VIPR2

vasoactive intestinal peptide receptor 2, the group of Vasoactive intestinal peptide family receptors

Basic information

Region (hg38): 7:159028175-159144867

Links

ENSG00000106018 ∙ NCBI:7434 ∙ OMIM:601970 ∙ HGNC:12695 ∙ Uniprot:P41587 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Transcripts

Transcript IDs starting with ENST are treated as Ensembl, all others as RefSeq. Showing 4 of 12.

Transcript ID	Protein ID	Coding exons	MANE Select	MANE Plus Clinical
ENST00000262178.7	ENSP00000262178.2	13	yes	-
ENST00000377633.7	ENSP00000366860.3	10	-	-
ENST00000402066.5	ENSP00000384497.1	13	-	-
ENST00000421760.2	ENSP00000402690.2	3	-	-

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the VIPR2 gene.

• not_specified (54 variants)
• not_provided (8 variants)
• Myoepithelial_tumor (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the VIPR2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000003382.5. 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				3	2	5
missense			52	3	1	56
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1			1
Total	0	0	53	6	3

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
VIPR2	protein_coding	protein_coding	ENST00000262178	13	116784

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125682	0	66	125748	0.000262

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.283	230	242	0.949	0.0000136	2821
Missense in Polyphen		88	103.33	0.85167		1214
Synonymous	-0.283	112	108	1.03	0.00000702	860
Loss of Function	1.35	20	27.7	0.723	0.00000156	284

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000717	0.000716
Ashkenazi Jewish	0.0000993	0.0000992
East Asian	0.000169	0.000163
Finnish	0.0000522	0.0000462
European (Non-Finnish)	0.000264	0.000264
Middle Eastern	0.000169	0.000163
South Asian	0.000392	0.000392
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: This is a receptor for VIP as well as PACAP-38 and -27, the activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Can be coupled to phospholipase C. {ECO:0000269|PubMed:8926282}.
• Pathway: cAMP signaling pathway - Homo sapiens (human);Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class B Secretin-like;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;Glucagon-type ligand receptors;Class B/2 (Secretin family receptors);GPCR ligand binding;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.167

Intolerance Scores

• loftool: 0.867
• rvis_EVS: -0.62
• rvis_percentile_EVS: 17.31

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.256

Gene Damage Prediction

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

Gene ontology

• Biological process: signal transduction;cell surface receptor signaling pathway;G protein-coupled receptor signaling pathway;activation of adenylate cyclase activity;cell-cell signaling;negative regulation of smooth muscle cell proliferation
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;vasoactive intestinal polypeptide receptor activity;G protein-coupled peptide receptor activity;peptide hormone binding