RAMP1

receptor activity modifying protein 1, the group of Receptor (G protein-coupled) activity modifying proteins

Basic information

Region (hg38): 2:237858892-237912106

Links

ENSG00000132329 ∙ NCBI:10267 ∙ OMIM:605153 ∙ HGNC:9843 ∙ Uniprot:O60894 ∙ 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 RAMP1 gene.

• Inborn genetic diseases (8 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RAMP1 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					2	2
missense			7	1		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	1	2

Variants in RAMP1

This is a list of pathogenic ClinVar variants found in the RAMP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-237877229-C-T		not specified	Uncertain significance (Oct 20, 2023)
2-237877266-A-T		not specified	Uncertain significance (Jun 13, 2022)
2-237877293-T-C		not specified	Uncertain significance (Jul 21, 2021)
2-237877332-C-T		not specified	Uncertain significance (Dec 19, 2023)
2-237877360-C-G		not specified	Uncertain significance (Jun 10, 2022)
2-237911535-A-G		not specified	Likely benign (Dec 07, 2021)
2-237911670-C-T		not specified	Uncertain significance (Dec 01, 2022)
2-237911676-C-T		not specified	Uncertain significance (Mar 17, 2023)
2-237911706-G-A		not specified	Uncertain significance (Dec 27, 2022)
2-237911726-C-A			Benign (Jan 08, 2018)
2-237911738-G-A			Benign (Jan 18, 2018)
2-237911760-A-G		not specified	Uncertain significance (Sep 27, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RAMP1	protein_coding	protein_coding	ENST00000254661	3	53221

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.132	0.788	125717	0	28	125745	0.000111

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.550	107	92.1	1.16	0.00000579	952
Missense in Polyphen		33	28.54	1.1563		340
Synonymous	0.388	37	40.1	0.922	0.00000268	306
Loss of Function	1.41	2	5.59	0.358	2.39e-7	60

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000145	0.000145
Ashkenazi Jewish	0.000797	0.000794
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.000177	0.000105
Middle Eastern	0.0000544	0.0000544
South Asian	0.000163	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transports the calcitonin gene-related peptide type 1 receptor (CALCRL) to the plasma membrane. Acts as a receptor for calcitonin-gene-related peptide (CGRP) together with CALCRL. {ECO:0000269|PubMed:9620797}.
• Pathway: Vascular smooth muscle contraction - Homo sapiens (human);Endothelin Pathways;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: 0.160

Intolerance Scores

• loftool: 0.660
• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.04

Haploinsufficiency Scores

• pHI: 0.122
• hipred: N
• hipred_score: 0.201
• ghis: 0.518

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.804

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ramp1
• 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); homeostasis/metabolism phenotype; immune system phenotype; muscle phenotype

Gene ontology

• Biological process: angiogenesis;calcium ion transport;intracellular protein transport;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;regulation of G protein-coupled receptor signaling pathway;protein transport;receptor internalization;cellular response to hormone stimulus;positive regulation of protein glycosylation;protein localization to plasma membrane;amylin receptor signaling pathway;calcitonin gene-related peptide receptor signaling pathway
• Cellular component: extracellular space;plasma membrane;integral component of plasma membrane;cell surface;receptor complex;amylin receptor complex 1;CGRP receptor complex
• Molecular function: calcitonin gene-related peptide receptor activity;protein binding;protein transporter activity;coreceptor activity;amylin receptor activity;calcitonin gene-related peptide binding