UTS2R

protein-coding

urotensin 2 receptor, the group of Peptide receptors

Gene summary

Predicted to enable urotensin II receptor activity. Predicted to be involved in neuropeptide signaling pathway. Predicted to be located in membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

GPR14

MANE transcript

NM_018949.3

Inheritance

—

ClinVar variants

B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.44

Max pathogenic AF

—

Genomic locus

chr17:82,371,765-82,377,458

External References & Databases

Ensembl (ENSG00000181408)

Transcript & Mutation Effects

hg38 • Region Span ~5.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to UTS2R variants in ClinVar

1 Conditions Cataloged

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018949.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous					2 clinvar	2
missense				1 clinvar	1 clinvar	2
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	1	3	4

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 7 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018949.3	RefSeq	NP_061822.1	1	MANE Select
ENST00000313135.5	Ensembl	ENSP00000323516.2	1	MANE Select
NM_001381897.1	RefSeq	NP_001368826.1	1	Standard
ENST00000856767.1	Ensembl	ENSP00000526826.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Neuroactive ligand-receptor interaction - Homo sapiens (human)
GPCRs, Other
Signaling by GPCR
Signal Transduction
Peptide ligand-binding receptors

Biological Process

signal transduction
G protein-coupled receptor signaling pathway
neuropeptide signaling pathway
blood circulation
regulation of blood pressure

Molecular Function

urotensin II receptor activity
G protein-coupled receptor activity
G protein-coupled peptide receptor activity

Cellular Component

plasma membrane
integral component of plasma membrane
membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000313135
Coding exons: 1
Length: 1310
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.699	205	235	0.872	0.0000172	2314
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

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}.;

Recessive Scores

pRec: 0.185

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.600

Gene Damage Prediction

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