GCG
glucagon, the group of Receptor ligands
Basic information
Region (hg38): 2:162142882-162152404
Links
Phenotypes
GenCC
Source:
No genCC data.
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 GCG 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 | 2 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 1 | 0 | 1 |
Variants in GCG
This is a list of pathogenic ClinVar variants found in the GCG region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 2-162144034-T-C | not specified | Uncertain significance (Jul 27, 2024) | ||
| 2-162144091-T-C | Benign (Dec 31, 2019) | |||
| 2-162147348-C-T | Benign (Dec 31, 2019) | |||
| 2-162149117-C-A | not specified | Uncertain significance (Dec 27, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| GCG | protein_coding | protein_coding | ENST00000418842 | 5 | 9523 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0348 | 0.932 | 124596 | 0 | 25 | 124621 | 0.000100 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.134 | 106 | 102 | 1.04 | 0.00000547 | 1206 |
| Missense in Polyphen | 22 | 30.796 | 0.71438 | 382 | ||
| Synonymous | -1.46 | 45 | 34.2 | 1.32 | 0.00000182 | 313 |
| Loss of Function | 1.84 | 4 | 10.4 | 0.385 | 5.99e-7 | 109 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000455 | 0.000455 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000624 | 0.0000620 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000982 | 0.0000980 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Glucagon plays a key role in glucose metabolism and homeostasis. Regulates blood glucose by increasing gluconeogenesis and decreasing glycolysis. A counterregulatory hormone of insulin, raises plasma glucose levels in response to insulin-induced hypoglycemia. Plays an important role in initiating and maintaining hyperglycemic conditions in diabetes.; FUNCTION: GLP-2 stimulates intestinal growth and up-regulates villus height in the small intestine, concomitant with increased crypt cell proliferation and decreased enterocyte apoptosis. The gastrointestinal tract, from the stomach to the colon is the principal target for GLP-2 action. Plays a key role in nutrient homeostasis, enhancing nutrient assimilation through enhanced gastrointestinal function, as well as increasing nutrient disposal. Stimulates intestinal glucose transport and decreases mucosal permeability.; FUNCTION: Glicentin may modulate gastric acid secretion and the gastro-pyloro-duodenal activity. May play an important role in intestinal mucosal growth in the early period of life.;
- Pathway
- Thermogenesis - Homo sapiens (human);Glucagon signaling pathway - Homo sapiens (human);Insulin secretion - Homo sapiens (human);Incretin synthesis, secretion, and inactivation;SCFA and skeletal muscle substrate metabolism;Signaling by GPCR;Signal Transduction;Incretin synthesis, secretion, and inactivation;Peptide hormone metabolism;Glucagon signaling in metabolic regulation;Metabolism of proteins;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Metabolism;G alpha (s) signalling events;Glucagon-like Peptide-1 (GLP1) regulates insulin secretion;Regulation of insulin secretion;Glucagon-type ligand receptors;Class B/2 (Secretin family receptors);GPCR ligand binding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;FOXA1 transcription factor network;GPCR signaling-G alpha i;Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1);Integration of energy metabolism;G alpha (q) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.844
Intolerance Scores
- loftool
- rvis_EVS
- 0.04
- rvis_percentile_EVS
- 56.64
Haploinsufficiency Scores
- pHI
- 0.248
- hipred
- N
- hipred_score
- 0.352
- ghis
- 0.392
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.881
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gcg
- Phenotype
- mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); renal/urinary system phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- signal transduction;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;feeding behavior;cell population proliferation;regulation of signaling receptor activity;protein kinase A signaling;positive regulation of peptidyl-threonine phosphorylation;positive regulation of protein binding;positive regulation of peptidyl-serine phosphorylation;positive regulation of insulin secretion involved in cellular response to glucose stimulus;positive regulation of gluconeogenesis by positive regulation of transcription from RNA polymerase II promoter;negative regulation of apoptotic process;positive regulation of protein kinase activity;regulation of insulin secretion;positive regulation of histone H3-K4 methylation;positive regulation of ERK1 and ERK2 cascade;cellular response to glucagon stimulus;positive regulation of calcium ion import;negative regulation of execution phase of apoptosis
- Cellular component
- extracellular region;extracellular space;endoplasmic reticulum lumen;secretory granule lumen
- Molecular function
- signaling receptor binding;hormone activity;protein binding;glucagon receptor binding;identical protein binding