UTS2R
Basic information
Region (hg38): 17:82371765-82377458
Previous symbols: [ "GPR14" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the UTS2R 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 | 2 | |||||
missense | 2 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 0 | 1 | 3 |
Variants in UTS2R
This is a list of pathogenic ClinVar variants found in the UTS2R region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
17-82374420-C-T | Benign (Jun 14, 2018) | |||
17-82374685-G-T | Benign (Dec 04, 2017) | |||
17-82374867-G-A | Benign (Apr 24, 2018) | |||
17-82375058-C-T | Likely benign (Oct 01, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
UTS2R | protein_coding | protein_coding | ENST00000313135 | 1 | 1310 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0000232 | 0.173 | 0 | 0 | 0 | 0 | 0.00 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 0.699 | 205 | 235 | 0.872 | 0.0000172 | 2314 |
Missense in Polyphen | 60 | 72.901 | 0.82303 | 845 | ||
Synonymous | 0.423 | 116 | 122 | 0.951 | 0.00000965 | 944 |
Loss of Function | -0.837 | 6 | 4.16 | 1.44 | 1.80e-7 | 43 |
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) | 0.00 | 0.00 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: High affinity receptor for urotensin-2 and urotensin-2B. The activity of this receptor is mediated by a G-protein that activate a phosphatidylinositol-calcium second messenger system. {ECO:0000269|PubMed:14550283}.;
- Pathway
- Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Other;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
- 0.185
Haploinsufficiency Scores
- pHI
- 0.124
- hipred
- N
- hipred_score
- 0.315
- ghis
- 0.420
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.600
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Uts2r
- Phenotype
- cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); muscle phenotype;
Gene ontology
- Biological process
- signal transduction;G protein-coupled receptor signaling pathway;neuropeptide signaling pathway;blood circulation;regulation of blood pressure;regulation of blood vessel diameter
- Cellular component
- plasma membrane;integral component of plasma membrane;membrane
- Molecular function
- urotensin II receptor activity;G protein-coupled receptor activity;G protein-coupled peptide receptor activity