RAMP2
receptor activity modifying protein 2, the group of Receptor (G protein-coupled) activity modifying proteins
Basic information
Region (hg38): 17:42758447-42763041
Links
Phenotypes
GenCC
Source:
- open-angle glaucoma (Limited), mode of inheritance: AD
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (20 variants)
- not_provided (1 variants)
- RAMP2-related_disorder (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAMP2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005854.3. 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 | 1 | |||||
| missense | 18 | 20 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 18 | 3 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RAMP2 | protein_coding | protein_coding | ENST00000253796 | 4 | 4595 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0511 | 0.869 | 125727 | 0 | 7 | 125734 | 0.0000278 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.917 | 61 | 84.8 | 0.720 | 0.00000399 | 1127 |
| Missense in Polyphen | 18 | 26.387 | 0.68215 | 388 | ||
| Synonymous | 0.552 | 30 | 34.1 | 0.880 | 0.00000180 | 355 |
| Loss of Function | 1.45 | 3 | 7.20 | 0.416 | 3.93e-7 | 75 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000264 | 0.0000264 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.0000653 | 0.0000653 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for adrenomedullin (AM) together with CALCRL. {ECO:0000269|PubMed:22102369, ECO:0000269|PubMed:9620797}.;
- Pathway
- Vascular smooth muscle contraction - Homo sapiens (human);Myometrial Relaxation and Contraction Pathways;Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;Calcitonin-like ligand receptors;Class B/2 (Secretin family receptors);GPCR ligand binding;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.141
Intolerance Scores
- loftool
- 0.680
- rvis_EVS
- -0.05
- rvis_percentile_EVS
- 49.39
Haploinsufficiency Scores
- pHI
- 0.533
- hipred
- N
- hipred_score
- 0.153
- ghis
- 0.586
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- S
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.423
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ramp2
- Phenotype
- homeostasis/metabolism phenotype; muscle 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); embryo phenotype; immune system phenotype; 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); reproductive 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); 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); liver/biliary system phenotype;
Gene ontology
- Biological process
- angiogenesis;vasculogenesis;response to hypoxia;sprouting angiogenesis;calcium ion transport;intracellular protein transport;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;heart development;female pregnancy;regulation of blood pressure;regulation of G protein-coupled receptor signaling pathway;positive regulation of gene expression;protein transport;receptor internalization;response to estradiol;response to progesterone;cellular response to hormone stimulus;adherens junction assembly;cellular response to vascular endothelial growth factor stimulus;negative regulation of vascular permeability;positive regulation of angiogenesis;bicellular tight junction assembly;basement membrane assembly;protein localization to plasma membrane;vascular smooth muscle cell development;amylin receptor signaling pathway;adrenomedullin receptor signaling pathway;negative regulation of endothelial cell apoptotic process;positive regulation of vasculogenesis
- Cellular component
- cytoplasm;lysosome;plasma membrane;integral component of plasma membrane;clathrin-coated pit;cell surface;receptor complex;amylin receptor complex 2;adrenomedullin receptor complex
- Molecular function
- adrenomedullin receptor activity;protein binding;protein transporter activity;coreceptor activity;amylin receptor activity;adrenomedullin binding