GUCY1B1

guanylate cyclase 1 soluble subunit beta 1, the group of Soluble guanylate cyclases

Basic information

Region (hg38): 4:155758992-155807811

Previous symbols: [ "GUC1B3", "GUCY1B3" ]

Links

ENSG00000061918 ∙ NCBI:2983 ∙ OMIM:139397 ∙ HGNC:4687 ∙ Uniprot:Q02153 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GUCY1B1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GUCY1B1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			22			22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	23	0	0

Variants in GUCY1B1

This is a list of pathogenic ClinVar variants found in the GUCY1B1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-155759844-G-A		not specified	Uncertain significance (Jan 23, 2023)
4-155777525-T-A		not specified	Uncertain significance (May 07, 2024)
4-155777598-A-G		not specified	Uncertain significance (Dec 27, 2023)
4-155789753-C-T		not specified	Uncertain significance (Oct 08, 2024)
4-155793980-G-A		not specified	Uncertain significance (Jun 07, 2023)
4-155794001-G-T		not specified	Uncertain significance (Jun 12, 2023)
4-155794034-G-A		not specified	Uncertain significance (Jul 10, 2024)
4-155794054-T-C		not specified	Uncertain significance (Dec 04, 2024)
4-155794082-C-T		not specified	Uncertain significance (Jun 16, 2024)
4-155795360-G-A		not specified	Uncertain significance (Mar 18, 2024)
4-155795404-A-T		not specified	Uncertain significance (Jan 02, 2024)
4-155796434-A-G		not specified	Uncertain significance (Mar 28, 2023)
4-155802461-C-T		not specified	Uncertain significance (Jan 23, 2023)
4-155802509-A-G		not specified	Uncertain significance (Feb 09, 2023)
4-155803634-T-C		not specified	Uncertain significance (Dec 15, 2023)
4-155803669-G-A		not specified	Uncertain significance (Mar 21, 2023)
4-155803690-C-G		not specified	Uncertain significance (Dec 22, 2023)
4-155803696-A-C		not specified	Uncertain significance (Jan 03, 2024)
4-155803735-C-G		not specified	Uncertain significance (Jan 19, 2024)
4-155803753-G-A		not specified	Uncertain significance (Dec 21, 2023)
4-155805103-A-T		not specified	Uncertain significance (May 17, 2023)
4-155805124-T-G		not specified	Uncertain significance (Mar 11, 2022)
4-155805225-C-T		not specified	Uncertain significance (Mar 29, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GUCY1B1	protein_coding	protein_coding	ENST00000264424	14	48600

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000258	0.999	124641	0	17	124658	0.0000682

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	3.12	173	333	0.519	0.0000171	4082
Missense in Polyphen		42	119.99	0.35002		1443
Synonymous	-0.324	121	117	1.04	0.00000585	1163
Loss of Function	2.95	13	30.6	0.424	0.00000162	388

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000158	0.000158
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.0000804	0.0000796
Middle Eastern	0.00	0.00
South Asian	0.0000990	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Mediates responses to nitric oxide (NO) by catalyzing the biosynthesis of the signaling molecule cGMP. {ECO:0000250|UniProtKB:P16068, ECO:0000269|PubMed:1352257}.
• Pathway: Platelet activation - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);Long-term depression - Homo sapiens (human);Gap junction - Homo sapiens (human);Circadian entrainment - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Renin secretion - Homo sapiens (human);Salivary secretion - Homo sapiens (human);Purine metabolism - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Purine Nucleoside Phosphorylase Deficiency;Mercaptopurine Action Pathway;Azathioprine Action Pathway;Xanthine Dehydrogenase Deficiency (Xanthinuria);Adenylosuccinate Lyase Deficiency;AICA-Ribosiduria;Thioguanine Action Pathway;Adenine phosphoribosyltransferase deficiency (APRT);Mitochondrial DNA depletion syndrome;Myoadenylate deaminase deficiency;Purine Metabolism;Molybdenum Cofactor Deficiency;Adenosine Deaminase Deficiency;Gout or Kelley-Seegmiller Syndrome;Lesch-Nyhan Syndrome (LNS);Xanthinuria type I;Xanthinuria type II;NO-cGMP-PKG mediated Neuroprotection;Phosphodiesterases in neuronal function;ion channels and their functional role in vascular endothelium;Purine metabolism;actions of nitric oxide in the heart;Purine nucleotides nucleosides metabolism;Hemostasis;Nitric oxide stimulates guanylate cyclase;Platelet homeostasis (Consensus)

Recessive Scores

• pRec: 0.138

Intolerance Scores

• rvis_EVS: -0.56
• rvis_percentile_EVS: 19.54

Haploinsufficiency Scores

• pHI: 0.272
• hipred: Y
• hipred_score: 0.637
• ghis: 0.592

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Gucy1b1
• Phenotype: homeostasis/metabolism phenotype; muscle phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; liver/biliary system phenotype; immune system phenotype; digestive/alimentary phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Gene ontology

• Biological process: cGMP biosynthetic process;nitric oxide mediated signal transduction;blood circulation;cGMP-mediated signaling;nitric oxide-cGMP-mediated signaling pathway;cellular response to nitric oxide;trans-synaptic signaling by nitric oxide, modulating synaptic transmission
• Cellular component: guanylate cyclase complex, soluble;presynaptic active zone
• Molecular function: guanylate cyclase activity;protein binding;GTP binding;heme binding;signaling receptor activity;metal ion binding