UTS2B

Chr 3

urotensin 2B

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

NCBI Gene: 257313 ENSG00000188958 UniProt: Q765I0

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]

Research

ResearchGenerating clinical summary…

DNmechanismLOEUF 1.59

Clinical Summary— UTS2B

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

12 VUS of 52 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

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

This gene — mechanism propensity

0.86top 5%

GOF

0.5170th %ile

LOF

0.2189th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

52 submitted variants in ClinVar

ClinVar

Classification Summary

VUS12

Likely Benign13

Benign17

Conflicting1

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0	0
Likely Pathogenic	0	0	0	0	0
VUS	0	10	2	0	12
Likely Benign	0	3	8	2	13
Benign	0	0	17	0	17
Conflicting	—				1
Total	0	13	27	2	43

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

39 pathogenic / likely-pathogenic (of 51) ClinVar copy-number / structural variants overlap UTS2B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →