UTS2R

urotensin 2 receptor, the group of Peptide receptors

Basic information

Region (hg38): 17:82371765-82377458

Previous symbols: [ "GPR14" ]

Links

ENSG00000181408

∙ NCBI:2837 ∙ OMIM:600896 ∙ HGNC:4468 ∙ Uniprot:Q9UKP6 ∙ 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 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	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

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UTS2R	protein_coding	protein_coding	ENST00000313135	1	1310

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000232	0.173	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.699	205	235	0.872	0.0000172	2314
Missense in Polyphen		60	72.901	0.82303		845
Synonymous	0.423	116	122	0.951	0.00000965	944
Loss of Function	-0.837	6	4.16	1.44	1.80e-7	43

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

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

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

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