RAMP3

receptor activity modifying protein 3, the group of Receptor (G protein-coupled) activity modifying proteins

Basic information

Region (hg38): 7:45157791-45186302

Links

ENSG00000122679 ∙ NCBI:10268 ∙ OMIM:605155 ∙ HGNC:9845 ∙ Uniprot:O60896 ∙ 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 RAMP3 gene.

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.

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			6	1	2	9
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	6	1	2

Variants in RAMP3

This is a list of pathogenic ClinVar variants found in the RAMP3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-45157854-C-T		not specified	Uncertain significance (Dec 21, 2022)
7-45177327-G-A			Benign (Aug 03, 2017)
7-45177347-A-C			Benign (Aug 03, 2017)
7-45177396-G-A		not specified	Uncertain significance (Jul 11, 2023)
7-45183169-T-G		not specified	Uncertain significance (Feb 28, 2024)
7-45183224-C-T		not specified	Uncertain significance (Sep 20, 2023)
7-45183293-C-T		not specified	Uncertain significance (Jan 03, 2024)
7-45183335-G-A		not specified	Likely benign (Jun 06, 2023)
7-45183369-G-T		not specified	Uncertain significance (Mar 05, 2024)

GnomAD

Source: gnomAD

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: dbNSFP

• 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