	hsa-miR-6500-3p	PAR-CLIP	22291592
MIRT497097	hsa-miR-1288-5p	PAR-CLIP	22291592
MIRT497096	hsa-miR-145-3p	PAR-CLIP	22291592
MIRT486338	hsa-miR-6512-5p	PAR-CLIP	23592263
MIRT486339	hsa-miR-625-3p	PAR-CLIP	23592263
MIRT486337	hsa-miR-7705	PAR-CLIP	23592263
MIRT486336	hsa-miR-3917	PAR-CLIP	23592263
MIRT486335	hsa-miR-3619-3p	PAR-CLIP	23592263
MIRT497100	hsa-miR-330-3p	PAR-CLIP	22291592
MIRT497099	hsa-miR-3614-5p	PAR-CLIP	22291592
MIRT497098	hsa-miR-6500-3p	PAR-CLIP	22291592
MIRT497097	hsa-miR-1288-5p	PAR-CLIP	22291592
MIRT497096	hsa-miR-145-3p	PAR-CLIP	22291592
MIRT486338	hsa-miR-6512-5p	PAR-CLIP	23592263
MIRT486339	hsa-miR-625-3p	PAR-CLIP	23592263
MIRT486337	hsa-miR-7705	PAR-CLIP	23592263
MIRT486336	hsa-miR-3917	PAR-CLIP	23592263
MIRT486335	hsa-miR-3619-3p	PAR-CLIP	23592263
MIRT1038408	hsa-miR-3065-5p	CLIP-seq
MIRT1038409	hsa-miR-3908	CLIP-seq
MIRT1038410	hsa-miR-4311	CLIP-seq
MIRT1038411	hsa-miR-513c	CLIP-seq
MIRT1038412	hsa-miR-514b-5p	CLIP-seq
MIRT1038409	hsa-miR-3908	CLIP-seq
MIRT2450893	hsa-miR-2054	CLIP-seq
MIRT2450893	hsa-miR-2054	CLIP-seq

Show/Hide all (21)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004383	Function	Guanylate cyclase activity	IBA
GO:0004383	Function	Guanylate cyclase activity	IEA
GO:0004383	Function	Guanylate cyclase activity	TAS	1683630
GO:0005515	Function	Protein binding	IPI	24550280, 30126976, 32296183
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006182	Process	CGMP biosynthetic process	IEA
GO:0007165	Process	Signal transduction	TAS	1683630
GO:0007263	Process	Nitric oxide mediated signal transduction	IEA
GO:0008074	Component	Guanylate cyclase complex, soluble	IBA
GO:0009190	Process	Cyclic nucleotide biosynthetic process	IEA
GO:0010750	Process	Positive regulation of nitric oxide mediated signal transduction	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016849	Function	Phosphorus-oxygen lyase activity	IEA
GO:0019934	Process	CGMP-mediated signaling	IBA
GO:0020037	Function	Heme binding	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0070482	Process	Response to oxygen levels	IBA

MIM	HGNC	e!Ensembl
601244	4684	ENSG00000152402

P33402

Protein name

Guanylate cyclase soluble subunit alpha-2 (GCS-alpha-2) (EC 4.6.1.2)

Protein function

Has guanylyl cyclase on binding to the beta-1 subunit.; Isoform 2 acts as a negative regulator of guanylyl cyclase activity as it forms non-functional heterodimers with the beta subunits.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07700	HNOB	105 → 270	Haem-NO-binding	Domain
PF07701	HNOBA	316 → 506	Heme NO binding associated	Domain
PF00211	Guanylate_cyc	512 → 699	Adenylate and Guanylate cyclase catalytic domain	Domain

Tissue specificity

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

MSRRKISSESFSSLGSDYLETSPEEEGECPLSRLCWNGSRSPPGPLEPSPAAAAAAAAPA
PTPAASAAAAAATAGARRVQRRRRVNLDSLGESISRLTAPSPQTIQQTLKRTLQYYEHQV
IGYRDAEKNFHNISNRCSYADHSNKEEIEDVSGILQCTANILGLKFEEIQKRFGEEFFNI
CFHENERVLRAVGGTLQDFFNGFDALLEHIRTSFGKQATLESPSFLCKELPEGTLMLHYF
HPHHIVGFAMLGMIKAAGKKIYRLDVEVEQVANEKLCSDVSNPGNCSCLTFLIKECENTN
IMKNLPQGTSQVPADLRISINTFCRAFPFHLMFDPSMSVLQLGEGLRKQLRCDTHKVLKF
EDCFEIVSPKVNATFERVLLRLSTPFVIRTKPEASGSENKDKVMEVKGQMIHVPESNSIL
FLGSPCVDKLDELMGRGLHLSDIPIHDATRDVILVGEQAKAQDGLKKRMDKLKATLERTH
QALEEEKKKTVDLLYSIFPGDVAQQLWQGQQVQARKFDDVTMLFSDIVGFTAICAQCTPM
QVISMLNELYTRFDHQCGFLDIYKVETIGDAYCVAAGLHRKSLCHAKPIALMALKMMELS
EEVLTPDGRPIQMRIGIHSGSVLAGVVGVRMPRYCLFGNNVTLASKFESGSHPRRINVSP
TTYQLLKREESFTFIPRSREELPDNFPKEIPGICYFLEVRTGPKPPKPSLSSSRIKKVSY
NIGTMFLRETSL

Sequence length

732

Interactions

View interactions

	KEGG
	Purine metabolism Metabolic pathways cGMP-PKG signaling pathway Vascular smooth muscle contraction Gap junction Platelet activation Circadian entrainment Long-term depression Oxytocin signaling pathway Renin secretion Salivary secretion

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (14)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANXIETY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GESTATIONAL DIABETES	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (11)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	28767591	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	GWASDB_DG	22843504		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	18507500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	18507500, 21278247		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	18507500, 21278247		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	18507500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	18507500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	18507500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	18507500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35036435	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

GUCY1A2 (guanylate cyclase 1 soluble subunit alpha 2)