UTS2R

urotensin 2 receptor, the group of Peptide receptors

Basic information

Region (hg38): 17:82371765-82377458

Previous symbols: [ "GPR14" ]

Links

ENSG00000181408NCBI:2837OMIM:600896HGNC:4468Uniprot:Q9UKP6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UTS2R gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UTS2R 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
clinvar
2
missense
1
clinvar
1
clinvar
2
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 0 1 3

Variants in UTS2R

This is a list of pathogenic ClinVar variants found in the UTS2R region.

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

Position Type Phenotype Significance ClinVar
17-82374420-C-T Benign (Jun 14, 2018)777260
17-82374685-G-T Benign (Dec 04, 2017)781393
17-82374867-G-A Benign (Apr 24, 2018)780472
17-82375058-C-T Likely benign (Oct 01, 2023)2648495

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
UTS2Rprotein_codingprotein_codingENST00000313135 11310
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.00002320.17300000.00
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6992052350.8720.00001722314
Missense in Polyphen6072.9010.82303845
Synonymous0.4231161220.9510.00000965944
Loss of Function-0.83764.161.441.80e-743

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.000.00
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.000.00
European (Non-Finnish)0.000.00
Middle Eastern0.000.00
South Asian0.000.00
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: High affinity receptor for urotensin-2 and urotensin-2B. The activity of this receptor is mediated by a G-protein that activate a phosphatidylinositol-calcium second messenger system. {ECO:0000269|PubMed:14550283}.;
Pathway
Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Other;Signaling by GPCR;Signal Transduction;Peptide ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec
0.185

Haploinsufficiency Scores

pHI
0.124
hipred
N
hipred_score
0.315
ghis
0.420

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.600

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Uts2r
Phenotype
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); muscle phenotype;

Gene ontology

Biological process
signal transduction;G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;blood circulation;regulation of blood pressure;regulation of blood vessel diameter
Cellular component
plasma membrane;integral component of plasma membrane;membrane
Molecular function
urotensin II receptor activity;G protein-coupled receptor activity;G protein-coupled peptide receptor activity