UTS2

urotensin 2, the group of Receptor ligands|Neuropeptides

Basic information

Region (hg38): 1:7843082-7853512

Links

ENSG00000049247 ∙ NCBI:10911 ∙ OMIM:604097 ∙ HGNC:12636 ∙ Uniprot:O95399 ∙ 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 UTS2 gene.

• Inborn genetic diseases (9 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UTS2 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				1		1
missense			7	3	1	11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	4	1

Variants in UTS2

This is a list of pathogenic ClinVar variants found in the UTS2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-7847825-T-C		not specified	Uncertain significance (Aug 17, 2022)
1-7847858-G-T		not specified	Uncertain significance (Aug 13, 2021)
1-7847869-G-A		not specified	Uncertain significance (Aug 08, 2023)
1-7847871-G-T			Likely benign (Jul 06, 2018)
1-7850818-T-C		not specified	Likely benign (Mar 30, 2022)
1-7850875-A-C		not specified	Uncertain significance (Aug 02, 2021)
1-7852915-G-A			Benign (Jul 13, 2018)
1-7852932-A-G			Likely benign (Mar 01, 2022)
1-7853340-T-C		not specified	Likely benign (Jun 29, 2023)
1-7853346-T-G		not specified	Uncertain significance (Jan 23, 2023)
1-7853395-T-C		not specified	Uncertain significance (May 05, 2023)
1-7853398-C-T		not specified	Uncertain significance (Dec 28, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UTS2	protein_coding	protein_coding	ENST00000054668	5	10430

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0316	0.827	125734	0	13	125747	0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.284	69	76.0	0.908	0.00000404	902
Missense in Polyphen		15	16.221	0.92473		220
Synonymous	0.942	22	28.4	0.775	0.00000174	257
Loss of Function	1.15	3	6.05	0.496	2.55e-7	80

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000615	0.0000615
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000615	0.0000615
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Highly potent vasoconstrictor.
• Pathway: 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: 0.166

Intolerance Scores

• loftool: 0.851
• rvis_EVS: 1.15
• rvis_percentile_EVS: 92.43

Haploinsufficiency Scores

• pHI: 0.0330
• hipred: N
• hipred_score: 0.123

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.427

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Uts2
• Phenotype: homeostasis/metabolism phenotype; liver/biliary system phenotype

Gene ontology

• Biological process: muscle contraction;G protein-coupled receptor signaling pathway;chemical synaptic transmission;regulation of blood pressure;regulation of signaling receptor activity;regulation of blood vessel diameter
• Cellular component: extracellular region;extracellular space
• Molecular function: signaling receptor binding;hormone activity