UTS2B

Chr 3

urotensin 2B

Also known as: U-IIB, U2B, UIIB, URP, UTS2D

NCBI Gene: 257313 ENSG00000188958 UniProt: Q765I0 OMIM: 618134

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]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.59

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.59LOEUF

pLI 0.000

Z-score 0.43

OE 0.83 (0.45–1.59)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.02Z-score

OE missense 0.99 (0.79–1.25)

52 obs / 52.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.83 (0.45–1.59)

0≤0.351.4

Missense OE?0.99 (0.79–1.25)

0≤0.61.4

Synonymous OE?1.14

0≤1.21.6

LoF obs/exp: 6 / 7.2Missense obs/exp: 52 / 52.5Syn Z: -0.53

Background carrier burden — how many people carry a rare variant somewhere in UTS2B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 260

151 rare PASS variants

Rare truncating (LoF)

1 in 460

44 rare PASS variants

Rare synonymous (reference)

1 in 850

60 rare PASS variants

Rare missense and truncating variants are carried at similar rates in UTS2B; this gene does not show strong loss-of-function constraint by this measure. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 880	1 in 2,300
South Asian	~43k	1 in 470	1 in 1,100
Remaining (unassigned)	~30k	1 in 520	1 in 600
European (Finnish)	~27k	≈ 1 in 26,000	1 in 2,600
Admixed American	~22k	1 in 290	1 in 740
African / African American	~21k	1 in 260	1 in 2,000
East Asian	~20k	1 in 2,000	1 in 730
Ashkenazi Jewish	~13k	≈ 1 in 3,200	none seen
Middle Eastern	~2,884	≈ 1 in 950	1 in 570

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 3 of 5 coding exons well covered in gnomAD exomes; exons 6, 9 marginal. Genomes: all 5.? see exons ↓