GUCA2B
Basic information
Region (hg38): 1:42153410-42155820
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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.
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 | 4 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 2 | 2 | 0 |
Variants in GUCA2B
This is a list of pathogenic ClinVar variants found in the GUCA2B region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-42153463-G-A | not specified | Likely benign (Nov 28, 2023) | ||
| 1-42153538-C-A | not specified | Likely benign (Jun 30, 2022) | ||
| 1-42154692-C-T | not specified | Uncertain significance (Jun 24, 2022) | ||
| 1-42154752-C-T | not specified | Uncertain significance (Mar 20, 2024) | ||
| 1-42154785-G-A | not specified | Uncertain significance (Jan 30, 2024) |
GnomAD
Source:
| 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 |
|---|---|---|---|---|---|---|
| 0.381 | 0.578 | 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:
- 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
Haploinsufficiency Scores
- pHI
- 0.529
- hipred
- N
- hipred_score
- 0.203
- ghis
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 |
Mouse Genome Informatics
- Gene name
- Guca2b
- 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); renal/urinary system phenotype; digestive/alimentary phenotype; homeostasis/metabolism phenotype;
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