RAMP2

receptor activity modifying protein 2, the group of Receptor (G protein-coupled) activity modifying proteins

Basic information

Region (hg38): 17:42758447-42763041

Links

ENSG00000131477 ∙ NCBI:10266 ∙ OMIM:605154 ∙ HGNC:9844 ∙ Uniprot:O60895 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 7.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
NM_005854.3	NP_005845.2	4	yes	-
ENST00000253796.10	ENSP00000253796.3	4	yes	-
ENST00000587142.5	ENSP00000466455.1	4	-	-
ENST00000588928.1	ENSP00000466980.1	2	-	-

Phenotypes

GenCC

Source: genCC

• open-angle glaucoma (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RAMP2 gene.

• not_specified (23 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_005854.3. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	1		2
missense			21	2		23
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2			2
Total	0	0	24	3	0

GnomAD

Source: gnomAD

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
		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: dbNSFP

• 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

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

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