RAMP3
receptor activity modifying protein 3, the group of Receptor (G protein-coupled) activity modifying proteins
Basic information
Region (hg38): 7:45157791-45186302
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (14 variants)
- not_provided (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAMP3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005856.3. 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 | 12 | 15 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 12 | 2 | 2 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RAMP3 | protein_coding | protein_coding | ENST00000242249 | 3 | 28512 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0164 | 0.722 | 125739 | 0 | 5 | 125744 | 0.0000199 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.558 | 74 | 88.8 | 0.833 | 0.00000586 | 941 |
| Missense in Polyphen | 18 | 29.148 | 0.61753 | 356 | ||
| Synonymous | -0.745 | 46 | 40.0 | 1.15 | 0.00000307 | 296 |
| Loss of Function | 0.711 | 3 | 4.66 | 0.644 | 1.98e-7 | 58 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0000868 | 0.0000868 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.00000880 | 0.00000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in cardioprotection by reducing cardiac hypertrophy and perivascular fibrosis in a GPER1-dependent manner. Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) and GPER1 to the plasma membrane. Acts as a receptor for adrenomedullin (AM) together with CALCRL. {ECO:0000269|PubMed:23674134, 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
- 0.151
Intolerance Scores
- loftool
- 0.540
- rvis_EVS
- 0.66
- rvis_percentile_EVS
- 84.35
Haploinsufficiency Scores
- pHI
- 0.129
- hipred
- N
- hipred_score
- 0.412
- ghis
- 0.410
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.515
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ramp3
- Phenotype
- growth/size/body region phenotype;
Gene ontology
- Biological process
- angiogenesis;positive regulation of receptor recycling;calcium ion transport;intracellular protein transport;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;positive regulation of gene expression;positive regulation of protein kinase A signaling;positive regulation of cell death;protein transport;receptor internalization;cellular response to hormone stimulus;positive regulation of peptidyl-serine phosphorylation;cross-receptor inhibition within G protein-coupled receptor heterodimer;positive regulation of protein kinase B signaling;positive regulation of ERK1 and ERK2 cascade;cellular response to estradiol stimulus;protein localization to plasma membrane;G protein-coupled receptor signaling pathway involved in heart process;amylin receptor signaling pathway;positive regulation of protein localization to plasma membrane;response to amyloid-beta;positive regulation of calcium ion import across plasma membrane;adrenomedullin receptor signaling pathway
- Cellular component
- lysosome;plasma membrane;integral component of plasma membrane;cell surface;receptor complex;amylin receptor complex 3;adrenomedullin receptor complex
- Molecular function
- amyloid-beta binding;adrenomedullin receptor activity;protein binding;protein transporter activity;coreceptor activity;amylin receptor activity