GUCA1C
  • 40
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GUCA1C (HGNC:4680) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
guanylate cyclase activator 1C
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
GCAP3
%HI
74.3(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.01(Read more about gnomAD pLI score)
LOEUF
1.52(Read more about gnomAD LOEUF score)
Cytoband
3q13.13
Genomic Coordinates
GRCh37/hg19: chr3:108626639-108672726 NCBI Ensembl UCSC
GRCh38/hg38: chr3:108907792-108955195 NCBI Ensembl UCSC
MANE Select Transcript
NM_005459.4 ENST00000261047.8 (Read more about MANE Select)
Function
Stimulates guanylyl cyclase 1 (GC1) and GC2 when free calcium ions concentration is low and inhibits guanylyl cyclases when free calcium ions concentration is elevated. This Ca(2+)-sensitive regulation of guanylyl cyclase (GC) is a key event in recovery of the dark state of rod photoreceptors following light exposure. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-13806
ClinGen Curation ID:
CCID:007264
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Dosage Sensitivity Unlikely (40)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
02/02/2021

Haploinsufficiency (HI) Score Details

HI Score:
40
HI Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
HI Evidence:
  • PUBMED: 32487729
    Rausell et al. (2020) suggested that this gene is dosage sensitivity unlikely because it had at least one homozygous LoF variant present in >1% of the gnomAD population. An example of a homozygous likely LoF variant in this gene in gnomAD includes c.442+1G>T (12861 homozygous individuals).
  • PUBMED: 22344438
    MacArthur et al. (2012) suggested that this gene is dosage sensitivity unlikely because it had at least one homozygous LoF variant present at >5% of the 1000 Genomes Project database.
  • PUBMED: 25807282
    Sulem et al. (2015) identified 11081 individuals in an Icelandic population with a homozygous LoF variant in this gene. This population was participating in a variety of disease projects and the researchers pulled this population to investigate how often homozygous LoF variants were found in this population.
  • PUBMED: 32461654
    Karczewski et al. (2020) identifies 443,769 high confidence loss of function variants in the Genome Aggregation Database (gnomAD) population including this likely LoF variant (c.442+1G>T). Several methods were used to identify these genes including manual curation and utilizing LOEUF scores.
HI Evidence Comments:
This gene was classified as dosage sensitivity unlikely on 2/2/2021 based on review of population data as described in the PMIDs above. These genes all have at least one curated homozygous loss of function variant in 1% or greater of the gnomAD population dataset and some have also been observed in additional population datasets. As of January 2021, there are no disease associations found in OMIM, and no reports suggesting a Mendelian disease association in the literature. The gnomAD pLI score is 0 and the LOEUF score is 1.88 predicting that this gene is tolerant of LoF variation.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000003.11) (NC_000003.12)