GCG

glucagon, the group of Receptor ligands

Basic information

Region (hg38): 2:162142881-162152404

Links

ENSG00000115263 ∙ NCBI:2641 ∙ OMIM:138030 ∙ HGNC:4191 ∙ Uniprot:P01275 ∙ 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 GCG gene.

• not provided (2 variants)
• Inborn genetic diseases (1 variants)

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			1		1	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
2-162144091-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: gnomAD

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: dbNSFP

• 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

• 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