GUCA2B

guanylate cyclase activator 2B, the group of Receptor ligands

Basic information

Region (hg38): 1:42153410-42155820

Links

ENSG00000044012 ∙ NCBI:2981 ∙ OMIM:601271 ∙ HGNC:4683 ∙ Uniprot:Q16661 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 2 of 2.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
ENST00000372581.2	ENSP00000361662.1	3	yes	-
NM_000007102.3	NP_000009033.1	3	yes	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GUCA2B gene.

• not_specified (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GUCA2B gene is commonly pathogenic or not. These statistics are base on transcript: NM_000007102.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			10	4		14
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	10	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GUCA2B	protein_coding	protein_coding	ENST00000372581	3	2404

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		123366	0	1	123367	0.00000405

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.322	61	68.5	0.891	0.00000420	705
Missense in Polyphen		19	18.984	1.0009		225
Synonymous	-0.760	39	33.4	1.17	0.00000246	241
Loss of Function	1.62	1	4.84	0.206	2.08e-7	50

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.0000332	0.0000332
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Endogenous activator of intestinal guanylate cyclase. It stimulates this enzyme through the same receptor binding region as the heat-stable enterotoxins. May be a potent physiological regulator of intestinal fluid and electrolyte transport. May be an autocrine/paracrine regulator of intestinal salt and water transport.
• Pathway: Myometrial Relaxation and Contraction Pathways;Digestion;Digestion and absorption (Consensus)

Recessive Scores

• pRec: 0.159

Intolerance Scores

• loftool: 0.154
• rvis_EVS: 0.24
• rvis_percentile_EVS: 68.98

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0525

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: digestion;excretion;body fluid secretion;cGMP-mediated signaling;positive regulation of guanylate cyclase activity;negative regulation of blood pressure
• Cellular component: photoreceptor outer segment;extracellular region;extracellular exosome
• Molecular function: calcium sensitive guanylate cyclase activator activity;guanylate cyclase activator activity