ADRA2C
adrenoceptor alpha 2C, the group of Adrenoceptors
Basic information
Region (hg38): 4:3766348-3768526
Previous symbols: [ "ADRA2L2", "ADRA2RL2" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
Clinical Genomic Database
Source:
| Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
|---|---|---|---|---|---|
| Beta-blocker response, association with | AD | Pharmacogenomic | The presence of variants may influence medication choice (eg, in congestive heart failure) | General | 17496726 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (57 variants)
- ADRA2C-related_disorder (4 variants)
- not_provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADRA2C gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000683.4. 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 | 4 | |||||
| missense | 57 | 58 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 57 | 4 | 1 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ADRA2C | protein_coding | protein_coding | ENST00000330055 | 1 | 2177 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.502 | 0.495 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.64 | 161 | 231 | 0.696 | 0.0000118 | 2868 |
| Missense in Polyphen | 57 | 116.45 | 0.48946 | 1252 | ||
| Synonymous | -0.652 | 118 | 109 | 1.08 | 0.00000579 | 1066 |
| Loss of Function | 2.41 | 2 | 10.4 | 0.192 | 4.51e-7 | 107 |
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: Alpha-2 adrenergic receptors mediate the catecholamine- induced inhibition of adenylate cyclase through the action of G proteins.;
- Pathway
- Neuroactive ligand-receptor interaction - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Sympathetic Nerve Pathway (Neuroeffector Junction);GPCRs, Class A Rhodopsin-like;Monoamine GPCRs;Signaling by GPCR;Signal Transduction;Metabolism;Adrenaline,noradrenaline inhibits insulin secretion;Adrenoceptors;Amine ligand-binding receptors;Regulation of insulin secretion;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;Adrenaline signalling through Alpha-2 adrenergic receptor;Platelet Aggregation (Plug Formation);Platelet activation, signaling and aggregation;Hemostasis;G alpha (i) signalling events;G alpha (z) signalling events;Integration of energy metabolism;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.0996
Haploinsufficiency Scores
- pHI
- 0.0333
- hipred
- Y
- hipred_score
- 0.735
- ghis
- 0.585
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.825
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Adra2c
- Phenotype
- embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); 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); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway;adenylate cyclase-modulating G protein-coupled receptor signaling pathway;cell-cell signaling;female pregnancy;negative regulation of norepinephrine secretion;platelet activation;activation of protein kinase B activity;negative regulation of epinephrine secretion;receptor transactivation;positive regulation of MAPK cascade;positive regulation of neuron differentiation;positive regulation of vasoconstriction;regulation of insulin secretion;regulation of sensory perception of pain;negative regulation of uterine smooth muscle contraction;adrenergic receptor signaling pathway;adenylate cyclase-activating adrenergic receptor signaling pathway
- Cellular component
- cytoplasm;endosome;plasma membrane;integral component of plasma membrane;axon terminus;glutamatergic synapse;integral component of postsynaptic density membrane
- Molecular function
- adrenergic receptor activity;alpha2-adrenergic receptor activity;protein binding;alpha-2A adrenergic receptor binding;protein homodimerization activity;protein heterodimerization activity;epinephrine binding