GUCA2A

guanylate cyclase activator 2A, the group of Receptor ligands

Basic information

Region (hg38): 1:42162690-42164745

Previous symbols: [ "GUCA2" ]

Links

ENSG00000197273 ∙ NCBI:2980 ∙ OMIM:139392 ∙ HGNC:4682 ∙ Uniprot:Q02747 ∙ 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 GUCA2A gene.

• not_specified (14 variants)

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. These statistics are base on transcript: NM_000033553.3. 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			14			14
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	14	0	0

GnomAD

Source: gnomAD

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: dbNSFP

• 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

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