UTS2B

urotensin 2B, the group of Receptor ligands

Basic information

Region (hg38): 3:191267167-191330526

Previous symbols: [ "UTS2D" ]

Links

ENSG00000188958 ∙ NCBI:257313 ∙ OMIM:618134 ∙ HGNC:30894 ∙ Uniprot:Q765I0 ∙ 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 UTS2B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UTS2B 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						0
missense			3	2		5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1	7	17	25
Total	0	0	4	9	17

Variants in UTS2B

This is a list of pathogenic ClinVar variants found in the UTS2B region.

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

Position	Type	Phenotype	Significance	ClinVar
3-191276830-T-C		not specified	Uncertain significance (Mar 24, 2023)
3-191278134-C-T		not specified	Likely benign (Jan 24, 2023)
3-191278152-T-G		not specified	Uncertain significance (Feb 17, 2024)
3-191282110-T-C		not specified	Likely benign (Dec 17, 2021)
3-191282137-G-T		not specified	Uncertain significance (Mar 04, 2024)
3-191328941-T-C			Likely benign (Mar 31, 2019)
3-191328956-C-T			Benign (Apr 10, 2019)
3-191328981-G-A			Benign (Apr 07, 2019)
3-191329004-G-C			Benign (Nov 10, 2018)
3-191329088-A-G			Benign (Jan 13, 2019)
3-191329141-C-G			Benign (Dec 23, 2018)
3-191329218-G-A			Likely benign (May 20, 2019)
3-191329261-G-A			Likely benign (May 10, 2019)
3-191329292-G-A			Likely benign (Sep 02, 2019)
3-191329453-C-T			Likely benign (Dec 23, 2018)
3-191329612-C-G			Likely benign (Oct 20, 2018)
3-191329707-G-A			Conflicting classifications of pathogenicity (Apr 14, 2023)
3-191329719-G-A			Likely benign (Aug 21, 2018)
3-191329729-G-T			Uncertain significance (Dec 24, 2023)
3-191329743-A-G		not specified	Benign (Jan 31, 2024)
3-191329937-G-T			Benign (Nov 02, 2019)
3-191329942-T-G			Benign (Aug 20, 2019)
3-191329942-TG-T			Benign (Sep 13, 2019)
3-191329942-TGG-T			Benign (Sep 02, 2019)
3-191329942-TGGG-T			Benign (Aug 06, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UTS2B	protein_coding	protein_coding	ENST00000340524	5	63369

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000223	0.524	124855	0	4	124859	0.0000160

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0226	52	52.5	0.991	0.00000260	756
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000353	0.0000353
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Potent vasoconstrictor. {ECO:0000250}.
• 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: 0.0890

Intolerance Scores

• rvis_EVS: 0.9
• rvis_percentile_EVS: 89.35

Haploinsufficiency Scores

• pHI: 0.0670
• hipred: N
• hipred_score: 0.146

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Uts2b

Gene ontology

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