UTS2B

protein-coding

urotensin 2B, the group of Receptor ligands

Gene summary

Predicted to enable G protein-coupled receptor binding activity. Predicted to be involved in regulation of blood pressure. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

UTS2D

MANE transcript

NM_198152.5

Inheritance

—

ClinVar variants

U:13B:3

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.83

Max pathogenic AF

—

Genomic locus

chr3:191,267,168-191,330,526

External References & Databases

Ensembl (ENSG00000188958)

Transcript & Mutation Effects

hg38 • Region Span ~63.4 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 UTS2B variants in ClinVar

2 Conditions Cataloged

not providedTotal: 17

not specifiedTotal: 14

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_198152.5. 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						0
missense			11 clinvar	3 clinvar		14
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	13	3	0	16

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_198152.5	RefSeq	NP_937795.2	5	MANE Select
ENST00000340524.10	Ensembl	ENSP00000340526.5	5	MANE Select
ENST00000425357.1	Ensembl	ENSP00000404406.1	3	Standard
ENST00000427544.6	Ensembl	ENSP00000398761.2	5	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Signaling by GPCR
Signal Transduction
Peptide ligand-binding receptors
Class A/1 (Rhodopsin-like receptors)
GPCR ligand binding

Biological Process

G protein-coupled receptor signaling pathway
regulation of blood pressure
regulation of signaling receptor activity
regulation of blood vessel diameter

Molecular Function

G protein-coupled receptor binding
hormone activity

Cellular Component

extracellular region

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000340524
Coding exons: 5
Length: 63369
Individuals with no LoFs: 124855
Homozygous LoFs: 0
Heterozygous LoFs: 4
Defined: 124859
p: 0.0000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.0226	52	52.5	0.991	0.00000260	756
Missense (PolyPhen)		8	6.9009	1.1593		91
Synonymous	-0.527	25	21.9	1.14	0.00000112	217
Loss of Function	0.430	6	7.25	0.828	4.00e-7	92

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)	0.000035	0.000035	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Potent vasoconstrictor. {ECO:0000250}.;

Recessive Scores

pRec: 0.0890

Intolerance Scores

RVIS EVS: 0.9
RVIS percentile EVS: 89.35

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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