• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
GUCY2C (HGNC:4688) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
guanylate cyclase 2C
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
GUC2C
Alias symbols
STAR, HSER, GC-C, GCC
%HI
27.06(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.08(Read more about gnomAD LOEUF score)
Cytoband
12p12.3
Genomic Coordinates
GRCh37/hg19: chr12:14765566-14849533 NCBI Ensembl UCSC
GRCh38/hg38: chr12:14612632-14696599 NCBI Ensembl UCSC
MANE Select Transcript
NM_004963.4 ENST00000261170.5 (Read more about MANE Select)
Function
Guanylyl cyclase that catalyzes synthesis of cyclic GMP (cGMP) from GTP (PubMed:1718270, PubMed:11950846, PubMed:23269669, PubMed:22521417, PubMed:22436048). Receptor for the E.coli heat-stable enterotoxin; E.coli enterotoxin markedly stimulates the accumulation of cGMP in mammalian cells expressing GUCY2C (PubMed:1718270, PubMed:1680854). Also activated by the endogenous peptides guanylin and uroguanylin (PubMed:8381596). {ECO:0000269|PubMed:11950846, ECO:0000269|PubMed:1680854, ECO:0000269|Pub... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-26222
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
09/18/2013

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
From OMIM 601330: "In affected members of a large pedigree segregating autosomal dominant early-onset chronic diarrhea mapping to chromosome 12p (DIAR6; 614616), Fiskerstrand et al. (2012) identified heterozygosity for a missense mutation in the GUCY2C gene (601330.0001) that was not found in unaffected family members or controls. Functional analysis suggested that the mutation has a gain-of-function effect, increasing ligand-mediated activation of guanylate cyclase-C with subsequent intracellular accumulation of cGMP." Mutations in GUCY2C have also been associated with autosomal recessive meconium ileus (PMID: 22521417).

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)