GCGR
glucagon receptor, the group of Glucagon receptor family
Basic information
Region (hg38): 17:81804132-81814008
Links
Phenotypes
GenCC
Source:
- GCGR-related hyperglucagonemia (Supportive), mode of inheritance: AR
- GCGR-related hyperglucagonemia (Limited), mode of inheritance: Unknown
- GCGR-related hyperglucagonemia (Moderate), mode of inheritance: AR
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Mahvash disease | AR | Endocrine; Oncologic | The condition can involve alpha-cell hyperplasia with glucagonemia, and can lead to glucagonomas and/or primitive neuroectodermal tumors, and awareness may allow early diagnosis and management of medical manifestations and neoplasms | Endocrine; Oncologic | 19657311; 29702528; 30032256; 30294546; 32677665 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_provided (130 variants)
- not_specified (46 variants)
- GCGR-related_disorder (8 variants)
- GCGR-related_hyperglucagonemia (8 variants)
- Type_2_diabetes_mellitus (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the GCGR gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000160.5. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 28 | 39 | ||||
| missense | 81 | 94 | ||||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 2 | |||||
| splice donor/acceptor (+/-2bp) | 2 | |||||
| Total | 4 | 1 | 84 | 37 | 12 |
Highest pathogenic variant AF is 0.0000478143
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| GCGR | protein_coding | protein_coding | ENST00000400723 | 13 | 9882 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00000222 | 0.977 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.66 | 220 | 301 | 0.730 | 0.0000198 | 3058 |
| Missense in Polyphen | 62 | 108.38 | 0.57204 | 1169 | ||
| Synonymous | 0.314 | 128 | 133 | 0.965 | 0.00000940 | 941 |
| Loss of Function | 2.10 | 13 | 24.1 | 0.539 | 0.00000108 | 249 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: G-protein coupled receptor for glucagon that plays a central role in the regulation of blood glucose levels and glucose homeostasis. Regulates the rate of hepatic glucose production by promoting glycogen hydrolysis and gluconeogenesis. Plays an important role in mediating the responses to fasting. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Promotes activation of adenylate cyclase. Besides, plays a role in signaling via a phosphatidylinositol-calcium second messenger system. {ECO:0000269|PubMed:19657311, ECO:0000269|PubMed:22908259, ECO:0000269|PubMed:23863937, ECO:0000269|PubMed:27111510, ECO:0000269|PubMed:28514451, ECO:0000269|PubMed:7507321, ECO:0000269|PubMed:9287038}.;
- Pathway
- Glucagon signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class B Secretin-like;Signaling by GPCR;Signal Transduction;Glucagon signaling in metabolic regulation;Metabolism;G alpha (s) signalling events;Glucagon-type ligand receptors;Class B/2 (Secretin family receptors);GPCR ligand binding;Integration of energy metabolism;G alpha (q) signalling events;GPCR downstream signalling
(Consensus)
Intolerance Scores
- loftool
- rvis_EVS
- 0.19
- rvis_percentile_EVS
- 67.03
Haploinsufficiency Scores
- pHI
- 0.314
- hipred
- N
- hipred_score
- 0.378
- ghis
- 0.391
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.577
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Gcgr
- Phenotype
- homeostasis/metabolism phenotype; cellular phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); neoplasm; endocrine/exocrine gland phenotype; digestive/alimentary phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system 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); normal phenotype; reproductive system phenotype;
Zebrafish Information Network
- Gene name
- gcgrb
- Affected structure
- pancreatic A cell
- Phenotype tag
- abnormal
- Phenotype quality
- hyperplastic
Gene ontology
- Biological process
- generation of precursor metabolites and energy;exocytosis;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;response to nutrient;regulation of blood pressure;hormone-mediated signaling pathway;glucose homeostasis;response to starvation;regulation of glycogen metabolic process;cellular response to glucagon stimulus
- Cellular component
- endosome;plasma membrane;integral component of plasma membrane;integral component of membrane
- Molecular function
- glucagon receptor activity;guanyl-nucleotide exchange factor activity;G protein-coupled peptide receptor activity;peptide hormone binding