GUCY2C |
- 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
- 1.12(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
ClinGen Curation ID:
CCID:007265
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)