GUCA2A
Basic information
Region (hg38): 1:42162690-42164745
Previous symbols: [ "GUCA2" ]
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 GUCA2A 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 | 9 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 9 | 0 | 0 |
Variants in GUCA2A
This is a list of pathogenic ClinVar variants found in the GUCA2A region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-42162934-C-T | not specified | Uncertain significance (Sep 29, 2022) | ||
| 1-42162952-G-A | not specified | Uncertain significance (Mar 26, 2024) | ||
| 1-42162962-C-T | not specified | Uncertain significance (Jun 07, 2023) | ||
| 1-42163466-A-T | not specified | Uncertain significance (Mar 05, 2025) | ||
| 1-42163484-G-T | not specified | Uncertain significance (Feb 12, 2025) | ||
| 1-42163508-G-A | not specified | Uncertain significance (Dec 06, 2022) | ||
| 1-42163509-G-C | not specified | Uncertain significance (Dec 16, 2022) | ||
| 1-42163549-T-C | not specified | Uncertain significance (Jan 14, 2025) | ||
| 1-42164643-C-T | not specified | Uncertain significance (May 23, 2023) | ||
| 1-42164649-C-G | not specified | Uncertain significance (Oct 13, 2023) | ||
| 1-42164667-C-T | not specified | Uncertain significance (Jun 23, 2023) | ||
| 1-42164668-C-A | not specified | Uncertain significance (May 17, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| GUCA2A | protein_coding | protein_coding | ENST00000357001 | 3 | 2028 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.287 | 0.636 | 124390 | 0 | 3 | 124393 | 0.0000121 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -1.07 | 86 | 62.2 | 1.38 | 0.00000326 | 723 |
| Missense in Polyphen | 27 | 24.771 | 1.09 | 277 | ||
| Synonymous | -1.11 | 35 | 27.6 | 1.27 | 0.00000176 | 225 |
| Loss of Function | 1.34 | 1 | 3.83 | 0.261 | 1.62e-7 | 47 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000295 | 0.0000295 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000558 | 0.0000550 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000892 | 0.00000890 |
| Middle Eastern | 0.0000558 | 0.0000550 |
| South Asian | 0.00 | 0.00 |
| 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.;
- Pathway
- Myometrial Relaxation and Contraction Pathways;Digestion;Digestion and absorption
(Consensus)
Recessive Scores
- pRec
- 0.175
Intolerance Scores
- loftool
- 0.520
- rvis_EVS
- 0.19
- rvis_percentile_EVS
- 66.82
Haploinsufficiency Scores
- pHI
- 0.0793
- hipred
- N
- hipred_score
- 0.123
- ghis
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.0904
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Guca2a
- Phenotype
- endocrine/exocrine gland phenotype; cellular phenotype; digestive/alimentary phenotype;
Gene ontology
- Biological process
- digestion;regulation of signaling receptor activity;positive regulation of guanylate cyclase activity
- Cellular component
- extracellular region
- Molecular function
- hormone activity;guanylate cyclase activator activity